Diagnosing and Caring for the Child with Autism Spectrum Disorder: A Practical Guide for the Primary Care Provider [1st ed. 2020] 978-3-030-26530-4, 978-3-030-26531-1

Table of contents :
Front Matter ....Pages i-xvi
Front Matter ....Pages 1-1
Introduction to the Book and the Concept of Autism Spectrum Disorder (Tina Iyama-Kurtycz)....Pages 3-7
Obstacles to Diagnosing Autism Spectrum Disorder and Myths About Autism (Tina Iyama-Kurtycz)....Pages 9-17
Autism Screening and Early Identification: If You See Something, Say Something (Tina Iyama-Kurtycz)....Pages 19-31
Front Matter ....Pages 33-33
Steps to Diagnosis and the First Minute (Tina Iyama-Kurtycz)....Pages 35-40
Elicit a Developmental History (Tina Iyama-Kurtycz)....Pages 41-49
Overview of the Diagnostic System: Using Diagnostic Criteria (Tina Iyama-Kurtycz)....Pages 51-64
The Developmental Physical Exam (Tina Iyama-Kurtycz)....Pages 65-77
Assessing Current Developmental Levels and Making a Diagnostic Decision (Tina Iyama-Kurtycz)....Pages 79-88
Discussing Your Findings with Parents: Saying the “A” Word (Tina Iyama-Kurtycz)....Pages 89-93
Connect the Family with Community Resources (Tina Iyama-Kurtycz)....Pages 95-101
Documentation: What You Say Matters (Tina Iyama-Kurtycz)....Pages 103-105
Front Matter ....Pages 107-107
Evidence-Based Treatments (Tina Iyama-Kurtycz)....Pages 109-120
Alternative Interventions and the Placebo Effect (Tina Iyama-Kurtycz)....Pages 121-130
Front Matter ....Pages 131-131
Respect for the Sensory and Anxiety Issues of Children with ASD (Tina Iyama-Kurtycz)....Pages 133-135
Teaching Effective and Positive Parenting Skills (Tina Iyama-Kurtycz)....Pages 137-144
Challenging Behaviors in ASD (Tina Iyama-Kurtycz)....Pages 145-155
Primary Care Issues by Age (Tina Iyama-Kurtycz)....Pages 157-188
Looking Forward (Tina Iyama-Kurtycz)....Pages 189-201
Front Matter ....Pages 203-203
The Diagnostic Borderlands of the Autism Spectrum (Tina Iyama-Kurtycz)....Pages 205-216
Females with ASD (Tina Iyama-Kurtycz)....Pages 217-219
Gender Identity in ASD (Tina Iyama-Kurtycz)....Pages 221-224
Cultural Perspectives in ASD (Tina Iyama-Kurtycz)....Pages 225-231
Prevention of ASD (Tina Iyama-Kurtycz)....Pages 233-234
Conclusions (Tina Iyama-Kurtycz)....Pages 235-235
Back Matter ....Pages 237-269

Citation preview

Diagnosing and Caring for the Child with Autism Spectrum Disorder A Practical Guide for the Primary Care Provider Tina Iyama-Kurtycz Foreword by Lewis Leavitt

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Diagnosing and Caring for the Child with Autism Spectrum Disorder

Tina Iyama-Kurtycz

Diagnosing and Caring for the Child with Autism Spectrum Disorder A Practical Guide for the Primary Care Provider

Tina Iyama-Kurtycz, MD Waisman Center University of Wisconsin System Madison, WI USA

ISBN 978-3-030-26530-4    ISBN 978-3-030-26531-1 (eBook) https://doi.org/10.1007/978-3-030-26531-1 © Springer Nature Switzerland AG 2020 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

To the center of my whole world and the long keel on our boat, Dr. Dan Iyama-Kurtycz To David and Jonathan, who taught me about parenting, when I knew nothing

Foreword

Over a half century ago as a physician in training, I was confronted by my first patient with autism (now called autism spectrum disorder). It was then considered rare. Knowledge about the etiology, physiology, diagnostic approach, and even terminology was inchoate, confusing, and most importantly not very helpful to the patients or their families. Medical science had few tools and resources to bring into service. Empirical research over the ensuing decades performed by a wide variety of disciplines has brought a revolution in our understanding of autism and new diagnostic and treatment modalities. A reconceptualization from a rare psychiatric disorder to a neurodevelopment disorder based on altered neurologic function has allowed the development of treatment approaches to ameliorate dysfunctional behavior. It has been one of the rewards of a long career for me to see the repair of many of the negative connotations of autism spectrum disorder (ASD) and to see the positive results of new therapeutic approaches. All this would be interesting for the primary care provider (PCP) but not of great importance to everyday practice were autism spectrum disorder truly a rare occurrence. However, our new understanding of ASD and careful epidemiological research has shown that ASD occurs in one in 59 children (2018, CDC). This means that every PCP will encounter children with ASD in their practice. Patients with ASD have a considerable burden of physical, psychological, and social concerns. It means that PCPs must think about how to evaluate children with ASD and determine what resources for therapy are available in their community. Providing a medical home for these patients requires PCPs to prepare linkages with appropriate medical, social, and educational resources. This is a “big ask.” Even today, most PCPs have had little professional training in ASD. There are now some technical books which review recent work on diagnosis and therapy, but to date, there has not been a practical vade mecum that covers the practical how-to-­ do-it for the day-to-day work of PCPs in the clinic. In this book, Dr. Iyama-Kurtycz comes to the rescue. She is ideally suited to the task. She is a developmental pediatrician who has spent decades devoted to the clinical care of children with ASD.  Trained in developmental pediatrics and on vii

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the faculty of the University of Wisconsin School of Medicine and Public Health for more than 30 years, she has extensive clinical experience working with colleagues in an interdisciplinary academic and clinical setting. She is conversant with the research and practices of a wide range of practitioners from pediatrics to genetics to social work and understands how important it is for a multidisciplinary group to collaborate in the care of children with ASD. Writing in a conversational style, Dr. Iyama-Kurtycz takes the reader by the hand. She starts with a stroll through current understanding of the disorder and then picks up the pace to provide, step-by-step, practical and concrete ways that practitioners can proceed with their patients. Her advice is meticulously based on research and has been tested in her everyday clinical practice. She is frank about what is easily done, what is hard to do, and what is still simply unknown. This book will be invaluable to PCPs over and above its coverage of ASD. Many of the techniques of a developmental approach to the evaluation of children with ASD generalize to an approach to all children. Issues like bullying, sexuality, and the importance of friendships, which Dr. Iyama-Kurtycz explains must be addressed with ASD patients, are also important in the lives of all children. The section on working with parents has many practical lessons which generalize to other parent populations. This is a book about how PCPs can use insights from developmental pediatrics to help their practice be sensitive to variation in the developmental trajectory of children. It will provide enormous practical aid for practitioners and help for the children and families they serve. Lewis A. Leavitt, MD Professor Emeritus of Pediatrics University of Wisconsin School of Medicine and Public Health Madison, WI, USA

Preface

Autism spectrum disorder (ASD) features prominently in our daily world, through print and electronic news sources, books, and movies, and in our personal and professional lives. The information can be scientifically accurate or completely inaccurate. Stories about individuals are not representative of all people with ASD. There is a saying in the autism community that “If you’ve met one person with autism, you’ve met one person with autism,” highlighting how different each person with ASD might be from another. Everyone who cares for children in a healthcare setting will see children with ASD, and this inundation of autism-related coverage can make understanding ASD seem too confusing, too hard, or too time-consuming. I wrote this book so that all of you who care for children with ASD can learn enough so that you feel more comfortable in both understanding the condition and caring for your patients. I wrote this book in a style that I hope is very readable, conversational, and accessible. I used real-life stories from my practice to give you the sense of clinical encounters with children and families. This is meant as a practical guide, not a comprehensive review of the literature. I have lived through the radical change in the understanding of autism. When I started, only the most severe and classic cases of autism were diagnosed. As more and more research emerged, we recalibrated our idea of what autism was and saw who might fit into this clinical “box.” As we continued to learn, it became clear that there was no diagnostic box but that we were dealing with a spectrum, a spectrum that continues to include more children and adults, who have carried different diagnostic labels. ASD now includes the children who were diagnosed in the past and who were most affected by their autism, as well as those children and adults who are not “obviously” affected. Children can start out on the spectrum but not diagnosed and present to an office with mental health or behavioral challenges that may not make autism pop onto the differential right away. I hope this book will give you a better understanding of the clinical condition known as autism, how it is diagnosed, and how to help parents and children meet the challenges that life presents. I hope you

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will also have an understanding of what it might be like to have ASD, which can explain a lot of what you see in the office. Although autism was not a major diagnosis when I started, and was almost always made by child psychiatrists, my practice evolved to a point where about 80% of my developmental pediatrics practice involved children on the spectrum. In primary care, we expect PCP’s to diagnose the classic forms of conditions, from medical ones like diabetes to developmental conditions such as ADHD.  ASD is no different. Complex cases can and should get referred to specialists, if you have access to them. Many providers now diagnose autism, including pediatricians, developmental and behavioral pediatricians, psychologists, neuropsychologists, family medicine specialists, and pediatric neurologists. A pediatric therapist, such as an OT or speech and language pathologist, might be the first person to ask a parent if they have looked into the possibility of autism. I do not see a reason why any interested practitioner, including nurse practitioners and physician assistants, could not do the same. Many pediatricians have told me that they suspected autism for quite some time before they discussed it with the family. They hesitated for a variety of valid reasons, but that is not in the best interests of the child. A young child’s brain is rapidly developing, and interventions are most likely to help the earlier they are provided. We cannot make children wait for someone way down the line to confirm their clinical suspicions. Children need help as soon as possible, and the more PCPs know about ASD, the more likely that is to occur. We need to act as soon as we can for the best outcomes of our children. I hope this book gives you the knowledge and confidence to move in that direction. Notes: (1) Although the truly correct term is autism spectrum disorder or ASD, I will use the term “autism” interchangeably with ASD at times, which is a common practice. (2) I tried to use gender neutral language, referring to “the child” instead of “he or she.” This leads to the grammatically awkward statements of “the child….they.” My apologies. (3) The present term of intellectual disabilities used to be called mental retardation. The older term is used when it is historically accurate. (4) The figures are made to be drawable by anyone. Visual illustrations can be helpful when talking with parents. (5) All names of children are fictional. All the stories are true. Madison, WI, USA

Tina Iyama-Kurtycz, MD, FAAP

Acknowledgments

I live in a place of gratitude: To Lewis Leavitt, who miraculously agreed to write the Foreword and from whom I have learned one can be both brilliant and kind To mentors, who took the time to teach and answer so many questions: • In the Neural & Behavioral Sciences course at the University of Michigan Medical School • In pediatric neurology: Raymond Chun and Kurt Hecox • In developmental pediatrics: Lewis Leavitt, Irene Ibler, and Stan Berlow • In pediatric genetics: Richard Pauli and Renata Laxova • In general pediatrics and life: Méméé Chun To friends and colleagues, who helped with this manuscript: Betty Ulanski, Don Anderson, David Wargowski, Sarah Marshall, and Anne Heintzelmann; to Rae Sprague and Lynn Levin, for their support, knowledge, and friendship; to Megan Farley, who knows why; and to Heidi Marleau, who can find any reference, if it exists. All errors are my own. To Patricia Key, who taught me more about babies than I ever learned in school To Ross Greene, whose work shaped my understanding of what “behavior” means To Daniel Iyama-Kurtycz, who provided all the technical assistance and without whose help this book would not have happened To the University of Wisconsin School of Medicine and Public Health and the Department of Pediatrics, which has been my only professional home, and to the Waisman Center, for providing outstanding service to children with developmental disabilities and their families And to all the parents who do their very best to create good futures for their children and who have shared their stories with me over the years and to those children who played with me even when they would have preferred to be somewhere else

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Contents

Part I Introduction 1 Introduction to the Book and the Concept of Autism Spectrum Disorder����������������������������������������������������������������������������������    3 2 Obstacles to Diagnosing Autism Spectrum Disorder and Myths About Autism��������������������������������������������������������������������������������������������    9 3 Autism Screening and Early Identification: If You See Something, Say Something����������������������������������������������������������������������   19 Part II Diagnosing Autism Spectrum Disorder 4 Steps to Diagnosis and the First Minute������������������������������������������������   35 5 Elicit a Developmental History ��������������������������������������������������������������   41 6 Overview of the Diagnostic System: Using Diagnostic Criteria����������   51 7 The Developmental Physical Exam��������������������������������������������������������   65 8 Assessing Current Developmental Levels and Making a Diagnostic Decision ������������������������������������������������������������������������������   79 9 Discussing Your Findings with Parents: Saying the “A” Word ����������   89 10 Connect the Family with Community Resources����������������������������������   95 11 Documentation: What You Say Matters������������������������������������������������  103 Part III Treatment and Intervention 12 Evidence-Based Treatments��������������������������������������������������������������������  109 13 Alternative Interventions and the Placebo Effect ��������������������������������  121 xiii

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Part IV Working with Parents: Primary Care Issues in ASD 14 Respect for the Sensory and Anxiety Issues of Children with ASD ��������������������������������������������������������������������������������������������������  133 15 Teaching Effective and Positive Parenting Skills����������������������������������  137 16 Challenging Behaviors in ASD����������������������������������������������������������������  145 17 Primary Care Issues by Age��������������������������������������������������������������������  157 18 Looking Forward ������������������������������������������������������������������������������������  189 Part V Special Topics in Caring for the Child with ASD and the Family 19 The Diagnostic Borderlands of the Autism Spectrum��������������������������  205 20 Females with ASD������������������������������������������������������������������������������������  217 21 Gender Identity in ASD ��������������������������������������������������������������������������  221 22 Cultural Perspectives in ASD������������������������������������������������������������������  225 23 Prevention of ASD������������������������������������������������������������������������������������  233 24 Conclusions����������������������������������������������������������������������������������������������  235 Appendices��������������������������������������������������������������������������������������������������������  237 Index������������������������������������������������������������������������������������������������������������������  261

Abbreviations

AAC AAP ABA ABC model aCGH ADHD ADI-R ADOS APA ASD ASQ BAP CAM CARS CAS CBCL CBT CD CDC CDD CP D&D DLD DS DSM DTT ECP EIBI ESDM FC FISH

Augmentative and Alternative Communication American Academy of Pediatrics Applied Behavioral Analysis Antecedent-Behavior-Consequence model Array Comparative Genomic Hybridization Attention Deficit Hyperactivity Disorder Autism Diagnostic Interview-Revised Autism Diagnostic Observation Schedule American Psychiatric Association Autism Spectrum Disorder Ages and Stages Questionnaire Broader Autism Phenotype Complementary and Alternative Medicine Childhood Autism Rating Scale Childhood Apraxia of Speech Child Behavior Checklist Cognitive Behavior Therapy Cognitive Disabilities Centers for Disease Control Childhood Disintegrative Disorder Cerebral Palsy Dungeons and Dragons Developmental Language Disorder Down Syndrome Diagnostic and Statistical Manual Discrete Trial Training Early Childhood Program Early Intensive Behavioral Intervention Early Start Denver Model Facilitated communication Florescent In Situ Hybridization xv

xvi

FXS GDD GF/CF HBO ID Team ID IDEA IEP LD MCHAT NDBI NF1 NVLD OBS OCD ODD OT PDD-NOS PDD PEDS PEERS PT RAD RPG’s RRB’s RTT SBDM SCQ SD SID SLP SLT SID SPD SSRIs TS WES WGS 0–3

Abbreviations

Fragile X syndrome Global Developmental Delay Gluten-Free/Casein-Free (diets) Hyperbaric Oxygen (treatment) Interdisciplinary Team Intellectual Disabilities Individuals with Disabilities Education Act Individualized Educational Plan Learning Disabilities Modified Checklist for Autism in Toddlers Naturalistic Developmental Behavioral Intervention Neurofibromatosis Type 1 Nonverbal Learning Disability Organic Brain Syndrome Obsessive Compulsive Disorder Oppositional Defiant Disorder Occupational Therapy Pervasive Developmental Disorder-Not Otherwise Specified Pervasive Developmental Disorder Parent Evaluation of Developmental Status Program for the Education and Enrichment of Relational Skills Physical Therapy Reactive Attachment Disorder Role-Playing Games Restricted and Repetitive Behaviors Rett Syndrome Society for Behavioral and Developmental Medicine Social Communication Questionnaire Standard Deviation Sensory Integration Disorder Speech and Language Pathologist Speech and Language Therapy Sensory Integration Disorder Sensory Processing Disorder Selective Serotonin Reuptake Inhibitors Tuberous Sclerosis Whole Exome Sequencing Whole Genome Sequencing Birth-to-Three Program

Part I

Introduction

Chapter 1

Introduction to the Book and the Concept of Autism Spectrum Disorder

“I think he has autism, but I’m not sure.”

Primary care providers often recognize the signs and symptoms of autism spectrum disorder in their patients but feel unprepared to make that diagnosis. I wrote this book to give you the tools to screen, recognize, diagnose, and care for children with autism and autism spectrum disorder (ASD). For those who do not want to make these diagnoses, but want to know more, I hope you will learn more about children with ASD through the discussions on diagnostic criteria. I would like everyone who sees children in a healthcare setting to know about ASD. You currently have several children with autism spectrum disorder in your practice. The current estimate is that about 1–2% of children has a diagnosis “on the spectrum” (1/59 in 2018, CDC, Letter) [1]. A different way of collecting data led to an estimate that 1/40 children has ASD and also revealed regional variations in prevalence [2]. Some children will be severely affected by their autism and will never use words to communicate; other children will be so mildly affected that they may not need special education services. All children with autism need our recognition of their differences and respect for their individuality. Parents appreciate a diagnosis that occurs as early as possible, involving the fewest professionals [3]. Autism is a description of a developmental profile that impairs a child’s capacity for reciprocal social interactions, affects verbal and nonverbal communication, and is associated with a restricted range of interests or repetitive behaviors. Autism is a developmental disability that is caused by multiple genetic factors and possibly some prenatal environmental exposures that may interact with susceptible genes and affect brain development. Autism may also be just one facet of a more complex neurodevelopmental ­disorder. A child may have cerebral palsy, an intellectual disability (formerly known as mental retardation), and autism, may be blind and autistic, or may have other comorbid diagnoses. Brain development is complex, and the variations of impairment often exceed the mental constructs that we have to work with. Children are more complex than our diagnostic boxes (Fig. 1.1). © Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_1

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1  Introduction to the Book and the Concept of Autism Spectrum Disorder

LD

D

ADH

ASD

ID

Fig. 1.1  Some children fit neatly into our diagnostic boxes

If you appreciate this complexity, you can help parents who want “The Answer” or “The Truth.” The thought that there is a one clear truth about a child’s development can lead to frustration, both on the part of parents and primary care providers. There are, to be sure, better and worse descriptors and more useful and less useful ways to conceptualize a developmental problem, but there is often no one right answer. Some children with autism have classic symptoms. This developmental profile fits neatly into the diagnostic box of autism. These are the children you should be able to recognize, evaluate, and diagnose in a primary care practice. As occurs in many other subspecialties, complex cases get referrals to developmental pediatricians, child psychologists, or other diagnosticians. A better way to think about developmental conditions is by imagining overlapping clouds. While it is easier for us when children fit neatly into one of our diagnostic categories, developmental and behavioral conditions often have overlapping symptoms (Fig. 1.2).

Fig. 1.2  The symptoms of childhood learning and behavior disorders often overlap

1  Introduction to the Book and the Concept of Autism Spectrum Disorder

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Saying that a child has autism spectrum disorder does not tell us why they have this condition. Dozens of genetic syndromes are associated with autism. Ten percent of children with Down syndrome have an ASD.  About 25–40% of children with fragile X syndrome have an ASD.  About 20% of boys with Duchenne muscular dystrophy have ASD [4]. Four to five times as many boys have autism as girls. This figure is changing as previously unrecognized females are being diagnosed. Saying that a child has autism does not tell us how smart they are. Intelligence is not one of the factors considered in making a diagnosis of autism. Somewhere between 75% (an older figure) and 30% (a newer figure) of children with autism also have some degree of intellectual disability [5]. Children with ASD often have uneven developmental skills, with more difficulty with verbal reasoning and better developed nonverbal skills. The reverse profile is also possible, with better verbal than nonverbal skills. We are also learning that how children do as they grow up depends a fair amount on what are called their “adaptive skills.” Adaptive skills are those that show how a child uses their intelligence in everyday life. For young children, this often involves daily living skills, like dressing and toileting. For older children, this may involve “common sense” abilities to be wary of strangers or not leaving the house without telling someone. Adaptive skills in autism can be significantly lower than a child’s IQ. This can make it hard for others to understand why this child who is “so smart” cannot function in an everyday way. Autism is a clinical diagnosis. It is an impression based on parent’s history, on reports from therapists and educators, and on your observations of the child in clinic. There is no way to confirm this clinical impression by laboratory or imaging tests, which may make physicians reluctant to make this diagnosis. You may feel as if you need more experience in this field. You need to approach the question in an organized fashion, collect the appropriate information, make a diagnosis of autism, and be able to refer children in your practice to the people who will help them develop to their maximum potentials. There is nothing I do for parents of children with autism spectrum disorders that you could not do. There are no developmental emergencies, no invasive procedures, and no autism treatment you will be providing directly. There are things to know, and I hope this book meets your needs. This book is designed to help the busy primary care practitioner identify young children with ASD, diagnose many cases of ASD, get help for the children, and be able to provide care over the years in your practice. I won’t say diagnosing autism isn’t complicated, but it is no different than any other diagnosis you feel comfortable making in your practice. Many primary care providers diagnose clinically defined conditions such as ADHD, anxiety, or other conditions defined in the Diagnostic and Statistical Manual (DSM) of the American Psychiatric Association, currently in its 5th edition. If the case is complicated, say by traumatic history, or complex medical conditions, you may refer those children out to specialists. But if you walk into a room and think, “That child has autism,” you can make that diagnosis yourself and refer the child for services. That helps the child get earlier intervention, which is the ideal situation. Part I includes this overview, factors that may stop us from making this diagnosis, and discusses screening and early identification. If there were a clear boundary between people who have ASD and people who do not, it would be easy to identify children and get them into therapies (Fig. 1.3).

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1  Introduction to the Book and the Concept of Autism Spectrum Disorder

Fig. 1.3  The ideal world, where it is easy to tell who has ASD and who does not

All the individual symptoms of autism can be present in otherwise typically developing children. Not everyone who walks on their tiptoes or is an expert on one small topic has ASD. The real world involves overlap and judgment. The real world has an overlap between people with ASD and so-called “neurotypical” people (Fig.1.4).

Fig. 1.4  The real world

References

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Some of you will want the details of the diagnostic process. Part II will attempt to fill those needs. Each diagnostic criterion discussed also reveals another facet of the child with ASD. Some of you want to know how to help parents choose from the myriad of interventions available by both reputable and disreputable sources. Part III is devoted to intervention. Others of you have a system for referring your patients to specialty autism clinics, but want to know more about how to address special issues that arise in the childhood and adolescence of people with ASD, including ways to support the family and deal with practical matters of everyday life. Part IV will hopefully address those questions. Part V addresses special topics that may interest some readers. I hope some of you will want all of the above! Concluding remarks are found in Chap. 24. The Appendices include handouts that are also available on the Springer website (https://doi.org/10.1007/978-3-030-26531-1) for download or links to more information, one addressed to parents providing my perspective on the most common questions I address in my practice. For the reader who likes to read “here and there,” some concepts may be found in more than one chapter. These are the essentials that I hope all visitors to this book will take with you when you leave. Please remember that autism research is a booming and rapidly changing field. “Today’s dogma is tomorrow’s heresy” (Lewis Leavitt, MD). This is the brilliance of science. If we get new and compelling data, we can respond to this news by changing our practices. Things may be updated by the time you are reading this book. I have learned so much from all the children, parents, and all of my friends and colleagues in many disciplines. Thank you to them and to you. I hope this volume is helpful.

References 1. Knopf A.  Autism rates increase slightly: CDC.  Brown Univ Child Adolesc Behav Lett. 2018;34(6):4–5. 2. Kogan MD, Vladutiu CJ, Schieve LA, Ghandour RM, Blumberg SJ, Zablotsky B, et al. The prevalence of parent-reported autism spectrum disorder among US children. Pediatrics. 2018;142(6):e20174161. 3. Goin-Kochel RP, Mackintosh VH, Myers BJ. How many doctors does it take to make an autism spectrum diagnosis? Autism. 4 ed. Sage Publications: Thousand Oaks. 2016;10(5):439–51. 4. Fujino H, Saito T, Matsumura T, Shibata S, Iwata Y, Fujimura H, et al. Autism spectrum disorders are prevalent among patients with dystrophinopathies. Neurol Sci. 2018;39(7):1279–82. 5. Christensen DL, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years  — Autism and developmental disabilities monitoring network, 11 sites, United States, 2012. Surveill Summ. 2016;65(3):1–23.

Chapter 2

Obstacles to Diagnosing Autism Spectrum Disorder and Myths About Autism

It’s the Lake Wobegon syndrome. We want all the children we care for to be “above average” or at least not have any developmental problems. We listen to parents who cannot believe their child could have delays, who are in denial, and who are defending their young against a grandma or friend who has had the courage to suggest there might be something wrong. As physicians and parents, who want our own children to be fine, we do not want to think that this healthy 8-month-old, who does not turn to name, or have babble speech, who looks physically fine, might have anything seriously wrong with their development. Primary care providers face many obstacles that prevent them from diagnosing autism and other developmental disabilities earlier. Some are external to providers: the pressure to do more in less time, the time demand of electronic medical records, and protocols and algorithms figured out by others but expected of us to do. I’m confident that you can add to this list. Most of these are not things we can change, so we need to focus on the things that are within ourselves that we have the power to change that might present barriers to diagnosis. There are also several myths about whether a child has autism or not, which still persist, which can lead to our overlooking a child with ASD.  I’m confident that you can overcome these challenges to help children with autism and their families. It is so easy and tempting to respond to parental questions about development by saying “Let’s wait and see,” almost as a reflex. I’ve heard myself say this to a parent, even though I try never to do this without data. Just as with any other chief complaint, we need to get pertinent history, exam, and other types of data before we reassure. We have to overcome the “wait and see” approach to developmental questions. If a parent is concerned, we should be too. If a parent isn’t concerned, but we are, we have to talk about it. If you see something, say something applies to this situation. If a parent expresses any kind of concern, or the child fails an office developmental screener, we must evaluate the child and get some data. The Birth-to-Three programs will provide a developmental screening. However, these programs have trained staff, who are limited in the time they can spend with one child, and like any © Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_2

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other screening process should not have the last word. If the concern is speech delay, check the child’s hearing and have a pediatric speech and language therapist do a full assessment. If the child scores well on all aspects of communication, then you can rightfully reassure a parent that this is “within normal limits.” If a parent comes in concerned about their child looking pale, we would never say, “Oh, a lot of children in Wisconsin are pale” without some kind of data, even if it is true. The same holds for all developmental conditions. We need some kind of data before we reassure a parent. Obstacles to Diagnosis The following reviews some of the thoughts and beliefs that act as barriers to developmental diagnosis: “All children develop at different rates.” I have heard this frequently from pediatricians and parents, and it seems to be something we believe, whether we have data or not. Developmental milestones all have a −2 and +2 SD that demarcates normal from delayed and normal from precocious. Minus 1 SD gives us the boundary between “average” and “below average.” While the average child walks around 1 year of age, the 2SD range is 7 months to 17 months. So if a child is 18 months and not walking, that milestone, greater than 2 standard deviations below the mean, is delayed. The average child has one word by 1  year. By 16  months, children should have one meaningful word besides mama and dada, or else they are delayed. I have heard pediatricians say to one of their patient’s concerned parents, “Well, lots of kids don’t talk at 2 years.” It is true that there are 2-year-olds who are not yet talking who may turn out to be developmentally fine. However, if you took 100 2-year-olds who are not talking, the percentage of pathology would be very high, high enough to pay attention to this symptom. “I think I can eyeball development.” Some very experienced providers probably can, but there is an old study that challenged this statement. It showed that 50% of pediatricians missed 50% of what was then called “mild mental retardation” [1]. As noted above, we don’t eyeball anything else without some data. This will be covered in more detail in Section II about diagnosing ASD. “Any developmental issue takes too much time.” If your clinic uses a routine developmental screening tool, you can talk with the parent about the results. If concerns persist, and you do not do your own developmental assessment, refer the child to a 0–3 program, which will do some more developmental screening, or to developmental therapists (speech and language pathologists, physical therapists, occupational therapists) who can assess communication, gross motor, or fine motor skills. If the child is over 3 years, refer to the local school district. Then schedule a longer appointment with the family after these are done to discuss the results. Yes, it takes time to address developmental issues, but if we do, we can help families get on the right path early, when brain development is the most active. “I don’t feel comfortable talking about development with parents.” Knowledge gives us comfort. This is one of the major points of this book, that, just like any other area, you can learn the skills you need to feel much more comfortable with developmental issues. About 2–3% of your practice will have children with global developmental delays (often a precursor to an intellectual disability diagnosis), and about 1–2% of your practice will be children with ASD and many more,

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possibly 10–15%, with milder developmental diagnoses, like ADHD or speech and language problems or behavioral challenges. These issues will come up often enough that it is worth the time to learn what to do. Appendix A has a section on frequently asked parent questions, and ways to talk about them, if autism/ASD is the diagnosis. “I don’t want to find developmental problems in my patients.” This may not be something you think you believe, but when second-year pediatric residents start my rotation in developmental and behavioral pediatrics, they inevitably err on the side of not seeing things that are right in front of them. We (as a group) do not like to think that the children we care for might be developmentally disabled. I believe that part of this comes from the fact that we have been valued our whole lives for being “smart” and that we want our own children, and by extension, our patients, to be like us. We think that having a child with a developmental disability is the worst thing that could happen, because, I’ve been told, “Even cancer can be cured,” as evidence that my subspecialty is “worse” than theirs. There is no “cure” for autism or any developmental disorder, but there is so much that can be done to optimize a child’s developmental outcome. Helping families get on the track to appropriate therapy, understand their child, and know that they are all doing their best are very important goals. I remember one pediatric subspecialist, who felt that autism was the single worst thing he could tell a family, who was in tears when he had to tell parents their child’s diagnosis. This could be the worst thing to some families, but we don’t really know how individual parents may rate cancer vs autism vs any other condition of childhood until we talk about it with them. Most parents want to know how to help their child, regardless of what you call it. Crying about this only convinces the parent that this MUST be the worst thing that can happen. Another barrier is that we are trained to tell sick from healthy, well from unwell, and most children with ASD look very healthy. Although reviews have shown higher utilization of healthcare services for children with ASD compared to a control population [2], it is not necessarily because they are “sick.” Liptak also found increased utilization but documented that visits often involved medication management, psychotherapy, or home healthcare [3]. When we look at most of these children, nothing “appears” wrong. They are growing, and the majority of children with ASD do not have visibly identifiable syndromes or neurologic impairment, so everything looks fine. Of course there are exceptions to this, but children with health or genetic problems tend to find their way to subspecialty care earlier than children who are physically fine. ASD does not make children sick. Autism is a disorder, not a disease. Healthy children with ASD may not see anyone besides their primary care provider. “They passed their developmental screeners, so they don’t have autism.” No developmental screener will identify everyone with ASD or developmental delays. As you know, screening tools are used on the general population and have a certain level of specificity and sensitivity. Good developmental screening tools operate in the 70’s and 80’s percentage range for sensitivity and specificity. Brain development is ­complex, and we will never have a screen that has numbers like a

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lab test. This means that there are many children who escape screening detection but who have conditions like ASD. In general, children with ASD who have higher IQ scores may be missed by screens. Females with ASD also are picked up later than boys, so much so that the sex ratio of male/female of 4–5/1 that I have used until this past year, may be quite wrong, as information about diagnosing girls with ASD emerges [4]. “The parents are in denial.” You may be the first person to have concerns about a child’s development. It is naturally scary for a parent to be told for the first time that a professional like yourself is wondering if their child is disabled. Your questions around development can lead to the following types of responses from parents: • • • • •

I think he is fine. His father (uncle, cousin, etc.) didn’t talk until he was 3 and he’s fine. Every child develops at their own rate (see above). His mother is worried, but I’m not. Anger towards you.

Anger, fear, and anxiety are normal responses to a diagnosis or even the suspicion of a diagnosis. Denial itself is a normal human reaction to something terrifying. It can be a necessary reaction, an emotional front that allows a person to develop the strength they need for the long haul (Talk by Ken Moses, early 1980s). Denial is not pathological if the parent does not believe you, but goes ahead and takes the child to speech therapy, or agrees to a referral to a subspecialist. Pathologic denial prevents the child from accessing appropriate services. “Autism is just a trendy diagnosis.” Now that the latest estimate of ASD is about 2% of all children, it certainly does seem trendy. Everything we study becomes more prevalent over time, including Alzheimer’s, Parkinson’s, and traumatic brain injury, but ASD is now a very common diagnosis. I wonder whether we expect more social skills out of children now compared to when I was growing up. I was not in any situation with other children until I went to kindergarten. Now children who leave the infant room at daycare are expected to be OK in a room full of other little children. Those who are not come to attention much sooner. I see ASD as this generation’s “mental retardation (MR).” In the 1970s and 1980s, anyone who tested with an IQ below 70 and had delayed adaptive skills got the diagnosis of MR. It was the major developmental diagnosis we made. We could not explain why some children with this diagnosis were early readers or had other unexpected talents. In retrospect, many of those children had ASD and may also have had MR, now called intellectual disability or ID. The diagnosis of either autism or MR at the time did not lead to any specific interventions other than what the public schools could provide. Now that a diagnosis of ASD often leads to intensive and extensive interventions, I think there is more pressure to find autism, which can lead to more treatment options. It seems as if the only question parents can ask developmental specialists these days is “Does my child have autism?” We know that intellectual disability is not a diagnosis we should make before 6–8 years of age, and parents rarely ask about that possibility. A younger child may have a diagnosis of “global developmental delay,” but this lacks satisfaction and does not open doors to many services. “There are not enough developmental specialists and their waiting lists are unacceptable.” This is very true and confirmed by a recent review of the shortage of

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developmental and behavioral pediatricians [5]. I often speculate on why pediatric residents do not choose this field of study for fellowship training. My guesses include the fact that we have no diagnostic procedures to perform and initial visits generally run 1.5–2 hours. This limits our income potential and therefore our ability to pay back student loans. We lack the glamour of emergency consultation, as the conditions we diagnose are lifelong and nothing we do will change in the next urgent minute. Our waiting lists in our autism diagnostic clinic were too long, at times, depending on the status of colleagues, from 6–12 months, at best 3–6 months. A number of professionals with terminal degrees (MDs or PhDs) can make autism diagnoses. The state of Wisconsin autism insurance mandate recognizes pediatricians, family medicine physicians, pediatric neurologists, child psychiatrists, child psychologists, and pediatric neuropsychologists as those whose diagnoses they would cover. I believe that other primary care providers, such as pediatric nurse practitioners and physician assistants, are also capable. One local health insurer hired their own child psychologist (someone from our clinic) to provide autism assessments to their provider group, an option that allowed primary care providers to refer and get diagnoses for their patients in a few weeks. You do not need a specific degree to diagnose autism. “I don’t want to be wrong.” We all have an appropriate fear of misdiagnosis that we will label a child with a diagnosis that is not correct. For many medical conditions, that mistake could lead to a fatal outcome. However, in developmental conditions, the mistake does not lead to irrevocable results. First, consider that a developmental diagnosis of autism spectrum disorder is not confirmable by medical or psychological testing. Clinicians all draw the line between autistic and non-autistic at different places along the spectrum. I knew a pediatric specialist, who wanted a child to present with all diagnostic criteria or would not make that call. That person was not wrong because there is no way to say for sure either way. The consequence of not diagnosing most of the children you see with ASD is lack of direction to appropriate services, parental frustration, or continued lack of parental understanding. The real world is not so clear, and there is an overlap of every symptom of autism with the non-autistic population (Fig. 1.4, Chap. 1). Clinicians who make ASD diagnoses all draw their lines at slightly different places (Fig. 2.1).

Fig. 2.1  Where diagnosticians draw their lines

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I draw my line within the overlap between autistic and non-autistic. I risk overcalling a few children and undercalling a few children, but know that most of my diagnoses are correct, according to today’s understanding. I know that both have happened to me, but nothing terrible happened because of it. Children who are in the overlap area are not functioning like most other children their age, whether they have ASD or not. It is important to refer all of those children to special education services and developmental therapies. I did not tell those ­parents that “there is nothing wrong,” or “he’s fine.” I told parents that “Your child has some symptoms of an ASD, but I cannot tell right now. There are many things you can do to help your child improve their skills.” Children in the overlap area, who do not have ASD, may have another developmental condition such as intellectual disability, ADHD, or language disorder. They will still benefit from developmental help. The biggest difference in whether a child’s diagnosis of ASD is made or not is in their ability to access therapy. We will talk more about autism intervention in a later chapter, but depending on where you live, getting a diagnosis of ASD can lead to up to 35  hours a week of early intensive behavioral intervention, speech and language therapy, and occupational therapy. If a child has “global developmental delays” instead and nothing else, then they qualify for whatever your Birth-toThree program offers (usually 1 hour per week with a selected therapist), or for children over 3 years, whatever the school district offers (could be up to 15 hours/ week of classroom experience or support provided in other locations). Medical insurance often does not cover developmental therapy, unless the child has an ASD diagnosis. I believe that early intensive behavioral intervention (EIBI) would help ALL children who are experiencing developmental challenges. This is not rocket science. If someone worked with you for 35 hours per week on anything you were not good at, you would be much better at that skill by the end of therapy. (I might even be able to play tennis.) There has not been much research into the question of whether EIBI would treat conditions other than autism. I can guess why, but it would be total speculation. What I know is that EIBI is not available to anyone who does not have an ASD diagnosis. If I am on the fence about an ASD diagnosis, I will explain that to parents and explain that their child could get more help with the diagnosis. Most parents understand the situation, and most prefer that their child gets help, regardless of what you call it. This strategy could also contribute to the increasing numbers of diagnoses of ASD. Myths About Autism  There are some beliefs that persist in our psyches that have the quality of myth but, like myths, are not true. If a child makes eye contact with the mother, this child does not have autism  Eye contact is a reciprocal social event. Most children with ASD do not respond easily to social attempts to get their eye contact, but if they do, that still does not rule out

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the diagnosis. None of the diagnostic criteria needs to meet an “all or none” standard. You are looking for impairment in eye contact, not total absence. If a child plays peekaboo with you, that child does not have autism  I just heard an excellent primary care pediatrician say this, and I think he is not alone in this belief. At times, a child with autism has learned the game of “peekaboo” and will respond to your attempt to play this baby game. Playing peekaboo once in the office does not rule out ASD. I have observed children with ASD, who will respond to peekaboo with me better at a distance, but if I get up too close, they will not engage. I believe that physical distance creates more social comfort, and less social anxiety, which may also be a factor in the preference for Internet connections over in-person play. If a child is very smart, that child cannot have autism OR All children with autism are very smart  In the past, we only diagnosed the most severe cases of autism. It was very common for children with autism diagnoses to also have (then) mental retardation. We used the figure of “75%” at the time. With more mildly affected children now included on the spectrum, that percentage has dropped considerably. But IQ was never part of the diagnosis, 30 years ago or now. Whether a parent says “She is VERY smart” or you yourself have IQ testing in front of you, this is not relevant to whether the child has autism or not. The signs of autism present much differently if your IQ is high or low, which has led to the vernacular terms “high-functioning” and “low-functioning” autism. These categories do not actually exist, and high-functioning can be determined by the authors of a paper, using an IQ of 60, 75, or 100 as the cut-off. Generally speaking, “low-functioning” children are often nonverbal and have IQ’s in the intellectually disabled range. If a child shows affection to the mother, that child cannot have autism  There were actually studies done to show that a child with autism preferred their mother over office furniture (a file cabinet to be exact). Children with autism know that their needs are met by parents and that these adults fix things or give them what they want. It looks and feels like affection when a child with autism is nursing and they twirl their fingers through mom’s hair. Many children with ASD can be comforted by their parents. Some are more self-contained. Either way, a child showing affection to mom during an office visit does not rule out ASD. The child conversed with me. We had a nice conversation about a favorite Pokémon character, so this child cannot have autism  I did not fully understand the term “conversational reciprocity” until I took a course to learn to use the Autism Diagnostic Observation Schedule (known as the ADOS, pronounced “A-doss”), the gold standard for diagnostic tests in ASD. That was in 1999, about 20 years after I started working as a developmental pediatrician. If you find a child’s passion and start asking questions about it, most verbal children with ASD are eager to

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answer. Answering questions, especially ones that relate to specific information regarding their special interest, is not a conversation. A conversation, I learned, needs to go both ways. They should ask, “Do you know Pokémon?” or “Who is your favorite Pokémon?”. That has never happened to me with a child with ASD. They should also be able to talk about the play you are doing or the story you could be reading together. In the ADOS, one test item is to make a statement such as “I like vanilla ice cream” and then stop talking. Even if the pause is socially uncomfortable, don’t add an easy question such as “What do you like?” You are trying to see a child’s reaction to a statement. Typically developing children are more likely to meet you halfway and say, “I really like strawberry.” Most children with ASD will not respond to statements that you make or show interest in your interests, thoughts, or feelings. A diagnosis of ASD can be reliably made in the hospital  I know it seems obvious that you can’t diagnose a social impairment in a sick child, but I have been asked to do inpatient consults regarding possible autism, and I did it once, a long time ago. I saw a 4-year-old who was in the hospital, who was very withdrawn, and had some language delays. He met diagnostic criteria for autism in the hospital, but when I saw him in a follow-up in the clinic, he was a different child. He still had delays, but his sociability improved to 100%. I subsequently declined to do inpatient consults because social skills cannot be assessed under these circumstances of stress. If a child has another diagnosis like cerebral palsy, that child can’t have a diagnosis of autism  A child can have as many developmental diagnoses for which they meet criteria. I tend to be a “lumper” regarding diagnosing and see the anxiety or impulsivity to be secondary to the ASD instead of separate diagnoses. However, it is sometimes useful to use all that apply. This “splitter” approach, using everything that is appropriate, can sometimes let others know that this child has many challenges, help the child receive more support or resources, or direct the child to diagnosis-­specific interventions, such as for anxiety.

References 1. Daily DK, Ardinger HH, Physician GHAF. Identification and evaluation of mental retardation. 2000. europepmc.org. 2. Croen LA, Najjar DV, Ray GT, Lotspeich L, Bernal P. A comparison of health care utilization and costs of children with and without autism spectrum disorders in a large group-model health plan. Pediatrics. American Academy of Pediatrics. 2006;118(4):e1203–11. 3. Liptak GS, Stuart T, Auinger P. Health care utilization and expenditures for children with autism: data from U.S. national samples. J Autism Dev Disord. Springer US. 2006;36(7): 871–9.

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4. Ratto AB, Kenworthy L, Yerys BE, Bascom J, Wieckowski AT, White SW, et al. What about the girls? Sex-based differences in autistic traits and adaptive skills. J Autism Dev Disord. 4 ed. Springer US. 2017;34(1):413–4. 5. Bridgemohan C, Bauer NS, Nielsen BA, DeBattista A, Ruch-Ross HS, Paul LB, et al. A workforce survey on developmental-behavioral pediatrics. Pediatrics. 2018;141(3):e20172164.

Chapter 3

Autism Screening and Early Identification: If You See Something, Say Something

Autism Screening The American Academy of Pediatrics has been recommending routine screening for ASD at 18 and 24 months since 2007. Although the AAP does not endorse any one tool, the most commonly used screener has been the Modified Checklist for Autism in Toddlers or MCHAT. A detailed review of autism screening tools can be found in a Supplement to Pediatrics from October 2015, by a committee headed by Lonnie Zwaigenbaum and Margaret Bauman, two well-known autism researchers. This special review came down squarely on the side of screening: “Evidence supports the usefulness of ASD-specific screening at 18 and 24 months. ASD screening before 24 months may be associated with higher false-positive rates than screening at or after 24 months, but may still be informative.” [1]

What follows is my take on developmental and autism screening in primary care offices. We do not yet have universal developmental and autism screening in all primary care offices. A small handful of articles have come out against screening, which can be used by those who do not wish to engage in screening. Common sense argues that early detection of developmental risk can lead to parents working on certain skills, while the child’s brain is rapidly developing. I do not see a logical reason not to screen for both developmental delays and autism spectrum disorder. If you are not convinced that this is a truism, there are excellent reviews on the topic. Regarding our topic of ASD, I particularly like Geraldine Dawson’s article “Early behavioral intervention, brain plasticity and the prevention of autism spectrum disorder” [2]. The goal of all screeners is to identify as many individuals at high risk for the target condition as possible (sensitivity), to avoid over-identifying (false positives) and to correctly identify those who are not at risk as not affected (specificity). Because of the complexity of brain development and how differences are expressed in individual children based on both genetics and environmental factors © Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_3

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(both p­ hysical and experiential), developmental screeners will never reach the sensitivity and specificity of a laboratory value. However, there are some tools that are better than others, and some are easier to use than others. A brief and personal history of developmental screening: When I started out in developmental pediatrics, one of my goals was to convince general pediatricians that they should routinely use validated developmental screeners at each health supervision visit. I based this goal on articles that informed us that we were not good at eyeballing development and would miss 50% of all children with mild (then) mental retardation [3]. Birth-to-Three programs were emerging and would work closely with parents on identified concerns. I was pretty unsuccessful in my quest. At that time in our general pediatric clinics, the developmental “screen” consisted of a list of six questions per age, for which the provider checked “yes” or “no.” There was no indication whether these milestones were set at the 50th percentile nor any indication how many “no” would trigger further evaluation. It was used more as a teaching tool for medical students and residents to know what to ask at each visit. Each pediatrician had their own way of deciding which of their patients needed developmental assessment, using their own, individual criteria. I became a Master Trainer for the Denver II, the second incarnation of the original Denver Developmental Screening Test. The “Denver,” developed by Dr. Bill Frankenburg (1930–2009) at the University of Colorado, was the only developmental screener routinely accessible to primary care providers. Very few providers knew that the Denver was a standardized test involving 125 items, each of which had to be administered in a specific way, with specific materials, and that there were criteria for passing and failing an item and for passing and failing the whole screen. Most people who even attempted the Denver pretty much took out the Denver kit toys and used them to play with the child for a few minutes. Some might have asked the questions that touched the age line of the child, even though many of those items could not be scored “by report.” Needless to say, the utility of the Denver was highly variable. Worse yet, even when the test was done according to standards, it took 15–20  minutes for each test, and had very poor sensitivity (50–60th percentile), especially for language items [4]. This situation persisted through the 2000s, when Sand and colleagues, including Frances Glascoe, a well-known and vocal proponent of developmental screening, surveyed pediatric offices and found that only 23% used any kind of standardized developmental screener [5]. Glascoe had developed the PEDS (Parent Evaluation of Developmental Status), which had very good statistics. Harry Ireton developed the Child Development Review, which had about the same numbers as the PEDS, and I liked both very much and taught both to pediatric residents for years. Then entered the electronic medical record. For all its many faults, from my perspective, the one good thing that happened in our institution was that developmental screeners could be made a part of every health supervision visit in pediatrics. I’m not sure why our practice chose the Ages and Stages Questionnaire or ASQ as their preferred general developmental screener, but they did, and the medical assistants in our clinic became responsible for administering the items or taking ­parent-­filled forms and entering the findings into the system, which then scored the

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test. Pediatricians then only had to respond to the questionable or positive results, and finally, developmental screening was happening in all of our pediatric offices. The percent of our offices using standardized developmental screeners reached nearly 100% overnight. However, how primary care providers respond to developmental screen results varies widely. King et al. calculated rates of screening and referral and found that while the practices involved screened more than 85% of patients who came to screening visits, only 61% of children with failed screens got referred for evaluation. “Many practices struggled to track their referrals. Those that did found that many families did not follow through with recommended referrals” [6]. My own experience suggests that regardless of screen results, many providers make their own decision about whether this failed screen is really significant or true. Because of the obstacles discussed in the previous chapter, we trust our instincts more than validated instruments. The American Academy of Pediatrics (AAP) also began to recommend autism screening following articles that developed algorithms, suggesting the best ways to identify autism and to do it as early as possible. An early set of recommendations from a collaboration of about nine professional and four parent organizations, headed by pediatric neurologist Pauline Filipek, offered what I thought was very practical advice. (See Box 3.1.) [7] Several screening tools have emerged, some of which have been extensively studied, like the MCHAT, and some of which are newer, with the goal to identify as early as possible, but with fewer validation studies as yet. AAP recommends specific autism screening at 18 and 24 months. Our institution uses the MCHAT-Revised. We also cannot underestimate the power of parental concern. A parent, who brings a concern to a primary care provider, may increase the value of screening tests [8, 9]. In my experience, parents will be the earliest detectors of “something different” in their child. They may not be able to express their concern as “lack of social reciprocity,” but they may say, “He’s 15 months and not walking” or “His brothers talked by now,” which can be easily swept away by reassurances from us. In retrospect, parents often tell me that they mentioned their concerns to their PCP early, from infancy onward, but were told that their child “looks fine.” I would like to briefly review some of the screening tools for autism spectrum disorder and what we know about the pros and cons. I have ordered them according to ease of use first and then what we know about the value. I always think ease of use determines use at all, which is why the Denver never caught on.

Box 3.1 [Filipek Criteria]: Absolute Indicators for an Autism Evaluation • No babbling by 12 months • No pointing or other gestures by 12 months • No single words by 16 months • No two-word spontaneous phrases by 24 months • Any loss of Any language or social skill at Any age [7]

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Using the Goldilocks and the Three Bears analogy, these tools to my eye have TOO MUCH (or are too long for a primary screener): • BISCUIT (Baby and Infant Screen for Children with aUtIsm Traits): 62–71 items, both by parent report and some observational aspects, depending on article. This was published in 2009 and had excellent sensitivity (84.7) and specificity (86.4) but needs further validation studies. I think it would be hard to insist that all parents answer 70 questions just for the autism screening, but this tool may be useful for high-risk populations such as infant siblings of children with ASD, or as a second-level screener (what to do if the primary screener is failed) [10]. • SCQ (the Social Communication Questionnaire): This is a 40-item questionnaire based on the ADI-R (Autism Diagnostic Interview-Revised), the gold-standard interview tool, and the long form used primarily by researchers. The SCQ is better at diagnosing older children, 8–10 years old, than younger children, under 5. The screen is considered positive, if the total score is at or above 15, but there are recommendations to use the SCQ along with another screener, so this should not be used alone [11].

These Are Just Right MCHAT  The Modified Checklist for Autism in Toddlers is the best known of all autism screeners. First developed in England, with very British questions asking about how the child shared their tea, it was validated on 16,000 children in several counties in England [12].This level of cooperation was possible because of the national health service program in Great Britain. A similar but smaller effort was completed by Robins et al. [13]. This is a parent report tool, with 23 items. Six items are considered critical. If a parent answers “no” to a question like “Is your child interested in other children?” that is a critical “no.” If a child fails two critical items or three overall, then that is a “failed screen.” The critical items include: • • • • • •

Is your child interested in other children? Does your child use his/her finger to point, to indicate interest? Does your child ever bring objects over to you (parent) to show you something? Does your child imitate you? Does your child respond to his/her name if you call? If you point to a toy across the room, does your child look at it?

At first, this was to lead to referral for autism evaluation. The MCHAT was modified to the MCHAT-R (revised). Another study by Robins found that a follow-up interview after a failed screen could clarify items that parents perhaps did not understand or did not answer. This 5–10-minute follow-up interview increased the statistics on the test, which has become the standard for best use, the MCHAT-R/F [14].

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The BITSEA (Brief Infant-Toddler Social and Emotional Assessment) is a condensed version of the ITSEA, developed by Briggs-Gowan and Carter, which was designed to be used in primary care offices and screens for a variety of concerns regarding social-emotional development and can be used between 12 months up to the 3rd birthday. 17 out of the 42 questions pertain to autism. This is the only screener I know of that looks at a broad range of social-emotional issues and communication development. This could also be a second-level screener, after one of the others raises questions [15]. The authors of the Psychological Development Questionnaire-1, or PDQ-1, developed a ten-question screener focused on social referencing and communication in children 18–36 months. Each item can score 0, 1, or 2. A total score of 3 or more indicates further evaluation is needed [16]. The PDQ-1 asks if my child: 1. Points or gestures to show interest or get others attention 2. Has unusual or variable response to sound (seems not to hear or is oversensitive or overreacts) 3. Smiles or makes regular eye contact with others 4. Responds to name when called 5. Shows interest in children at play 6. Enjoys doing handshake or peekaboo 7. Relates to others by babbling, gesturing, talking, or changing expressions 8. Uses three or more words regularly and appropriately 9. Speaks in phrases (e.g., want juice, go bye-bye) 10. Laughs when others laugh The abbreviated BISCUIT (Baby and Infant Screen for Children with aUtIsm Traits) (six items): Paige E. Cervantes, Johnny Matson, and Jason Peters sought to develop a “time-efficient screener with sound psychometric properties” and abbreviated the lengthy BISCUIT to six items, (each with a 0-1-2 score) with a total cutoff score of 3. For children from 18 to 24 months, the test yielded a sensitivity of 0.96 and specificity of 0.86 [17]. Box 3.2 [The items used in the abbreviated BISCUIT include: Maintains eye contact Uses nonverbal communication Social interactions with others his/her age Development of social relationships Abnormal preoccupation with parts of an object or object Engages in repetitive motor movements for no reason]

SCREENER THAT IS PROBABLY “NOT ENOUGH”: One sign to rule them all could be “response to name.”

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3  Autism Screening and Early Identification: If You See Something, Say Something

Miller studied children from 6 to 24  months using “response to name” as the single question to try to identify children with ASD as early as possible. They compared a high-risk (infant sibling) group to a low-risk, community-based sample. At 9 months of age, “infants developing ASD were more likely to fail to orient to their names, persisting through 24 months.” While this question shows up as important in several autism screeners, and maybe it is the best single question, I very much doubt that one question will be sufficient in this quest [18].

Way Too Little: Do Nothing Don’t do anything? In February 2016, the US Preventive Services Task Force (USPSTF) published a recommendation statement [19] that concluded that “current evidence is insufficient to assess the balance of benefits and harms of screening for ASD in young children, for whom no concerns of ASD have been raised by parents or a clinician.” They did not recommend against screening but stated that there was “insufficient evidence” to screen a low-risk population. This created a backlash from organizations which support universal autism screening, including the American Academy of Pediatrics (AAP) and Society for Developmental and Behavioral Medicine (SDBM). The only screening tool studied was a version of the MCHAT, so the evaluation is really MCHAT specific. It also only looked at autism detection, when more recent studies are suggesting that early identification from failed autism screeners may also find children with other neurodevelopmental conditions, who would also benefit from early intervention. Toh et al. looked at over 19, 000 toddlers in Malaysia and found the utility of using the MCHAT to identify children with ASD and other neurodevelopmental conditions [20]. When Developmental Screens Miss ASD: Eighty-one percent of 124 children undergoing ASD evaluation were diagnosed with ASD.  Eighty-five percent were picked up by the MCHAT-R.  Those missed had generally higher developmental levels and lower autism test scores. If the MCHAT-R was combined with the ASQ-3 (Ages and Stages Questionnaire-3), a general developmental screener, 93% of children with ASD would have been identified. “Parent reported concerns on an open-­ ended questionnaire revealed ASD red flags for many missed cases” [21].

Best Advice Our medical model is based on first finding a diagnosis and then offering treatment. While this works well with almost everything we do, when we are dealing with developmental conditions, there is often a significant delay between first parent concern (14–15 month average), first clinician concern (18–24 months), and first formal diagnosis by a specialist (2–4 years or later). As this process unfolds, the child’s window of brain plasticity is closing. Our opportunities to modify the course of

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development are shrinking. I have suggested in talks to act on concerns as soon as possible, and to recommend developmental therapies, even before a formal diagnosis of anything can be made. I have never read this in print until the Elizabeth Usher Memorial Lecture of 2017, where the author recommended just that: treat before diagnosis can be confirmed [22]. This strategy is in the child’s best interests. Give parents the tools to move their child’s development in a positive direction. The major barrier is often the cost of developmental therapy and the unwillingness of third-party payers to cover a “delay.” We need a new generation of advocates to convince third-party payers that helping children with developmental vulnerabilities as early as possible in life will lead to the best outcomes and lowest cost for all. A home program developed by a therapist for a family, with periodic checkups, could be cost-effective and still help parents and children. Early Identification  This bears repeating—if you see something, say something. And if a parent raises a concern about development early on, get some data on which to base a decision. It is never too early to identify developmental delays. Awareness leads to intervention, whether it is educating a parent about the value of reading to their child or an intensive behavioral program for autism that will take 35  hours per week. Reassuring a parent without data, or “waiting until the next visit,” wastes precious time of early brain development, a window that is only open for so long. Signs of ASD can emerge very early in life. Some children are different from birth. A child may be self-content from birth. They may be very passive babies, who are content to look at their hands, who do not offer many facial expressions or seem to need their parents as much as other babies. They can also be very irritable babies. These are often the babies with significant sensory differences, who are not tolerating the world like others. Babies with ASD can have eye contact and social smiling, but may have hypotonia, head lag, and delayed or atypical motor patterns. Parents may report unusual and repetitive hand movements that date back to infancy. Research on early identification has focused on two types of studies: 1 . Retrospective review of home videos of 1-year-old and 1–2-year-old children 2. Prospective evaluation of infant siblings of children with ASD, who are at much higher risk than the general population Reviews of 1-year-old videos of children eventually diagnosed with ASD have shown differences noted by blinded observers, including a decreased need for parental involvement, decreased turning to name, decreased vocalizations, decreased use of gestures, and presence of repetitive motor behaviors or mouthing of objects [23]. Infant sibling research has found two patterns of autism emergence: 1 . Early onset, where symptoms are present from early infancy 2. Regressive onset, when symptoms are first recognized when there is a loss of language or social skills, usually in the 18–24-month range

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3  Autism Screening and Early Identification: If You See Something, Say Something

There is good evidence to say that babies at 6  months who go on to develop autism may look indistinguishable from typically developing babies at the same age [24]. Some babies would be clearly on the way to an ASD diagnosis at that age, but many would not. Regardless, a diagnosis of autism specifically cannot be made with confidence at 1 year of age. Story [I got an urgent call from a pediatric office asking for my advice about a 6-month-old baby who cried intensely for the past 6 months. Neither parent nor 5-year-old sibling had slept through the night that entire time. The parents had gone to the PCP’s office multiple times, feeling that there had to be something causing pain, or some medical reason for this crying. The baby was thriving, at the 90th percentile for all parameters. The PCP could not find any physical reason for the crying and eventually told the parents to put the baby in a downstairs bedroom, close the door, and go upstairs and go to sleep. They were not allowed to have a baby monitor on. By the time I saw them 4 weeks later, parents looked rested. The baby, who screamed all the time, of course, was very quiet during our 1 hour together. She was very passive, with a “serious” expression described by her mom. At 7 months, parents had seen her smile, but not to them, and had not heard her laugh. She would hold objects and look at them closely, turning them around in her hands. On exam, I could not get this baby’s attention. She was completely focused on my gold Kermit the Frog watch, and could isolate her index finger to flick at the band, an advanced fine motor skill. She did not smile. She had delayed motor milestones and was only beginning to roll. She had low tone. Although insurance prevented me from following her, this is a typical presentation of a passive baby on the path toward an autism diagnosis.]

The child who presents with developmental regression: About 1/3 of children with ASD will have a history of loss of words. Usually, the child has two or three words that they use, sometimes with meaning but usually not to request, but after a time, stops using them. There are children who can lose 100–200 words (personal case), which are mostly nouns. Because this loss is often noticed around 18 months, the immunization that happened around the same time gets linked to the regression in the parent’s mind. When I was first in practice, the DPT was given around 18 months, and parents came in convinced that that shot caused the loss of words. More recently MMR was given around this time and received the brunt of concerns. Now that we know that immunizations do not cause autism, we can think more about other possibilities. I have come to believe that many a child with ASD can develop words, but that for those children the words don’t have the same social

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meaning to them, and they stop using them for that reason. The child with ASD may not notice or value the parent’s excited response to their use of words or may not understand that words can be used to get what they want. The child with ASD is often very good at labeling, and that is why there are so many nouns in these first words. Labeling is not the same thing as using language for social purposes. Because of the lack of a positive feedback loop, the child may stop talking. There are children who appear to lose meaningful language, even appropriate sentences, but this is less common in my experience.

Story [I once cared for a little girl who, in the days following her DPT immunization, lost developmental skills quickly, over 3  days. She lost language and motor skills. The father was convinced that the DPT shot caused his daughter’s autism and global delays. The child developed stereotypic hand-­wringing movements, typical in Rett syndrome. When the gene test became available, the girl tested positive for one of the common Rett syndrome mutations. She was born with the potential for developmental regression. Something that happens on day 1 does not necessarily cause whatever happens on day 2.] During autistic regression of early childhood, a child can lose other developmental skills, including receptive language (they stop turning to their name or following verbal requests), play, social skills, and, more unusually, either fine or gross motor skills. Under DSM-IV, children who lost two or more areas of function between 2 and 10  years received a diagnosis of “childhood disintegrative disorder (CDD),” previously called Heller’s dementia (1908). The prognosis for CDD was uniformly poor, with little hope of skill recovery. Once our state stopped providing funds for autism services if the child had a CDD diagnosis, then the children lost access to treatment. We stopped using CDD as a diagnosis. It was dropped by the DSM-5 completely. This story of regression is now considered part of the evolution of ASD for some children. When I interview parents who report a history of regression, I can almost always find differences that predate the loss of skills. They may have had a poor latch and suck or been late to sit up or crawl. They may have had a word for “mama” but not used it to get the parent’s attention. They may not have used typical social gestures like raising hands to be picked up or waving bye-bye before 1 year. They may not have turned to their names. They may have said but not used words to get their needs met. The main exception to this occurs when parents truly believe that “something happened” (usually an immunization) at 18 months, which they then believe is the reason for their child’s autism. Those parents usually say “everything was fine before that shot,” that their child was completely normal. There is often a defensiveness about that statement that precludes further discussion.

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3  Autism Screening and Early Identification: If You See Something, Say Something

It is beyond the scope of this book to justify the principle that early intervention leads to better outcomes for children. It makes sense based on what we know about children and brain development. Children who do not get exposed to much language or reading are behind by the time they enter school. The implication of that is if we only intervened earlier, that child would be competitive with other children their age. It is the basis of the Reach Out and Read programs, which you may have in your locale. It makes sense to me that even infants, or perhaps, especially infants, can get help that could put them on a better path. Research on baby siblings of children with ASD, who are at higher risk of also having ASD (24.7% versus the 1–2% of the population), has identified differences in babies, as early as 4–6 months, who will go on to have ASD. In an infant laboratory, the time it takes for a baby to turn to a new visual stimulus is longer than the time it takes for babies who will not have ASD, who generally respond right away to something new in their visual fields [25]. Imagine that the new stimulus is the mother’s face. The mom comes up to her baby, who is looking at the mobile, but does not turn to her when mom’s face comes into the visual field. Moms think that “oh, he’s busy right now, I’ll come back later,” and that baby could lose many opportunities for social interaction every day. What if the mom didn’t take “not interested” for an answer? What if she got between the baby and the mobile and became the most interesting thing in the room? There is no data that tells us this strategy will prevent a child from developing autism, but isn’t it rational to think that it might alter the course? And if it could, it would be worth it? Anecdotally, I know a mom whose newborn did not make eye contact with her, and because she knew something about autism, she stayed with the baby and created more chances for that baby to interact socially. She insisted on eye contact for his first several months of life. He was a quirky child, but now a successful adult, who is professionally employed and married. Not all early identification results in a good outcome. Ami Klin published a case report about a 15-month-old girl who was identified through an infant sibling program. She had every intervention through the Yale Autism Program, where Klin was then working. She continued to progress into severe autistic symptoms [26]. Sometimes the size of the biological problem is not amenable to intervention. Fortunately, this is a minority of the children now diagnosed. It is not reliably possible to identify whether a child has autism spectrum disorder at 12  months of age, or even 12–18  months, but it is likely that a child with delays between12 and 18 months will have some developmental disorder, even if it is not possible to know for sure if that will evolve into an autism spectrum disorder, intellectual disability, or developmental language disorder. At least one study by Osterling, Dawson, and Munson concluded that review of first birthday videos could distinguish between autism, intellectual disability, and typical development by 1 year of age [27]. Two leaders in the autism field, Sally Rogers and Geraldine Dawson, would like all 1-year-olds identified as developmentally delayed in one or more major areas

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(language, cognition, or social skills) to be evaluated and referred for intervention. I know this sounds uncomfortably early; however, getting an evaluation of language or overall development does no harm: if delays exist, suggestions can be made to the parent; if the test is normal, the parent can be reassured with proper data. Close follow-up is warranted for all delayed 12-month-olds, to follow the pattern of developmental unfolding. A 1-year-old at a 9-month level is 25% delayed. This is equivalent to having an IQ of 75 instead of 100 when the child is 6. It doesn’t seem like 3 months makes such a difference, but it does. Being delayed is not like a train that travels slower than it is supposed to, an analogy I have heard from parents, telling me how their child’s delays were explained to them and why they thought their child would “catch up.” A train that travels more slowly, say from LA to Washington, DC, will get there eventually, but at a much later time than the typical train. Parents think that this means that their child is “just delayed”, and will get there eventually, when this is not true. A train that is moving at a slower than normal rate, using this analogy properly, would end up in Cleveland (my hometown). It never gets to DC.  The child keeps learning, but at their own level, as if left to explore Cleveland, when most of the other trains got to DC.  It’s not a perfect metaphor. One diagram that tends to help parents understand that the gap between their child and others generally grows with age can be found in Fig. 3.1. Most parents experience this on their own as the child ages: “He’s getting further and further behind.” The drawing gives them a way to understand why.

Global delays

4

Typical development

3 Skills (years)

Global developmental delays

2

1

0

1

2

3

4

5

Age (years)

Fig. 3.1  For a child developing at a slower rate, the gap between that child and the child developing at an average rate increases over time

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3  Autism Screening and Early Identification: If You See Something, Say Something

Early diagnosis of autism spectrum disorder can lead to parental awareness that they need to teach social skills to their child. That the challenging behaviors that develop are not due to the child being “stubborn” or “strong-willed” but because their development unfolded in a different way and that this is not the child choosing to be uncooperative nor the parents’ fault for being too permissive. ASD, as all developmental disorders, reflects differences in brain function significant enough to present a challenge to that child, family, and school. If parents were aware earlier, we could lessen the guilt, blame, and the challenges between parents. When a child does not follow the expected path, parents revert to “what worked for them” and their parents. If parents were raised very differently, this leads to conflicts between parents about what to do when Jaysen “won’t” eat, or “refuses” to be potty-trained. The child needs their parents to be on the same team, the same page, or risk increasing conflict within the home. Although there is conflicting data about the risk of divorce in families with an autistic child from no difference [28] or higher than a comparison group [29], to an oft quoted but undocumented “80%,” there is little doubt that having a child with autism creates a significant strain on the family [30]. Glasberg et al. [31] covers similar issues. “If you see something, say something” is a motto that applies to all developmental conditions.

References 1. Zwaigenbaum L, Bauman ML, Choueiri R, Fein D, Kasari C, Pierce K, et al. Early identification and interventions for autism spectrum disorder: executive summary. Pediatrics. American Academy of Pediatrics. 2015;136(Supplement 1):S1–9. 2. Dawson G. Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder. Dev Psychopathol. 2008;20(03):749–29. 3. Daily DK, Ardinger HH, Physician GHAF. Identification and evaluation of mental retardation. 2000. europepmc.org. 4. Borowitz KC, Glascoe FP. Sensitivity of the Denver Developmental Screening Test in speech and language screening. Pediatrics. American Academy of Pediatrics. 1986;78(6):1075–8. 5. Sand N, et al., Pediatricians’ reported practices regarding developmental screening: do guidelines work? Do they help? Pediatrics. 2005;116(1):174–9. 6. King TM, Tandon SD, Macias MM, Healy JA, Duncan PM, Swigonski NL, et al. Implementing developmental screening and referrals: lessons learned from a national project. Pediatrics. American Academy of Pediatrics. 2010;125(2):350–60. 7. Filipek PA, Accardo PJ, Baranek GT, Cook EH, Dawson G, Gordon B, et al. The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord. 1999;29(6):439–84. 8. Havdahl KA, Bishop SL, Surén P, Øyen A-S, Lord C, Pickles A, et al. The influence of parental concern on the utility of autism diagnostic instruments. Autism Res. 4 ed. 2017;10(10):1672–86. 9. Beauchesne MA, Kelley BR, Bernadette, MM. Pediatic Nursing BMP. Evidence to support parental concerns as an early indicator of autism in children. 2004;30(1):57–67. 10. Matson JL, Wilkins J, Sharp B, Knight C, Sevin JA, Boisjoli JA. Sensitivity and specificity of the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT): validity and cutoff scores for autism and PDD-NOS in toddlers. Res Autism Spectr Disord. 2009;3(4):924–30. 11. Corsello C, Hus V, Pickles A, Risi S, Cook EH, Leventhal BL, et  al. Between a ROC and a hard place: decision making and making decisions about using the SCQ. J Child Psychol Psychiatry. Wiley/Blackwell (10.1111). 2007;48(9):932–40.

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12. Baron-Cohen S, Cox A, Baird G, Swettenham J, Nightingale N, Morgan K, et al. Psychological markers in the detection of autism in infancy in a large population. Br J Psychiatry. 1996;168(2):158–63. 13. Robins DL, Fein D, Barton ML, Green JA. The modified checklist for autism in toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders. J Autism Dev Disord. Kluwer Academic Publishers-Plenum Publishers. 2001;31(2):131–44. 14. Robins DL, Casagrande K, Barton M, Chen C-MA, Dumont-Mathieu T, Fein D. Validation of the modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics. 2014;133(1):37–45. 15. Briggs-Gowan MJ, Carter AS, Bosson-Heenan J, Guyer AE, Horwitz SM. Are infant-toddler social-emotional and behavioral problems transient? J Am Acad Child Adolesc Psychiatry. Elsevier. 2006;45(7):849–58. 16. Zahorodny W, Shenouda J, Mehta U, Yee E, Garcia P, Rajan M, et al. Preliminary evaluation of a brief autism screener for young children. J Dev Behav Pediatr. 2018;39(3):183–91. 17. Cervantes PE, Matson JL, Peters WJ. An abbreviated scoring algorithm for the baby and infant screen for children with autism traits. Dev Neurorehabil. 2017;20(5):287–93. 18. Miller M, Iosif A-M, Hill M, Young GS, Schwichtenberg AJ, Ozonoff S. Response to name in infants developing autism spectrum disorder: a prospective study. J Pediatr. 2017;183:141. 19. Siu AL, Bibbins-Domingo K, Grossman DC, Baumann LC, Davidson KW, Ebell M, et  al. Screening for autism spectrum disorder in Young children: US preventive services task force recommendation statement. JAMA. American Medical Association. 2016;315(7):691–6. 20. Toh T-H, Tan VW-Y, Lau PS-T, Kiyu A.  Accuracy of Modified Checklist for Autism in Toddlers (M-CHAT) in detecting autism and other developmental disorders in community clinics. J Autism Dev Disord. 2018;48(1):28–35. 21. Beacham C, Reid M, Bradshaw J, Lambha M, Evans L, Gillespie S, et al. Screening for autism spectrum disorder. J Dev Behav Pediatr. 2018;39(9):673–82. 22. Whitehouse AJO.  Elizabeth Usher Memorial Lecture: rethinking the clinical pathway for autism spectrum disorder and challenging the status quo. Int J Speech Lang Pathol. 3rd ed. 2017;19:208–17. 23. Mitchell S, Brian J, Zwaigenbaum L, Roberts W, Szatmari P, Smith I, et al. Early language and communication development of infants later diagnosed with autism spectrum disorder. J Dev Behav Pediatr. 2006;27(2 Suppl):S69–78. 24. Landa R, Garrett-Mayer E. Development in infants with autism spectrum disorders: a prospective study. J Child Psychol Psychiatry. Wiley/Blackwell (10.1111). 2006;47(6):629–38. 25. Sacrey L-AR, Bryson SE, Zwaigenbaum L. Prospective examination of visual attention during play in infants at high-risk for autism spectrum disorder: a longitudinal study from 6 to 36 months of age. Behav Brain Res. 2013;256:441–50. 26. Klin A, Chawarska K, Paul R, Rubin E, Morgan T, Wiesner L, et al. Autism in a 15-month-old child. Am J Psychiatry. American Psychiatric Publishing. 2004;161(11):1981–8. 27. Osterling JA, Dawson G, Munson JA.  Early recognition of 1-year-old infants with autism spectrum disorder versus mental retardation. Dev Psychopathol. Cambridge University Press. 2002;14(2):239–51. 28. Freedman BH, Kalb LG, Zablotsky B, Stuart EA.  Relationship status among parents of children with autism spectrum disorders: a population-based study. J Autism Dev Disord. 2011;42(4):539–48. 29. Hartley SL, Barker ET, Seltzer MM, Floyd F, Greenberg J, Orsmond G, et al. The relative risk and timing of divorce in families of children with an autism spectrum disorder. J Fam Psychol. 2010;24(4):449–57. 30. Benson PR. Coping, distress, and well-being in mothers of children with autism. Res Autism Spectr Disord. Elsevier. 2010;4(2):217–28. 31. Glasberg BA, Martins M, Harris SL. Stress and coping among family members of individuals with autism. In: Stress and coping in autism. New York: Oxford University Press; 2006. p. 277–301.

Part II

Diagnosing Autism Spectrum Disorder

Chapter 4

Steps to Diagnosis and the First Minute

I recommend the following steps for getting to a diagnosis of an autism spectrum disorder: 1 . Use the first minute of the appointment: so much information. 2. Elicit a developmental history and critical milestones. 3. Review the diagnostic criteria from DSM-5. 4. The Developmental Exam: (a) Neurologic exam—key features (b) General physical exam for ASD (c) Dysmorphology exam—look for clues for a specific medical cause of the child’s ASD 5 . Compare developmental levels and sociability and make a diagnostic decision. 6. Discuss your impressions with parents, make medical recommendations and document your findings. 7. Connect your family with community resources and referrals. The order is somewhat artificial and may vary depending on the circumstances. Sometimes everything happens at the same time. Some children will not tolerate a social approach from a stranger too early in the appointment. Sometimes the window for interaction is present early, and you have to take the opportunity when it presents itself. If a child wants to show me something or seems open to play, I will do that before the history. Children with ASD cannot be coaxed into cooperation on your schedule, so take the chances that present themselves. I have had children who screamed through the entire appointment and could not be comforted by their parents or distracted by me. That also was diagnostic information but required a rescheduled visit or home visit. That was rare. I can remember four children over the past 38 years. If that does happen to you, try again. Parents can prepare children for these appointments by taking a few photos or telling a short story about what is going to happen. The next visit may be better.

© Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_4

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4  Steps to Diagnosis and the First Minute

Many practitioners wonder when they should refer a child to an autism specialty clinic. The question of referral is very dependent on your local resources, the requirements of third-party payers, and parental needs. Sometimes, the administration of a specific test is needed before an insurance company or state will pay for autism intervention. Currently, the best clinically administered test is the Autism Diagnostic Observation Schedule-2 or ADOS (pronounced “A-doss”) [1]. This requires an understanding of standardized testing and at least clinical training to administer. While developmental pediatricians may be trained, it is rare (but not prohibited) for a primary care provider to seek that training. Most commonly, an ADOS is given by a child psychologist. The other, older, test that is used is called the Childhood Autism Rating Scale, or CARS. While no longer considered the “gold standard,” it is very useful for children who are blind, visually impaired, or unable to move around. The ADOS requires both ambulation, a developmental level of at least 12  months, and the ability to see test toys and social gestures.

Box 4.1 [The Autism Diagnostic Observation Schedule-2 (ADOS-2) The ADOS [2] and now the ADOS-2 [1] is the gold-standard diagnostic test administered to children from 12 months through adulthood. It is a brilliantly conceived set of activities designed to elicit symptoms of autism spectrum disorder. It can cover all ages because there are five modules: one for toddlers, one for nonverbal children, one for children with phrase speech, one for children with fluent speech, and one for adolescents and adults. There are a set of activities for each module, but the items themselves are not scored. The items form the basis for the tester to judge another set of social, communication, and behavioral criteria. The addition of the scores leads to likely or unlikely indications for an ASD diagnosis. This test is used in conjunction with the history and DSM-5 criteria and is often given by psychologists or developmental pediatricians. The ADOS-2 is used along with the Autism Diagnostic Interview-Revised (ADI-R) [3] for almost all research studies as the best way to confirm a diagnosis of ASD based on our current understanding. It is not required for a clinical diagnosis. The ADOS-2 or other tests may be required by your state or region before children are approved for funding for autism services. This varies widely but must be provided by someone who is trained to administer the test. Learning the ADOS and ADOS-2 really opened my eyes to the meaning of social reciprocity, conversation, and behaviors associated with ASD. If you ever have the chance to watch an ADOS either in person or on video, it is a very educational experience.]

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The short list of which young children need referral to an autism clinic: 1 . If your locale requires it for initiation of autism services. 2. If the child has significant sensory impairments (vision or hearing). 3. If the child has complex medical issues (prolonged hospitalizations, chronic physical issues that prevent typical early experiences). 4. If the child has complex psychosocial issues (early institutionalization, abuse, or neglect). 5. Parents request it. Asking for this referral does not mean that your clinical diagnosis cannot be made as soon as you suspect it and evaluate the child. If you understand the reasons why you think a child has ASD, then you can explain those reasons to the family, so they can begin to learn about helping their child develop social and communication skills as early as possible. All children would benefit from parents knowing about social and communication skills, and that will never cause harm. Sometimes you are the only resource available to a family, and that child needs you to be proactive about their development. If you refer to an autism specialty clinic, there will be a team of people working together to either diagnose or help children with ASD. These teams are best when they operate in what is called an “interdisciplinary” fashion, as an interdisciplinary team. What follows is a description of what you might expect. These teams may be devoted to autism diagnosis and treatment, other specific disabilities such as cerebral palsy, or for any developmental concerns. They are usually associated with a university center, sometimes part of a medical or health sciences school, or sometimes more broadly university affiliated. I have been fortunate for most of my career to work with a highly skilled group of individuals in what is called an interdisciplinary or “ID” team. Our team includes specialists in developmental disorders of childhood, who are psychologists, speech and language pathologists, occupational therapists, social workers, audiologists, physical therapists, and developmental pediatricians. At times, we have child psychiatrists, dieticians and special educators, medical geneticists, or pediatric neurologists. Our team works together to both diagnose developmental disorders and figure out ways to help children and their families. Parents are considered part of the team and the specialists in knowledge of their child. An ID team is unlike a multidisciplinary team one might find in pediatric specialty clinics, with a physician/medical director in charge and others, who contribute to a patient evaluation. An ID team is more democratic, with equal value placed on everyone’s contribution, with an attempt to incorporate everyone’s findings into a coherent, multifaceted understanding of each clinical situation. In the distant past, every discipline saw every child. We adapted to changing times and streamlined the evaluations, attempting to tailor them to the needs of the child and family. A child might see one discipline or many, on 1 day or over several appointments.

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4  Steps to Diagnosis and the First Minute

I would like every child with a complex developmental problem to be able to take advantage of the expertise of all of these clinicians. I know it is not possible, and I know that some of you have access to teams like this, and many of you do not. Some of you have access but find the waiting lists intolerable. While this book will in no way replace a team of experienced specialists, I hope it can give you information I have learned from all of my teammates over decades of time to help the child and family towards their best possible future. Other subspecialty referrals will be discussed in section “Making a Diagnostic Decision” of Chap. 8.

Box 4.2 [Responsibilities of each member of an autism team: Child psychology: Child psychologists are trained in knowledge about a wide range of developmental and mental health conditions affecting children. They are trained to administer standardized tests of cognition and adaptive skills and to make diagnoses and discuss those with the family. Some provide behavioral, individual, or family counseling. Developmental and behavioral pediatricians: These subspecialists currently are fellowship-trained pediatricians. Those trained before sub-boards have a wide variety of training and skills. They all diagnose and treat developmental and behavioral problems of childhood. Speech and language pathology: Speech and language pathologists (SLPs) assess and treat conditions affecting all aspects of communication: producing speech sounds, understanding vocabulary, understanding language, and using language for communication purposes and for social interactions. Some are also trained in augmentative communication strategies. Occupational therapy: Occupational therapists traditionally assess and treat problems with fine motor skills, such as those used in self-help or other daily living skills. Pediatric OTs also assess and treat challenges with sensory processing, which commonly affect children with ASD. OTs can also provide developmental testing to young children. Social work: These are your resource specialists. Social workers know the laws associated with disabilities, what resources are available in your area, what next steps the family needs to take, and what a parent may need on their unexpected journey with their child. Social workers in these settings may also be counselors, or therapists, depending on their training. Audiology: Obviously, audiologists test hearing. Their degree is also in communicative disorders like speech and language therapists, but they have additional training in testing hearing and interpreting the results. Some may also assess central auditory processing. They should have pediatric training, as many children with developmental challenges will not often follow verbal instructions from a voice in another room.]

The First Minute

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The First Minute You can learn so much in the first minute of your visit. Before you enter the room, pause and listen. Screaming after being measured is common; a noninvasive procedure in a child with ASD can be perceived as stressful and lead to prolonged and intense crying. I think this is mostly because the medical assistant or nursing assistant has to hold the child still for some part of the check-in, and unwelcome or unexpected touch or control may not be tolerated. Prolonged screaming is one way a child with ASD communicates distress. The vocal melody of the child with ASD can be unusual, sometimes described as “high-pitched” or “sing-song,” but does not have the same flow and inflection of typically developing children. The cry may sound unusual. If there are words, they may have the wrong emphaSIS. If you haven’t heard it before, listen to the next child you see with an ASD diagnosis, and listen for that atypical vocal melody, called “atypical prosody” by speech and language pathologists. Sometimes I am sure this child on the other side of the door will get an ASD diagnosis just based on listening. The next important few seconds involves what happens when you enter the exam room. Look at the child first. Watch for these things: 1 . When you enter the room, does the child look up? Do they smile? 2. If the child does not see you at first, do they turn to their name? 3. When you smile at the child, do they smile back? 4. When you extend your hand in greeting, does the child take it? 5. If you’ve gotten no response so far, does touching the child get their attention? 6. Does the child run to parents and hide behind them, only peeking out at you a little bit, but often with a small smile? This is more common in anxious or shy children. 7. Does the child seek comfort from parents? 8. Does the child ignore your social greeting and continue their own play? In the next 30 seconds, and depending on the child’s age and level, make a general verbal social greeting to the child and introduce yourself. “How are you?” is an open-ended question. Children with ASD often have limited response to open-ended questions and do much better with multiple choice or yes/no. No answer or no reaction to these questions is important information. The classically autistic child has many obvious behaviors, called “positive signs,” because they are visible to the observer. This is the child who is hand-­ flapping, spinning around, holding a little car or train to the side of their face, and looking out of the corner of his or her eye to see the wheels spin. This child might be nonverbal or might be repeating words just heard. For example, when you say, “Hi, Jason,” the child may say “Hi, Jason,” called immediate echolalia. The more subtly affected child may be playing nicely on the floor with some toys and may be quiet while you get a history from the parent. These children have more negative signs of autism, meaning that there are behaviors you have to elicit and are

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not immediately obvious. Given a child who is playing nicely and who appears healthy and well-grown, as most children with autism are, it is easy to overlook the presence of autism in a short clinic visit. Sometimes a child with ASD will come right up to you, but you should notice if he or she is interested in some part of you, like your name tag, your shoes, or the feel of your clothes. You will learn activities to try that can elicit autistic symptoms under “The Developmental Exam.”

References 1. Lord R, et al. Autism diagnostic observation schedule-2. Los Angeles: Western Psychological Services; 2012. 2. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, et  al. Austism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord. 3rd ed. Kluwer Academic Publishers-Plenum Publishers. 1989;19(2):185–212. 3. Rutter M, Le Couteur A, Lord C. Autism diagnostic interview-revised. Los Angeles: Western Psychological Services; 2003.

Chapter 5

Elicit a Developmental History

Key Points in the Story of Development Autism unfolds as a story. The typical “history of present illness” that focuses on immediate concerns, such as delayed speech or intense tantrums, cannot be evaluated without this whole story, which begins in prenatal life, infancy, or even before conception, if there are genetic factors at work. Development unfolds over time, visible markers of brain development, and may unfold along the autism spectrum or different developmental trajectories. A positive family history of ASD does increase the risk of ASD in your patient. If an older sibling has the diagnosis, there is as high as a 24.7% chance that this child will also develop ASD [1]. Knowledge of a diagnosis of a genetic disorder such as Down syndrome or fragile X syndrome also increases the risk for ASD. Known prenatal exposures associated with ASD include TORCH infections and maternal ingestion of thalidomide (not in the USA). Prenatal exposure to valproic acid has been associated with autistic development. Birth trauma or hypoxic ischemic encephalopathy does not cause autism alone, without other clinical signs of brain injury, such as cerebral palsy. Having a diagnosis of cerebral palsy does increase the child’s risk of having ASD. In fact, it seems that anything that alters brain development can increase the risk of ASD. I typically start the interview by asking a general, open-ended question to the parents, as we usually do in non-emergent settings. I try to let them tell me what is important to them, rather than what I think they want. After an appropriate length of time, I take the opportunity to tell them that development is a story and that I would like to know more about their child from infancy onwards. I guide this interview to elicit the things I need to know, as we all do in any clinical situation. Even if you know the diagnosis when you walk in the room, parents need to feel as if you have heard their story of their child. Every person’s story is their own true story. Jenny McCarthy, the actress who blamed immunizations for her child’s autism, has a right to her own story; this is not the same thing as scientifically true, nor does it give © Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_5

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anyone a right to tell others what to do, but I would have listened to it, regardless. (“You are entitled to your own opinion, but you are not entitled to your own facts.”— attributed to Daniel Patrick Moynihan) Infants who will go on to have a diagnosis of autism may be described as very passive (the best baby in the world) or very irritable (often called colic, but which does not have a diurnal variation and does not end at 3–4 months). A study of a history of infant colic (defined by diagnostic criteria) in children who developed autism did not find an increase in occurrence, but the study recommended that excessive crying should be thoroughly evaluated [2]. I am never surprised when a parent of a child with ASD gives me a history of colic. Sometimes infants seem to be socially normal with good eye contact and social smiling, but may not have rolled over, sat up, or crawled as expected. Autistic infants are often recalled as quiet babies, who did not coo or babble with their parents. Some questions you might ask about infancy include: “What was your baby’s temperament or personality like from time you brought them home from the hospital?” “Did you think of your baby as extremely easy or extremely difficult?” “How did your baby latch and suck?” Early facial hypotonia can show up as difficulty with breast feeding. “Was it hard to introduce solid foods?” Were there early sensory issues?

Toddlers’ first words may be delayed, but more importantly words are not used communicatively. Toddlers with autism may label objects, even letters, but do not use words to request. They may seem very “independent” to their parents, not needing parental attention as much as other children. This is one of the ways researchers have found to distinguish children with autism, children with developmental delays, and typically developing children at 12  months, when reviewing first birthday videos [3]. Questions to ask about toddlerhood: “Is your child interested in other children?” (From the MCHAT, the autism screener) To me, an answer of “no” or “not really” is one of the best correlates of an ASD diagnosis. A parent answering “yes” does not rule out autism. “Does your 1-year-old follow simple commands to ‘come here’ or ‘sit down’ or ‘give me’? “Does your 18-month-old follow a command such as “first do this, then you can have that.”? “Does your 18-month-old point to his own nose when you ask ‘where’s your nose?’” Pointing to mom’s nose is something many children with autism do because that’s what they saw parents doing and counts a little less than pointing to their own noses. They knew the word “nose,” but not the idea of “your.” “Does your 18-month-old know the answer to ‘What does a doggie say?’ by making the right sound?” (In Wisconsin, the appropriate question is “what does a cow say?” Not kidding.) “Tell me about your child’s pretend play.” Asking “Does your child have pretend play?” does not get to the quality of the play. Parents may say “yes” even though the child is reenacting a video, lacks interest in sharing that play with others, or needs to direct what everyone else does. A negative answer, though, can be very helpful. “How does your child let you know what they want?” A child with autism may bring an empty cup to a parent to ask for a drink, but without eye contact, smiling, or socially requesting. Parents may say, “He comes and tosses his cup at me.” The child may pull a

Key Points in the Story of Development

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parent to the area of the house where they want something, but they don’t point or indicate what they want. Parents do a lot of guessing. The child doesn’t use pointing combined with eye contact with parent.

Story [A mother brought her 2.5-year-old with Down syndrome (DS) to me because “She needs a communication system.” This child had moderate conductive hearing loss and hearing aids. Because of the hearing impairment, her therapist was teaching her sign language, and this little girl had learned 75 signs. She even knew the sign for “strawberry,” which I thought was amazing, but then realized all the signs were nouns and she was not using signs to request. As we talked it became apparent that this child, like 10% of children with DS, had autism. I had to tell mom that her daughter had a communication system, but did not know how to use it because of her autism. That was a tough day. The child had a way to communicate, but didn’t understand that she needed to communicate with others. That required autism intervention, not a new communication system.] Parents of children with ASD may have language and social characteristics that make it hard for them to relay information in a linear way. Obtaining a good developmental history can be complicated by a concept called the broader autism phenotype (BAP). The BAP refers to the fact that first-degree relatives of children with autism (parents or siblings) may have some autistic characteristics. This extends to the ability to tell a narrative, to answer questions, to understand the intent of your questions, and to have difficulty with open-ended questions. They may “fail to reference,” meaning that they assume you know what they mean when they say “Jill thinks he’s fine,” not telling you that Jill is the physical therapist. They may be tangential in their answers to questions, so that you have to remember to reask your question a different way. Parents who have some of these characteristics make it more difficult to get a good developmental history. Your history taking needs to be flexible to accommodate a parent’s style [4]. Story [I interviewed the college-educated mother of a 2-year-old being seen for autism diagnosis. I asked her “When did that happen?” She answered, “Baltimore.” I thought perhaps she didn’t hear me, so I repeated the question. She answered “Baltimore” again, slightly irritated at my repetition. I rephrased and asked “How old was your child?” and she answered, “2 years old,” without acknowledging or knowing that is what I was asking before. In contrast, I interviewed a mother, whose child had autism secondary to Down syndrome (DS), without a family history of autism symptoms. She gave me an organized, linear story with all the important aspects (time of diagnosis of DS, DS complications, realization that her child did not fit in with other children with DS) in about 7 minutes. This only rarely happens to me when there are ASD symptoms in the family.]

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I worked with a pediatric neurologist, who noted these differences before the concept of BAP was developed. I did not believe him, thinking that the mothers of children with autism were different because of the stress of raising a child with autism. He was right. Some parents come in and give you DSM criteria: “He doesn’t look at me.” “She doesn’t turn to her name.” “He flaps his arms when excited.” “She lines up her toys.” “He flips his cars over to spin the wheels.”

These parents know something is wrong and to some degree are prepared to hear what you have to say. This may happen more commonly in subspecialty clinics than in primary care. But parents may have read about autism and may have been worried for some time. Reassurance or “wait and see” is never indicated without more information. Some parents may not be willing to think there is anything wrong. They misconstrue what their child is doing as “brilliance” or “thinking out of the box.” Parents may have made important observations “He knows which way the car should turn to get to McDonald’s” but only give you their conclusion “We know he is very smart, so he can’t have autism.” Or “He can count to 100!,” but they don’t understand that while the child has a great memory, they may limited number concepts, such as not understanding a request to “Give me 3 apples.” While all of these things may be true, it’s up to the evaluator to not take parent history at face value and to listen to the words behind the words. Keep two columns in your head: one for what parents tell you the child can do and one for what you see the child do. The child may be brilliant and may score very well on an IQ test. The diagnosis of ASD is completely independent of IQ scores. The great memory or other exceptional abilities do not necessarily help a child think, generalize information, or use that information in everyday life. There are ways that parents describe their children with ASD in very positive terms. These words should be flags to alert you to some developmental differences: “She’s very independent.” “He’s very smart.” “He has an amazing memory.” “He is extremely interested in the way things work.”

I try never to agree or disagree with a parent about the child’s intelligence unless I have a valid IQ score in front of me. Therefore, I try never to use the word “smart” (“I know your child is very smart”) without data. I try not to use the words “smart” or “bright” in my reports, unless they are quotes of parents. Part of this is because parents remember what you say and the words you used. This happens to both subspecialists and primary care providers. Parents have told me, “You said….” and quote me verbatim, sometimes years later. I want the words to be correct.

Tips for Interviewing the Child or Adolescent

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Other ways parents describe their child with ASD have connotations of parental guilt or blaming the child’s personality: “She doesn’t need to talk. I know what she wants and I get it for her.” “He is strong-willed.” “She’s just stubborn” (or oppositional, bull-headed, etc.). “The grandparents tell us we should just discipline him more.” “She’s never been with other kids her age; that’s my fault.”

Parents who are fighting between themselves can tell very, very different stories. Try to have both parents at this interview, as hearing different perspectives is important. Usually, the mom is the historian, and the dad agrees. But if they have relationship issues, they may not see the same child at all, which makes their history hard to interpret. Observations by others, who don’t have a stake in the parents’ marriage, are very important. Birth-to-Three therapists or daycare providers can give important history. Sometimes you have to come at a diagnosis sideways, instead of running through diagnostic criteria. If you feel you are not getting a coherent history from the parents, you can move more quickly into the interactions with the child. You can check criteria yourself, interpreting what you heard and saw. We all have stronger and weaker areas. I don’t trust my heart auscultation skills beyond murmur/no murmur and only if the children are quiet. Although your skills with children with developmental delays will vary, a young child will usually show off a skill, if you give them an opportunity. An indifference to your presence tells you a LOT about a child’s social skills or social interest. If you are thinking that this child may have ASD, and you want to confirm it, given more time or another appointment, you can review DSM-5 diagnostic criteria with the family. Unlike some DSM conditions, it would be very hard to just give criteria to parents and ask them to check the ones that apply. Some of the criteria are not accessibly worded, even for healthcare professionals, so I have detailed how to get at criteria in the next chapter.

Tips for Interviewing the Child or Adolescent Interviewing the person with ASD can be challenging, especially considering the wide range of language abilities, the level of social engagement, and the lack of reciprocity in conversation. Some children use an augmentative device, but they seem to do best, at least for me, with routine questions they have encountered before. It is always best to first find out the person’s passionate interest. If I’m lucky, it will be something I know about, like Star Trek, Harry Potter, or Lord of the Rings. If the interest is Lord of the Rings, you can say “My favorite movie was ‘Fellowship’.” Making a statement instead of a question allows them the chance to respond to your comment, which is much harder than answering a question like, “Which movie did

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you like the best?” If they say their favorite topic is “basketball,” then I am quite literally sunk. But I can still say, “Tell me about basketball,” and if that is the interest, you may launch a monologue that requires little prompting from you. Some children with ASD do not have a special interest, may not have one yet, or parents may not know about it. Once you have some rapport, you can ask about other areas, such as home, school, or friends. You can start with a specific question like “What grade are you in?” or “What’s the name of your school?” but then expand to what they like best or hate most. If you get no reaction, you can try a multiple choice question like “Do you like pizza, salad, or French fries for lunch?” Or you can give them a Likert scale, like the pain scale, for “How much do you like 3rd grade?” See what happens. Be careful if anyone says they are using “facilitated communication” or that the parent needs to hold or touch the child’s arm while they are typing out a response. These answers come from the adult (see Chap. 13). Box 5.1 [Consider questions to ask the child with ASD: 1 . Ask them what they like about school, what they don’t like. 2. Ask about friends. Do you have some friends? Can you tell me their names? What do you do with ___? Does he ever come over to your house? What do you like to play with ___? How do you know ___ is your friend? What does it mean to be a friend? (ADOS, Module 3, [5]) 3. When you ask a question, give the child time to respond before repeating yourself or asking another question. Wait longer than you think you should. Language processing speed can be delayed.]

Critical Milestones Help Assess Current Developmental Levels Milestones seem hard for pediatric residents. They are better if they have children, at least up to the age of their child. In practice, we have our list of questions for each health supervision visit, but we rarely have a clear way of knowing when to call something abnormal. Every developmental milestone has an average range (+ or −1SD) and a normal range (+ or −2SDs). The one we all know best is that an average child takes first steps around 1 year of age. We don’t often know that the normal range goes from 7  months to 17  months. Anything over 17 months is “delayed” because that is the 2SD limit. When taking a developmental history, we all have a list of things that we ask about, e.g., first steps, first words. We may ask about sentence length or clarity of speech. We get very little training in aspects of communication such as receptive language, gestural communication, and social use of language, called language pragmatics by speech and language pathologists.

Critical Milestones Help Assess Current Developmental Levels

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Many children with ASD have better developed expressive language than receptive language; they can say more than they can understand. We tend to judge language adequacy on the number of words in the sentences or the number of words overall. Children with ASD get into trouble because their sentences make adults expect that level of cooperation and understanding. They may have excellent vocabulary skills. Not only do children with ASD not attend to the social aspects of language, like responding to their name, they may not understand what is being asked of them, and therefore may be unable to comply. Let’s review some important receptive language milestones: • • • • • •

Responds to name: 4–6 months Follows simple commands, like “come here” or “give me”: 12 months Follows more single requests: 15 months Points correctly to “where’s your nose?” at 18 months Makes an appropriate sound when asked: “What does a kitty say?” “First do this, then that” or “If you do this, you can have that,” starts around 18 months

You can see the critical receptive language questions you can ask at the 18-month visit. These are also the questions I ask routinely so that I know where the child is functioning before I try to interact with them. Understanding if/then allows parents to move into the positive reinforcement stage of eliciting cooperation from their child. (See Chap. 15.) Until the child connects his or her own actions with consequences, neither rewards nor punishments can be effective. Once a child understands this connection, parents can shape behaviors forever. For example, “If you get all A’s, you can take driver’s ed.” It is good for a long time. For the 2–3-year-old: • Follows two-step commands at 2 years • Follows three-step commands at 3 years Although these milestones are easy to remember, they are not as helpful because context is everything. Did the parent ask them to come to the table at dinner time when there is the smell of food cooking? Did the parent ask using gestures and words or just words? Does the child lose social interest after the first question? Parents likely won’t know the answers to these clarifying questions, but these are factors that affect parents’ answers. Parents often tell me “he understands everything we say,” which isn’t true of any child, let alone children being seen in a developmental clinic. I think parents mean that “he knows what we ask him to do,” which is a very different statement. Parents often know what they can and cannot ask their child to do, and never ask them to do something too hard for them. It’s intuitive parenting, but may not get you to the answers you seek. It is another situation when you recognize that the history may not match what the child can do. Gestural communication  Nonverbal communication includes things like eye contact, joint attention, and use and response to gestures. An early gesture (8–9 months)

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is reaching both hands up to request, “Pick me up.” Infants start waving “bye-bye” around 10 months. Around a year, asking a baby “How big are you?” should elicit the response of both hands in the air, if the parent has taught that game. If you live where American football is popular, then saying “Touchdown!” might elicit the same response. Also around 12 months, babies start using their index finger to point to something they want, called “protoimperative pointing.” If they also look at parents, and then look at the object of their desires, this is called “initiating joint attention.” In another couple of months, young children will point to indicate interest, called “protodeclarative pointing.” If a parent points to an object of interest and looks at the child and then back at the object, and the child looks, then this is called “response to joint attention.” Gestural communication is often impaired in ASD. We tend not to ask about social milestones or the social use of language. Greenspan [6] has a great review of the emotional milestones in infants and children. There is no reason to think that these may have changed substantially in the last 20 plus years. You can see the importance of use of language to communicate these. Here are some highlights: • By 4 months, looks at a person with a joyful smile and vocalizes when spoken to • By 8  months, smiles or laughs when something silly is done and responds to simple social games like peekaboo • By 12 months, uses gestures or vocalization to communicate need/want • By 18  months, explores across the room and then comes back to parent for a touch or cuddle and asks easily for help from adults • By 2 years, engages in (flexible) pretend play and understands simple questions like “Is Mommy home?” [5] All the other milestones that you routinely ask about are great, because some children also have gross or fine motor delays, global or cognitive delays, speech motor coordination problems, or other delays. When we ask developmental milestones, we do have to know where the −2SD point is, that is, when is a milestone actually delayed? Because this is not easy to remember, many practices use a validated developmental screener that is part of the electronic medical record. Then, all we have to do is pay attention to the results and act on those findings. When interviewing parents of children who have global developmental delays (GDD), which often, but not always, ends in a diagnosis of intellectual or cognitive disability, you may encounter parents’ reasons why their child is behind (see Chap. 2). You are looking at a story that unfolds at a slower than normal rate. A 12-month-­ old, who is more like a 6-month-old, is less “6 months behind” than “50% behind.” The child with GDD without ASD will be as social as their developmental age. Take your usual history, of course. The second-year pediatrics residents I teach are almost all great at taking a history and getting all the important parts they have learned since med school. I have added developmental and autism-specific questions that can help you clarify your diagnosis. After your exam (Chap. 7), you can put this history together with your findings and come up with a reasonable age level for important developmental areas.

References

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The other and easier possibility for getting good developmental levels is a tool called the “Child Development Inventory,” by Harry Ireton, PhD [7]. It consists of 300 yes/no questions that parents will fill out at home on a score sheet that has those little bubbles to fill in. Scoring is done by hand by placing a translucent overlay over the parent’s answers and counting up the number of “yesses” in each section. Everything but the overlay, which is not necessary to score the test, is available online. You will get an age level for each important developmental area, as well as a chart to tell you the −1.5 and −2.0 SD level. This is especially useful in under-­ resourced areas and something that is easy to learn. It can also be useful to show parents where their child is functioning compared to other children their age. Interested office staff can learn to do this.

References 1. Wood CL, Warnell F, Johnson M, Hames A, Pearce MS, McConachie H, et al. Evidence for ASD recurrence rates and reproductive stoppage from large UK ASD research family databases. Autism Res. 2015;8(1):73–81. 2. Bağ Ö, Alşen Güney S, Cevher Binici N, Tuncel T, Şahin A, Berksoy E, et  al. Infant colic or early symptom of autism spectrum disorder? Pediatr Int. 5 ed. John Wiley & Sons, Ltd (10.1111). 2018;60(6):517–22. 3. Osterling J, Dawson G.  Early recognition of children with autism: a study of first birthday home videotapes. J Autism Dev Disord. 1994;24(3):247–57. 4. Piven J, Palmer P, Jacobi D, Childress D, Arndt S. Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. Am J Psychiatry. American Psychiatric Publishing. 1997;154(2):185–90. 5. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, et al. Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord. 1989;19(2):185–212. 6. Greenspan SI.  Clinical assessment of emotional milestones in infancy and early childhood. Pediatr Clin North Am. Elsevier. 1991;38(6):1371–85. 7. Ireton H, Glascoe FP.  Assessing children’s development using parents reports. The Child Development Inventory. Clin Pediatr (Phila). 1995;34(5):248–55.

Chapter 6

Overview of the Diagnostic System: Using Diagnostic Criteria

It is important to think of developmental diagnoses in two ways: 1. What term best describes the child’s developmental profile (e.g., ASD, intellectual disability, ADHD, cerebral palsy, learning disabilities)? 2. What has caused this developmental disorder (genetic conditions, prenatal exposures, etc.)? If we keep two differential diagnostic lists in our heads, we will think about this area more clearly. The choice is never “Does this child have autism OR fragile X?” but “Does this child have autism because of fragile X?” In case that seems obvious to you, I only mention it because I have seen pediatric review questions that list both as options, but ask for one answer, and read articles, where this concept is not employed. Over the years of my practice, autism has morphed from something that was diagnosed only in the most severe and classic cases to something that includes a much broader range of symptoms that merges into other diagnoses such as ADHD, anxiety, learning disabilities, and others. I remember clearly giving diagnoses of (then) mental retardation, if the child scored below 70 on a cognitive test, even though in retrospect, that child probably also had autism. We just didn’t have the mental idea of autism as a broader and more inclusive spectrum.

Box 6.1 [History of Diagnosis of Autism The shift in thinking about autism over time represents radical departures and conceptual developments that have led us to the way we think about autism/ASD today. 1600s: I suspect that if a beautiful, little 2-year-old seemed OK to her parents, and then lost language or social skills, that this child could have been

© Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_6

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described as a “changeling,” someone left in place of the real child, who was taken by the fairies. 1940s: Leo Kanner and Hans Asperger receive credit for describing the profile of children with autism, within months of each other. There is a history of Dutch experts, notably Ida Frye, describing autism in the late 1930s [1]. 1950s–1960s: Because the framework of understanding issues such as autism was psychoanalytic, the “refrigerator mother” was proposed as the cause, with a highly intellectual but unemotional mother causing social withdrawal in her child. This caused much pain among the mothers so labeled and was proven incorrect, as our understanding of autism evolved. 1970s: Autism was beginning to be thought of as a neurodevelopmental disorder. Before this was widely accepted, if a child we would now see as autistic had neurologic problems, this was called an “Organic Brain Syndrome” in DSM-III. 1980s: Isabelle Rapin and Roberto Tuchman were among the first to report that about 30% of children with autism also had epilepsy. Tuchman dates the earliest idea that autism was neurodevelopmental to the 1960s. The link between brain development and autism became more widely accepted. 1990s: Asperger disorder was introduced as a diagnostic code under the Pervasive Developmental Disorders’ umbrella, which also included autistic disorder, PDD-NOS, Rett Syndrome, and Childhood Disintegrative Disorder [4]. 2013: DSM-5 was published, which dissolved the subcategories and replaced all autism diagnoses with “autism spectrum disorder.” The diagnostic lumpers prevailed, as data suggested that a more specific diagnosis early in life did not predict the future diagnosis. Children could be first identified as having autistic disorder but later better fit Asperger syndrome and vice versa. 2018: We may be on the verge of having a newborn screening test for autism, using neurophysiologic tools such as the brainstem auditory evoked response that is already used for universal newborn screening [2]. There may be biochemical or genetic markers that will prove helpful.]

It is important to remember that individual clinicians draw their diagnostic lines at different places. I draw my line much closer to the overlap between autistic and non-autistic individuals (Fig. 2.1). Working with my colleagues in psychology and speech and language pathology, I believe that we are operating in the range that is considered standard of practice across the country, based on our shared literature. There isn’t a right and wrong in this field, just more helpful and less helpful ways of describing development. In the DSM-5, there are a total of seven criteria divided into two major sections, one that focuses on social and communicative reciprocity, with three criteria, all of which must be met for a diagnosis of ASD, and another section with four criteria that relate to behaviors, and two out of these four need to be met for the diagnosis.

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Table 6.1  DSM-5 [3] checklist for ASD criteria Criteria A. Persistent deficits in social communication 1. Deficits in social reciprocity  Social approach?  Poor conversation?  Sharing of interests?  Social initiation?  Social response? 2. Deficits in nonverbal communication  Eye contact?  Use of gestures?  Range of facial expressions? 3. Deficits in understanding relationships  Adjusts behavior to situation?  Shares imaginative play?  Makes friends?   Interested in peers?  Need all 3 social criteria B. Restricted repetitive patterns of behaviors 1. Stereotyped or repetitive movements, use of  Objects or speech?  Hand flapping?  Lining up toys?  Flipping objects?  Echolalic speech? 2. Insistence on sameness, ritualized patterns?  Difficulty with transitions?  Extreme distress with small changes? 4. Highly fixated interests  Passions?  Obsessions? 5. Hyper- or hyporeactivity to sensory input  Increased reaction?  Decreased reaction? Need two of four behavioral criteria

✔

Reported or seen in office (notes)

Adapted from Reference [3] Please see text for details. Use this only as a way of review, not instead of detailed history or exam discussed

A checklist that provides the big picture can be seen in Table 6.1 [3]. The emphasis is on the interactive (reciprocal) relationships that the child develops with other people. You will next see each section and each criterion quoted in italics, accompanied by examples and questions that you can ask. The bold text is mine.

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6  Overview of the Diagnostic System: Using Diagnostic Criteria A. “Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history:   1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.” [3]

Impaired social reciprocity is at the heart of the ASD diagnosis. A reciprocal social relationship is one in which social partners show interest in each other. An adult asking a child 20 questions about the videogame Minecraft© or Hot Wheels© cars and eliciting an answer is not conversation. Conversation is a two-way street and traffic must flow both ways. An abnormal social approach could include a child who approaches your shoes, badge, clothes, and hair, without regard to the fact that a person, you, is connected to them. Sometimes I would block a child’s path with my leg held up so that they would have to do something to get through. Children with ASD often push it away, or climb under it, but without ever looking up to see to whom the leg is connected. Or the child may not offer any social approach, showing little interest in you, so long as you are not perceived as a threat. Sometimes, a child with ASD will back into me, may even want to sit on my lap, but without looking at my face. Does your child turn to his/her name when you call? Does it take several times, require that you increase your volume, or make a silly noise at the end?

In the office, ask the parent to wait for a time when the child is not looking at them, and call his/her name in a normal voice. If the parent has to whistle or say “come here” or use other words than the child’s name to get their attention, that is an indicator of not turning to name. Does your child respond to your asking “What did you do in school today?” by giving you information about the day?

Most children with ASD do not respond easily to this kind of open-ended question. Parents may get information using a multiple-choice-type approach, such as “Did you have gym or art today?” or “Did you play with Susie or Garrett today?” Reduced sharing of interests  Typically developing children want to share their discoveries with their parents. “Look, Mommy!” They point at a squirrel or airplane and then look back to see that the parent is looking. That is the child sharing their discoveries with parents. Sharing of interests should go both ways. There is also reduced responding to parents’ interests, like when a parent says, “Look, Lucas!” and the child does not look up to see what the parent sees. The only typical exception to this happens when a parent knows what the child loves, and if they say “Look, Lucas, there’s a TRAIN!” the child with ASD, who loves trains, will often look. Failure to initiate or respond to social interactions  Children with ASD can be taught to say “hi, my name is…” but often don’t respond to others trying to get their attention. They may not know what else to say. More severely affected children may not show an interest in other people at all. That is when parents say “he’s in his own world.”

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Is your child interested in what is happening around them? Is your child interested in other children? Does your child like it when you teach new things? Does your child seem to be in their own world? 2. “Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.” [3] “It was a great relief to finally understand why I don’t look people in the eye. If I had known this when I was younger, I might have been spared a lot of hurt.” – John Elder Robison, on learning of his diagnosis of Asperger syndrome (2007) [6]

We are not taught to ask about “nonverbal communicative behaviors used for social interaction.” We know that eye contact is important in this area, but parents often think that their child looks at them. Some children with ASD can initiate eye contact when they want something, but typically do not respond to others who are trying to get their eye contact (again, a lack of reciprocity). A typically developing 4-month-­ old should light up with eye contact and delighted smiling when they see their parents appear. Babies with ASD may not look, or may turn slowly to look, and the parent thinks the baby is “busy” or “interested in something else,” so they leave. Babies with ASD may miss many chances for social opportunities because the parent walks away and thinks “I’ll catch him later.” It is not known if missing these social opportunities contributes to the developmental pathway towards ASD or not. Gestural communication starts very early. Six- to eight-month-olds reach their arms up to get picked up. Ten-month-olds can wave bye-bye. Twelve-month-olds can isolate their index fingers and point to show first desires (pointing for “I want that”) and then for interests (pointing for “Look, that’s interesting!”). Absence of these gestures is an early sign of ASD, especially if other developmental areas are closer to age level. Some babies with ASD are described as “serious” because they do not change their facial expressions. One mother called her baby “little professor” because he would hold something in his hands and look at it closely, but did not show it to his mom nor show delight. Albert Einstein, who may have had ASD, is said to have studied objects in this way as a child. This section involves the concept of “joint attention,” the ability of the child to initiate and respond to gestures, facial expressions, and eye contact, with another person. Joint attention emerges by the end of the first year. Is your baby delighted to see you? Does your child talk with their hands (e.g., wave, point, shrug, show size)? 3. “Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers” [3].

Lack of interest in other children can be a tip off, but sometimes, a child with ASD wants “friends” but has no way of knowing how to approach another child. One of my patients knew that he played with his brother and dad by wrestling, so he would go up and tackle another child, with good intentions but no idea how that would feel to that child. He was surprised by the negative reactions he got.

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We used to look for “absence of pretend play” but have found that many children with ASD can believe in Santa, or imagine that their toys are people or that they are superheroes, but they often do not share that play with others. The child with ASD tends to want to control play, so other people have to do what they want or they don’t want to play anymore. One of my patients organized people in his play, making his mom stand in one place, his dad in another, and they had to do what he said, or he lost interest in playing. That ability to share play with others is important in typical development. Older children with ASD may be seen as loners. In autism, this is not something that started in middle school but dates back to early childhood. Some kids with ASD seem content with themselves, and some really want friends like other kids but lack skill to make and keep them. Box 6.2 [The Importance of Pretend Play: Being able to pretend means that you are able to imagine yourself in different situations. You can think, “What if I were a superhero?” and “What if I couldn’t find my mom in a store?” It allows you to think about yourself in situations that you haven’t yet experienced, which contributes to your ability to avoid dangerous situations.]

Preschool and early elementary school teachers may contribute to the child’s lack of understanding of “friends” because they often refer to all the children in the class as “your friends.” I have asked children with ASD if they had friends, and if they say yes, I ask “Tell me who they are.” More than one child has simply listed off all of the boys or girls in their classroom, or sometimes ALL the children, having followed the teacher’s classification system. Another child I know did not believe their parents’ unlikely story of a man in a red suit coming down a nonexistent chimney and eating cookies and leaving presents. It sounded preposterous to him when he was 2 and 3, but by 4 was beginning to understand pretend, and could imagine (or pretend to imagine) that this magical thing happened. Tell me about your child’s play. When your child pretends, can they allow others to change the story?

Difficulty adjusting behavior to suit various social contexts  Non-autistic children learn that they behave one way on the playground and a different way at church, in the store, or at grandma’s house. Autistic children are typically themselves wherever they are, although often more stressed in unfamiliar locations. The same things that would set them off at home would set them off in these other locations. They don’t understand another person’s point of view or situation’s need. A family who understands their child may create a comfortable place at home, where the child prefers to be, and not expose the child to distressing situations.

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Does your child change their behavior based on the situation?

Point of view is an integral part of social understanding. The child with ASD sees the world through his or her own point of view and typically has difficulty understanding that other people may have different points of view. This is another symptom that is not “all” or “none” but can be present to different degrees. Children with ASD may assume that everyone else knows exactly what they know and are thinking, which causes social misunderstandings. They may not understand the experiences of another person, which is part of the development of empathy. Does your child understand someone else’s point of view? Does your child have good friends?

All three social communication criteria in Section A must be met in order to use an ASD diagnosis. Box 6.3 [Lack of Salience Salience is the “most notable or important,” or the “condition of being prominent.” In our context, it is the ability to look at a whole picture or social moment and select the most important thing present. Children with ASD often lack this ability. This challenge contributes to the child’s impaired understanding of social situations. I saw this most easily when giving the ADOS-2, which used the picture book Tuesday by David Wiesner. The book is all pictures, no words, and involves flying frogs, and the children are instructed to “tell the story.” When the frogs first show up over a pond, it is a surprise for the child who sees “Flying frogs!” Many of my younger patients look at that page and notice there is a small fish in the pond looking up at the frogs and there is a tiny star in the sky; they may count the frogs, and they may call the big frog “daddy frog” or the small frog (which is really further away) “baby frog.” They cannot look at this picture and immediately see that the most interesting thing is the frogs and that they are flying. If you extrapolate this out to the child looking at a social scenario, you can understand why a child with ASD cannot “read” the situation correctly. Social situations are never static like a picture, which multiplies the complexity.]

B. “Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text):   1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).” [3]

These are positive signs of autism, things you can see and parents can report. Negative signs refer to the absence of a behavior, such as absence of eye contact.

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6  Overview of the Diagnostic System: Using Diagnostic Criteria Does your child flap their hands? Walk on tiptoes? Does your child usually do the same things with toys? Does your child like to line up toys or household objects? Does your child manipulate an object in a repetitive way and observe it from unusual angles? Does your child repeat words that have just been said in the environment (immediate echolalia) or repeat lines from movies or stories without intent to communicate (delayed echolalia)? Does the child have words or phrases that they say in exactly the same way, with the same intonation, for specific events? (Saying “Are you OK?” when they fall down, because that is what parents say to them. Saying “Oh, no!” with exactly the same intonation whenever something falls?)

This is the time in the interview when parents report pronoun reversals to you. The child with ASD often does not understand the difference between I and you and will say whatever parents say. Parent: Do you want me to carry you? Child (asking to be carried): Carry you!

This is a challenge because “you” and “I” change every time someone speaks. That may be why the child with ASD often uses their own name instead of a pronoun. Their name never changes so “David want truck” always means David. Does your child use “you” and “me” correctly? Does your child ever seem like they are repeating a recording of what they have heard? 2. “Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day).” [3] Do you need to tell your child ahead of time what is going to happen next? Does your child have difficulty stopping what he is doing to do something else, even if it was planned?

I think that this may relate back to that lack of understanding of another person’s point of view. If they are in school, they do not understand that the whole class needs them to get up and move to the gym or library or that the teacher needs their attention. The child with ASD knows what they want to do and when and how they want to do it and does not intuitively understand the needs of others. That is at least why some transitions are hard. Some children with ASD have a MUCH better sense of direction than I ever will. Of course, that is a low bar, given my sense of direction. But I have had 3-year-olds who do not call their parents “mommy” or “daddy” and who can tell which direction the family car is headed and whether that is somewhere they want to go or not. One 5-year-old knew the highway directions from their small Wisconsin town to Madison, even though other areas were very impaired. Do you think of your child as rigid or flexible? Is your child a picky eater? How picky? Does your child have trouble changing from summer to winter clothes? Does your child hate to get new shoes? Does your child notice small changes that no one else in the family noted?

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Can you change what you told the child you were going to do without causing distress? Does your child have a lot of rules for how things need to be?

Rules can be about anything. One child needed all the baby food jars to face in the same direction. Another child needed the same brand of macaroni and cheese, certain kinds of clothes, or even length of sleeves. There is a lovely young adult novel called Rules, by Cynthia Lord, from the point of view of a sister, who has a brother with autism. Although this is mostly about rules she has for her brother, this seemed like a good place to mention it [5]. 3. “Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).” [3]

Passions or obsessions  DSM-5 refers to these as “fixated interests,” but others call them obsessions and tell parents to get rid of all things in the house related to this interest. I think it is much more useful to call these interests passions and try to use passions as a bridge to something else the child needs to learn. No one can tell where to draw the line between passion and obsession. I think that people who go to Green Bay Packer football games in the Wisconsin winter, not wearing a shirt but painting half of their body green and the other half gold, have crossed that line. But many Packer fans would disagree. Let’s look at this very common characteristic in ASD as a passion. One of the most celebrated examples of this is based on the book Life, Animated by journalist Ron Suskind, which is the story of a father who taught his autistic son to use language by participating in his son’s extensive knowledge of the entire Disney movie, Aladdin [7]. His son could quote all the lines from the movie. The dad started to take on different roles from the movie and played with his son. It is a beautifully written look into one family’s experience. Does your child have a passionate interest? What do they love to do? Do you think your child is obsessed with anything?

We will talk more about how to use these passions under Chap. 15 and about the relationship of “obsessions” to obsessive-compulsive disorder in Chap. 19. 4. “Hyper- or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement”. [3]

The child with ASD reacts in different and unexpected ways to the environment, as perceived through their senses. There is very little controversy about these observations with enough agreement such that sensory differences are now a major diagnostic criterion for ASD.  The controversy in this area is whether or not there is sufficient evidence to say that sensory differences can be treated effectively by occupational therapists. I believe that pediatric OTs have much to offer the child and family with ASD and can significantly improve the daily lives of autistic children,

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but I acknowledge that the literature to prove effectiveness of treatment for sensory symptoms is weaker than I’d like, which is true of many things we do in medicine. One way to think about treatment for sensory issues is with the well-known biologic phenomenon of desensitizing. Helping the child experience some of these sensory inputs in a more predictable way can help when those sensations appear unexpectedly. OTs do so much more than treat sensory issues. They teach self-help skills and fine motor skills, giving the child the most independence possible and the ability to participate fully at school and at home. OT for children with ASD should be considered “standard of care.” Sensory issues can have a huge negative affect on both the child and the family. Because the child’s reactions can be intense, there are places the family cannot go and things they cannot do. The social circle of the family may shrink. Does your child react in a typical way to pain? Does a sound or sensation ever cause significant distress?

Several senses are commonly affected in the child with ASD. Sound  Children with ASD often respond strongly to sounds, especially unexpected ones. Household noises, like vacuum cleaners, coffee grinders, or hair dryers, can evoke a major meltdown. Lack of control over the noise, such as a dog barking or balloon popping, can change a pleasant family outing into a challenging situation. Children with ASD can make loud noises themselves without triggering this response, which is why I believe that lack of control over the noise is important to the reaction. Sound sensitivity can also be seen in children with anxiety, again, often with the sudden, unpredictable feature. Hyperacusis has also been found in children with chronic middle ear disease [8]. Smell  Some smells are unbearable to children with ASD. They can be common unpleasant smells, but there may be specific, everyday odors that trigger a reaction from the child. Families with a child with smell sensitivity avoid situations where this is likely. One family avoided taking their child to a circus, fearing a reaction to animal smells. Touch  Children with ASD may both seek textures they like and intensely avoid those they do not. They may be particular about the clothes they wear, some ­preferring to be naked, or refusing to wear jeans, preferring sweat pants, short sleeves, long sleeves, or other clothing rule. Children with ASD in the office may run their nails over upholstery for either the feel or sound it creates. Some will initiate touch with others, but not want to be touched without permission. This creates a challenging situation when you need to do a physical exam, which will be discussed under Chap. 7. One nonverbal teenager I knew greeted people with an index finger to index finger touch, like E.T. One girl I cared for identified her friends by how they felt. She told me “I like David,” and when I asked her why, she said, “He is SO soft!” Deep pressure is a type of touch sought by many children with ASD. Temple Grandin, the most famous person with autism, writes about the squeeze machine she

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built to give herself that deep pressure (see Box 10.3). Some children want their heads under couch cushions with the parent putting some pressure on the cushion. Children with ASD may wrap themselves up in blankets, stuff themselves in sleeping bags, and find a tight space between two pieces of furniture to get this feeling. Some like to sit on their heads, like Robin Williams as the TV alien Mork from Ork. Sight  Children with ASD may use their vision in atypical ways. From early on, they may hold objects off to the side of their faces and use “peripheral gaze” to examine them. They may lie on the floor to watch the wheels of their trains roll by. They may love ceiling fans, flushing toilet water, or anything else that goes around and around. Some are oversensitive to light, a finding that led to an observation that babies with autism may have more constricted pupils than others [9]. Taste  Children with ASD are notoriously picky eaters. The intensity of their reactions and needs goes beyond that of the typical child, who is picky about food. Most parents give their children what they want, not because they are lax about discipline but because it seems incredibly important to the child to have the same brand of frozen pizza, to only eat chicken nuggets or French fries, or any specific food you can name (see picky eaters under section Early Issues in Chap. 17). Pain  Children with ASD are said to have a high pain threshold or be under-reactive to painful stimuli. Children have had broken bones, burned themselves, and simply not reacted the same way anyone else would. This is the sense to which children with ASD are more often under-reactive. One consequence of this is that children with a high pain threshold do not realize that others do not feel the same way they do. They may hit others with force, something that would not faze them. They may not learn from experience the way others do. If burning your hand was only a minor inconvenience, you might not learn not to do that again. And again. And again. There is a neurologic condition called “hyposensitivity to pain” that is associated with decreased sweating. Although rare, it does not hurt to be sure that this child sweats because those who cannot are vulnerable to elevated core body temperature. Temperature  I learned that pain and temperature travel on the same pathways through the nervous system, but the child with ASD may react quite differently to these two senses. Some children will only eat room temperature food or drink cold formula or hot. Some may not notice cold and walk outside barefoot in the snow. Position sense  Children with ASD may be unaware of their bodies in space. Some have motor planning problems and are not aware of how to get themselves under a table or around obstacles. If you combine this with poor social awareness, the child with ASD may walk over others, run into walls, fall frequently, or seem awkward in their movements. Some children may react to their senses in a typical or mostly typical way. This is not a required criterion, only one of four. Only two criteria are needed for this section. DSM-5 asks for a level of severity for both sections, which can be done, but should not stand in the way of your initial, office-based diagnosis. This is a devel-

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opmental disorder, so symptoms must be traceable to early childhood. The symptoms must interfere with a child’s life in some significant way. Just like someone who is a “little anxious” might not need diagnosis and treatment, someone with “a little autism” may not either. I once told a dad of a 9-year-old, who was quirky but doing well at both home and school, that I could not make a diagnosis unless it created a difficulty in some way. Might that child have gotten a diagnosis later? Of course. However, at the time, there were no identifiable problems, therefore no diagnosis. It is very uncommon for a child to make their way to a developmental pediatrician without some kind of challenge, but this might be seen in a primary care office. Asking to speak with a school teacher might also give you a different perspective on whether there are problems or not. DSM-5 also requests so-called specifiers, that is, whether the ASD is with or without intellectual impairment, with or without language impairment, with or without a known causal condition, and with catatonia. This would usually require further evaluation by autism specialists. Again, like severity, this is not something that would be done in an office visit, nor is it needed for a clinical diagnosis. It could be needed, depending on your locale, state, or system, before certain programs are approved. Then further testing may be needed to open the therapeutic doors for the child. Children can be referred to autism diagnostic centers or knowledgeable child psychologists or psychiatrists. Some HMOs hire a child psychologist to do their autism testing, so this does not need a “referral out” and is usually a much faster route than the centers. See more about catatonia under section “Differential Diagnostic Conditions” in Chap. 19. DSM-5 replaced DSM-IV (yes, there was a switch between Roman and Arabic numerals) and the revised versions of IV.  The DSM-IV system used “pervasive developmental disorders” as the umbrella category for ASD and included five subtypes, discussed below [4]. It is important to know that DSM-5 states that anyone with the following diagnoses can be relabeled with “autism spectrum disorder” without further testing. DSM-IV had 3 sections and 12 criteria, which have now been condensed to 2 sections and 7 criteria in DSM-5. Autistic Disorder  This diagnosis covered children who appeared more classically autistic and met at least six of the DSM-IV criteria, at least two social, and at least one communication criterion and one behavioral criterion. Asperger Disorder  This profile was for children with no significant cognitive or language delays. There has been so much good material generated about “Asperger’s” that I would still direct parents of higher functioning children with ASD to this literature. It also helps parents find information that is more appropriate to their child, who is verbal and has at least an average ability to learn. Many of us are unhappy about the loss of Asperger syndrome to define a particular type of child with ASD: with average or above average cognition, very knowledgeable about their passion, and socially awkward or failing. This helped the child with this profile establish an identity that is very different from a nonverbal child with co-occurring ASD and intellectual disability. Research discovered that as chil-

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dren grew up, their diagnosis could slide along these subcategories, and the subcategories did not predict outcome, nor who would respond to intensive intervention. In other words, the categories were not helpful to researchers. Sometimes, I used “Asperger syndrome” as a diagnosis for a family that was particularly resistant to the idea of autism. It was a way of pointing them in the right direction, but without using the word. Maybe others did this, too, creating the situation where the label could change over time. Pervasive Developmental Disorder  This was the umbrella category in DSM-IV that has been totally replaced with “autism spectrum disorder.” “PDD” really never caught on. “ASD” is a much more useful term. Pervasive Developmental Disorder  – Not Otherwise Specified  This refers to children who had autistic features, but did not meet criteria for autistic disorder. These children may have met fewer than the required six. We have learned that children who had a diagnosis of PDD-NOS may shift into Asperger syndrome or autistic disorder as their development unfolds. These individuals can be reassigned a diagnosis of autism spectrum disorder, without further testing. Two diagnoses were eliminated from consideration totally: childhood disintegrative disorder and Rett syndrome. I will describe each briefly. CDD: Childhood Disintegrative Disorder,  also called “Heller’s dementia” (1908), represented children who had a more profound regression of skills than most other children with autism. This also could happen later than usual, any time between 2 and 10 years of age. Children develop to a certain point and then slowly or quickly lose skills in two or more developmental areas. Children with CDD were usually profoundly disabled and did not recover from this loss. The two personal accounts I know of for this group are When Autism Strikes: Families Cope with Childhood Disintegrative Disorder, by Robert Catalano [10], and Craig Schulze’s When Snow Turns to Rain [11]. Rett Syndrome (RTT)  (Discussed under dysmorphology and genetic conditions) This is a genetic condition that classically affects girls and is caused by 8–10 common mutations in the MECP2 gene. This is pronounced either “M-E-C-P-2” or “MEK-P-2.” These are mostly due to spontaneous mutations in the sperm or egg, with minimal recurrence risk. There are rare exceptions. There is an initial period of developmental progress, followed by plateau and then regression of skills. This regressive phase led to many girls with RTT receiving diagnoses of autism initially. The loss of purposeful hand use and development of stereotypic hand wringing movements has been the clinical hallmark of this disorder. I was pleased with the loss of PDD and PDD-NOS, as these terms never caught on and were often mistaken for Global Developmental Delay (sometimes called pervasive developmental delay, which does not exist). ASD is much clearer. Parents understand that the spectrum is very, very broad, but most want to get help for their children, to maximize their potential.

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High-Functioning Autism and Low-Functioning Autism  I mention these terms because people use them, even though they are not established diagnostic entities. High-functioning autism (HFA) can be determined by the authors of a study. I have seen HFA defined by IQs over 60, over 80, and over 100. In practice, it refers to children who do not have a hard time with learning and are verbally adept. By contrast, low-functioning autism would refer to children who are more severely impaired. This term is not often used but would refer to children who are nonverbal and have co-occurring intellectual disabilities. Take-Away Message Please don’t wait until the diagnosis is confirmed by a subspecialist before acknowledging a diagnosis that you have suspected for months or even years. The sooner parents know about this diagnosis, the sooner they can learn that their child is not being “stubborn” or “strong-willed” but has a medical reason for their behaviors. Changing that perspective for parents is extremely valuable and leads to positive parenting strategies and away from punitive ones. Parents can stop blaming themselves because ASD means there are far greater challenges for them than for the parents of neurotypical children. They are working harder for a reason.

References 1. Van Drenth A.  Rethinking the origins of autism: Ida Frye and the unraveling of children’s inner world in the Netherlands in the late 1930s. J Hist Behav Sci. John Wiley & Sons, Ltd. 2018;54(1):25–42. 2. Miron O, Beam AL, Kohane IS.  Auditory brainstem response in infants and children with autism spectrum disorder: a meta-analysis of wave V. Autism Res. 5 ed. John Wiley & Sons, Ltd. 2018;11(2):355–63. 3. American Psychiatric Association. Diagnostic and statistical manual of psychiatric disorders-­ DSM-­5. Arlington: American Psychiatric Publishers; 2013. 4. American Psychiatric Association. Diagnostic and statistical manual of psychiatric disorders-­ DSM-­IV. Washington, DC: American Psychiatric Publishers; 1994. 5. Cynthia L. Rules. New York: Scholastic Press; 2006. 6. Robison JE. Look me in the eye. New York: Crown Publishers; 2007. 7. Suskind R. Life animated: a story of sidekicks, heroes, and autism. Los Angeles: Kingswell; 2014, 372 p. 8. Myne S, Kennedy V. Hyperacusis in children: a clinical profile. Int J Pediatr Otorhinolaryngol. 2018;107:80–5. 9. Nyström P, Gliga T, Jobs EN, Gredebäck G, Charman T, Johnson MH, et al. Enhanced pupillary light reflex in infancy is associated with autism diagnosis in toddlerhood. Nat Commun. Nature Publishing Group. 2018;9(1):1678. 10. Catalano CA.  When autism strikes: families cope with childhood disintegrative disorder. New York: Plenum Press; 1998, 248 p. 11. Schulze CB.  When snow turns to rain: one family’s struggle to solve the riddle of autism. Rockville: Woodbine House; 1993.

Chapter 7

The Developmental Physical Exam

The developmental exam includes three areas: the neurologic exam (section “The Neurologic Exam: From Watching to Touching”), the general physical (section “The General Physical Exam for ASD”) exam, and the dysmorphology exam (section “The Dysmorphology Exam: Looking for Clues for a Specific Cause of the Child’s ASD”). I learned to observe children’s development and behavior from two groups: pediatric neurologists and child psychiatrists. I have learned how to look for specific reasons for ASD from pediatric geneticists, who taught me how to recognize and describe dysmorphic features. The exam also gives you the opportunity to observe developmental and behavioral differences and to have the parents see what you are seeing. For example, if you see hand flapping, you can ask if they see that at home. If you call the child’s name and they don’t turn to you, you can state “He doesn’t seem to turn to his name.” Many parents see their children in this situation for the first time, where they can observe the lack of interest in strangers or lack of response to requests. I also get statements such as, “He only does that when he’s excited,” not realizing that most children do not repetitively hand flap regardless of their emotional state. Parents start to see for themselves what others have seen.

The Neurologic Exam: From Watching to Touching

Box 7.1 Foreshadowing [Most of us provide some foreshadowing to our pediatric patients. Letting children know what is going to happen can reduce anxiety in most. In children with ASD, foreshadowing is essential and sometimes needs to happen before

© Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_7

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the appointment. You might allow parents and children to walk through the clinic space just before opening. You might post a virtual tour online so any parent can introduce the setting. During the exam, stating what you are doing or an accurate euphemism for what you are doing, “I want to see if you are wiggly” is the same as “I want to check your muscle tone” but usually more acceptable.]

I wondered why parents complained about how short their neurology visits were, until I learned that neurologists see everything they need in the first few minutes and certainly by the time they are done with the history. The child usually has walked in, run around, climbed on a chair, and reached for an object, all information for the neuro exam. Parents would tell me, “He only spent a few minutes with my child. He can’t know if my child has autism!” Well, of course, they can, just as you can pretty quickly tell a sick or toxic child from one who isn’t. The five essential parts of the neuro exam are mental status, cranial nerves, motor, sensory, and deep tendon reflexes. The mental status exam is, of course, age specific. Level of alertness can be determined at any age. Ability to engage in social play (smiles, peek-a-boo) is an important observation in the older infant. You should be able to engage a toddler with interesting toys. Conversation is the best tool for the preschool and school-­ aged child. Asking about their favorite show or story, an upcoming birthday, or a recent family vacation gives you a sense of language, reciprocal communication, and general fund of knowledge. Older children can be asked about school, subjects, and teachers. At some point, you can use questions from the adult neuro exam with teens. This is a good time to notice the child’s attention, ability to understand, and willingness to follow directions. Moving to cranial nerves, you can see symmetric facial movements. If the child uses lateral gaze to look at things, you have at least one abducens nerve. Maybe you can get them to look at something else on the other side. If the eyes are always aligned, both sets of extraocular muscles are probably working. Midline drooling suggests facial hypotonia. Lateral drooling suggests facial weakness on that side (VII). If they are eating a snack, can they manage chewing and swallowing? Remember that a suck and swallow action in infants covers five cranial nerves (V, VII, IX, X, XII). Any child with speech delay should have hearing tested (VIII) by an audiologist. Office tests for hearing are notoriously unreliable. If the tongue is extruded midline, then XII is operating symmetrically. Remember that, if impaired, the tongue deviates towards the weak side. In this setting, abnormal findings on cranial nerve exam, without other neurologic impairments, are very rare, so I don’t usually spend a lot of time here. Abnormal findings may emerge during feeding. An infant who can’t hold a latch while nursing, or is a very noisy bottle feeder, could be losing the seal and losing milk with each suck. Listen for the noisy feeder; look for the loss of fluid. In the

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toddler or preschooler, watching them eat a snack can be just as informative. A meticulous eater has a lot of fine motor dexterity and oral motor coordination. A  messy eater, who does not notice food on their mouths or hands, might have reduced sensory awareness. A child who does not close their mouth while eating may have low facial tone. A child who walks symmetrically, runs around the room, climbs onto chairs, or jumps up and down has given you a large portion of the neuro exam. You can tell who has low tone by how they move or sit, often slouched in a chair, or lying on the floor, because hypotonic kids have trouble maintaining good posture and fatigue more easily than kids with normal tone. In children with low tone, you want to assess proximal (hip and shoulder girdle) and distal (feet and hands) muscle strength. A child standing up from a stooping position without the Gower maneuver, seen in muscular dystrophy, indicates decent hip strength. Playing “wheelbarrow” with the child (walk on hands while adult holds legs) gives you an idea about shoulder girdle strength. If they are too young to ask, let them climb over your lap and pick up their legs. Can they hold their upper body on outstretched arms? If you have taken off the shirt already, you can look for scapular winging. Toe walkers, who do not have spasticity, have good strength in the distal lower extremities. Not letting go of something can tell you about distal hand strength. Watch for unusual movements, which can indicate involuntary movements like tics, chorea, athetosis, or autistic stereotyped movements, like hand flapping, finger flicking, or other complex, repetitive movements.

Box 7.2 [Hypotonia: I mentioned this because it took me awhile to figure out why physical therapists might say a child has hypotonia, but the neurologist reports that the tone is “within normal limits.” The difference is that PT’s note if lower tone affects the child’s function, while neurologists are looking for tone that is low enough to be diagnostically useful. They look for a degree of low tone that would warrant a neurologic work-up for hypotonia.] I have developed a variation on a technique taught to me by the late Dr. Raymond Chun, a well-known pediatric neurologist, who was my mentor. When examining children, he would whistle the theme to the movie, “Bridge on the River Kwai.” He had a beautiful whistle, which distracted the children just long enough for him to check tone and reflexes. Because I was working mainly with children with ASD but also other medically apprehensive children, I developed a sequence of preschool songs, which moves from no touching, through brief touching, to being able to move their extremities without distress (in most cases). This takes less than 5 minutes and is well worth the time spent. Please don’t think I can sing. I can’t. But little kids don’t seem to mind so much, even noise-sensitive ones. I have only been asked by one or two children not to sing, not bad over these decades of practice.

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The first song is “Twinkle, Twinkle Little Star” (English lullaby, poem by Jane Taylor, 1806, Wikipedia). Remember to make the “diamond in the sky,” which does not involve touching. It usually attracts the child’s attention without causing flight or fight responses to kick in. Some preschoolers with autism love their ABCs, which could be used instead of “Twinkle,” but does not introduce hand gestures. Next is “Itsy, Bitsy Spider” (folksong, 1910, Wikipedia), and if the child seems open to it, I will run my fingers up their legs with “up the water spout.” It feels like a tickle; some children smile, some ignore me, and some pull away. If I’ve gotten this far, the best of all possible songs is “Wheels on the Bus” (Verna Hills, 1939, Wikipedia). Children with ASD often do not like others to control their hands and will fight if you start there. With the child on a parent’s lap, I always start with legs, while singing “The wheels on the bus go round and round,” moving their feet in circles. The next verse I use is “The doors on the bus go open and shut,” and I open their extended legs to get range. Because you do this a few times in the song, you can play peek-a-boo through the child’s legs. If this is going well, I will try to take the hands at the wrists, one at a time, and say “The driver on the bus says ‘bye-bye kids,’” and I make their hands wave. If the child resists these actions, I can get a sense of strength. I can also get tone, extensibility, and a check for clonus in this little interaction. Other things to try: • Carry some bubbles in your pocket. As the child goes to pop the bubbles, see if they will use their index finger. Switch hands. You have “finger to nose” accomplished and found or ruled out an intention tremor. • Show the child a line on the linoleum-tiled floor, and ask them to walk on it, like a balance beam or tightrope walker. You can assess whether base of gait is wide (ataxia? hypotonia? weakness?), asymmetric (hemiplegia?), or narrow (normal). • Have a short picture book on hand. Brown Bear, Brown Bear, What Do You See? (Martin and Carle, 1967) is great, but many others will do. Can you engage them in the story? Will they turn the thick board page (1 year) or name the animals (2 years) or colors (3 years)? Will they identify animals using verbs: “Which one flies? Which one swims?” (2½–3 years). How clear is their speech (50% clear by 2 years, 75% clear by 3 years, and nearly 100% clear by 4 years)? For the school-aged child’s neurologic exam, you may start to get a feeling for higher academic abilities and better sensory testing: • Ask children to remember three things, like a blue dog, purple elephant, and yellow cow, and see if they remember these by the end of your exam (short-term memory). • Copy a sentence to dictation (working memory, fine motor skills). • Solve simple math problems (grade dependent, of course). • Stereognosis testing: I show the child the four basic coins and ask “What is this?” Then I ask them to name the coins and their values and, if they are still with me, how much money is there? If you don’t get an initial response, most children over 3 years can tell the biggest from the littlest coin, and you can use just the quarter and the dime in each hand and ask if this is the big or the little coin.

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• Position sense: I have younger children point to “up” and “down,” so I know the concept is there. I tell them I am going to wiggle their toe/finger and then go up or down. I may demonstrate up/down on their finger. Then they close their eyes or their parents help with that and test position sense. • Graphesthesia: If you do graphesthesia testing and the letters or numbers are too hard for the child, you can use a circle, line, and triangle instead. Child psychiatrists, mostly Dr. Mary Pearlman, taught me how to observe family dynamics and how this played into the child’s emotional life. When she first told me things about families, I barely understood what she was saying. Over time, I learned to watch parents’ interactions with their children and each other. I learned how to know how much I could tell a family and when they were ready or needed to know something. I had never learned to assess social skills of children before meeting her in 1979. You are all most likely further ahead of me when I started. There is more discussion about social skills or lack of them. There is general awareness of autism spectrum disorders. When I started, even the word was unfamiliar to people. I did have a parent ask me, “You mean he’s artistic?”

The General Physical Exam for ASD There is nothing I can tell you here that you don’t know, but I will focus on some things I’ve learned, specific for developmental evaluation. For developmental problems, the vital signs are height, weight, and head circumference, plotted on appropriate curves. Short stature, tall stature, failure to thrive, obesity, macrocephaly, and microcephaly are all clues to figuring out either the reasons for the developmental problem (syndromic diagnoses) or the consequences of the disorder (picky eating to the point of failure to thrive). For diagnostic purposes, I do not like syndrome or condition-associated growth charts. For diagnostics, I need to know how that child compares with other children their age. HEENT: I have one pearl for this section. When trying to evaluate the middle ear in any child 1 or older, I take two otoscope heads and put one on my index finger and one on the child’s. While they are looking at the cone, I take mine and just tickle the external auditory meatus while saying “tickle, tickle” with a playful intonation of my voice. I then briefly pull back on the pinnae while making any other funny noise, dealer’s choice. This is foreshadowing for the child. Then, with otoscope in hand, I make my funny noise as I pull back the pinnae and say “tickle, tickle” as I insert and look through the otoscope. This has worked well with many apprehensive children. Getting a good look at the eyes in a child with poor or avoidant eye contact is not always easy. Make a noise above the child’s head, and when they look up, take a good look at the eyes. I have tried many cover/uncover tests in my time to look for strabismus, but it has been much more reliable for me to ask the parents if the child’s eyes ever seem crossed or not straight to them. You can usually see symmetric light reflexes whenever the child looks up.

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Box. 7.3 [Tip for using eyedrops in children who do not tolerate the usual methods. Have the child lie down on a bench or couch. Ask them to close their eyes (usually already happening). Put a drop of liquid onto the lid near the inner canthus, without touching the child. When they blink, the drops go in.] Oral cavity: A younger child with ASD does not imitate adults easily and is less attentive to the verbal command, “open your mouth.” When I want to see the palate and oral structures, I ask a parent to play with the child a bit and then tip him upside down. Most kids open their mouths allowing you to see the palate. The only thing you can’t see in this position is a bifid uvula. Abdomen/genitalia: Make use of any diaper change. Encourage parents to change a diaper during your exam. I ask them to take off all the child’s clothes, if possible, or clothes below the waist if the child objects to this change in routine. I can usually get an abdominal exam in, looking mostly for hepatosplenomegaly suggestive of a storage disorder. Genitalia exam can reveal structural abnormalities such as macroorchidism, undescended testes, shawl scrotum (failure of midline development of the scrotum at the dorsal base of the penis, creating the look of a shawl wrapped around the penis), and all possible clues to syndromic causes. Skin: You can examine the skin for hypopigmented spots (possible tuberous sclerosis) or hyperpigmented macules (possible NF1). While there are many common skin lesions in newborns, other, rarer, skin findings have developmental significance, including the swirling pigmentation of incontinentia pigmenti or Blaschko lines, suggesting mosaicism. Vesicular lesions warrant full evaluation in newborns for herpetic disease or disorders of skin formation. Cardiovascular: Getting a good listen to the heart is often a greater challenge and can amount to knowing if there is a loud murmur or not. We do our best. Syndromes associated with congenital heart disorders and ASD include Down syndrome, 22q11 deletion syndrome (velocardiofacial syndrome), Williams syndrome, congenital rubella, and fetal alcohol syndrome. Extremities: Extremity deformities can be associated with genetic syndromes, some of which can cause significant developmental disability. See below.

 he Dysmorphology Exam: Looking for Clues for a Specific T Cause of the Child’s ASD Just as I could use a review of cardiology, perhaps some of you would like a review of dysmorphology. Others may wish to skip this section and look at specific syndromes that have been associated with autism spectrum disorders. This is not a comprehensive review but rather findings that have helped me in caring for children with developmental disorders, especially ASD.

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Dysmorphology is seeing genetics and embryology manifest in a child. It was fascinating to me that the malformed external ear of a child could be the result of the failure of correct fusion of the hillocks that form the pinna and that certain syndromes were associated with that failure of form. The reasons to learn to look for indications of a syndrome include: 1 . Why a child is delayed or has a physical difference 2. Whether there are associated medical conditions to watch for 3. Whether there is an increased risk for future children in the family 4. Reassuring parents that there was nothing they actively did or did not do that caused this problem General Impression  One of our first and best alerts to the presence of a syndrome is our first gestalt impression that “something is physically different about this child.” This may be because of disproportionate physical sizes (head too large or small, arms too long for body, short or tall stature) or a sense that there are physical, often facial, characteristics that are different from your own internal sense of a “typical child.” Once we have this sense, the systematic examination of the child’s physical form will help you figure out just what is different. Although most of us also look at parents to see if there is a familial resemblance, that can be either useful or misleading. Sometimes, a parent and child look alike because they both have the same syndrome. I have seen a mother and son both with Noonan syndrome and a mother and son both with Williams syndrome. I am not reassured by familial resemblance, especially if the parent has an unusual presentation, such as short stature or intellectual disability. First, we start with physical measurements and percentiles. For those of you who are reading this section without the previous one, it bears repeating that the length or height, weight, and head circumference with percentiles for age are the most important vital signs for a developmental chief complaint. Short stature, tall stature, failure to thrive, obesity, or microcephaly or macrocephaly each sends your thoughts down a different differential diagnostic path. There is no worse feeling (there is, but for the sake of this paragraph) than finding out after a child left the office that they are microcephalic. Short stature with developmental delay is associated with chromosomal abnormalities, endocrine abnormalities, dwarfing conditions, and other genetic disorders. Tall stature is seen in Klinefelter syndrome (XXY), which can be associated with developmental or learning differences. Tall stature due to Marfan is unlikely to be associated with developmental problems. Macrocephaly can be a clue to hydrocephalus or megalencephaly (big brain, associated with autism). The megalencephaly in ASD has been theorized to be due to inadequate apoptosis or lack of appropriate pruning of synapses and neurons. Parents may tell me that “big heads run in the family” and dismiss my concern. This has happened so often in autism clinic, but not ADHD or cerebral palsy clinics that I think that familial macrocephaly can be one of the risk factors for ASD. Microcephaly is associated both with prenatal and perinatal brain injury, which reduces brain growth

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potential, and syndromes involving abnormalities in neuronal migration, where cells do not travel properly to form brain structures to various degrees. While about 10% of typically developing children may have heads below the 2nd percentile, 90% of children with head sizes that small have academic delays [1]. Abnormal weight for age can also give you diagnostic insight. I often hear a history of poor latch and suck in the first few days of life. Most moms will switch to bottle feeds of breast milk or formula if the baby does not gain easily, but some are very dedicated to nursing and may persist until the baby’s weight falls in percentiles. Feeling for a good suck and swallow can tell you a lot, as can looking for evidence of hypotonia. The differential for the “floppy baby” is quite long and involves serious, sometimes fatal conditions, but in this context, mild hypotonia is common in children with a variety of neurodevelopmental delays (see section “The Neurologic Exam: From Watching to Touching”). The baby who will have autism may not tolerate progression to solid foods, especially as textures increase, but others may seem to be eating well until 18–20 months, when their diets become very restrictive. From here, a child with ASD can go on to develop failure to thrive or obesity, often secondary to their intensely felt sensory issues. I have more often run into failure to thrive or gain weight when parents are using a restrictive diet of some sort. The craniofacial exam is most likely where you will figure out why a child looks different to you. Look for craniofacial disproportion. The face should take up 1/3 of the head in infancy and 1/2 in adults, when viewed from the side. Look at the child’s profile. Is the nose prominent? Is the nasal bridge high or depressed? Is the ear normally placed? A line drawn between the outer canthus of the eye and the occiput should intersect the top 1/3 of the pinnae. An outer ear that sits completely below this line is low set and usually posteriorly rotated, as the ear in fetal life moves from the area of the chin upwards and rotates up to vertical. The eyes provide several important clues to physical development. Of course, unusual or multiple colors (heterochromia), tear-drop shaped pupils (coloboma), and poor reactivity to light are all important to see. If the measurement from pupil to pupil is too short (hypotelorism), you learn how close the orbits are to each other, sometimes suggesting a smaller brain. If the pupil-to-pupil measurement is too long, this is hypertelorism, seen in some clefting syndromes or craniofacial dysplasias. If a line drawn between the inner and outer canthi (corners of the eye) of each eye results in the outer canthus being higher than the inner canthus, this is called upslanting palpebral fissures, as seen in Down syndrome or other conditions that cause an imbalance between forebrain growth and maxillary (cheek bone) growth. If there is normal maxillary growth and smaller forebrain growth, you get upslanting fissures. If you have normal forebrain growth and impaired maxillary growth, as in Treacher Collins syndrome, you have down slanting fissures. The length of the palpebral fissure is very important in developmental sleuthing. Short palpebral fissures lead to more detailed questions about possible prenatal alcohol exposure. (“Do you think you had any alcohol before you knew you were pregnant?”) Long palpebral fissures are seen in Kabuki syndrome, a genetic cause of intellectual disability and autism spectrum disorder.

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You can find normal values for basic eye and ear measurements in Smith’s Recognizable Human Malformations [2]. Everything that can be measured has been, and the normal standards co-authored by geneticist Judith Hall in The Handbook of Normal Physical Measurements, 1989, in its 3rd edition, with first editor now Karen Gripp [3]. I have selected a few of the more prominent syndromes that can cause autistic development. Many syndromes that cause developmental delays have also been associated with autism. This is likely related to the previous statement that ­anything that can alter brain development can be associated with a higher rate of ASD. Fragile X syndrome  FXS is the most common inherited cause of intellectual disability, and somewhere between 25% and 47% [4] of children with FXS also have autism spectrum disorder, making it the most common single gene cause of ASD. Both boys and girls are affected, and the classical phenotype (large head, long narrow face, prominent ears, macroorchidism) is more commonly seen in affected males. The macroorchidism might not be noticed until puberty but can be striking. Other physical features include soft, “velvety” skin, high-arched palate, pectus excavatum, scoliosis, hypotonia, and hyperextensible joints. FXS is caused by a triplet repeat mutation involving the FMR1 gene. If the triplet repeat number exceeds 200, the FMR1 protein is not made, and the individual has FXS. Young children present with global developmental delay, with boys functioning at about half their chronological age. Girls may be more mildly affected because of the potential modifying influence of the second X chromosome. Early identification of the first child gives the family the most information with which to make further reproductive decisions. Many times, the first child is identified after the second child is already born, leading some to advocate for newborn screening for this condition. Identification of FXS requires consultation with a medical geneticist, as the genetics of this condition are complex and involve medical complications for apparently unaffected carriers. If there is a long wait for a genetic appointment in your area, ask parents if it is important for them to know the odds before having a second child. Encourage them to read information at the fragile X syndrome official website and, if prenatal testing or the odds are important factors, then to try to wait for that appointment before making life-altering decisions. I had one mom tell me “I wish I had had all my children before we ever learned about this fragile X thing. I wanted four or five children. Now we have one.” Not everyone wants to know. It’s best if we ask. Rett syndrome  Rett syndrome is a clinically defined condition, which in its classic form affects females and is due to one of several common mutations in the MECP2 gene, an X-linked gene whose job is to downregulate other genes. The classic course involves a little girl, who has normal or mildly delayed development until 12–18  months, when their development plateaus. Usually between 18 and 24 months, the child experiences a developmental regression, which can be very acute (72 hours) or slow and indolent (over the next several months). Regression usually affects all spheres of development, most characteristically the loss of

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p­ urposeful hand use. The very first description was in the Handbook of Clinical Neurology by Vinken and Bruyn in 1969 by Dr. Andreas Rett and originally reported in German. There was an English abstract available, but it was associated with hyperammonemia. Metabolic specialists disregarded the report because of the way the ammonia levels were measured, so this report did not gain traction (Stanley Berlow, M.D., personal communication). The initial cohort described in English in a prominent journal by Bengt Hagberg in 1983 found that 40% of the girls also had a diagnosis of autism. This led to the inclusion of Rett syndrome as one of the pervasive developmental disorders in the DSM-IV. Primary care practitioners are in the best position to make this diagnosis very early in life, as the very first clinical sign is often declining head circumference percentiles, which can start by 4–6 months of age. If treatment options develop for this condition, such as techniques to reactivate the inactive X chromosome, early diagnosis will have an important role to play. There are other mutations discovered in MECP2, which do not consistently produce the same clinical profile, and are sometimes referred to as “Rett syndrome.” Down syndrome  This is the genetic syndrome that almost all pediatricians and most other primary care practitioners can recognize consistently after birth. Clinical diagnoses of Down syndrome are very accurate for babies with full trisomy or translocation [5]. Mosaic trisomy can be missed in the newborn period. Even if the facial features may seem inconclusive, one of the hallmarks of DS is a small head circumference for gestational age. A term baby should not have a head circumference less than 32 cm. The most specific findings are upslanting palpebral fissures, endocardial cushion heart defects, and Brushfield spots (white dots around the limbus, or outer edge, of the iris). Other characteristics commonly known, but not specific to the condition, include hypotonia, epicanthal folds (fold of skin that covers the inner canthus), transverse palmar creases, and sandal-toe gap, which occur with other conditions or can be a variant of normal. Williams syndrome  Williams syndrome is caused by a deletion at 7q11.23. The features that are characteristic include hair, which is often wavy and coarse, blue eyes with a stellate pattern to the iris, and a large mouth which opens up into a beautiful but wide smile. Not all children have blond hair and blue eyes but are usually lighter-colored than their parents. Most children with Williams syndrome are picked up in cardiology clinics because of supravalvular aortic stenosis or, if they have had blood drawn for another reason in infancy, hypercalcemia. There is a well-known behavioral phenotype that includes friendliness to strangers and “cocktail party chatter.” At first glance these children should not have ASD, but if one looks more closely at the child’s social skills, one can find a lack of social awareness and lack of social reciprocity. The approach to random strangers shows lack of knowledge of appropriate social rules, and the words spoken to others are not conversational. The current concept of ASD can include children with these social skill deficits.

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Story [A grandmother, mother, and 17-month-old baby came to our clinic because of concerns about developmental delays and failure to thrive. The baby had not been eating well, and the mother had a mild intellectual disability, so it was thought that the failure to thrive was environmental. The maternal grandmother was her daughter’s guardian and was visibly upset that her grandchild also had delays. I thought that the baby had Williams syndrome by appearance and history of congenital heart defect, but adults with syndromic conditions often look a bit different than their childhood counterparts. Grandmother volunteered that she had been to this center where I worked when her daughter was 2, but could not quite remember what she was told about the diagnosis. She then said that it had something to do with infantile hypercalcemia, which as the name for Williams syndrome in the 1970s, long before the diagnostic test had been discovered. When I told grandmother what I thought was going on, she said, “He (a family doctor) told me it wouldn’t happen again. That the ‘odds were one in a million’.” The odds were actually 50%, as the child inherited either mom’s chromosome 7 with the deletion or the one without it. Sometimes our need to reassure parents triumphs over our need for caution.]

Tuberous sclerosis (TS)  The brain and skin come from the same tissue (neuroectoderm) in the embryo, so it is logical that the skin can sometimes be a window into the brain. The classic skin lesions in children with TS are the hypopigmented macule, called the “ash leaf spot,” and a Shagreen patch, a raised lesion that looks like orange peel, called “peau d’orange” because you can easily see the pores. Adolescents develop angiofibromata, raised red bumps along their nasolabial folds, which sometimes is mistaken for acne. The hypopigmented macules can be hard to see on fair children in room light. Asking parents if they have ever seen any white or brown spots on their child’s skin can be helpful. Sometimes to see them clinically, a UV light called a “Wood’s lamp” can be turned on in a dark room, with the child’s skin exposed. TS is commonly associated with epilepsy and global development delays/ intellectual disability; however, there are occasionally children with TS who have seizures but normal development. Parents who carry the gene may be asymptomatic. The ASD that occurs in TS is associated with ID. There is quite a controversy, as some believe that ASD is secondary to ID: that the repetitive behaviors that lead to the ASD diagnosis are really secondary to severe intellectual disability. Currently, most specialists in this area will diagnose ASD if ASD criteria are met and if the child’s developmental level is at least 1 year of age, regardless of etiology. NF1  Perhaps the best known neurocutaneous syndrome, neurofibromatosis type 1 has been associated with autistic development in about 10% of affected individuals [6]. The cardinal feature is the presence of six or more café au lait spots greater than

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0.5 cm in children and 1.5 cm in adults. Everyone is allowed 1–2 café au lait spots; the increased number is important for the diagnosis. Typically affected people have more than six, and these can begin to accumulate starting in infancy. The mutation is in the gene NF1, which makes neurofibromin, a tumor suppressor. Without functioning neurofibromin, the person with NF1 is at risk of both benign and malignant overgrowths. Other neurodevelopmental complications include ADHD, learning disability, and visuospatial (nonverbal) challenges. Story [This is one of the easy diagnoses I missed on a 2-year-old, who was severely affected by his autism. I spent our time together seeing how he interacted, reacted, and played. I did an ADOS-2 to be complete and a detailed interview with his parents. I did not take off his clothes, which would have revealed his multiple café au lait spots, later found by genetics.] Genetic Testing 101  Because 2nd year pediatric residents sometimes do not really understand the differences between genetic tests when I work with them, there are perhaps some who would like a very brief overview by a non-geneticist. The story of chromosomal analysis and clinical genetic testing parallels the notion of increasing resolution, like moving from a backyard telescope to the Hubble. When I started, we had G-banded chromosomes, which could identify MAJOR abnormalities such as trisomy, monosomy, or large deletions, duplications, or translocations. The bands of light and dark on this Giemsa stain are typically the same in each chromosome pair. High-resolution chromosomes took a big step towards improving what could be detected. By definition, this type of karyotype could identify at least 550 bands, up to 800; some claimed up to 1000. More children were being identified with reasons for their delays. There was a brief period when we ordered telomere analysis, because telomeres are the gene-rich ends of chromosomes, which had a good yield but did not analyze the rest of the chromosome. When we talk about chromosome analysis now, we usually mean “aCGH” or array comparative genomic hybridization, also called “microarray,” which can analyze over 50,000–100,000 pieces of chromosomes and has led to identification of “microduplication” and “microdeletion” syndromes. All of these tests are still chromosome-based and do not identify single gene disorders, unless a gene is known for sure to be in one of the deleted or duplicated regions. There can be several known genes on each array segment. We get down to the gene level when we, or more likely geneticists, order “whole exome sequencing,” or “WES,” also referred to as “next-generation sequencing,” which analyzes all of the coding regions in one person’s genome. Whole genome sequencing is not clinically used currently but is like having your own Human Genome Project and analyzes all of a person’s DNA sequences. More is being learned about the role of noncoding DNA in the regulation of genes and about the factors that determine whether a gene is transcribed or a protein produced in studies

References

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on “epigenetics.” There is emerging information on the role that these regulators may play in the development of ASD. If your patient has had a FISH test (fluorescent in situ hybridization), the ordering clinician had a good idea of the problem on a clinical basis, such as Williams syndrome, or 22q11.2 deletion syndrome, and wanted a specific, confirmatory test for the known deletion, or sometimes duplication. This is cheaper but only useful if you know what diagnosis you seek. Then one can order specific gene testing. Again, this is less expensive than something like WES, but you are looking for specific conditions. Some labs offer chips or panels of genes for things like intellectual disability, epilepsy, deafness, or other syndrome complexes. The major issue with almost every test is cost coverage by a third-party payer. It is easier to get coverage if there is either treatment for a condition or reproductive risk for future children. Metabolic or biochemical testing is not covered here, as I have rarely (I can’t recall any) had a child with ASD alone, who had a known and responsible inborn error of metabolism. This is not to say that many work-ups have not been generated, often at the request of parents or by purveyors of nutritional supplements, but this avenue of investigation has rarely been useful in finding a recognized disorder. In children who have both ID or GDD and ASD, or ASD and significant hypotonia, it is much more important to complete metabolic testing and in this setting worthy of a referral to a medical geneticist, 80% of whom are now also pediatricians.

References 1. Sells CJ.  Microcephaly in a normal school population. Pediatrics. American Academy of Pediatrics. 1977;59(2):262–5. 2. Jones KL, Jones MC, Del Campo M. Smith’s recognizable patterns of human malformation E-Book. London: Elsevier Health Sciences; 2013. 3. Gripp KW, Slavotinek AM, Hall JG, Allanson JE.  Handbook of physical measurements. Oxford: Oxford University Press; 2013. 4. Hatton DD, Sideris J, Skinner M, Mankowski J, Bailey DB, Roberts J, et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A. Wiley-Blackwell. 2006;140A(17):1804–13. 5. Devlin L, Morrison PJ.  Accuracy of the clinical diagnosis of Down syndrome. Ulster Med J. Ulster Medical Society. 2004;73(1):4–12. 6. Eijk S, Mous SE, Dieleman GC, Dierckx B, Rietman AB, de Nijs PFA, et al. Autism spectrum disorder in an unselected cohort of children with neurofibromatosis Type 1 (NF1). J Autism Dev Disord. 3rd ed. Springer US. 2018;51(1):10–8.

Chapter 8

Assessing Current Developmental Levels and Making a Diagnostic Decision

Through our history, observations, and exam, we start to get a sense of a child’s developmental level. Sometimes we are lucky, and a 0–3 program has already done this for us and parents bring the report. Often, developmental delays are first discussed with a primary care provider when a parent notices a difference from other children or when a child fails a developmental screener. It is important to try to assess this, because a diagnosis of ASD involves social impairments compared to developmental age. Knowing levels also helps you advise parents on appropriate parenting strategies. For example, you would not suggest a star chart or token economy if the child does not connect their actions to a reward or if they do not have number concepts. More on that subject will be discussed later in Chap. 15 on effective and positive parenting.

Children Under 3 Years For children under 3 years, getting the critical milestones from parents along with history (see questions in Chap. 5) can help you into the right ball park. For all children, we should have a sense of the different developmental arenas: language (receptive, expressive, speech, and social use), fine motor, gross motor, self-help, and social abilities. Cognition can’t be assessed directly by us, but the two areas that give us a window into cognition are receptive language and how a child plays (repetitive? pretend?). Social skills are another area that we usually don’t learn to assess. In addition to those ideas already suggested (see Chap. 4), look for: • Turn to name when called by either you or parent. • How a child asks parents for something. Verbally? Nonverbally (e.g., grabbing parents and pulling them to door)?

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• How a child uses their hands to communicate—do they point to something they want? Do they point to show parent something interesting (1-year-old skills)? Do they wave “hi” or “bye?” Do they use either gesture or words, but not at the same time? This takes practice to notice, so try it first with typically developing children. For the 2–3-year-old, I love using a very basic picture of several animals, or a wooden-knobbed puzzle with animals. I start with the hardest question, “Which one flies?” (or hops, swims, etc.), which children usually get during this age range. Then I ask, “What is this?” to see if they have the names for animals, an easier question. If they have not engaged, I ask, “Where’s the bear?” which only involves pointing. This gives me direct information about receptive language and how much the child is willing to interact with me. Bubbles are often a hit with young children. Delighted smiles come from most children of any age. Sometimes this elicits repetitive hand flapping or jumping. Sometimes children will point accurately to pop them. For the child who has not yet spoken, I say “Bubbles!” and smile. If the response is “buh-buh,” I can document a “b” sound. A couple of times, I elicited fear. Two children I remember were frantic that the bubbles might fall and touch them. Their sensory issues outweighed any pleasure, which was important information.

Children 3 Years to School Age For children 3–8 years, I have found that the “Draw-a-Person” test (Harriet Lane Handbook, 9th edition) [1] is one of the most useful tools available to us as clinicians with very limited time. It used to be called the “Goodenough-Harris Draw-a-­ Man test” but was changed to “Person” with increasing awareness of gender bias. Giving a child a blank piece of paper and a #2 pencil and asking them to “Draw a person for me, a whole person” has helped me identify delays and better understand the child with ASD.  The child can work on this, while you talk with the parent. There is no time limit. The only rule is that adults may not prompt the child to add parts. Most parents are used to helping their children and will add “What do you see with?” or “What are you missing?” which lowers the value of the test. The list of items, for which each part gets one point, and the scoring chart are in Fig. 8.1. Get the total score and compare it to the age estimates, which allows you to assign an age level to the drawing for children between 3 and 8 years. If you cannot recognize a body part, ask the child “What is this?”

Box 8.1 [For the reluctant drawer: Children may refuse to draw for a variety of reasons. They may be apprehensive, may not know what you want, or may be afraid that they won’t do the task correctly. For these children, I use a game my mother taught me, which we called “Squiggles.” I give the child a blank

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piece of paper and a writing implement and asked them to scribble anything. If needed, I demonstrated. The child would scribble something. I would make it into something, anything. Art talent is not required. If circular, I could make it a balloon or cloud. If back and forth, I could put wheels on a “train” and add a track. I just wouldn’t draw a person. After this desensitizing activity, children were much more willing to try to draw a person for me.]

Instructions: 1. Give the child a blank piece of paper and pencil. 2. Ask the child to “Draw a person, the best person you can.” You may add, “Draw a whole person.” 3. Score one point for each of the following details. 4. Find the total score on the Scoring Chart and find approximate age of the drawing. Details: 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17.

Head present Neck present Neck, 2 dimensions Eyes present Eye detail: brow or lashes Eye detail: pupil Nose present Nose, 2 dimensions, not round ball Mouth present Lips in 2 dimensions Both nose and lips in 2 dimensions Both chin and forehead shown (as in profile) Bridge of nose (straight to eyes; narrower than base Hair I (any scribble) Hair II (more detail) Ears present Fingers present

18. Correct number of fingers shown 19. Opposition of thumb shown (must include fingers) 20. Hands present 21. Arms present 22. Arms at side or engaged in any activity (waving, throwing a ball, etc.) 23. Feet, any indication 24. Attachment of arms and legs I (to trunk anywhere) 25. Attachment of arms and legs II (to correct point in trunk) 26. Trunk present 27. Trunk in proportion, 2 dimensions, length greater than breadth) 28. Clothing I (anything) 29. Clothing II (2 articles of clothing)

Scoring chart: Look up score on right, find age equivalent on left. Age

By boys

By girls

3 4 5 6 7 8

4 7 11 13 16 18

5 7 12 14 17 20

Adapted from: The Harriet Lane Handbook, Ninth Edition. Johns Hopkins Hospital, Biller JA and Yeager AM eds, 1981.Chicago. Year Book Medical Publishers.

Fig. 8.1  Give your drawing one point for each of these parts drawn, and then look for the total number of parts on the scoring chart. Trace back to get the age of the drawing. (Adapted from Biller and Yeager [1])

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This is not an IQ test, and it should never be substituted for one, but it does give you a snapshot of many abilities in a very short time. Does the child refuse (oppositional, anxious, or not sure how to do this?)? Does the child know how to hold a writing implement? Do they use the other hand to stabilize the paper? Do they rush through the activity (impulsive?) or take a very long time and have to erase and start over (compulsive? perfectionist?)? The resulting drawing is almost always informative, giving you an idea about the child’s ability to represent a person on a two-dimensional page, fine motor skills, visual motor skills number concepts (how many fingers?), and an estimate of developmental level. The fact that this test does not correlate with IQ scores when evaluated that way, to me, does not mean that it isn’t useful. Following the scoring system, get the total and use the chart to see the developmental age of the drawing. This is also one piece of data that you can obtain on your own, using a minute or two of your time to score. I think you can say that “Your child’s drawing is similar to a child who is ___ years old” which, if lower than the child’s age, can at least help a parent to know there may be some delays. In any event, the child had something to do while you were talking, which contributed to the overall clinical impression. Detailed examples follow, all of which were based on real children’s drawings in the office (Figs. 8.2, 8.3, 8.4, 8.5, 8.6, and 8.7). Once children are in school, there is a wealth of information on children. As PCP, you are no longer the only professional looking at a child’s development. Older children have report cards and parents, who have been told by the school that their child is doing well academically or not. Fig. 8.2  One point each for head, eyes, and mouth. Score 3. Age: under 3 years

Children 3 Years to School Age Fig. 8.3  One point each for head, eyes, mouth, arms, and hair (any scribble). Score 5. Age: for boy 3½ and for a girl, 3 years

Fig. 8.4  One point each for head, eyes, nose, mouth, trunk, arms, and feet. Score 7. Age: 4 years for either boy or girl

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Fig. 8.5  One point each for head, eyes, pupils, nose, nose 2 dimensions, mouth, hair, trunk, arms, fingers, and feet. Score 11. Age: 5-year-old boy, just under 5-year-old girl

Fig. 8.6  One point each for head, eyes, nose, mouth, hair, fingers, correct number of fingers, arms and legs to trunk, to correct point in trunk, trunk present, trunk longer than wide, feet, and clothing and at least two pieces of clothing. Score 13. Age: 6-year-old boy, just over 6-year-old girl

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Fig. 8.7  One point each for head, neck, neck 2 dimensions, eyes, nose, nose 2 dimensions, ears, hair, fingers, arms, feet, arms and legs to trunk, to correct point in trunk, trunk present, longer than wide, and clothing I and II. Score 18. Age: 7½-year-old boy, 7-year-old girl

In first or second grade, children with ASD are sometimes able to compensate for lack of understanding with their amazing memory. They may be early readers, but remember what words look like, not yet able to sound out words phonetically. They can remember math facts and may count to 100 early. This does not tell us what they understand. I often foreshadow for parents that school might go well for the first couple of years but the child may struggle more in upper elementary grades when the material becomes much more abstract. Foreshadowing helps parents as well as children.

Compare a Child’s Sociability to the Developmental Level Combining what we’ve learned from history and assessment, we should have a reasonable idea of a child’s developmental levels, at least enough to see how they compare to social skills. If you’ve used the Child Development Inventory, you can see a typical pattern for ASD: adequate gross motor skills, slightly lower fine motor skills, lower receptive language, lower self-help skills, and often lowest, social skills.

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Sometimes a chart is useful. The chart should have ages such as 0–6, 6–12 months, 1 year, 18 months, 2 years, 3 years, and 4 years on one axis and the skills on the other axis. I give a blank form to residents and ask them to fill it out with what a typical child that age can do. One thing that emerges from this exercise is that 4-year-olds are amazingly competent people. They have mastered important self-­ help skills such as toileting, dressing, or even fastening. They speak in full sentences and paragraphs, tell stories, and ask and answer “wh” questions. Friends are important to them. They can draw pictures, a person with seven parts, and use their imaginations. They can peddle a wheeled vehicle, run, jump, and hop. Most of the hard developmental estimating we have to do involves children under 4 years of age. Sometimes it’s hard to give an age level to social skills. However, most parents have a sense that socially, their child is like or not like other children their age. A sense of social difference is important, if it’s hard to estimate social skills. You have developed an opinion about whether you see differences in the child’s social interactions and whether those are suggestive of ASD or not.

Making a Diagnostic Decision It’s time to make a diagnostic decision. Does the child have a history supportive of ASD, and did they meet sufficient diagnostic criteria? All 3 social communication criteria and at least 2/4 behavioral criteria are needed. Did you get a sense about the normalcy of their neurologic and dysmorphology exams? Are there medical concerns? You have the history of developmental unfolding. You know if there were social and language problems that were present in infancy or early childhood. You have checked the diagnostic criteria that apply. You have an approximate age level for the child’s development in several areas. You have observed the child and have seen negative and/or positive signs of autism, or not. You have done an exam that has looked for evidence of neurologic or genetic syndromes. You have all the data you need to come to one of the following conclusions: 1. The best way to describe this child’s developmental pathway is “autism spectrum disorder.” 2. “Autism spectrum disorder” does not describe this child’s developmental pathway. 3. There are complicating circumstances that make me unsure as to whether ASD fits or does not fit. Even for specialists, it is sometimes hard to commit to the diagnosis. At this point, remember that if you suspect ASD, the child will be best served by the discussion with the family. Know specifically what you were looking for, and what you saw or didn’t see. If you think that ASD does not fit what you have heard and seen, remember that the alternative is not usually, “Your child is fine.” There is something else that

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has led to these concerns, this evaluation, and it probably has another name. Think about what else might be a better fit (see Chap. 19). Get more information from pediatric therapists if you think it is mostly developmental delay or child psychologists if you think it is primarily emotional, behavioral, or cognitive. A referral to the 0–3 program for delays or the school district after age 3 will lead to more evaluation, more data, and possibly the data you need to firm up your diagnosis. For everyone’s peace of mind, and depending on where you live and your access to resources, consider an autism center evaluation at a center-based program with an interdisciplinary team. This is especially recommended for children who have complex psychosocial or medical conditions that have altered their early life experiences. Making the referral does not mean you have to wait for that evaluation before talking with the family and making recommendations. The brain of the young child cannot afford to wait. Get language-delayed children into speech and language therapy. Get kids with sensory processing problems or fine motor delays to a pediatric occupational therapist. Sometimes the school district is the main or only avenue to therapy. Teach positive parenting skills to the parents. Direct parents to reliable resources, many of which have been referred to in this book. Acknowledge that there are challenges, and help the child and parent get on the best track to progress.

Make Medical Recommendations I have not found an excellent or recent consensus about the medical evaluation of a child with autism spectrum disorder. Almost everyone agrees that testing for fragile X syndrome is essential for all children with ASD, regardless of developmental levels. Children with average IQs can have FXS, although it is uncommon. Children who do not look dysmorphic can have FXS.  The importance for parents’ future children and all the siblings on mother’s side of the family makes this one test more essential than others. Neurologists tend to order more brain imaging and EEGs. Geneticists tend to order more genetic testing. A good guideline is that any child with ASD and global developmental delays should be referred to a medical geneticist or child neurologist. The combination of ASD and GDD or intellectual disability is much more likely to turn up a specific cause by these specialists. Children with ASD and significant hypotonia also need referral for possible neurologic or metabolic disorders. Children with ASD and average to above average overall development, at this time, are unlikely to have a specific cause for their ASD found even after extensive testing. Other medical recommendations are specific to what came up during the exam, hearing, vision, sleep problems, constipation, restricted diets, heart murmurs, etc., and should be individualized to your patient, following standard procedures. Each

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child with ASD is like each child you see. Their medical symptoms or findings on exam should lead to evaluation established for those concerns. You may be asked by a parent to order tests that were recommended by another medical group, often, in my experience, purveyors of an alternative intervention or theory about what causes autism. If there is no medically valid reason to do these tests, I decline this opportunity.

Reference 1. Biller JA, Yeager AM, editors. Harriet Lane handbook. 9th ed. Chicago: Yearbook Medical Publisher; 1981, 328 p.

Chapter 9

Discussing Your Findings with Parents: Saying the “A” Word

The first time the “A” word, autism, is spoken in your office may be in the context of introducing the possibility to parents. If the parent has asked “Does my child have autism?,” then at least they have thought about ASD, or a relative or friend has seen something concerning, and parents summon their courage to ask you. Even if you only say that you agree that this is something that deserves further evaluation, this moment is life altering, and parents will remember what you said and how you said it for years. It is harder if parents have not thought about it before. Some ways to brooch the topic: “I know you are concerned about Sammy not talking at 2 years of age. You mentioned that he lines up his toys, and I saw him flap his arms. These are some of the symptoms seen in children with autism.” “I see the Birth-to-Three therapist noticed that Jane doesn’t make eye contact with them. We’ll make sure her vision is OK, but lack of eye contact is one of the features of autism.” “You asked about the possibility of autism. It’s a very big spectrum now, with a wide range of abilities. I saw some things that make me want to look into this further.” “I know you said that all the boys in your family talk late, but are fine as adults, and that you are hoping that this is the case for George. George is 2 years old and not talking. We can’t tell if he will be like your relatives or not at this point, and I don’t want him to miss out on any help that might make a difference.” “We have a screening test for autism, and your child showed a number of those characteristics on our screen.”

If you are the first person to say “autism” and the parental reaction is sadness, sit as long as you can. I had one mom who sobbed for 30 minutes. I had to move her to another spot, where she could recover in her own time, fortunately, with a social worker. Don’t try to talk at parents if they are visibly distressed. Let them know that you would like to spend more time with them and their child, which you can schedule, and time to lay out a plan. If the spouse is there, they can be a great support, or not. You can tell a lot from the (usually) husband’s reaction to the (usually) wife’s tears. I’ve seen loving comfort, with dads who move closer to the moms, hug them, or at least put their arms around them. I’ve seen dads who literally do nothing to

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help the moms, who don’t say anything, and who just wait until the moms are done crying. All families react to unexpected news in their own way. As you know, with any challenge, a family can draw together or split apart. The statistics on divorce after having a child with autism range from not being greater than parents without a child with autism to an 80% divorce rate [1]. The Freedman study is population-based and did not find an increased rate of divorce in parents of children with ASD [2]. There could also be bias of ascertainment, which parents signed up for different studies, to explain the wide variations. Before the family leaves the office, please give them ways to find correct information on autism spectrum disorders. I think Autism Speaks, a well-known and respected source of information for parents and professionals, has a website that provides the most reliable information easily available (autismspeaks.com). They have a section called “The First 100 Days,” to help parents right after a diagnosis. The American Academy of Pediatrics has information on autism that you may have or wish to have on hand. If you don’t guide parents to reliable websites, they end up on very dangerous sources of “information” that will not benefit their child. If you are going to do more evaluation yourself, schedule a time when you can do as much as you can to figure out how best to describe the child’s development and to look for any signs of a biologic cause. For the child who has many positive signs and seems “classically” autistic, you have the ability and now the tools to make this diagnosis. You have come to a diagnostic impression and are ready to share those impressions with the family. The final diagnosis can be traumatic, but hopefully, with your relationship with the family, and the fact that you have discussed this at the earlier visit, the diagnosis will be the key that opens the door to services, and while parents can be sad, they have had a little time to get used to the idea, read about it, and know what some others are doing. I try to be optimistic and hopeful, without ever telling parents something untrue. I do not say “Everything will be fine” or “I’m sure he’ll do great with this therapy” because I don’t know those things. I don’t say “He’s so smart, he’ll do great in school” because IQ is only one factor that contributes to ultimate success. What I do impart is the idea that there are many things that can help the child with ASD/ autism, and I will help connect the family with the next steps to take. Truth-telling is hard, but try to give the family what they need to know to help their child. In the long run, parents will appreciate candor. The following is a list of questions parents may ask you at that diagnostic visit and ways to answer or address those questions. Keep kindness in your heart and affection for the child in the open. This will help the family accept what you are asking them to do, even if they don’t want to. I have included a FAQ handout for parents that you can reprint and give to parents in Appendix A. I will cover some of those topics here.

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Ways to Answer Some Tough Questions from Parents I first learned how to explain things to parents from my mentors, the same way we all learn to deliver diagnoses. If I liked the way they answered a question, I adopted that method, and over the years tailored what I said based on previous experiences (good and bad) and made it fit my own words and style. I have selected a few questions that parents have asked me at that first visit, and I have suggested some possible ways to address them. I hope this gives you a place to start or ideas to add to what you already say. “What do we do next?”  (See Chap. 10) We know there are things that really help the child with autism be their very best. We need to teach your child social and communication skills that they haven’t learned on their own. Sometimes that is done through intensive training programs and sometimes through schools or developmental therapists. Before the appointment, print a list of local “autism service providers” in your area. Explain that funding may be provided by their health insurance, or the state. Have a list of resources that give reliable information. If the child is not in school and is 3 years old or older, have them contact their school district. If they are under 3, there will be a Birth-to-Three program that can help. Encourage the parent to set their child up to be successful because success generates success (see Chap. 15). This means meeting the child wherever they are in learning and language and social skills. This is just the starting point. “What does my child’s future look like? Will my child be independent as an adult?” Parents know that you really can’t know this, but they want your most educated guess. I try to normalize parental support of adult children. Most parents will help their grown-up children in different ways: college tuition, babysitting, or a loan or a gift for something unexpected. How much you will need to help your child as an adult is something we will learn along the way, together. Help them direct their energies to what they can do now, because that can help make the future as bright as possible. There are some things that your parents may want to know: • • • •

Most children with ASD learn to speak. Most children with ASD become toilet trained. Most children will be able to take care of basic self-help needs. Most children with ASD will not have an intellectual disability, but there may be learning issues along the way.

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• Most children with ASD will always have some issues to contend with in their lifetimes. A few will no longer meet diagnostic criteria for ASD. Even the most cognitively able will have lingering issues with social skills, attention, organization, or anxiety. • This diagnosis does not preclude happiness or success. • There is no test that measures the heart of a child. Did immunizations cause my child’s autism? The short and most accurate answer is “No.” However, it helps to get an early developmental history, hopefully before the statement “It was the baby shots” comes up. Most parents will tell you whether their child had difficulty breastfeeding or walked at 17 months or did not babble to them or play baby games with them. When parents wonder if immunizations were the problem, I can usually point to something they have told me that predated that immunization. If parents are true believers, totally committed to this idea, then facts really don’t affect them, just as facts don’t affect true belief in any other area of life. In these circumstances, I have had parents who rewrite the early history of the child to be perfectly normal. They have to make the story fit what they are telling you. Regardless of belief, most parents still want to get help for their child and often need a diagnosis to get it. About 30% of children with ASD present with some language regression around 18–24 months, which coincides with some immunizations. When I started practice, the DPT shot was given at 18 months, and then regression was noted. We know that association in time is not related to causation. We know that you can be born with a propensity for a disorder and not show symptoms until later in life. If needed, I tell parents that people with Huntington’s disease are born with the gene for that, but do not develop loss of skills until their 40s or later. How will my child do in school? When will we know? Academic achievement is likely for many children with ASD. For the verbal child with average or above average intelligence, learning, reading, and math will progress as expected. If the child has other diagnoses, such as ADHD, intellectual disabilities, learning disability, or language disorder, the picture becomes less clear. Cognitive testing starts to have predictive value around 6–8 years of age. By first or second grade, parents can get a better idea about how hard learning will be by having standardized cognitive testing done. No single test predicts the future, of course; however, children can exceed expectations of parents and professionals. We do want to know where a child is functioning at any given point in time, so that we can always have appropriate expectations and set children up to be successful. Will my child get married? I don’t know. Autism is a problem with social interactions, so that makes dating and marriage harder to achieve. However, most adolescents and adults with autism want to date at some point, and many have married. This is more likely for children who are high-functioning.

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Getting married is a possibility, but it depends on many things no one yet knows about your child. What if we can’t quit our jobs to be home so that our son can get therapy? The in-home autism programs usually require that one parent is in the home for the whole time the child receives therapy. Because this can be up to 35 hours per week, plus perhaps other therapies, one parent cannot work outside the home. However, every family has different resources. Relatives can sometimes help out. There are daycare centers that are more open to learning about autism and helpful techniques. And sometimes, parents need to do what is best for the whole family, not just the child with autism. Your approval of their decisions can provide a lot of reassurance and support. Almost every parent is doing their very best.

References 1. Divorce among parents of children with autism: dispelling urban legends. Editorial. Autism, Sage Journals. 2013. p. 643–44. https://doi.org/10.1177/1362361313509528. 2. Freedman BH, Kalb LG, Zablotsky B, Stuart EA.  Relationship status among parents of children with autism spectrum disorders: a population-based study. J Autism Dev Disord. 2011;42(4):539–48.

Chapter 10

Connect the Family with Community Resources

After the diagnosis, parents need to know what to do next and need to leave your office with a plan. They need to channel their energies in positive ways that will help their child move forwards. This is a very hard chapter to write, because each of you has a different level of accessibility to autism and disability services. Not only are there state-by-state variations, but there can be dramatic regional differences even within a small geographic area. Even within one school district, some schools provide better services to children with disabilities than others. These can be teacher dependent, administrator dependent, parent dependent, or some combination of these factors. States have programs organized in different fashions. Mental health and developmental disability services may be integrated or completely separate. Some states have great access to intensive behavioral interventions for autism, and others, even neighboring states, do not. Most states have some kind of autism insurance mandate (48/50 at this writing) requiring insurance companies based in their states to cover autism treatment, but that coverage varies widely, and two states do not have any such requirement. In Wisconsin, there are two ways to fund autism treatment: state funds for eligible children and state-based insurance companies. Let me try to give you a broad overview of what is considered best practice for people with developmental disabilities; your patients’ access to this will depend on a number of factors and the age of the person needing services. The services that are covered by federal mandate (0–21 years) are more consistent across the country than any services for adults, so the earlier ages apply to most of you up to the adult years. Let’s look at each important age range, so you will know where to turn for help.

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Box 10.1 [Parent support groups: Parent support groups are organizations of parents helping other parents with a particular challenge, which can be primarily medical (like diabetes) or primarily developmental (like ASD), or some combination (like Down syndrome). If you live in a large enough metropolitan area, there will likely be a parent support group for ASD. They can be a lifeline to parents with a newly diagnosed child, with knowledge of local resources or how to navigate a school system among many other topics. State societies often provide an annual educational meeting for members and raise funds for local events or donations for research. They can also be a way for parents who have strongly held beliefs about why their child has autism to try to convince others that they are right. Both tremendous good and harm can come from these groups. Your patient’s parents should know that they exist, and I think on balance, much more good is done. I generally give new parents a flier from our local and state group. I tell them that some parents find them more helpful than others, which is what parents tell me. Some say that the parent group saved them in desperate times. Others say that they don’t benefit from hearing other peoples’ “complaints” (their word) about medical and educational supports.]

0–3  Birth-to-Three programs are federally mandated but often administered by state and counties with some federal funding. Anyone can refer a child to a 0–3 program, so parent or provider concern can get the child an initial evaluation. The child has to meet the criterion of at least 25% delay in two or more developmental areas. There has been a national shift in these programs from offering more standard developmental therapies (OT, PT, S/L) to a “parent coaching model.” This transition has been uneven and interpreted differently in different counties, even within one state. A parent coaching model can be very desirable. After all, therapists only see children for an hour a week, whereas parents are the ones who best translate those practices into everyday life and have thousands more opportunities to help the child practice than any regular therapist. However, the quality of the teaching varies. Parents have reported to me that a 0–3 therapist comes to their home and just plays with the child, something many of them feel they can do at least as well, probably better. Other parents have told me that if they didn’t ask a question, the therapist would not have told them what to do. Some programs have a sliding fee. Some wait for parents to ask about social skills or other developmental areas. The best parent coaches would see what the child needs, incorporate what the parents need and want, and work with parents for the best outcome for the child. One of the best kinds of autism intervention, the Early Start Denver Model, involves parents from the very beginning and throughout treatment but is beyond the scope of a 0–3 program.

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Children with ASD, who appear higher functioning or have fewer early delays, are easily missed by the 0–3 requirement of 25% delay in two or more areas. Females with ASD and higher function can be missed because they may have some pretend play and may have more typical special interests (e.g., tea parties). Birth-to-Three therapists are not allowed to diagnose children, something outside their scope of practice. However, therapists can still communicate their concerns to whoever reads the document by using related words. If you ever see the words, “the child has mildly atypical social skills,” that should be a red flag that someone is concerned about autism spectrum disorder, whether they have said that to parents or not. There is emerging evidence of the benefit of early intervention for children with social skill delays from 12 months forwards [1]. Some insurance companies cover therapy with occupational therapists and speech and language pathologists, and some will not cover any therapy without a diagnosis of ASD. Private therapists, who know something about treating ASD, can provide tremendous support and training for the parents in these years. Some locations offer an Infant Mental Health Certificate, a program that trains a variety of providers to understand the social-emotional needs of infants and very young children and to teach parents and programs about how to facilitate healthy social-emotional development. These well-trained people are in the best position to notice early atypical social skills and provide helpful approaches. 3–5  Once a child turns 3, the 0–3 program ends, and the child becomes eligible for Early Childhood Programs or ECP. These ECPs are administered by the public school system, so for children in this age, make sure the parent knows to contact the school district. If the child has been in 0–3, there is usually a transition plan put in place, so there is a relatively seamless transition to the schools. Having a record of previous evaluations and response to therapy can be very helpful to the schools. If the child has not been in 0–3, then the schools need to do an initial evaluation, and the child must meet criteria for services. If a child already has an ASD diagnosis, this is a little clearer documentation of need for support, but not a guarantee of special education or state services. ECPs have moved from always being provided in a preschool classroom setting, to sometimes being in a classroom, but may be provided on an “itinerant” basis, in the home or in a daycare or preschool in which the child is already enrolled. I liked the preschool model, which provided practice with being in a classroom and provided opportunities for supported social interactions with other children. Some early childhood classes are integrated with children without disabilities, so there are more typical peer models, but most are for children with special needs only. Parents may opt to try to do both ECP and intensive autism therapy, and some will defer school involvement to concentrate on the early intensive work. There is no right answer.

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Box 10.2 [Respite care is the term used for providing short-term care for an individual with developmental disabilities or other complex healthcare needs. The purpose is to give parents and other caregivers a break from the pressures of providing chronic care. Chronic caregiving takes its toll on parents and a family. It is widely recognized that caregivers must also take care of themselves in order to continue to provide long-term care for their family members in need. Respite care comes in many forms and can be home-based or center-­ based. The cost of respite sometimes comes from state disability agencies, through Medicaid, or private funds. Sometimes parents create cooperatives to provide respite care to each other. In Madison, there is a nonprofit organization called Gio’s Garden, which is totally supported by donations. The cost is free to parents.]

2–6  This is the age when early intensive behavior intervention (EIBI) is typically provided. Know some businesses in your area that provide EIBI to children with ASD and have some information for the family. This does not mean that children, who are younger than this, would not benefit from intervention or that they might even have a diagnosis of ASD. It means that many programs or third-party payers usually do not cover children under two. The programs are authorized to provide up to 35–40 hours per week for up to 3–4 years, with 20 or more hours per week being required to count as “intensive.” It is obviously unrealistic, and not in the best interests of the child, to think that a child under 2 would be able to “work” for 20–40 hours per week with a person other than their parent. There are newer options for very young children that focus on parent training (see section Early Intensive Behavioral Interventions in Chap. 12). The 4-year-old kindergarten or the more traditional kindergarten for 5-year-olds may or may not be required, depending on where you live. Kindergarten is optional in Wisconsin and left to parent discretion. If the child with ASD does not have many social skills to practice, then sometimes it is beneficial to get some social skills training before putting this child in a very socially demanding environment. Some children benefit more from the experience of being in a classroom, where they learn skills that will help them throughout their school career. School-aged  Once a child attends school full time, it becomes very difficult to sustain an intensive program. Children move into a “post-intensive” phase of treatment if they have had 2–4 years of EIBI. If they have never had intensive therapy, they may qualify for “non-intensive” therapy for ASD. There are families, who use evening and weekend time to get their hours in, but this is very disruptive to any kind of family life, and not right for every child or family. The public school often takes over with an Individualized Educational Program (IEP), which outlines educational goals for the child, recommends intervention

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strategies, and describes a way in which the school will implement and measure the child’s progress. This IEP is reviewed annually but can be reopened by a parent at any time, if new skills, new problems, or new information emerges. There are long-­ term and short-term goals. Every 3 years, the child must be reevaluated, to be sure that their educational needs are still being met. Sometimes this reevaluation will lead to a recommendation to discontinue an IEP, because the child is doing so well. Please beware of this recommendation, especially if it occurs in the early grades. See below. Once children are in school, there are more resources that help families get in touch with what they need. School social workers can be very helpful. Local autism parent support groups can also be very helpful to parents seeking information. Check to see if your families feel well-supported or not. Elementary School  ASD is a lifelong condition. Children with ASD in K–2nd grade can do well relying on their sometimes amazing memories for facts and details. They may read as a decoding skill or visual recognition of words but without good comprehension. They may recognize numbers or addition or subtraction facts, without understanding the concept of numbers. They may not develop educational challenges until the material becomes more abstract and conceptual, often in 3rd or 4th grade. The other factor to consider is what I call the “hypertension analogy.” If a hypertensive patient takes medications and lowers their blood pressure, one does not say “well, the blood pressure is fine now, so let’s stop the meds.” That would be ridiculous. With the same thinking, a child with ASD who is doing well with support does NOT need that support discontinued. The support may be modified but rarely should it stop. Social skills, visual strategies, sensory breaks, and pragmatic language ­training (social use of language) are all important parts of educational support for the child with ASD.  Speech and language therapists and occupational therapists should always be involved at some level for the IEP for ASD. Social skills increase in complexity as the child ages, so often more would be better than less. Elementary school is where the best inclusion of students with disabilities and neurotypical children can occur. This is especially true if the teacher values full inclusion and models full inclusion for all of the students. Middle school  Middle school is the hardest period of time for all children but most especially for children with ASD. The emotional job of middle schoolers is to figure out who they are, and they often do this by figuring out who they are not. This leads to social exclusion of children who do not fit in. Bullying may have been a problem in elementary school, but it happens more intensively in middle school, unless a school is very proactive. Visiting a middle school was an eye-opening experience for me. The students are in various stages of physical growth, with clearly prepubertal and very vulnerable-appearing children, who are the same age as the physically mature but emotionally young adolescents. The noise level in the hallways and the seemingly random physical activity between classes can overwhelm a student with ASD.  Some parents have arranged for their child to transition between classes a minute or two early to avoid this situation.

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High school, 14–21  By the time most students reach high school, they have better figured out where they fit in. Bullying still can continue, but the emotional need to exclude seems to improve, as the performers (actors, musicians), athletes, artists, and academics find their niche. Children with ASD may do these things but also have the opportunity to pursue their special interests and skills, in computer clubs, in anime groups, or with gamers (think Dungeons and Dragons). Some participate in geography bees or math contests. Transition plans are developed by the schools starting from about 14 years of age. These plans start to shape the student’s future. Children and important adults start to lay the groundwork for what is most needed in high school and for what comes after. Depending on the skills, interests, and needs of each individual student, one may be preparing for a university career, another pursuing their interests in a tech school, or learning how to live and work in their communities. Children with ASD and ID may spend some of their time in the regular education classes, but others will spend most of their day in special education. They may start to get job training by helping out with different jobs at school, and some students continue to work on daily living skills. Because cognition is not part of an ASD diagnosis, all outcomes are possible. Parent support is key for all children but especially children with developmental disabilities. 18–21  Some children with ASD graduate at 18 with their peers. Some qualify for an additional 3 years of educational support to help with the transition to adulthood. It is important for the student with special needs to participate in graduation with their classmates, even if they do not actually graduate at the same time. On the 22nd birthday, all public educational services end. Each of the above transitions can be accompanied by parental stress. Leaving home-based services, leaving early childhood, moving into full-day school, and leaving elementary, middle, and high school are transitions that can be hard for the student and parents alike. It means leaving familiar people and routines and starting over. Parents may need you the most when they are anticipating these transitions, a concept I learned from Dr. Larry Kaplan, developmental pediatrician. Each step is associated with less and less communication and support between parent and school and fewer opportunities for the parent to control their child’s experiences. Homeschooling  At any point, parents may choose to homeschool their child (see section “School-Aged Issues” in Chap. 17). Adult services  There is probably the most variation in services for adults with ASD and other developmental disabilities. More information is included in the chapter on Transition to Adulthood. State or federal programs for adults generally require a diagnosis of an intellectual disability. A diagnosis of ASD alone does not give access to services after finishing school. Usually, the person with both ASD and ID will qualify for adult services. Some places use what is called a “functional screen” that spells out what a person can and cannot do, rather than one IQ score. There should be a commitment

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to both community-based living and competitive employment, that is, finding jobs in the community that need to be done and are not created to give a person “something to do.” The goals of adult programs are to create a high quality of life within the community, which are also individualized to the needs and desires of the person with developmental disabilities. Post-secondary education  For the teenager who completes high school, either with a traditional or modified curriculum, there are more opportunities for further schooling than ever before. Of course, some people with ASD have completed traditional college curricula and may even have a PhD in a field (think Temple Grandin, the most famous person with autism alive today). It may take much longer than 4 years to achieve this. Some find online universities as a much better match than sitting in a large classroom, with all the attendant social stressors. Statistically, it is unlikely that many children with ASD (or without ASD) will achieve Dr. Grandin’s level of accomplishment. Box 10.3 [Temple Grandin. Temple Grandin is the most famous autistic person, possibly ever. Her very existence gives hope to parents, as she lives independently and has a successful career as an inventor and professor of animal science at Colorado State University. Her ability to write about her experience with autism has given insight to all of us about how a person with autism may look at the world from a very different point of view. Her first book Emergence: Labelled Autistic [2] was revolutionary for those of us in the field. She is committed to the humane treatment of animals meant for slaughter, and because she herself was calmed by tight squeezes or hugs, she devised a way to give that feeling to cattle, who were calmed by her invention. She is also an internationally known autism activist and sought-after speaker.]

There are also colleges that have been developed to meet the needs of individuals with developmental disabilities and/or autism spectrum disorders. These are often very expensive options, but for the student who wants to “go to college” and whose families have the resources to do so, they may attend one of these schools. Some enter trade schools or technical colleges and can match their interests in math, building, electronics, computing, or lab work with an eventual job in mind.

References 1. Landa RJ. Efficacy of early interventions for infants and young children with, and at risk for, autism spectrum disorders. Int Rev Psychiatry. 2nd ed. Taylor & Francis. 2018;30(1):25–39. 2. Grandin T, Scariano M. Emergence: labelled autistic. Novato: Arena Press; 1986.

Chapter 11

Documentation: What You Say Matters

This generation is more aware of language and how words affect people than was mine. People get into serious trouble using the wrong words. Every marginalized group has its own preferences in this regard. People with disabilities are such a population. One of the first language preferences I encountered is called the “People First” movement. That is, “the child with Down syndrome” is preferred over “the Downs child” or the “child with autism” over “the autistic child.” Some self-advocates with autism say they prefer to be called “autistic” first because this is their identity and they are proud of it. When working with children, and you are mostly talking to their parents, however, I would recommend staying with “the child with autism.” The next major word hurdle came around the words “mental retardation” and is why this disability is now called “intellectual disability.” Schools still may use “cognitive disabilities.” They all mean exactly the same thing, that is, “significantly delayed general cognitive ability coexisting with significant delays in adaptive skills.” The issue arose because of the way “retardation” was used as a slur, especially when shortened. The connotation became so negative that eventually all organizations that had the words “mental retardation” in them were all changed to reflect the new terminology. For example, the American Association of Mental Retardation became the AAIDD, the American Association on Intellectual and Developmental Disabilities. The Association for Retarded Citizens only goes by their initials, “Arc,” now. You may or may not generate reports to which parents have access. I think it will probably happen that someday, everything you write will be accessible by electronic medical record. In fact, our system went to “Open Notes” in 2018. Parents appreciate your taking the time to use language that respects their child.

© Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_11

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Story [When I first moved to Madison, WI, in 1979, a neighbor learned what I did and said, “Oh, I just LOVE those little MRs,” of course meaning “children with mental retardation.” Remember that “MR” was the correct term at the time. I had never heard someone use “MR” in that way before and was discomfited but quiet. When the term “cognitive disabilities” came into play perhaps a decade later, a school staff member who was nice enough to come to clinic with my patient said, in almost exactly the same tone of voice, “Oh, I just LOVE those little CD’s.” That was when I realized that no matter what you call it, people can use words in a way that seems demeaning. Our PNP, Susan Heighway, once asked a Native American man what he preferred, Indian or Native American? He answered so wisely, “It doesn’t matter what words you use, what matters is the heart with which you say them.”]

My own preferences: Remember to say something positive about the child and parents. There is so much unwanted news with developmental diagnoses that it is important to remember to say something that is true and positive. “Her smile lit up the room.” “He drew a beautiful picture.” “He was very cooperative with the exam.” I have always asked residents on my rotation to include the following changes in their usual reports: “Parents deny_____”: I know that it means that these questions were asked and received negative replies, but the word “deny” always sounds accusatory to me. I try to use “Parents do not report _____,” which means exactly the same thing but avoids the sense of a bright light in an interrogation room. “He can’t/she won’t”: We generally don’t know whether children can do something or not. What we do know is that in our clinic visit, the child did not do something. Similarly, we don’t really know whether a child could do something and refused (“she won’t”) or whether she was not able to do something we asked. All we know is that “she did not” do something. It seems a small thing, but the latter is the most accurate way to describe what you saw. “Grossly normal”: The word “gross” has a negative connotation in everyday language. We mean that a system we examined did not find any abnormal results but that we didn’t do an exhaustive exam at that time. We could also say, “generally normal” or “normal to quick exam” (sometimes all I get from a child with ASD) or “the neuro exam seemed normal to me.”

Your clinical impressions should include the developmental profile that best fits what you’ve seen and heard. Although it’s harder with an electronic medical record, sometimes we can say “provisional” or “suspected” if we are not sure. I think it is hard to develop a totally appropriate “smart” document for development, but milestones, diagnostic criteria, school status, and even recommendations can all be short answer information or macros. The most important thing is to put down more than “autism spectrum disorder” in your impression section. Please say something about why you think this and something positive about the child and family. Review your checklist from DSM-5. Also make some observations about what the child is saying or doing, so that on the next visit, you can see whether the

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child has changed. Pretend that you are the parent reading a document about your child. Would you be OK with what you are reading? In your report, recommendations should always give parents at least one step they can do next. They need to leave your office with the energy of hope and with the knowledge of how to get help for their child. This can include: 1 . Call the school district for children 3 years and older. 2. Call the county for 0–3 services for children under 3. Some remote places may have one program for several counties, and this may be the services they can get. 0–3 programs are mandated by federal law, so every county or region in the USA should have access to this. 3. If your state has a system of regional centers, staffed by knowledgeable social workers, who keep up on eligibility guidelines for state assistance along with many other ways for parents to get help, you are in the lucky position to only have to give out this information. We are so fortunate in Wisconsin to have this resource. 4. Direct parents to evidence-based treatment services, and ask them to check with their insurance company about coverage for ASD. 5. Calling the local chapter of the Autism Society will lead to parents who have traveled this road before and can help parents of the newly diagnosed children find their way. 6. The website for the organization Autism Speaks has a section called “The First 100 Days,” for parents who have just received an ASD diagnosis for their child. 7. Referrals to developmental therapists. In Wisconsin, speech therapy and OT are covered by certain insurance companies as well as by state-administered programs, if you have an ASD diagnosis. Please connect parents to your local pediatric therapy center.

Part III

Treatment and Intervention

Chapter 12

Evidence-Based Treatments

Early Intensive Behavioral Intervention During my fellowship in the late 1970s, I was taught that “You know a child has autism if you feel a chill go up your spine when you enter the room.” True story. It was also a time when there was no treatment for autism. I lived then in the era of “take him home and love him” and “I’m sorry, there’s nothing we can do.” Special education programs were just being federally mandated (PL94-142, which became the Individuals with Disabilities Education Act or IDEA) in 1975. We only diagnosed the most severely affected children, and if they had anything “neurological,” then we diagnosed “Organic Brain Syndrome,” not autism. I remember when Dr. Ivar Lovaas’ article was published in 1987 [1] describing his findings using what has come to be called Applied Behavior Analysis and Discrete Trial Training. ABA became and is still one of the major types of early intensive behavioral interventions (EIBI). Lovaas assigned 38 children with autism under 3½  years of age, none of whom had profound intellectual impairment, to either the treatment group or a control group. The treatment group received 40 hours per week of 1:1 therapy for at least 2 years. Parents were “extensively trained” so that therapy could occur almost all of the children’s waking hours. The results were astonishing and well into the 1980s not thought possible. Of the 19 intensively treated children, nearly half (9 children) experienced unexpected progress to the point of needing minimal support in early elementary school. They achieved normal intellectual and academic functioning, with successful first grade performance in public schools. Another 40% were mildly impaired and received special education. Ten percent were considered “profoundly retarded.” The control group received 10 hours per week of this therapy plus special education resources. Only 2% of the control group had this good outcome, 45% were “mildly retarded,” and 53% considered “severely retarded.” Our child psychiatrist held the revolutionary paper in her hands and said, “We are not doing enough for children with autism!” © Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_12

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These programs were based on the work of BF Skinner, who developed the idea of reinforcement and extinction of behaviors. That is, through positive and negative consequences, a behavior can be encouraged or discouraged. The autism treatment programs initially were very rigidly controlled, with a child’s behavior eliciting a positive reward or negative consequence. Negative behaviors were at first treated by ignoring, if possible, or with a loud verbal “No!” and a thigh slap, but this was later completely replaced with “extinction” meaning that therapists radically ignore unwanted behaviors and eventually “extinguish” them. Positive or desired behaviors were rewarded with one small candy, if the child responded to commands correctly. Negative behaviors are ignored. Most activities took place at a table top, teaching one specific skill at a time, building each skill towards a particular goal. Many of these programs, referred to as using “Applied Behavioral Analysis” or “ABA,” have evolved to being more responsive to individual children’s needs, with a greater variety of meaningful rewards. The basic philosophy and intensity have remained for this behavioral approach. We were fortunate in Wisconsin to become early adopters of this program through the efforts of child psychologist Dr. Glen Sallows, who went to train with Dr. Lovaas and brought ABA to this state. It worked because he also lobbied the state legislature to provide some state funds to cover the cost of this very expensive program, which was the only evidence-based intervention for children with ASD at that time. Dr. Sallows and colleagues replicated the initial work and found, like the original paper, about half the children treated intensively could become “indistinguishable from their peers” [2]. Not long after Lovaas’ paper was published, we heard about child psychiatrist, Dr. Stanley Greenspan, who was working on a play-based model of intervention for children with autism, which he called “Floortime.” Some families preferred play over the tabletop activities of the Lovaas method. In a much shorter version of a much longer story, models that used play-based strategies proliferated and were combined with other aspects of social and communication training. Another major advance was the development of “Naturalistic Developmental Behavioral Interventions (NDBI),” which provide therapy in the natural environment of the child, and in the social context of the child’s world. NDBI takes learning into daily life. Currently, one of the best studied NDBI programs is the Early Start Denver Model (ESDM), developed by Geraldine Dawson, Sally Rogers, and others [3]. Their 2010 paper reasonably replicated the structure of the original Lovaas study and found roughly the same outcomes, with about half the children treated intensively using ESDM having significant improvements and another large minority of children having more modest improvements. Like traditional ABA, some children did not respond or change significantly after 3 years of intensive therapy. I don’t want you to think these are the only programs. There are many other programs and approaches that use blends of knowledge from speech and language and psychology to work with a child with ASD.  You may hear the terms Functional Communication Training, Pivotal Response Training, Antecedent-Based Interventions, and others. Some strategies gain a foothold in certain areas, d­ epending

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on autism providers in your area, so you may encounter different names. Most will attempt to reach the intensive level (20–40  hours/week) and will either be more ABA focused or NDBI focused. There is also emerging evidence to support very early intervention, especially in high-risk infants, usually meaning the younger siblings of children with diagnosed ASD.  Short 6–12-week programs have resulted in gains, but not as many as the children receiving more intensive interventions [4]. Younger children might receive therapy for 20  hours per week, including parent training, which seems possible when these hours are incorporated into a child’s normal daytime routine. Rationally, as we expand the spectrum to include more mildly affected children, I would anticipate that the improvement rate will increase as well. I see early and intensive intervention as common sense. Is there anyone alive, who, if they spent 35 or 40 hours per week working on their weak areas, would not be better at them after such a training program? I might be able to catch a ball (or anything) if I practiced this much each week! I have long thought that all children with any kind of delay would benefit from this approach; however, I have never seen this tried for children, say with global developmental delays without autism. I can’t think of any reason why they wouldn’t also be better. One of the major increases in the original Lovaas study was in IQ scores. Because of the extraordinary costs involved, I suspect, no one has followed this line of thinking. This helps to explain why the ASD diagnosis is critical. Without it, at least at this time, children do not gain access to intensive therapy. In Wisconsin, coverage still comes, in part, from the state but now also is paid for by some medical insurance payers. Almost all states (48/50 at this writing) now have some sort of autism insurance mandate, but specific coverage varies widely. For the children who do not improve, I see them as having a biologic problem so big that no amount of therapy would change the outcome. Most of these children have a co-occurring, more severe, intellectual disability. Therapy providers tell me that they cannot tell at the start of a program which children will respond and which will not, meaning that all children with ASD deserve access to this therapy. Parents may ask about the following terms: ABA or Applied Behavioral Analysis  is the process of applying behavioral principles to change specific behaviors and simultaneously evaluating the effectiveness of the intervention (multiple sources). This needs to be provided under the supervision of a trained behavioral psychologist or behavior analyst. The hands-on work is often provided by nonprofessional level staff, who have received training in the techniques. Discrete Trial Training (DTT)  is a technique in behavioral learning theory and applied behavioral analysis. It is sometimes referred to as Lovaas therapy. It uses strategies that include errorless learning, behavior shaping, modeling, prompting, correction, and positive reinforcement. Naturalistic Developmental Behavioral Intervention (NDBI)  “These are early intervention programs that are integrated into the natural environment of the child

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and not only use principles of ABA but also developmental science” (McCary L, personal communication). Both the Early Start Denver Model and the JASPER program (see below) are examples of NDBI’s. If programs are provided at a certain level, sometimes defined as more than 20 hours per week, they can be considered “intensive” interventions by third party payers. Early Start Denver Model  The ESDM is an intensive program that involves parents as an integral part of the therapy. It combines a focus on social relationships with ABA techniques and structures with more parent training than many programs. It is designed for children 1–4 years of age and is the only evidence-based therapy that has been validated for children as young as 18 months. Augmentative and Alternative Communication (AAC)  Specially trained speech and language pathologists and occupational therapists work together to find a best mode of communication for the communication-impaired child (nonverbal and minimally verbal). The strategies can be low-tech, such as using a picture communication system on cardboard, to high-tech, electronic devices and programs, and very high-tech, such as eye-gaze systems with speech-generating devices. Some centers also work with adults, who have or are about to lose communication, such as in amyotrophic lateral sclerosis. JASPER Programs  This acronym stands for “Joint Attention, Symbolic play, Engagement and Regulation,” a targeted social communication intervention for preschoolers and toddlers. Kasari et al. [5] reported gains in joint attention and symbolic play when these two skills were directly targeted in the therapy, something previously thought too hard to do and to measure effects.

Treatment for Older Children There is no “EIBI” for older children with ASD. Once children are in school full time, there are fewer opportunities to provide anything remotely intensive, unless parents have the resources or opportunity to place their child in a school run by intensive autism providers. (We have one such in Madison, but few children have access to this.) The main focus of intervention in ASD has targeted the young and very young. There is less systematic research on interventions for older children and adolescents. What there is tends to be directed to solving specific problems that arise in older children, such as anxiety, loneliness, sensory issues, specific behaviors, receptive language delays, and other topics. Most studies published show positive results, but remember that negative studies may not get reported or may not be published, which is true in many areas of research. This makes it harder to evaluate the evidence in this field. Children’s needs change over time, and individual children and their families develop their own strengths and weaknesses and seek specialized help when needed.

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You will find some topics covered under the Chap. 15. This section will review selected research on the evidence basis for types of therapies for older children. This is not intended to be a review, but a discussion of the more commonly used interventions in this population. Cognitive Behavior Therapy (CBT) Most primary care providers will have run into CBT if they have typically developing children or adults in their practice with symptoms of anxiety, where there is general acceptance of this approach. Anxiety probably affects all people with ASD to some degree, but about 40% receive a co-occurring diagnosis of an anxiety disorder. There is an emerging body of literature on using CBT in higher-functioning people with ASD to treat symptoms of anxiety. CBT is based on working with a mental health professional to focus on self-­ management skills to help the verbal and higher-functioning children learn to regulate their own behaviors. CBT is described as structured psychotherapy directed towards solving specific problems and teaching individuals to modify unhelpful thinking and behavior [6]. While most literature supports the evidence base for CBT, occasional articles dispute its validity or the specificity of this type of therapy. Murphy and colleagues [7] compared CBT to standard counseling and found the same magnitude of improvement in both treated groups. Work has been done to see what skills a child with ASD needs to have in order to benefit from CBT [8]. Children with ASD between 7 and 12 years of age were compared to a similar population of typically developing children matched for IQ and performed CBT tasks in a similar way. Older children did better, as they obtained the mental skills needed to recognize emotions, thoughts, and behaviors. CBT is usually modified for people with ASD, to use their strengths and avoid weaknesses. The types of modifications include: 1 . Use of visual strategies 2. ABA strategies 3. Increased parental involvement 4. Using the person’s special interests [9] Maddox, Miyazaki, and White (2017) studied the “Long-Term Effects of CBT on Social Impairment in Adolescents with ASD” [9]. Although the number of participants who completed the treatment and follow-up was small (25 for treatment and “fewer” completing all of the follow-up), for the ones that did there was a long-­ lasting impact on ASD-related social impairment. The more severely socially anxious children made the most gains but, once the therapy ended, did not always sustain the magnitude of those gains. This makes sense, considering the fact that children with ASD tend to be literal and specific, and by the time of the follow-up, a completely new way to be anxious or new situation in which to be anxious has arisen. PEERS (Program for the Education and Enrichment of Relational Skills)  This therapy is provided in a group for both teens with ASD and their parents. The goal is improving friendship skills, and the results are positive and sustainable [10] and

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comparable to those treated with CBT directed at social impairment [9]. A co-author on the Laugeson article is Fred Frankel, who wrote one of my favorite books about childhood friendships, Friends Forever: How Parents Can Help Their Kids Make and Keep Good Friends, a great resource for all parents [11]. Speech and language therapy  Ebbels and colleagues treated 72 students aged 9–17 years with developmental language disorders, including those who also had ASD with speech and language therapy either 1:1 or 2 students to 1 therapist. The length of the intervention was one semester. Selected goals were compared to control goals but in the same student. They were able to measure significant improvement on targeted goals compared to the control goals for students with developmental language disorders whether or not they also had ASD [12].

 he Role of Medications in ASD: Evidence-Based, Commonly T Used and Emerging As of this writing, there are no medications that treat the core symptoms of autism, although there may be some emerging ones. Currently, medications are used to treat the following symptom categories: 1. 2. 3. 4. 5. 6.

Irritability/aggressiveness Hyperactivity Inattention Poor sleep Anxiety Appetite modification

This section will start with evidence-based medications, move to plausible medications in common use, and end with an emerging class of medications. Story The “I don’t believe in medications for my child” can become pathologically problematic. I followed a boy with ASD for a while, whose parent would not consider meds. I am mostly fine with that, as you will see, so long as behavioral challenges are appropriately addressed. However, when they came back to clinic years later, when the child was now a teen, the dad said he was ready to discuss medications, if he knew all the complications. Parents described symptoms that a medical student could have diagnosed as bipolar disorder. The dad came to clinic thinking maybe a stimulant trial would be OK and left knowing that he had to find a psychiatrist urgently and use medications that did not have as clean a side effect profile as Ritalin. As primary care providers, you can lay the groundwork for appropriate medication use much more effectively over time and possibly avoid situations like this.

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Evidence-Based Medications The very first medication with demonstrated effectiveness in autism was haloperidol (Haldol). In a very old study, Magda Campbell [13] showed a significant response rate to this medication compared to placebo. Antipsychotics were first used in autism because of the thought that autism was related to schizophrenia. I remember learning that one of the cardinal features of schizophrenia was “autism,” or self-containment. It seemed logical at the time to use antipsychotics, and the response rate was high. The major downside of haloperidol was the 13% risk of tardive dyskinesia with chronic use. Irritability The first modern atypical, now called second generation, antipsychotic medication shown to be more effective than placebo was risperidone (Risperdal), reported for use in autism in 2002 to treat irritability [14] and was FDA approved for use in autism in 2006 to treat irritability. I have used a fair amount of risperidone to treat underlying irritability and frequent distress in ASD. Most children have had a positive response; however the side effect profile can be unacceptable. The most concerning possible side effect is neuroleptic malignant syndrome. Neuroleptic malignant syndrome (NMS) symptoms include fever, diaphoresis, dysphagia, tremor, incontinence, changes in level of consciousness, mutism, tachycardia, and alterations in blood pressure, and findings include leukocytosis and diagnostically, an elevated CPK, indicating muscle injury. Some or all of those symptoms can occur. DSM-5 found rates of 0.01–0.02% of patients taking antipsychotics (DMS-5) [15]. Even though rare, this is a medical emergency, and patients should be sent to an emergency department for evaluation, should they develop signs of muscle rigidity and fever. If recognized, the symptoms resolve with withdrawal from the medication and supportive treatment. With chronic use, tardive dyskinesia can occur and sometimes is irreversible, but again, very unlikely. I have not ever seen this occur in children or adolescents with ASD, but it is reported. I had one child develop a new onset of tics, which subsided when the medication was discontinued. Tremendous weight gain can occur and is very common, putting children at risk for insulin resistance and, with obesity, further opportunities for social shunning. Weight needs to be monitored throughout treatment. The other medication shown to have effectiveness for irritability is aripiprazole (Abilify), but it also has the same side effect profile. This was FDA approved for treatment in autism in 2009 [16]. Some children do well with one of these two medications, but for those with persistent and serious behavioral challenges that may involve other mental health diagnoses such as anxiety, depression, and OCD, you may need child psychiatry consultation, if not prolonged management. A good general reference is Mark Riddle’s Pediatric Psychopharmacology For Primary Care, published by the American Academy of Pediatrics [17]. All medications should be used in conjunction with ongoing behavioral strategies and support. (See Chap. 16 for more diagnostic and management strategies.)

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Box 12.1 [You may wonder why parents agree to give these medications to their children, as even rare complications do occur. You may wonder why practitioners would prescribe these medications. The motivation on both sides is to relieve the suffering of the child. When you have experienced the destructive force of this degree of irritability on parents, the child, and the family, it can be worth the risk.]

Hyperactivity  Some children with ASD can be hyperactive and impulsive and may qualify for a second diagnosis of ADHD, hyperactive and/or impulsive subtype. Even if they don’t get an ADHD diagnosis, the same medications that can help with these symptoms in that population may help the child with ASD. The response rate is lower than the oft-quoted “70–90%” response rate to stimulants in ADHD. I often start medication trials with stimulants because of their short half-life and ability to judge effectiveness in a relatively short time. Sometimes parents do not understand that this is a trial period, that when you write a prescription you are not asking the child to be on this forever. A description of the process for using psychotropic meds should be given to the parent. I warn them of the high placebo effect in autism. I prefer that parents use the school as the only blinded observer. A very positive response is often followed by a call from school asking the parent: “Did something new happen?” Other ADHD meds have sufficient evidence to recommend to help children with ASD, including atomoxetine and alpha agonists (clonidine and guanfacine) [18]. The atomoxetine effects are moderate, and it works better if parent training is included [19]. Inattention  Many factors cause inattention in autism spectrum disorders (Fig. 12.1). While hyperfocusing can be seen in preschoolers, the concern about inattention often arises in elementary school. To a teacher, an inattentive child looks the same regardless of the cause. In autism, one must consider the following factors: • Decreased attention to verbal language • Diminished understanding of social roles, such as between teacher and student, and the need for the student to pay attention to the teacher • Preference for own thoughts or interests • Lack of understanding of others’ needs, like those of classmates • Anxiety • Sensory issues • OCD tendencies to get stuck on thoughts • Lack of understanding of incoming verbal language • Lack of knowledge of appropriate responses • Distracted by something of interest • Executive function and challenges with paying attention

The Role of Medications in ASD: Evidence-Based, Commonly Used and Emerging Fig. 12.1  Factors that influence ability to pay attention in ASD

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Anxiety Sensory issues

Social demands

Receptive language Social knowledge

Complex material

Interest Level Working memory

It is critical to figure out which factors above may be functioning in this child, and which things can be modified by treatment. The same ADHD meds used above can be used to target inattention. Poor sleep  Poor sleep, both difficulty in falling and staying asleep, is a very prevalent problem for children with autism, 40–80% [20], with highest prevalence in the 2–5-year-old range (57%) [21]. This is thought to be due to many factors, both biologic (melatonin production) and environmental (sleep hygiene, parenting, anxiety). The first line of treatment is behavioral and more can be found under primary care 0–5. Some children do not respond or do not respond sufficiently to changes in the environment and expectations and need some pharmacologic support in addition. The most commonly used substance to help with falling asleep is melatonin. Start low and go slightly faster than you might with an actual medication. Although I have seen doses used up to 10 mg in the literature, I start with 1 mg and would go up to 5 mg. After that, I didn’t think more would help. Parents like that this is a supplement, not a prescription medication. Other medications have been used but are “off-label”: clonidine, hydroxyzine, trazadone, and “azepam” related drugs, although chronic use especially for the latter is not encouraged. Frequent waking  Some children with ASD do not stay asleep longer than 2–4 hours. They often wake up, go find their parents, and either a parent goes back to the child’s room or the child sleeps with parents. I think that modifying the adult response to the child is one big factor in addressing this issue. If parents are clear, calm, and consistent and always redirect the child back to bed, then this problem can often be overcome, especially early in the cycle. Sometimes this is not humanly possible, and the priority should be that everyone in the family gets enough sleep at night. Melatonin may help with awakenings as well as sleep onset. Rossignol and Frye reviewed the available studies and concluded that “the administration of exogenous melatonin for abnormal sleep parameters in ASD is evidence-based” [22].

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Anxiety  Anxiety is an almost pervasive co-occurring condition in autism. Almost every aspect of autistic symptomatology is aggravated by anxiety, whether diagnosed separately from ASD or not. (Discussed in several other locations.) Although anxiolytics and SSRIs are used in ASD, there are no randomized, controlled trials of medications targeting anxiety or depression as a primary outcome in ASD [23]. Appetite: Too much or too little  Lack of hunger or lack of satiety can affect children with ASD and are both a management challenge. Although stimulants should serve as an appetite suppressant, they rarely prevent obesity if other factors such as a child’s dietary rules are in place. On occasion, a child with ASD can be so rigid and persistent about eating that an eating disorder can emerge. Metformin has been used in ASD to treat complications of medically induced weight gain [24]. Emerging meds  Everyone would like to find better medications than the ones we have to work with. There are many, many trials with decent theories to think different types of medications might be effective. If you read any of these, remember that we are always optimistic and sometimes see what we want to see. This leads to the necessity for randomized controlled studies with clear results before considering using any of the following, or any new up-and-comers. When medications are subjected to this kind of rigor, there is often little difference between drug and placebo, or there are small significant differences on one symptom or another. Read with a critical eye. Open-label studies should never lead to implementation of therapy. The limitations of treatment trials in autism are nicely reviewed by Farmer, Thurm, and Grant [25]. Although there are no clear “winners” in this group, I thought I would include some so you could get an idea about what researchers are thinking about. Acamprosate (Campral) used to treat alcohol withdrawal has been tried in ASD to potentially target social communication by balancing excitation/inhibition (E:I) in the CNS. Thought to affect NMDA inhibition, mGluR5 antagonism, and GABA agonism [26], but there are no RCTs as yet [18]. Arbaclofen (R enantiomer of baclofen, which is used to treat spasticity) is a GABAb agonist, which showed some positive effects on the socialization section of the Vineland and a standardized clinician measure, but not on the primary outcome measure. Further studies are underway [27]. Pregnenolone, a nonsteroidal modifier of GABA, has shown some promising effects on socialization but only in an open-label study, which is close to no value in ASD [28]. Folinic acid has survived a randomized double-blind placebo-controlled trial and verbal communication improved in the treatment group, especially if the children had a folate receptor autoantibody (FRAA) positive status [29]. The neuropeptides oxytocin (OT) and arginine vasopressin (AVP) have long been implicated in social behaviors, including maternal bonding and other “affiliative” behaviors. Although research is complicated by animal vs human biology, whether samples are taken in plasma, CSF or brain, and apparent differences in females and males, people have long speculated about the possibility of improving

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social abilities using these neuropeptides in autism [30]. In 2010, Ring et al. published information about a non-peptide oxytocin receptor agonist [31], and in 2018, Roche announced the first clinical, blinded, placebo controlled, human trials of “Balovaptan,” another oxytocin receptor agonist. This could be the first medication purported to effectively address the core symptoms of autism, social and communicative behaviors. We await further (controlled) trial results eagerly. A review of pharmacotherapy in ASD from 2018 concludes “Overall, the evidence is limited for pharmacotherapy in children with ASD, and side-effects with long-term use can be burdensome” [32]. So while medications are used to modify symptoms in ASD, there are reasons to focus on behavioral strategies.

References 1. Lovaas OI. Behavioral treatment and normal educational and intellectual functioning in young autistic children. J Consult Clin Psychol. 1987;55(1):3–9. 2. Sallows GO, Graupner TD. Intensive behavioral treatment for children with autism: four-year outcome and predictors. Am J Ment Retard. 2005;110(6):417–38. 3. Dawson G, Rogers S, Munson J, Smith M, Winter J, Greenson J, et al. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics. 2010;125(1):e17–23. 4. Landa RJ. Efficacy of early interventions for infants and young children with, and at risk for, autism spectrum disorders. Int Rev Psychiatry. 2nd ed. 2018;30(1):25–39. 5. Kasari C, Freeman S, Paparella T. Joint attention and symbolic play in young children with autism: a randomized controlled intervention study. J Child Psychol Psychiatry. Wiley/ Blackwell (10.1111). 2006;47(6):611–20. 6. Beck A. Institute for Cognitive Behavior Therapy [Internet]. Date accessed 1/24/19. Available from: http://beckinstitute.org. 7. Murphy SM, Chowdhury U, White SW, Reynolds L, Donald L, Gahan H, et  al. Cognitive behaviour therapy versus a counselling intervention for anxiety in young people with high-­ functioning autism spectrum disorders: a pilot randomised controlled trial. J Autism Dev Disord. 2017;47(11):3446–57. 8. Lickel A, MacLean WE, Blakeley-Smith A, Hepburn S. Assessment of the prerequisite skills for cognitive behavioral therapy in children with and without autism spectrum disorders. J Autism Dev Disord. 2012;42(6):992–1000. 9. Maddox BB, Miyazaki Y, White SW. Long-term effects of CBT on social impairment in adolescents with ASD. J Autism Dev Disord. 5 ed. 2017;47(12):3872–82. 10. Laugeson EA, Frankel F, Mogil C, Dillon AR.  Parent-assisted social skills training to improve friendships in teens with autism spectrum disorders. J Autism Dev Disord. 2nd ed. 2008;39(4):596–606. 11. Frankel F. Friends forever: how parents can help their children make and keep good friends. San Francisco: Jossey-Bass; 2010, 299 p. 12. Ebbels SH, Wright L, Brockbank S, Godfrey C, Harris C, Leniston H, et al. Effectiveness of 1:1 speech and language therapy for older children with (developmental) language disorder. Int J Lang Commun Disord. 2017;52(4):528–39. 13. Campbell M, Anderson LT, Meier M, American ICJOT.  A comparison of haloperidol and behavior therapy and their interaction in autistic children. 1978. http://www.jaacap.com/. 14. McCracken JT, McGough J, Shah B, Cronin P, Hong D, Aman MG, et  al. Risperidone in children with autism and serious behavioral problems. N Engl J Med. Massachusetts Medical Society. 2002;347(5):314–21.

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15. American Psychiatric Association. Diagnostic and statistical manual of mental disorders (DSM-5®). Arlington: American Psychiatric Publishing; 2013, 1 p. 16. Owen R, Sikich L, Marcus RN, Corey-Lisle P, Manos G, McQuade RD, et al. Aripiprazole in the treatment of irritability in children and adolescents with autistic disorder. Pediatrics. American Academy of Pediatrics. 2009;124(6):1533–40. 17. Riddle MA.  Pediatric psychopharmacology for primary care. Elk Grove Village: American Academy of Pediatrics; 2016, 210 p. 18. Anagnostou E.  Clinical trials in autism spectrum disorder: evidence, challenges and future directions. Curr Opin Neurol. 2018;31(2):119–25. 19. Smith T, Aman MG, Arnold LE, Silverman LB, Lecavalier L, Hollway J, et al. Atomoxetine and parent training for children with autism and attention-deficit/hyperactivity disorder: a 24-week extension study. J Am Acad Child Adolesc Psychiatry. Elsevier. 2016;55(10):868– 876.e2. 20. Cortesi F, Giannotti F, Ivanenko A, Johnson K. Sleep in children with autistic spectrum disorder. Sleep Med. 2010;11(7):659–64. 21. Krakowiak P, Goodlin-Jones B, Hertz-Picciotto I, Croen LA, Hansen RL. Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study. J Sleep Res. Wiley/Blackwell (10.1111). 2008;17(2):197–206. 22. Rossignol DA, Frye RE.  Melatonin in autism spectrum disorders. Curr Clin Pharmacol. 2014;9(4):326. 23. Vasa RA, Mazurek MO, Mahajan R, Bennett AE, Bernal MP, Nozzolillo AA, et al. Assessment and treatment of anxiety in youth with autism spectrum disorders. Am Acad Pediatr. 2016;137:S115–23. 24. Anagnostou E, Aman MG, Handen BL, Sanders KB, Shui A, Hollway JA, et al. Metformin for treatment of overweight induced by atypical antipsychotic medication in young people with autism spectrum disorder: a randomized clinical trial. JAMA Psychiatry. American Medical Association. 2016;73(9):928–37. 25. Farmer C, Thurm A, Grant P.  Pharmacotherapy for the core symptoms in autistic disorder: current status of the research. Drugs. 4 ed. Springer International Publishing AG. 2013;73(4):303–14. 26. Erickson CA, Early M, Stigler KA, Wink LK, Mullett JE, McDougle CJ.  An open-label naturalistic pilot study of acamprosate in youth with autistic disorder. J Child Adolesc Psychopharmacol. Mary Ann Liebert, Inc. New Rochelle, NY. 2011;21(6):565–9. 27. Veenstra-VanderWeele J, Cook EH, King BH, Zarevics P, Cherubini M, Walton-Bowen K, et  al. Arbaclofen in children and adolescents with autism spectrum disorder: a randomized, controlled, phase 2 trial. Neuropsychopharmacology. Nature Publishing Group. 2017;42(7):1390–8. 28. Fung LK, Libove RA, Phillips J, Haddad F, Hardan AY. Brief report: an open-label study of the neurosteroid pregnenolone in adults with autism spectrum disorder. J Autism Dev Disord. 4 ed. Springer US. 2014;44(11):2971–7. 29. Frye RE, Slattery J, Delhey L, et al. Folinic acid improves verbal communication in children with autism and language impairment: a randomized double-blind placebo-controlled trial. Mol Psychiatry. 2018;23(2):247–56. 30. Cataldo I, Azhari A, Esposito G. A review of oxytocin and arginine-vasopressin receptors and their modulation of autism spectrum disorder. Front Mol Neurosci. 2018;11:27. 31. Ring RH, Schechter LE, Leonard SK, Dwyer JM, Platt BJ, Graf R, et al. Receptor and behavioral pharmacology of WAY-267464, a non-peptide oxytocin receptor agonist. Neuropharmacology. Pergamon. 2010;58(1):69–77. 32. Goel R, Hong JS, Findling RL, Ji NY.  An update on pharmacotherapy of autism spectrum disorder in children and adolescents. Int Rev Psychiatry. Taylor & Francis. 2018;30(1):78–95.

Chapter 13

Alternative Interventions and the Placebo Effect

“Yet how can one be sure one has done all one can?” – Clara Claiborne Park, The Siege (1967)

Every parent needs to be able to say to themselves: “I did everything I could for my child.” This often drives parents to seek out unconventional therapies. They can’t wait for the evidence to be published in a peer-reviewed journal. Our job as physicians and child advocates is to direct parents to the most effective therapies available at any given time. Every family has a finite pot of resources, including time, energy, and money. I want them to get the most return for their investment, and therefore I direct them to evidence-based therapy and away from so-called “complementary and alternative” interventions, especially the ones that have the potential for harm (not immunizing, chelating for mercury, or using the chemical castrating agent Lupron—yes, it’s been done). I think I understand what motivates parents to look for anything and everything that might help. As a parent, I did do everything I could to help my children. A father once told me he used herbal remedies for his child with autism. When I questioned the value of this approach, he told me that he was self-employed and had no health insurance. He used herbal remedies because he needed to feel that he was doing everything he could do, and that was what he could afford. My understanding grew from that and many other similar encounters. But we need to help parents use their resources wisely. I am a strong supporter of Paul Offit, M.D., who is a parent of a child with ASD and a subspecialist in pediatric infectious diseases. He is now director of the Vaccine Education Center at Children’s Hospital of Philadelphia. He wrote an early challenge to the anti-immunization movement in his book, Autism’s False Prophets: Bad Science, Risky Medicine, and the Search for a Cure [1]. He could not do a book tour because of death threats he received. I believe that the reason he received them is related to challenging a belief that is as strongly held as a belief in God. Once you become a true-believer [2] you become immune to facts or evidence. No one needs evidence to support or deny their belief in a supreme being. People believe or they © Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_13

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don’t. For people who believe that their child was harmed by immunizations, they cannot be swayed by evidence. This fight between what parents want for their children with ASD and what we know is effective or ineffective was the first time in my professional life when being a parent advocate came into conflict with being a child advocate. As a pediatrician, I am a child advocate first and a parent advocate second. Our duty as physicians is to first do no harm, and being parent and family centered does not always mean agreeing with parents. I believe that parents, believing they were doing good, were harming their children and that those who do not immunize are still causing harm. For me, the peak of this activity in my practice was around 2004–2007. I saw children who were on special diets, had gotten chelation therapy, stuck in hyperbaric oxygen therapy chambers, AND were getting 35-hour intensive intervention in their homes every week. I started to see an emerging clinical pattern, which I have not seen described anywhere else. These children were very thin, with sallow complexions. They appeared fatigued, almost listless. They did not appear “well.” I only saw this in the children of parents that embraced these more extreme alternatives.

Story [A mother of one of my patients called and asked me if her mother should take out a $25,000 loan on her house to pay for hyperbaric oxygen therapy for her grandson. That was the amount the family was told a full course of hyperbaric oxygen would cost at the time. As strongly as I could, I discouraged this action. Because there were siblings in the family, who had already given up much for their brother, I asked if the family could take a trip to Disney World to create happy memories for everyone in the family, at significantly less cost.] Generally speaking, children with ASD are healthy and healthy appearing. They grow well or even high on the charts. This is part of why it’s hard to see it in the office. My patients are usually physically well. Autism does not make children “sick.” One also has to remember that the natural course of autism is improvement over time. If parents see improvement, this may have occurred without intervention. Also, parents rarely do one thing at a time and usually have their children enrolled in the only evidence-based therapy, such as early intensive behavioral programs. It can be helpful if you reassure parents that they ARE doing everything possible for their children.

The Placebo Effect Our brains are not computers with logical subroutines. Logical thinking is hard work, and what we think and what we remember is subject to powerful forces like hope, belief, fears, and dreams. We often see what we want to see. In the situation

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of autism, parental hope is so strong that parents report improvement as often with placebo as with a treatment. We learned this most clearly in autism during the time that secretin was hoped to be the new treatment (1999–2000s). Secretin is a hormone, which stimulates pancreatic secretion and is used during GI procedures. A few parents felt that their children with autism were better after the procedure, and a small case series was reported. Interest in the autism community exploded on the Internet. Double-blind, placebo-controlled studies, such as the study by Coplan et al. [3] and Owley et al. [4], failed to show any benefit above placebo. In one, the placebo response was even greater than drug. Despite these results, not only did parents in the study believe that secretin could have some positive benefit but still asked for this drug for their children. The intense hope to find something that will resolve the symptoms of autism is a power beyond rational thinking [5]. When you read treatment of autism studies, beware of those open-label studies that only use parent report as the measure of effectiveness. Results with 30–40% improvement are meaningless in this setting. A very interesting study from Lancet in 2008 discovered that the placebo effect extended to caregivers of adults with developmental disabilities. Eighty-six nonpsychotic patients with developmental disabilities and aggressive, challenging behavior were randomly assigned and given either risperidone, haloperidol, or placebo, and their adult caretakers were asked about change in aggression 4  weeks later. Aggression decreased substantially in all three groups, with the placebo group showing the greatest change [6]. This study showed that even non-­parent adults hope for the best for their clients. This study confirmed my belief in the magnitude of the placebo effect. When we acknowledge the power of hope, we can understand why people value treatments that include only a molecule of the active substance in a vial of water. While there are many possible explanations of the placebo effect, in this area, I believe that parents and even non-related caregivers see what they want or expect to see. I suspect that the positive behaviors exist prior to a trial of anything. Parents are focused on the negative ones because they are the most disruptive. When a treatment is started, people start to focus on the behaviors they want and see them more often. It is a little bit like learning a new word you have never heard before. All of a sudden, you see that word everywhere. It’s always been there, but you didn’t see it.

Plausible Versus Implausible There are two other categories of interventions, plausible and implausible, besides the evidence-based ones covered in Chap. 12 (“Evidence-Based Treatment”). I call them “plausible interventions” because they may not have great evidence to support them, but they are compatible with what we know about autism, brain development, and healthy child development. “Implausible interventions” are those that are not even theoretically useful, based on what we know today.

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Plausible Interventions I inform parents that if there was any plausible reason that hyperbaric oxygen therapy would help children with ASD, I would have asked the hospital to purchase one, and then I would be making money for my practice, rather than being of lesser commercial value. Sometimes, if parents can think of the profit motive, and that if a treatment were both effective and expensive, that standard medicine would adopt it readily, make money, and would not be resistant to implementing it. Developmental therapies  It is very hard to prove that developmental therapies are “effective” in an evidence-based way. Having worked with speech and language pathologists, occupational therapists, and physical therapists throughout my career, I can state confidently that these professionals help children be their best and help parents help their children to the best of their abilities. They have thousands of ideas to address parental concerns regarding every day function both at home and at school. Most children with ASD do not need physical therapy, but some do, and those with motor delays, developmental coordination disorder or hypotonia would benefit from this intervention. Occupational therapists address self-help skills and fine motor function. In the last 30 years or so, they became interested in the sensory symptoms of the child with autism. They began to try to treat these symptoms as the symptoms caused children significant distress. They began to treat children for “sensory integration dysfunction.” They are the only discipline really interested in trying to modify sensory inputs or the child’s reaction to them. Standard medicine has been reluctant to refer to pediatric OTs for sensory issues, but I can tell you that pediatric OTs have so many practical ideas that help parents get through a day, that we should overcome this reluctance. DSM-5 included sensory differences as a diagnostic criterion for ASD. It is at least better known now that children with ASD react differently to incoming experiences compared to typically developing children. There is some evidence to support the therapy, but not at a level I or II, the strongest evidence categories. Regardless, most specialists in the autism field see both OTs and speech and language therapists as important partners in a child’s treatment team. I have argued with insurance companies that it is, at the very least, the standard of care for children with ASD. Our state’s autism insurance mandate covers OT and S/L therapy once a child has this diagnosis. Animal therapies  Anyone who has ever owned a dog knows that there can be an emotional benefit to having an animal that loves you unconditionally and is overjoyed to see you when you come home. This can be true for children with ASD as well. The family pet with the right temperament (a “good dog”) can help children with ASD connect to another being, without any expectations from the animal. Some children sleep much better at night with a dog and no longer need their parents to be there. This is quite different than having a therapy dog especially trained and very expensive. The evidence does not exist supporting the benefit of a therapy dog for children with ASD, and there have been cases of extreme stress in the animals because of the unpredictable nature of the behaviors of some children with ASD.

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Therapeutic riding  Therapeutic riding is a type of animal-based therapy, where children with ASD can learn to be on a horse, that is carefully controlled by handlers, who are also trained in childhood disabilities. Some children will find great pleasure in this activity. Others can overcome fears. The most plausible reason for me is for children with hypotonia and core weakness. Developing the strength to balance on a horse uses core muscles and can give a child confidence in this kind of movement. You may have heard the word “hippotherapy” which refers to horse-based therapy that is designed for children with physical disabilities.

Complementary and Alternative Therapies for Autism For me, these are the “implausible” therapies that are not based on, or usually even wildly related to, what we know about child development and brain development. They include anything that does not have evidence to support it in the medical or psychologic literature. Some parent support groups list these CAM therapies in their resource guides, based on the principle that if any parent reports significant benefit from a therapy, they will include it in their handouts. This allows the purveyors of unconventional therapies a forum for their unsubstantiated ideas. They buy booths at autism conventions and look the same in that sales room as providers of evidence-based interventions. Vitamin supplements  There are businesses that test children’s urine and based on what they find, come up with a set of (not free) vitamins and supplements that supposedly match the child’s needs. They may do conventional tests for metabolic disease like urine or plasma amino acids and urine organic acids. The problem is that they do not correctly interpret their findings. One of our biochemical geneticists, who treats children with inborn errors of metabolism, has looked at many of these reports and does not come to the same conclusion regarding what he sees as variations within normal limits. These practitioners often show parents complex metabolic pathways and point to places on the chart that they associate with neurotransmitters in the brain. They do not seem to know how hard it is to get neurotransmitters from CSF (which they do not take) and how hard it is to really get normal controls, as no healthy child gets a spinal tap to provide control values. In the end, these are people taking advantage of desperate parents, whether they believe in what they are doing or not. Story [I cared for autistic twins, who had very smart and skeptical parents. They attended one of these practitioners, and the results of the boys’ urine led to a cart full of (not inexpensive) vitamins and supplements based on the analyses. Parents followed the advice for 6 months, but when they received the request for follow-up urine samples, they submitted one twin’s urine along with a specimen that came from dad. The results on the dad’s urine were very abnormal, and parents were advised to modify and increase the vitamins they were giving. Parents got it and discontinued contact (and supplements).]

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Gluten-Free/Casein-Free Diets (GF/CF) Many parents in my practice have put their children on gluten-free and casein-free diets. There is no evidence that the “GF/CF” diets help children with ASD in any significant way [7], but many parents feel that they have seen improvements and do not want to stop. I have at least one reason why diets may appear to work but still have no biologic function. It involves a story: Gerry was 2 years old and her parents told me that “she will not eat anything but McDonald’s French fries.” She refused all other foods except things to drink. Her only solid food was this specific brand of French fries. When parents switched to a GF/CF diet, Gerry started to do better. She was less agitated and started to try unfamiliar foods, which they attributed to the diet. When families switch to a GF/CF diet, they often put the whole family on it. It is too hard to have foods in the house that the child likes but can’t have. If all the foods in the house meet the needs of the diet, it is simpler to shop and cook. It is not cheap. I have had parents who experimented with this for 3–6 months, found no significant change, and went back to a regular diet. They had to prove to themselves that they tried a very popular treatment. I believe that this diet “works” for many families because of a shift in the locus of control in the house. Gerry was not driving to McDonald’s, but she was in total control of her eating. When parents switched to the GF/CF diet, they once again had the control over the child’s choices. The control switched back to parents, where it needed to be. Once parents were in control of food, they saw improvements in other areas as well. This is not unexpected in any child whose parents become effective limit setters. While there are children with celiac disease and could be “gluten-sensitive” children, who could feel better without this substance, there is no credible evidence that gluten causes autism. The strongest argument for this is that the brain changes seen in children with ASD can be dated to the 2nd or 3rd trimester, and there is reason to believe that there are changes in brain function that are present by the time birth. Just because symptoms are not recognized until the 2nd year of life does not mean that the child was not born with the potential for this disorder. I often mention Huntington’s disease, a single gene disorder, which people are born with, but do not have symptoms for decades. Any condition that causes a child to feel less than well will impair that child’s ability to function at their best, so standard medical evaluation of reported symptoms should be pursued. HBO  Hyperbaric oxygen has been used in children with cerebral palsy to get “more oxygen to the brain.” The fact is that CP is a static encephalopathy and adding O2 to the brain in a child already diagnosed with CP cannot logically have any function. Providers of HBO have tried to treat many different conditions and have claimed benefit for everything from learning disabilities to allergies. Claiming that one treatment improves many unrelated conditions is a sure sign of pseudoscience.

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Chelation  Because there was mercury in thimerosal, a preservative used in some vaccines, and people wrongly attributed that to a child’s autism, a movement grew to remove mercury from the body. The only way to do this is to give the child a chelating agent to remove it through the urine. There was also mercury in dental fillings, which caused more panic in this group. Besides the harm of receiving an unnecessary medication and pain of injection, blood mercury levels could actually rise in the bloodstream as mercury is extracted from the body. There are no numbers as to how many parents got this or still ask for this for their child. This topic has not come to clinic in many years, but pseudoscience does not go away, it just looks for fertile territory. I do think that parents in my state knew what I thought about these things and those “believers” chose to see another provider. Androgen antagonist  Lupron, an androgen antagonist, has been used in the past. Because more boys are affected by autism than girls, there was a thought that perhaps testosterone negatively affected the brain and therefore reducing those levels would treat autism. I’ve seen at least one paper in a journal carried at our medical library that advocates “further research” because parents responded to a questionnaire with many positive observations. Adult perceptions are not as valuable as we would hope. Immunization refusal  There have been anti-immunization advocates since the very first cowpox vaccine emerged in the 1800s. When I was training, almost 40 years ago, there were people who were opposed to the DPT (for diphtheria, pertussis, and tetanus) shot, which was given around the 18-month visit, the same time parents start to acknowledge language and social differences in their children. The current vaccine in question was for measles/mumps/rubella (MMR) and was based on a now retracted study published in a British medical journal. Please see Dr. Offit’s book for details and note the outbreak of measles in 2019 in Oregon, where parents could refuse vaccinations on philosophical grounds. If I can interview a family prior to their developing a strongly held belief that immunizations caused their child’s autism, I can almost always find developmental differences that predated the particular immunization. If I can get a child’s story from the pregnancy onwards and see how the infant’s development unfolded, there is almost always something in the history that shows an altered developmental trajectory from early in life. The only exception to this occurs when a parent already believes in the “Immunizations caused my child’s autism” idea. Once this happens, the parent will not tell me that anything was wrong before. The story becomes “He was perfectly fine until the day after his MMR shot.” People construct the stories of their lives based on many factors. It is tempting for a parent to look outside of themselves to find someone or something to blame. People have a right to construct their life story as they see fit; even Jenny McCarthy is entitled to write her own life story. I draw a line between one’s story and reality. Just because someone believes something to the core of their being does not make it true.

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“Facilitated communication” or “FC” is a very dangerous and pernicious “­ therapy” or “communication system,” because it has never been shown that the communication comes from the child. The idea started in 1985, when an Australian physical therapist thought she had found a way to communicate with nonverbal patients. She used either an alphabet board or a portable typing device and placed the letters in front of the person with autism. The adult “facilitator” needed to hold the person’s elbow or proximal forearm, to “help” the child “find” the letter they “wanted” to type. Parents’ hope surged. For a while, I carried around a laminated alphabet sheet, just in case a child used “FC.” That was until research about FC started to emerge. For a fascinating account of this phenomenon, please see Howard Shane’s great book, Facilitated Communication: The Clinical and Social Phenomenon [8]. Believers in this method made an assumption that the signs of autism were due to a severe difficulty with motor planning and that a child with autism was unable to control their body enough to generate speech or use a typewriter independently. Although there are children with ASD who have difficulty with motor planning, most are coordinated enough to run into the street, escape from any adult trying to restrain them, and to jump repetitively. Many children with ASD are very good at computers, phones, and video games, which require fairly good fine motor accuracy. While “FC” was in full bloom, one child using FC accused her father of sexual abuse and was removed from the home. It was later discovered that the adult facilitator had been abused as a child. The simplest experiment completely discredited this “communication.” Using any audiologist’s booth, put headphones on the adult and child. Start to ask them questions, but start to pipe in music or white noise to one, while the other gets the real question. The only questions ever answered correctly in a non-biased experimental setting were only answered correctly by the adult. If the adult did not hear the question, the question was not answered correctly. This was devastating news to parents who thought they had “unlocked” their child. One would think that with the overwhelming evidence that this was not real communication would have led to its demise. It did in most parts of the world. However, in two states, two professors continued to discount this evidence. They continued to train graduate students. Everyone else moved on. That is why FC is included here and why you might still run into it in the future. There is another facet to FC that supports an underlying cultural bias that only smart people are valuable people. “Unlocking” the nonverbal person with autism means that they were “smart inside.” I believe that behavioral improvements reported by those who believed in FC arose because other people started treating the autistic person with respect and consideration. If we treat people with respect, they will respond in the same way. If we truly value people regardless of their abilities, we will value and respect the person with severe or profound intellectual disabilities. FC is a pernicious and harmful proposition because it perpetuates the bias that you have to be smart to be valuable.

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Other Implausible Therapies for Autism Swimming with dolphins: This requires no other explanation. Vitamin B12 shots: Children with ASD are not any more deficient in B12 than the rest of the population and do not need injected vitamins. Craniosacral therapy: Based on the (untrue) notion that CSF flows throughout the body and can be manipulated reflects a lack of understanding of cerebrospinal fluid. Energy field manipulation and therapeutic touch: The practitioner can perceive the recipient’s “energy field” and manipulate it without using physical touch. This theory was debunked by an 11-year-old, Emily Rosa, who disproved therapeutic touch in a simple experiment, published in JAMA [9]. Homeopathy: This is based on a “claim that a substance that causes the symptoms of a disease in healthy people would cure similar symptoms in sick people.” Homeopathic remedies might have one molecule of a substance in a vial of water. Auditory Integration Training: Because children with ASD may have hyperacusis, providers put headphones on children and make them listen to altered audio, with certain frequencies removed or changed based on the children’s audiograms. Our audiologist noted that the variations that these providers claimed were abnormal were just normal variations. MMS (Miracle Mineral Solution): A toxic solution of a powerful bleach, which children receive orally or rectally. This is based on an incorrect theory that  autism (and several other unrelated conditions) is caused by worms in the intestine [10]. The best thing about approaching these therapies is that, using science, we can use new data to come to new conclusions. Science is not static. There is no value to an approach to medicine that hasn’t changed for 3000 years. We study, learn, and adapt to new information. If there were a well-done, double-blinded, ­placebo-­controlled study that provided evidence that a special diet (pick one) helps children with ASD, we can change our minds tomorrow. The problem is, for the vast number of alternative or unproven therapies, if there is a level I study, it does not confirm the desires of those who want it to work. Until there is, these types of therapies stay in the “implausible” category. You may have heard about the magician Randi, a skeptical man very knowledgeable about how to fool others, who had an offer of $1million to anyone who could prove their paranormal claims in a controlled laboratory setting. The prize, which was initially smaller, went unclaimed from 1964 to 2014. Perhaps the major take-home point of this chapter is that, for autism spectrum disorders, there is no quick fix, no easy magic, just the hard every day work of making things better.

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References 1. Offit P.  Autism’s false prophets: bad science, risky medicine and the search for a cure. New York: Columbia University Press; 2008. 2. Hoffer E.  The true believer: thoughts on the nature of mass movements. New  York: HarperCollins’ Perennial Classics. Originally published in 1951. 3. Coplan J, Souders MC, Mulberg AE, et al. Children with autistic spectrum disorders. II: parents are unable to distinguish secretin from placebo under double-blind conditions. Arch Dis Child. 2003;88(8):737–9. https://doi.org/10.1136/adc.88.8.737. 4. Owley T, Steele E, Corsello C, et al. A double-blind, placebo-controlled trial of secretin for the treatment of autistic disorder. MedGenMed. 1999:E2. https://europepmc.org/abstract/ med/11104404. 5. Sandler A. Placebo effects in developmental disabilities: implications for research and practice. Ment Retard Dev Disabil Res Rev. 2005;11(2):164–70. https://doi.org/10.1002/mrdd.20065. 6. Tyrer, P. et al. Risperidone haloperidol, and placebo in the treatment of aggressive challenging behavior I patients with intellectual disability: a randomized controlled trial. Lancet. 2008;371:57–63. 7. Piwowarczyk A, et al. Gluten and casein-free diet and autism spectrum disorder in children: a systematic review. Eur J Nut. 2018;57:433–40. 8. Shane H. Facilitated communication: the clinical and social phenomenon. New York: Springer; 1994. 9. Rosa L, Rosa E, Sarner L, Barrett S.  A close look at therapeutic touch. JAMA. 1998;279(13):1005–10. 10. Offit PA.  Pandora’s lab: seven stories of science gone wrong. Washington, DC: National Geographic; 2017.

Part IV

Working with Parents: Primary Care Issues in ASD

Chapter 14

Respect for the Sensory and Anxiety Issues of Children with ASD

It may sound obvious or condescending to talk about this topic, as you are all respectful to patients and families. I mention this here because awareness of the sensory differences and intense anxieties of people on the spectrum may not be the obvious cause of disruptive behaviors that you may see, or may be reported to you as a problem. Parents may not be aware of how sensory and anxiety issues present themselves. In Uniquely Human, author of well-known books and articles on autism, Barry Prizant, devotes a chapter to sensory differences and is recommended reading for any interested party [1]. We may trigger unwanted behaviors in the office because of what we routinely do in clinic. Children with ASD are as different as any individuals but also differ on how much distress they experience “going to the doctor.” I knew one boy, who LOVED doctors’ offices, being measured, and getting his new numbers. This is unusual. Many children with autism can be very distressed by bright lights, being touched or restrained at all (especially head circumference and blood pressure), being with strangers, harder, louder voices or noises, and perhaps the unique smell of the office. These sensory differences can cause the perception of pain, even when we think “this shouldn’t hurt.” Sensory issues are a controversial subject, especially whether they can be effectively treated or not. We can never experience what the child experiences, but we can try to imagine what the world looks like from their eyes. Our ability to imagine this point of view shift is something that is usually very hard for the child with ASD, so they cannot understand why they need to be measured or examined. If we imagine that incoming senses can be louder, smellier, brighter, or harder to a degree that would cause us pain, we can start to imagine that child’s experience. To use a metaphor from old-fashioned radios, it is as if the gain dial was turned up to the highest number. In the same child, some senses may be under-reactive. For example, children with ASD are often under responsive to pain. Children may have a history of burns because of delayed reactions to touching the oven or stovetop. Once this happens, parents realize how vigilant they have to be to keep their child safe.

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Most children with ASD struggle with anxiety, often in unfamiliar situations, or changes in what they expect. They often live very close to the fight or flight trigger wire, and anything may trip the trigger. Children with ASD may be in fight or flight mode before they even are greeted. From the state of heightened anxiety, anything that happens, even a routine event, can lead to unwanted behaviors. Sometimes unwanted behaviors seem clearly oppositional, as if a child “won’t” or “refuses” to do something. Sometimes what you see is an increase in “autistic” behaviors such as hand flapping, jumping, or self-injurious behaviors. This child does not understand what is needed at this moment, is overwhelmingly anxious, and is unable to comply with adult demands. Think of this as something they have not yet learned to control. What you can do  Early intervention is the best prevention. Early in your relationship, ask the parent if there is a best way to help the child have a successful clinic visit. Sometimes a great visit happens because a parent has done a lot of prep work the day before. You can have a handout for parents along with the after visit summary to remind them to prepare their child for this experience before it actually happens. Knowing what will happen can reduce a child’s anxiety. We must always be honest with children, because children with ASD have very long memories, and you might not regain that trust if you say that “nothing will hurt” and that isn’t true. If this sounds contradictory to having a high pain threshold, think of it this way: a child with ASD may feel more distress being held down than they do with the injection. If they have good verbal skills and are calm, you can demonstrate how cold the alcohol wipe might be, how much you (or the nurse) will hold (not pinch) their skin, and that if they can stay still, no one will hold them down. If you have to restrain, tell them what you will do and ask them to help you count how long it takes, which provides a little distraction. Once a child is distressed, it can take much longer to recover than for typically developing children. Sometimes this is a clue to me that the child is like other children with ASD. Parents may say that distress “has to run its course” and that nothing will make it happen as quickly as we all want it to. Sometimes parents will allow the child to use an iPad or their cell phone, which can lead to immediate recovery. This does not mean that their distress was faked, or just a “behavior.” It means that parents really understand what comforts their child and do what they have to do to make an event successful. The effort by primary care providers to provide the best experience for a child shows respect for their differences and for parents’ knowledge of their children, and parents usually respond to this thoughtfulness with gratitude and trust. What the parent can do  Most children with ASD benefit from foreshadowing. This can be done with words or pictures, depending on the learning abilities and style of the child. Parents can take pictures of the clinic, the hallway, the check-in room, etc. and write what is called a “social story,” a narrative of what to expect that is both specific enough to be useful and general enough to account for some ­unexpected changes. The parent then reviews the social story about “going to see the doctor” before the visit. Parents can bring with them items they know their child

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likes, whether that is a snack food or related to their favorite topic of interest. I’m not a fan saying, “If you are good here, we can go to McDonald’s” for the obvious reason of nutrition but also because it can be too long to wait. Immediate and concrete rewards (e.g., a Skittle for getting their head measured) are effective. Also “be good” is too vague and the lunch food too imaginary. What to do in the ED  Several articles have been written about helping and treating the child with ASD in the ED. I have given talks to ED staff on this topic. It isn’t easy, but there are better and worse ways to approach it. In a tour through several articles and websites, similar advice for parents and staff that I thought might be helpful emerged, including: • Let ED staff know that your child has autism and will do best in a quieter environment. • Be prepared: Parents might bring a (short) summary of their child’s needs to hand to ED staff upon arrival. • For ED staff: Tell the child what you are going to do, when you are going to touch them; ask yes/no questions; use shorter sentences. • Use a calm voice. • Parents should bring comfort items for the child with them (but not food). Excellent effort and progress is being made through the efforts of academic research (Nicholas et al. 2016) [2] and grass root activities. Some of these things can be done ahead of time, and in case they are needed, the parent can just grab a bag, much like the one they took with them to the hospital when the mom was in labor. Being prepared, on both the part of the parent and the ED staff, leads to the best possible outcome. Once the behaviors become habitual or the behaviors affect the child’s and family’s quality of life, treatment of chronically challenging behaviors often moves into a psychopharmacologic mode, which can make a behavioral program more accessible to the child. When the person with autism is upset or scared, the approach of an adult, even the parent, can be perceived as threatening. If you try to physically restrain the person, that person may fight as if their life depended on it. Of course, if it happens, we do what we have to do, and in an emergency, parents understand this. Letting parents know that you do not blame the child for their behavior or them for not controlling their child better can help the whole family feel supported by you and your office staff. Everyone does the very best they can.

References 1. Prizant BM. Uniquely human: a different way of seeing autism. New York: Simon & Schuster; 2015. p. 256. 2. Nicholas DB, et al. Toward practice advancement in emergency are for children with autism spectrum disorder. Pediatrics. 2006;137:S205.

Chapter 15

Teaching Effective and Positive Parenting Skills

There is a “before” and “after” for parents with children with ASD. People have expectations about what kind of parents they will be long before they become parents. They usually have to change those expectations when they have a child, who is different than they expected. No one expects that they will have to teach children how to tolerate the physical world or teach every social skill that child acquires. Even small expectations, like where the TV should be, may need to be changed. Most parents will adapt, but they do not know how to get there. If you understand some of their struggles and have ideas to help them approach these quandaries, parents can be very grateful. Children with ASD have a “behavioral delay.” This idea, developed by psychologist Ross Greene, PhD, in his landmark work, Lost at School (Revised, 2014) [1], and the follow-up work Lost and Found (2016) [2], gives us the best way of looking at noncompliance in children. His central thesis is that children have disruptive behaviors because of a gap between an adult’s expectation and a child’s abilities. This idea changed how I viewed all children’s unwanted behaviors but is essential for children with ASD. The approach, Greene says, is to first figure out the gap between expectation and ability. The next step is that the adult has to meet the child where he or she is at the moment and then try to teach the child whatever skill they lack. When the adult adjusts first, the child immediately becomes more successful and then less resistant to adult requests. Greene advocates creating success after success. When children meet repeated failures, they may resort to disruptive behaviors, often unconsciously, or at least without malice or intent to harm. If we as adults yell or hit, we are teaching children to do the same. While I believe this is true for all children, it is especially true for children with ASD. It is imperative that we model the adult behaviors we ask our children to have. A child with ASD will not intuit social rules like “Children should listen to the adult in charge” nor generalize the meaning of these rules without specific instruction. We cannot instruct without modeling.

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When parents ask “How do I discipline my child?” they are usually asking about punishment. They are correct in thinking that what they were used to doing with their other children does not work for their child with ASD. I reframe the discussion to be about teaching. Discipline is teaching your child to be the person you want them to be. We talk about the “Four C’s”: • • • •

Be clear. Be concise. Be calm. Be consistent.

Be Clear  Adults often use imprecise speech. “Be nice.” “Clean your room.” “Later.” Children with ASD are both concrete and literal, and “clean your room” has many possible meanings. They may not know what to do or how to do this, even if they seem as if they understand the words you are saying. While a neurotypical child of similar age would know what you want, but may not want to do that, a child with ASD can be less attentive to your words and need much more clarity about your meaning. When faced with failure to respond to an adult request, ask the parent to break that request into a very small piece. For example, “Put the books on the bookshelf,” or “Put the little cars in this box.” Or even, “Put this book here.” The parent may need to demonstrate once. “Be nice” is very vague. Being clear would be, for example, “Hands down (with demonstration)” if touching or hitting is a problem. “First your turn, then Joe’s turn” if the trouble is around sharing. Be Concise  Whenever humans feel stress, we respond to and use our language less well. This is probably why firemen and policemen do not converse with us in a crisis. They tell us what to do in short, declarative statements. “Sit there.” “Don’t go there.” “Stop.” Children with ASD get into stress mode very easily. When stressed, even over a very minor event, adults must move into short, declarative statements. Two to three words, then wait. I ask parents not to repeat themselves, saying the command over and over. Some children with ASD have speech processing delays, and saying something over and over can create more distress and less responsiveness. Saying a request in a louder and louder voice is likely to increase the perception of stress and decrease the likelihood of compliance. Hearing is not the issue. A lot of times when parents talk through and over a child’s meltdown, they are really talking for themselves. The child is not listening. Parents are saying things they know that parents should say, but what is needed is less. Less is more, usually, much less talking is needed. Be Calm  This is tough but needed. No parent can be calm at all times, but calm should be a goal. State the request calmly but clearly. If the adult becomes anxious about a child’s behavior, the child with ASD, who usually has anxiety, gets more anxious, and the situation spirals into a meltdown. Being calm is modeling adult

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behavior. Because George had immediate echolalia, his mother always said “No, thank you” when she meant “NO!” because George would then echo a very polite statement, in a pleasant voice. A brilliant idea I passed on as often as I could. Be Consistent  This is true for all children, but especially true for the child with ASD who has an amazing memory and will remember exactly what you said or did before. Over 40 years ago, a primary care pediatrician taught me how to explain consistency in a way almost all parents understand. Imagine you get up every morning and drive to work. You come to the stoplight, and if the light is green, you go. What if some of the time green means go, but at unpredictable times, green means “stop!”? Could you drive to work? If the rules change, the child is unsure what to do. This is another thing that is impossible to do 100% of the time. However, 75% is so much better than 25%. One way parents can also help children is to stop asking “do you want to?” or “can you?” questions when the child has no option. As healthcare providers, we learn early that we do not ask children “Can I look in your ear?” We make a statement: “It’s time to look in your ear,” or we give a real choice, “Which ear should I look in first?” Asking a child who is very literal, “Do you want to?” when there is no choice is VERY confusing, and contributes to not listening when there is a real command. Children with ASD will not intuit the difference. Follow through is part of consistency. If a parent yells across the room, “It’s time to clean up!” and the child does not respond to the command, it is essential to follow through and make it happen. Hopefully, the parent can say this in a pleasant way. If the child does not respond to the second command, the parent has to get up and go to the child. I’ve found that if I do even one demonstration, the child has a visual model and will do what is asked. If the child continues to not respond to the adult, and the command is a short and clear as it can be, then I put my hand over the child’s hand and “help” them put the toys in the box. I thank them as if they participated, even if they resisted being touched. Every moment can be a teaching/learning moment, and parents have many opportunities in a day to help their child become the happy, polite child that most of us want. This is a “good job!” because it is the best job that child could do at that moment. It is better not to ask something of a child than to ask and not follow through.

I also talk about the “No orifice” rule. Adults do not control any orifices: eating, peeing, or pooping. The child controls whether one is open or closed. If we insist that a child will “Eat that!” or “Use the potty!” we set ourselves up to fail. I want parents to set themselves and their children up for success. Don’t fight over orifices. You no doubt have positive parenting resources you recommend to parents. The one I gave to residents is “Positive Parenting: Tips on Discipline” from the Children’s Trust Fund, but there are many others. The most powerful tool available to parents is the “if/then” statement. Neurotypical children start to get “If you do this, you can have” or “If you do this, this (reward or more unpleasant thing) will happen” around 18 months. One cannot

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predict when the child with ASD will start to understand consequences, secondary to language comprehension or other developmental delays. I have cared for children who do not ever reach this cognitive stage, and forever need to be watched 24/7, redirected, and kept safe because they do not understand that their actions lead to different consequences. Most children will get there. Once they have this skill, then parents can use this forever. “If you do this, I can help you with that.” This is the most powerful parenting and teaching tool that exists. If the word “if” is challenging, then parents can say, “First do this, then you can do that.” Intensive behavioral programs for children with ASD frequently use contingency as a main teaching tool to start with. Passions  Encourage parents to use their child’s passions. I don’t use the word “obsessions” because I can’t draw a line between where a passion crosses over to obsession. I think that what seems “crazy” to me, might be seen as typical behavior for another person, who has different interests. Passion gives people purpose. Passion energizes people to learn, to find, and perhaps to share with others who share that interest. Passion drives many children with ASD towards focused attention to trains, computers, pipes, buildings, car models, geography, art, and many other topics and pursuits. It is our job as adults to build a bridge from that passion to something else a child needs to know and then from that knowledge to build other bridges that help the child learn the principle or idea involved. Let’s take a very common passion for children with ASD: Thomas the Tank Engine ©. Thomas is a cartoon for children and the lead character, an engine. His friends are other trains, each with their own names, colors, and numbers. Trains naturally line up, and their wheels are supposed to turn. It makes lining up toys and spinning things appropriate play. Many a child with ASD lies on the floor with their eyes at wheel level, watching the train wheels roll back and forth. Many children with ASD seem to learn the colors, numbers, and names for the trains without effort. There are at least 70 characters, trains, and other vehicles in this universe. A parent of a child with ASD might be ignored unless the parent says “Charlie, TRAIN!” Then Charlie, who might not turn to his own name, will often turn to look for his favorite subject. Once you have the child’s interest, you have opened the communication window a little, and if you act quickly, you can slide other things through. If the child knows that Emily is the dark-green train, you can casually say, “Spinach is dark green, like Emily” and earn more attention from the child. Whenever you see dark green, in a car, an awning, or a shirt, draw the similarity with Emily. If the child has toys that have numbers on them, the adult can convey both counting and number concepts. “How many?” Is a harder concept than the directive to “Count them.” Parents can first get the child to count the trains. This is called “1:1 correspondence” if they give one number to each train. Parents can then teach the number concept by asking “How many trains?,” which requires that the child have the idea of numbers. If they are not sure, use the instruction to “count” and do it with them, one train at a time.

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Parents can use the language of their child’s passion. For trains, if a child is misbehaving, the parent can get a better reaction from a child by saying, “You are off the tracks.” Saying “Time to go back to the station” increases the chance that the child will understand that it is time to go home. There was a time when banning the obsession was recommended to parents, and I have still heard that parents were told to get rid of all the trains (or whatever) within the last couple of years. I see more to gain from using the passion than getting rid of it, and I think that this is the trend of most intervention programs.

Screen Time “Parents should limit screen time to 1 hour per day.” While I agree with the ideas in that statement, one, that parents should be in control of screen time and content for their children and, two, that most children get too much screen time, I also feel that screen time needs to be evaluated with some caveats for children with ASD. What if screen time is the child’s passion? Children with ASD often have a strong preference for screen time of all sorts: phones, tablets, desktops, laptops, and even television. This strong preference is directly related to their social challenges. Computers are predictable in all the ways that people are not. Computers do not have social expectations of you but are under your control. Computers give children with ASD access to media that gives them comfort, reduces anxiety, and keeps them centered. This is true for verbal and nonverbal children with ASD. What parents can do depends on when they decide to do something and what their goals are. “Machines were never mean to me.”—John Elder Robison, “Look Me In The Eye,” 2007 [4]

If you discuss anticipatory guidance on screen time around the 1-year visit or earlier, then you can get ahead of this issue. This has to be discussed before the child has discovered the entertainment value of screens. Of course, no child has a firm diagnosis of ASD at this age, but the earlier you start a discussion about screen time, the more all parents have the power to shape their children’s exposure. Some families are so aware of this problem that they do not own a TV, but it is a rare family that can function in our society without a cell phone. Children see us using our phones. It’s impossible for them not to see the bright screen with buttons. Most families continue to use their media as part of daily life and haven’t thought about what to change when children are born. If you can get parents to think about screen time from infancy, then they have much more power to regulate and use screen time. Once the screen is out in the open and the child has regular access to it, it is hard to put that cat back in the bag without a challenging struggle. If children with ASD know from the beginning that they do not have free access, then parents can use that powerful fascination. The child needs to understand the ­if/ then construct, but once they do, “IF you pick up your toys, THEN you can watch one (22  minute) show,” or play one game, or surf YouTubeKids, parents can get

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children with ASD to do things that the chidren do not want to do in order to get a powerful reward. You also have the ability to recommend that there is never a screen in the child’s bedroom, and they can never have it 1 hour before bedtime. This is so much easier than changing an expected activity. Let’s say that parents missed this window and the child with ASD spends hours by themselves everyday watching a screen. It is important to determine the function of screen time for that child or the family. Sometimes giving the child screen time allows a parent to interact with siblings or make dinner. Sometimes there are few other options. Sometimes, screen time is the main source of calm for the child, who has worked hard all day at therapy or school. An hour of using media after this intense work may be exactly what the child needs to unwind. So long as this does not become 4  hours or 5  hours, and so long as parents know what their child is watching, I can make the case that this is of value to the child. Regarding parents knowing what their child watches: It is critical for parents of children with ASD especially to know exactly what they watch, learn the characters of the shows they watch, and even pick up familiar lines that characters say. While it would be nice if parents of all children did this, I think it is necessary that parents of children with ASD do so. Children with ASD do not go to parents and share their experiences the way neurotypical children do. Parents of children with ASD have to go to the child, meet them where they are, and look for ways of connecting with them. Because the relationship is not reciprocal, parents have to travel further to reach the child. If a child loves football, rewards can be given with “You made a touchdown!” Or for basketball, “You scored THREE points!” The book Life, Animated, by journalist Ron Suskind, shows how the author taught his son to use language and converse by learning all the lines to the movie “Aladdin” [3]. This is a prime example of what has been called “affinity therapy.” In practice, we have been using this idea for over 30 years in our clinic. Knowing “What would Dora the Explorer do?” gives parents more tools with which to work. This also goes for more advanced teens. If a child shows an interest in anything, parents need to learn about that interest: space, plumbing, escalators, geography, types of dogs, Harry Potter, Star Wars, Lord of the Rings, and as many different topics as there are children. Once connected, parents can use what happens in the story to illustrate activities of everyday life and relationships between people. Harry, Hermione, and Ron, the three best friends in the Harry Potter series, sometimes act like good friends and sometimes do not. “Remember when Ron was mad at Harry?” can be related to some event in the child’s life. Once the child can make this connection, parents can use the illustration in multiple contexts so that the knowledge can be generalized. If a child is getting screen time as a reward, parents must hold up their end of the bargain. If a child is getting screen time because it is a major anxiolytic, parents cannot take that away without replacing it with another activity that allows the child to find calm. Once the child has learned another calming activity, then parents can start to limit screen time, while practicing replacing it with this other activity.

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If parents want to decrease screen time, I would recommend a slow taper, just like coming off a medication. Have parents record data from a week or 2, to see how much the child actually is in front of a screen. From that average, try to back up 1–2 minutes per day. Not easy, but nothing worth doing is. Another factor to consider is whether parents are willing to forego some of their own screen time to model this behavior for the child. We can’t expect a double standard to work. We can’t try to restrict a child’s screen time while spending most of the evening doing this ourselves. Creating an hour for a family walk or time to play a game together are some of the things parents have tried successfully to replace some screen time. Making art or music works for others. For adults with ASD, online gaming, such as massively multiplayer online games (MMOs) such as World of Warcraft or Star Wars Commander, can provide a comfortable social distance and comfortable venue. As adults, we can choose how we spend free time, and if an adult with ASD chooses to spend their leisure time online, there is little harm and much to be gained. I have watched an adult with ASD, who is awkward and dysfluent in a group of people, become fluent and funny when he does not have to contend with people in the room. Obviously, this has to be actual leisure time and not a person’s way to spend all day, every day. The people known for complete withdrawal from society and constant online gaming are known as “hikikomori” in Japan, where an estimated 1 million young (mostly) men have retreated to their rooms and do not come out, sometimes for years. Their mothers leave food outside their rooms. I could not find out how many of these hikikomori have an ASD, but I suspect the number is higher than the 1–2% population estimate. People have speculated that these (mostly) young men have failed to achieve the expected success in a culture where conformity and success are highly valued, but some have found expected diagnoses of mood disorders, including social anxiety. This is the extreme of nearly constant screen time. I have seen a couple of adolescents for whom this is their life, but I suspect that earlier intervention and possibly medications to treat the mood disorder and therapy could have redirected this life course. In 2018, excessive gaming will be a diagnosable condition if the ICD11 keeps it in the final version. DSM-V said that Internet gaming disorder warrants more research and did not include it in the 2013 edition. Use of social media is another topic. Cyber bullying is a real threat to children, especially those with differences or disabilities. If I were a parent of a child with any differences in today’s culture, I would be very careful about allowing any child to enter this world at all. I have been very tolerant about many different ways for children to learn, but the damage that can be inflicted by social media can be enormous, even life threatening. There has been a developing body of literature on cyber bullying in autism. Children who are bullied and children who bully both have higher rates of anxiety and depression. Parents underestimate how much time children spend on the Internet and do not know as much as they think they do. One good finding is that 82% of parents in one study reported that they had established rules about Internet use. (Kowalski, 2011) [5].

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Sense of Time Once a child understands the “if/then” request, they can earn screen time. One thing that makes this harder to control is the child’s lack of sense of time. Children with ASD tend to “live in the moment,” and I have heard from adults with ASD that it is hard to think about the past or the future. Imagine if you existed in the present moment and felt that both the past and future were vast abysses, which did not really exist. One woman diagnosed with autism as an adult told me this is how she experienced time. This would make it hard to learn from mistakes and hard to plan ahead, to see likely consequences. Parents are terrible at teaching time, because we say things like, “In a minute!” which could be 30, or “Later!” which has no concrete meaning. We advise parents to get “visual timers,” which look like kitchen timers but have a visible red section that diminishes with passing time. The child can more easily see the passage of time. That helps some children. Microwave or smartphone timers help others. If you go to the App Store, there are “visual timers” available. This lack of time sense is why you see so many recommendations for “immediate and concrete” rewards. A child needs to know right away that they did the right thing. Because they may not respond to verbal praise like other children, having a small, tangible thing can be very effective. Planning ahead is also an executive function, which can be impaired in both ASD and ADHD. In summary, parenting the child with ASD at its best requires imagination, persistence, energy, and unconditional love. It requires not blaming the child for things he or she cannot yet do, but it also requires not blaming one’s self. It is harder for the parent to raise the child they want to have and also harder for the child to be the person they want to be. When behaviors escalate beyond typical temper tantrums and begin to hurt or endanger the children themselves or others, these become “challenging behaviors,” which require more analysis and thoughtful planning.

References 1. Greene RW. Lost at school: why our kids with behavioral challenges are falling through the cracks and how we can help them. 2nd ed. New York: Scribner; 2014. p. 315. 2. Greene RW. Lost & found: helping behaviorally challenging students (and, while you’re at it, all the others). San Francisco: Jossey-Bass: A Wiley Brand; 2016. p. 203. 3. Suskind R. Life animated: a story of sidekicks, heroes, and autism. Los Angeles: Kingswell; 2014. p. 372. 4. Robison JE. Look me in the eye: my life with Asperger’s. New York: Crown Publishers; 2007. p. 288. 5. Kowalski RM, Fedina C. Cyber bullying in ADHD and Asperger syndrome populations. Res Autism Spectr Disord. Elsevier. 2011;5(3):1201–8.

Chapter 16

Challenging Behaviors in ASD

The ABC’s of Challenging Behaviors Challenging behaviors may be the hardest part of parenting a child with ASD. People tend to judge parents as “bad” if they see a child acting out in public. This happens so often to parents that they may be reluctant to take the child out of the comfort zone of home. Their social circles may get smaller. Even relatives may not understand that parents are not in control of their child’s intense reactions to everyday things. Some challenging behaviors can be solved simply, as the term “challenging” is in the eye of the beholder. I once had parents who were describing their child’s horrible meltdowns, and my impression was that these were epic. However, they showed me a video of one such episode, and to me, it looked just like a 2-year-old tantrum. For these parents, that was challenging. The fix was relatively simple (see Chap. 15. Teaching Effective and Positive Parenting Skills). What most people mean by challenging behaviors in ASD are things that are outside the range of normal. They can include biting, kicking, hitting, scratching, prolonged meltdowns, running away, screaming, and others. The behaviors can be directed towards others (seen as aggression) or towards themselves (self-injurious behaviors).

Box 16.1 Imagine you are a child with ASD. You have sensory issues and anxiety, and many things in your environment can make you feel “fight or flight.” The automatic toilet flushes, or someone uses the hand dryer. You start screaming, maybe putting your hands over your ears. You do not understand what your mom is saying, because you are under such stress. You do not understand

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other people’s negative reactions to you, because you have autism and don’t understand other people’s motives. Your mom gets you out of the public restroom, but you are still upset. She has to get you back to the car and into your car seat. You fight with her, and hit and kick. You are not trying to hurt your mom, but you do. You do not want to be restrained by the seat belt, so you are upset the whole ride home. She gets you home, and as soon as you walk through the door into your comfort zone, you are fine.

If a parent presents to your office asking what to do for challenging behaviors, the easiest strategy to start with is the “ABC” model. “A” stands for antecedent, what happened just before the behavior? Some parents know their child’s triggers, and some are predictable: saying no, not letting the child do something they wanted to or expected to do. These triggers can be very small events, so the parent needs to watch their child to identify them. In school, triggers are often missed because the teacher’s attention cannot be everywhere at once. School psychologists may be trained to do a “Functional Behavioral Analysis,” a technique that involves close observation, looking for the triggers, but also figuring out what function that behavior has for that child at that time. Children with ASD may use unwanted behaviors to express distress, frustration, anxiety, hunger, pain, boredom, and lack of understanding about what they should be doing. There may be sensory issues at play. The child, when distressed, may not use language that they have and may not listen as well as they can when calm. So we have to see what happens before the “B,” which stands for “behavior.” Find out what the child does, how long it lasts, and how much injury is caused. The “C” is for consequence, or what happens in reaction to the child’s behaviors. Consequence does not mean punishment, just how others around the child react to these behaviors. Adult behaviors can trigger challenging behaviors and can also prolong the episodes, depending on what they do. Unintentional reinforcement can happen when adults respond to the behaviors. Psychologists and behavioral specialists recommend total ignoring of the behavior, so the child knows this is not how they get what they want. This ignoring should lead to “extinction” of the behavior. It is very hard for parents to do. If a child is hitting you, I don’t think a parent can ignore it. If a family is in public, it is impossible to ignore a child’s behaviors, especially if they attacked someone else. Extinction works best with in-home therapists, who can keep an emotional distance from the situation, and who are not judged by the behavior of that child. As discussed under Effective Parenting, it is the theory of Ross Greene, child psychologist, that disruptive behaviors in all children are the result of a mismatch between adult expectations and child ability. He sees children with challenging behaviors (with or without autism) as having a “behavioral delay” and wants people to think of it as a type of developmental delay, equivalent to an 18-month-old, who is not walking. As I mentioned in Parenting (Chap. 15), his work completely

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changed how I looked at behaviors in children. I became more nonjudgmental and worked harder to find the triggers or meanings of behaviors. Changing an adult expectation to meet the child’s ability gives the child the chance to be successful. The more the success, the fewer the negative behaviors. One of the invaluable resources created by Dr. Greene is his “Bill of Rights For Behaviorally Challenging Kids.” When you read it, you may find, as I did, that there was so much more I could do. It is a moving and powerful document (Appendix B). Any type of positive approach to behavior will work best, if you and parents have started to change what you do early in the child’s life and learn to create many moments of success every day. If a pattern of negative behaviors becomes a habit, the way a child reacts to negative experiences or situations, it becomes much harder to change. Early intervention for behavioral delays is as important as any other early intervention. Some people view the motor stereotypies of autism as a challenging behavior. It does not seem that hand flapping or jumping is a behavior that hurts anyone and sometimes occurs when the child is happy or excited. Why put a tremendous amount of effort into changing something that may be a comfort or expression of joy and does not hurt anyone? If it occurs with distress, it is probably one way the child has to express that distress, and we have to figure out the cause of the distress, not how to eliminate the symptom of distress. It has been said that if you try to suppress a stereotypy of one kind, you can, but that the child may well develop another one to replace it, possibly with a less desirable one. It is not the kind of behavior that a child does to annoy someone. Focus on the actions that matter. Often the hand flapping is distressing to the parents because it is an obvious way that the child looks different from others. This is the parents’ distress, though, not the child’s. If the person with ASD is able to express a desire to change, that is a different situation and amenable to psychological strategies.

Having Appropriate Expectations Another major cause of challenging behaviors in ASD is impaired ability to communicate. This is most obvious in nonverbal children. But even children with verbal language can have a hard time responding to and using their language when distressed. The main language problem in autism is the social use of language (language pragmatics). Even if a child can use language to talk about their interests, or to let others know what they want or need, their ability to converse, to understand what another person may mean, and to listen to verbal input that is inherently not interesting to them (or they can’t even hear in the moment) means that talking a lot to get a child to calm down should never be the first line of response. We always try to find a way for children to communicate. With Augmentative and Alternative Communication, also known as AAC, speech and language pathologists and occupational therapists, who provide consultation and service to nonverbal children, know how to use both low-tech and computer-assisted methods to find the

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best communication system for individuals with physical and developmental disabilities. An accessible guide to AAC can be found at https://www.asha.org/public/ speech/disorders/aac/. ASHA stands for the American Speech and Hearing Association. For some children with autism, having a way to express themselves takes away the reasons for the behaviors. For other children with autism, they may now be able to ask for things they want, but having a communication system does not give them skills in the social use of language. Those impairments remain without further training.

Box 16.2 THE POWER OF RESPECT: We all, public and professionals, have a bad habit of showing more respect to people with disabilities if we think that they have normal intelligence. If they have a significant intellectual disability, at some point, we stop thinking of them as people who deserve the same respect and care that other human beings expect. Perhaps we think that the person is so disabled that they won’t notice whether we talk to them or not. We talk to the parent or guardian instead of the patient. I always try to address the child or adolescent early on, both to find out if they respond to me and to show that I respect this child’s personhood. I think this idea is why there are people who want to believe that the child (or adult) with autism is “locked inside” and unable to express their thoughts and feelings. If we believe that they are “in there,” we treat them differently than if we think they are not. I think this is the basis for why people claim that facilitated communication “works” (see CAM therapies Chap. 13). I think once people start to treat the person with autism and/or ID with respect, that the positive changes seen are secondary to this phenomenon. I see IQ as a number that is like your adult height. It’s not going to change too much after a time. It helps others understand your disability. It makes people eligible for disability supports and community services. It is essential to have appropriate expectations, so you can create the success I’ve been discussing. There is such a stigma around IQ that it became yet another topic that can’t be discussed rationally with people who disagree. Yet, I think that if we simply treated everyone with the respect due to them as a human being, the person will respond in kind. If you think about it, one of the worst fates for any human is to be “locked in.” You may remember the editor in The Diving Bell and the Butterfly, Jean-­ Dominique Bauby [1], who suffered a severe stroke, and could not move anything but his eyes. His cognition was fine and he eventually wrote a memoir, letter by letter. To me, that sounds much more horrifying than to have trouble learning, the degree of trouble captured by a number. Children with ASD are not neurologically “locked in” in this way.

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When the person with autism is upset or scared, the approach of an adult, even the parent, can be perceived as threatening. If you try to physically restrain the person, that person may fight as if their life depended on it. Restraint almost always makes things worse and should only be used if the person is harming themselves or others. If a challenging behavior is not addressed when it first appears, then the trigger for the behavior can get lost. Reacting in a physically aggressive or self-injurious way can become the child’s way of responding to negative events or emotions. Early intervention is particularly important for this reason. Most children with ASD, if given respect for their personhood, recognition, and understanding of their anxiety and sensory issues, with many opportunities for success every day, will develop into the person that you and their parents want. It is very hard work over a very long time but will be successful for most families. Sometimes children are so communication impaired that no one can find an effective system. One of the goals in these situations is to change the environment to not elicit the behavior. This can involve simple things like light switch covers, so the child cannot flick on and off the lights or can be more involved like the mom who had to have every horizontal surface clear, as the child did not like anything on those surfaces and would sweep them off. Changing the environment avoided triggering a very challenging behavior. There are only so many battles parents can try to take on, and we want to put energy into the ones that are the most problematic and the most possible to change. Changing the environment to help prevent challenging behaviors in children is an especially useful concept here and also decreases negative interactions. For the verbal child, it can be harder to see what is going on. There is a feeling that if a child can talk, that child can communicate. This is not true for several reasons: 1. Children with ASD are usually anxious children, and small things can get them into “fight or flight” adrenergic overactivity. When anyone is highly distressed, they do not communicate at the same level they can when they are calm. They can get into this mode quickly and often. 2. Talking is not communicating for children with ASD.  Many can repeat lines from movies, or even whole shows, but not answer a simple question. Talking about a passion, like trains or Pokémon, is not the same skill as using words to express feelings or even accurately report events. 3. Receptive language, understanding what others say to you, is often lower than expressive language in ASD. Without language testing that looks at these skills, we may assume a child should be able to understand at the same level as their speech. This is often wrong and sets children up to fail. 4. Children with ASD do not have the same social understanding of the role of adults as other children. Many believe that all people, including themselves, are equal. They may have to learn to attend to the teacher. 5. Listening to spoken language may be less well-developed than other skills. Children with ASD often follow their own interests and own train of thought. They may be thinking about other things and miss critical information that the teacher or parent assumes they have heard.

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Safety Issues and Specific Challenging Behaviors Children with ASD often have a limited awareness of physical danger. Several factors may play a role in this observation, which may be important for some and not for others. Keeping children with ASD safe can be a full-time job. Danger is an abstract concept which can be harder to teach than letters or numbers. This challenge is why accidents are the leading cause of death in children with ASD, at a higher rate than neurotypical children. All the usual precautions should be taken of course, such as water heater temperature, helmets when biking, and toys of appropriate size for developmental level.

Factors That Affect Safety Relatively good gross motor skills  While many of my patients have some mildly low tone, the typical child with ASD has very functional gross motor skills, often in excess of their understanding. They can run, jump, and climb, all skills that can put them in dangerous situations. High pain tolerance  Children with ASD can have a very high pain tolerance, which makes learning about dangers that much harder. If you don’t respond to danger with pain or expected pain, then it is not logical to avoid these situations. This is also true of children who hit others. Some children with ASD like to be tackled and to play physically. They may not understand that other children may not like this. One child I remember used tackling another child as the first social greeting to engage them in play. This was not a successful strategy. Also consider that if you did something and it did not hurt, you might not avoid doing that again. Living in the present moment  Discussed under Diagnosis and Sensory Issues, this makes it hard for the child to anticipate future situations. Intense interest in something  If a child with ASD sees something they love, it doesn’t matter where it is; they will try to go to it. Intense interest in the danger itself  Children can be fascinated by things like fire, deep water, or electric outlets. This is a challenging situation that requires the family set up the environment to prohibit access. Impulsivity  Control of this executive function is often impaired in children with ASD, whether they have an ADHD diagnosis or not. Impaired adaptive skills  Part of this delay in everyday living skills has to do with not knowing how to use what they know. This may be seen as a deficit in “common sense.” It means that even children with very high IQs can be at risk from everyday situations.

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Impaired cognitive skills  Of course, if children are functioning cognitively like much younger children, one has to provide the level of safety for that younger age. Less developed knowledge of social rules  Children with ASD do not reliably “pick up” ideas such as danger from watching others. They often need to learn these rules of survival by trying something themselves. And knowledge of the rules does not necessarily lead to implementation. A child may be able to say “Look both ways before I cross the street,” but a parent should not think this means they can implement the rule when needed.

Specific Behaviors and Dangerous Situations Head banging  For years, we have told parents that head banging does not cause brain injury, even when disabled children do this with great force, but with the recent developments in our knowledge of traumatic brain injury, I’m not so sure about this any longer. As of this writing there is no article on effects of head banging in people with ASD (still true Sept 2019), only head banging in heavy metal rockers. To be more cautious, until we have more information, I think head banging should be treated as a challenging behavior that needs analysis and intervention. Hitting  When children with ASD hit others, parents have told me: “This is how he gets my attention.” “His dad wrestles with him, so he thinks this is how you play.” “He’s just angry.”

On some level, parents think that this is just a phase or once the child starts talking, this will go away. In reality, this can become a way of interacting that will not be well-tolerated by anyone outside the family and has to be prevented. When 2–3-year-olds hit, a parent can almost always see it coming. Something happens, the child looks angry, and then the arm is raised. Right then, the adult needs to take the arm and put it down. What the parent says depends on the language understanding of the child but could include: “Gentle hands” with a demonstration, taking the child’s hand and making it pat gently. “You wanted TV.” (Or whatever the child wanted) “You are angry.” “Do you want ___ or ___?” (Two acceptable options) “Let’s look for ___.” (Distraction)

The important thing is that the child does not get to hit anyone. Fire/hot things  “Hot” is often the first danger that all children learn. Hot is an immediate danger and one that can be experienced in the moment. All other dangers require anticipation: IF I run into the street, a car could hit me. IF I go out to far in the water, I could drown. “Hot” at least lets you feel warm before you get too hot, but some children with ASD have a high tolerance for pain and a fascination with fires or hot things. One of my patients put his hand on a hot stove and did not react

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to it even as he burned his hand. He did not have the usual “pull away” reaction that is expected and had a significant burn because of it. Elopement  Some children with ASD like staying in the comfort zone of their homes, but other children like to wander. They may leave home or school without thinking to tell anyone where they are going. Sometimes children leave their parents in a store and then find a small quiet place to hang out. If they do not routinely turn to their names, it may be quite hard to find them. Strategies for parents include: • Backpack of an animal with a tail parents can hold as needed. • Parents usually choose safety over care about what other people think. Some children are so fast and so determined to run the second they get the chance that a harness system or wrist “leash,” if you will, can protect this child from running into parking lots, across streets or away from parents in a mall. Your support for this option is in the best interests of the child. • Alarms triggered if a light beam is breached. • Identification either with a standard Medic Alert bracelet or anklet. Even if a child can say their name and an address or phone number, they may not be able to say it if asked by a policeman or other adult if they are feeling distressed. • Identification and location with GPS tracker. Some systems are linked to local police stations for children and teens most prone to elopement or wandering. Encourage parents to alert local law enforcement to tell them about their child’s disability. • “Eyes on” for especially dangerous situations such as lakes or swimming pools. One adult is designated the child watcher. I lost one patient, whose parents were distracted by their other children fighting, and both attended to them, while the child with autism went into the water and drowned. This is not a theoretical concern; it actually, tragically, happens to families. • Fencing: Sometimes a backyard fence can allow a child with ASD to be able to play outside safely. This still requires training so that the child knows he cannot climb the fence, but at least the child has the freedom to roam outdoors without having to hold a parent’s hand. Fences are expensive, but give the whole family a better quality of life. Some states have a family support program where funds can be put towards a fence. For families that cannot afford or are prohibited from fencing, some have used colored spray paint and have colored the limits of the yard. Children can be trained to stay within the lines. Sometimes orange safety cones can serve the same purpose. • Door locks: In order for some families to sleep at night, they can reverse the door lock so that it only locks from the outside. Children should not be able to lock themselves in their rooms, as twisting knobs or playing with buttons can be an irresistible attraction. Your support of this option can alleviate guilt that parents feel for locking the bedroom door. For doors leading to the outside, a simple eye and hook placed high enough in the screen doorway can keep a child from leaving the house, even if the main door is open for air circulation. • Car seats: Some children with ASD and other developmental or behavioral issues figure out how to unlock their seatbelts and do so while the car is moving. I have

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had patients who even opened the car door while it was speeding down the highway, a frightening time for the adult driver. There are devices that can be put over the seat belt closure, making it much harder for the child to unlock him or herself. Room dangers  Some children with ASD are climbers and will figure out any way to get up higher. Everything in their bedrooms should be mollied to the wall, including dressers and bookcases. Use overhead lighting and not lamps with breakable bulbs. Family rooms may need to be modified if the television or computer screen is up high enough and fascinates the child. Anything that can fall will. Mouthing  Some children with ASD mouth objects long after this is a normal behavior for an infant. Some lick walls or furniture, and not just at home. Some children will put any nonedible object in their mouths and avoid eating food. Prolonged mouthing, especially in a high-risk situation for lead exposure, should lead to annual lead testing until the behavior resolves. Foreign body aspiration remains a risk much longer for this child. Animals  Children with ASD do not hurt animals on purpose, unless they have another diagnosis such as conduct disorder. Children with ASD can definitely hurt and be hurt by animals accidentally. While most animals move away from a child having a meltdown, if they don’t, they can get injured. Children with ASD can be hurt from not understanding that they cannot touch any animal they see. They may even know a rule such as “Don’t touch any dog you see on the street,” but being able to inhibit the impulse to touch may not develop until later. Stranger danger  This is the most difficult concept to teach children who have an impairment in social knowledge. They would not think that the other person does not share their point of view, or could even mean them harm. Both “stranger” and “danger” are abstract ideas. Robert tackled the problem of his saying “hello” to strangers. He went up to unfamiliar adults and said “Hi, my name is Robert. What’s yours?” He then turned to his mom and announced that this person was no longer a stranger. I have suggested that parents play a game with a child in public. The parent can point to a person and ask, “Friend or stranger?” and give the child a penny or a token for the right answer. Stories and videos can also be helpful for teaching and reinforcing this concept.

 tandardized Testing and Reducing the Need for Psychotropic S Medications In order to help parents have appropriate expectations for their child, you need to know their level of understanding language, problem-solving (cognition), and adaptive skills (how they function in everyday life). Standardized testing is an essential

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part of data collection to help understand the child with ASD and to develop appropriate expectations. Countless times in my clinic, parents or teachers have been overshooting the child with ASD’s cognitive or language abilities, and the family presents with a child with challenging behaviors. There is a belief in some communities that it is “not fair” to test a child’s IQ or language abilities if they have ASD. I disagree. In fact, standardized testing is the best leveler of the playing field. Every child is treated exactly the same way, given the same materials, and asked the same questions, using the same words, given the same time. Nothing could be fairer. People need to realize that standardized tests are not designed to find a child’s best performance but to find how the child’s performance compares to other children the same age in exactly the same situation. This is exactly what a classroom is like: how is this child going to do with other children their age? Children with ASD may have an uneven developmental profile, with strengths and weaknesses. Cognitive and language testing can help us understand what these are. Many children with ASD have “amazing memories” for things that interest them. They can remember most of what is needed in K–2nd grade. They may be early readers, using their great detailed visual memory to learn sight words and not typically phonics, early on. Unlike most children who understand and use language at the same level, the child with ASD may have a higher expressive language than receptive understanding of language. Since we often base how to talk to children on their verbal language, this can overshoot the child’s capacity and set them up to not cooperate and experience failure. Any kind of standardized cognitive testing before the ages of 6–8 years may not be predictive of the future. By the time children are in this age range, IQ scores tend to have more predictive value and are less likely to change dramatically. Our psychologists do not diagnose an intellectual disability until the child is at least 6 years old. That diagnosis requires two components: an IQ score AND a measure of adaptive skills. Usually, children’s IQ and adaptive scores are in the same ballpark. A child with ASD may have a much higher IQ than their adaptive level. It is the adaptive score that helps us understand why so few children with ASD and average IQs have a good outcome as adults. IQ and language testing can and usually should be done before 6 years, but the data cannot be used to help the parent predict the future. Nothing really predicts the future, of course, but parents are usually helped by some estimate of what they are likely to have to do when their child grows up. Whenever a child presents with autism spectrum disorder and challenging behaviors, one of the first things I wonder is whether adults are expecting the right level of abilities. I have had 8-year-olds who are cognitively at a 4-year level being given second or third grade math problems. I often hear that a child is an “early reader” and quite able to decode and say the words but has limited comprehension of the story or lesson. It may be fun for the child to read aloud to the class, but we must not mistake reading with understanding. We MUST meet children where they are at this moment, in order to have appropriate expectations, and one of the best ways to know is to get cognitive, adaptive, and language testing done by professionals

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trained to do this (childhood-trained psychologists for the former, pediatric speech and language pathologists for the latter). I believe that standardized testing leads down a pathway that avoids the need for some psychopharmacology. If we are attentive to the child’s level of understanding and the need to create success many times per day, we can avoid at least some of the children who “need” medications for behavior. If we do not address the reasons for the behaviors, we risk exposing children to long-term use of medications. Once parents, teachers, and doctors have done the above, and challenging behaviors persist, then the behaviors may be the result of a child’s biology or degree of severity of their autism, which can be addressed medically. Parents are usually more willing to undertake the use of meds, if they know they have done everything else possible first.

Box 16.3 The Controversy Over Standardized Cognitive Testing/IQ Tests: There are many ways that standardized cognitive testing has been misused. For the best and most interesting historical account, please read The Mismeasure of Man by natural historian Stephen Jay Gould [2]. He traces the misuse of such tests, which have been used to institutionalize unwanted children, which have been given to people in languages foreign to them, and which have asked culturally inappropriate questions as part of the testing. There has also been a push-back on standardized testing by parents of children with ASD, who rightly feel that these tests do not consistently uncover the significant strengths that can be present in people with ASD. This has led to an extreme position voiced by some that “IQ tests should never be given to children with ASD.” IQ tests do not find a child’s best performance. They do see how a child performs compared to other children their age at a point in time. This is exactly what a classroom is, and the information can be extremely beneficial to help create the success the child needs and possibly avert chronic, disruptive behaviors.

References 1. Bauby JD. The diving bell and the butterfly: a memoir of life in death. Translated from the French by J Leggett. New York: Vintage Books; 1998. 2. Gould SJ. The mismeasure of man. New York: WW Norton & Company; 1996.

Chapter 17

Primary Care Issues by Age

The primary care provider is the critical professional, who can create a medical home for patients with developmental disabilities and other complex medical needs. The medical home provides a central place for the comprehensive and compassionate care we want for all our patients. You create a partnership with the family, to coordinate medical and non-medical services into an overall health plan for the child, as well as provide health maintenance activities and preventive care services, which chronically complex children can miss. Much has been written about the medical home and its central importance in the long-term care of these patients. That literature is not reviewed here. Instead, this chapter focuses on common problems that present themselves in three age categories: 0–5 years, school-age years, and adolescence.

 arly Issues: Vision and Hearing, Sleep, Diet, Constipation E and Toilet Training, Tantrums, Dental Care, and Epilepsy Hearing/vision  You most likely checked the child’s hearing if they first presented with speech delay. While this is both reasonable and necessary, children who are deaf are very different than children who have ASD.  You could have both, and a disproportionate number of deaf or blind children also have ASD. Children with ASD may have times when they appear deaf. They do not turn to their names or sometimes even respond to loud environmental noise. They can be very self-contained.

© Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_17

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Story Angel was an 18-month-old boy, who was fascinated by a stacking toy I had in the office. His parents and I sat on the floor next to him and tried to get his attention. He did not turn to his name nor to finger snapping by the dad. He did not blink to visual threat. He did not look at me or his parents. I took out my car keys and rattled them behind him. No reaction. I was very concerned about his lack of any reaction to sound. His hearing was tested and was normal. He had autism.

Children who are deaf are visually alert to their environment. They are seeking cues about what is happening, which means that they attend to adults and their environment. Parents who think their child appears deaf at times also may describe times when the child can hear a favored theme song from across the house and come running to see the TV. Clinically, deaf and autistic children present very differently. About 10% of children who are congenitally blind also have ASD. There is speculation that this may be related to missing visual cues during a certain developmental window and perhaps missing facial expressions or social cues that lead to this excess of ASD in blindness. Children with both autism and blindness are very hard to treat because curricula for ASD focus heavily on visual strategies, such as picture schedules and visual over verbal learning. Autism is found at an increased rate for both deaf and blind children. For all young deaf or blind patients, monitor for the possibility of ASD and provide anticipatory guidance for parents about the importance of developing social interaction skills. Poor Sleep  “He hasn’t slept through the night for 5 years and neither have we.”— Parent of a child with ASD. Falling asleep and staying asleep can be extremely difficult for children with ASD. Sleep is likely something about which you provide anticipatory guidance. You may actively discourage co-sleeping. You regularly endorse good sleep hygiene and routines. Of course, a good history can lead to concern for OSAS or other sleep disorders, which can occur in any child. I won’t review the literature for the typically developing child. I would like to talk about the otherwise healthy child with developmental vulnerabilities or autism spectrum disorder. Whether parents have any diagnosis or not, they know that something is different and vulnerable about their child. They may feel guilty if they try to leave the child in their crib or return them, crying, to their room. This child, who may not pay much attention to the parent in the daytime, wants to snuggle at night. The world is dark and quiet and possibly more relaxed. The child, who may be anxious, may want reassurance at night. The parent may be eager for this closeness that they don’t always get during the day. However, it causes chronic bedtime and sleep issues and is best if dealt with early in the child’s life. I have had a few parents who have decided “children will not be in our bed” and consistently reinforce this house rule from the beginning. They are rare, but let us

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know it can be done. Most come in like the quoted parent above and really have no idea how to change the nightly visitations or screaming. Children with ASD may have two problems with sleep: (1) sleep initiation and (2) sleep maintenance. It can seem very hard for the child with ASD to shut off their brain. Many children with ASD have co-occurring anxiety, which is another factor that keeps them awake. Some children with ASD do not experience a melatonin spike at bedtime that is most easily remedied. Looking at books before sleep is not as sleep-disrupting as having any kind of screen open in the hour before bed. A computer, tablet, or TV they can work with should not be in their rooms. Look for sources of hidden caffeine that the child may have before bed. Before I recommend a consistent bedtime program, I tell parents that any change will take much longer than they think it should and that changing the sleep patterns of a child with ASD is similar to changing one of the child’s rules. I want them to be willing and able to not sleep well for at least a few (more) days. When parents are ready, we develop a plan together. Some vulnerable families, who have tried the “let him scream it out” method, have run into trouble with neighbors calling Child Protective Services. So the parents have to be able to tolerate some loud crying (possibly screaming) for a few nights, after which things should improve. I have encouraged some parents to alert neighbors that they will be starting a sleeping program and that screaming is likely for a few nights but then will improve. Some families cannot allow the child to scream because of the possible consequences. I like the method I saw on Supernanny, which I will summarize here. Supernanny was a reality television show about ineffective parenting and out-of-control children, into which a Mary Poppins-like figure enters and fixes most things. The episode I am recounting involved a toddler, about 22 months old, who kept getting out of bed to go find his Mommy. Mom wanted to put an end to this. Supernanny asked mom to do the following things: 1 . When the child comes out of the room the first time, put him back in bed. 2. If he gets out, pick him up from behind and put him back in bed. 3. Do not talk to him or look at him. 4. Do not feed him or give him a drink. 5. Sit in the doorway of his bedroom with your back to the door. 6. Repeat step 2 as many times as needed. Although exhausting to watch, the child eventually fell asleep. If he gets out again, repeat the procedure. The first night took many, many trials. The second night fewer but was still hard. The third night was better. By the end of the week, everyone was sleeping in their own beds. If parents say that they do not have the energy to try this program, that is life. My highest priority is that everyone in the family gets enough rest, whatever that takes. No one functions well without enough sleep. The child and the parents are more irritable and both more likely to have meltdowns the next day. I ask parents not to try this method if they do not think they could do it for 4–5 nights. If they start and give up, it is much, much harder the second time around.

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Feeding Nursing  The very first job of a new parent is to feed their baby. In this day and age, most new mothers want to nurse, and most do fine. I hear from a higher than expected number of mom’s with children with ASD whose babies did not latch and suck as desired. Moms will persist for a few days to a few weeks, but if the baby isn’t gaining weight, they will rapidly switch to bottle feeds either of pumped breast milk, formula or some combination. If you hear that the baby did not latch and suck well, there are a few things to check. Remember that a good suck/swallow covers five cranial nerves: V, VII, IX, X, and XII. Use a gloved pinky to feel the strength and rhythm of the suck for yourself. A normal suck has a pattern of good latch and rhythmic sucking that builds in strength and then lessens. If watching mom use a bottle, watch and listen. A noisy suck is often the baby losing its grip on the nipple and re-attaching. The baby should not leak formula from the mouth. Coughing or choking during feeds could represent aspiration from an uncoordinated suck/swallow. Babies with these kinds of issues may have a variety of neurodevelopmental issues, not necessarily autism. Some poor feeders turn out fine. It is a “pink flag” that should alert you to the increased risk of neurologic impairment. Food Intolerance  The next feeding history I hear about is that when children with autism were infants, introducing solid foods was a challenge. Stage 1 foods usually go well, but once texture is added to foods, children with ASD can have a sensory aversion to texture. This can be a severe rejection. Medically, doing a swallow study can rule out or discover aspiration. If you have access to a multidisciplinary Feeding Clinic, your family may get assessments from a speech and language pathologist, occupational therapist, dietician, developmental pediatrician, and child psychologist. If you do not, I would start with a consultation to a pediatric-trained speech and language pathologist, who is trained in oral mechanism and swallow anatomy and function. Some children and mothers are very reluctant to give up nursing. It is important to see if the child nurses for nourishment or for self-settling. It is not uncommon for me to hear that mothers nursed far longer than they expected to because of the calming effect this had for the child. Never discontinue comfort nursing without first teaching the child another self-settling technique. Once the child has another strategy for self-calming, the child can be weaned. The parent can start by pairing nursing with a special stuffed animal, blanket, or specific music that is only used for sleeping. If the child can find comfort from these alternatives, then weaning can begin. Some do well with baby foods and do not transition easily to table foods. Food intolerance, differing between children, is a very common symptom in this population, which contributes to the development of constipation. For some children, food challenges do not emerge until 18–24 months, when a previously good eater develops rules about eating.

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Some children are affected by colors and refuse green foods or prefer white foods. Smell, temperature, and taste can be factors in food acceptance or rejection. I’ve had patients who have to have room-temperature foods and, others, cold foods. Sometimes this stems from learning that food can be too hot, and therefore, hot is bad and not to be eaten. Others love spicy foods. One child I saw would eat almost anything so long as he had a specific brand of ranch dressing for dipping. While most typically developing picky eaters can be encouraged to broaden their horizons with rewards or social praise, children with ASD have an intensity to their refusals that convinces most parents that there is real discomfort involved in trying to eat some foods. Wise parents do not go head-to-head with children around this orifice. Rewarding eating something new or other positive feedback is always preferred to insisting a child eat something. Insisting a child eat something is another way for parents to set themselves up for failure. Both parents and children should be set up for success. One mom told me that she felt it was disrespectful of the child to insist he eat something that was very distasteful to him (see Chap. 14). What to do  Some picky eaters do not need intervention; some picky eaters have abnormal weight gain (too much or too little) or develop unusual or at least unexpected vitamin deficiencies such as scurvy (a case at our hospital). There are better and worse ways to address limited diets. So long as the child understands “if-then” contingency statements, then the parent can develop a reward system for trying a new food. While we try as healthcare providers not to use dessert as the contingency, it is a last resort that is OK under certain circumstances. Good portion control on the sweets can help reduce the impact of this reward on health. An understanding of if-then emerges from 18 months on for children with typical development. Check with the parent as to whether a child with ASD of any age understands this idea. Some parents say “take three bites and then you can be done” or use some other numerical concept. Check number concept with parents by asking if the child could “bring me three apples.” Many children with ASD can recognize the number “3” or count to 3, without understanding the idea of “3.” I do not advise the behavioral strategy: “You don’t have to eat what we eat, but I am not giving you anything else.” While that might work with an appropriately oppositional 2-year-old, who will eventually eat, I know children with ASD who have gone for 3  days without eating and outlasted the most committed parents. Remember, we can’t control this orifice, so we should do our best, but without parental mandates that can’t be enforced. Obviously, “You have to eat that” does not work at all. If the parent wants to stop one or two foods such as orange snack foods or sugar cereals, they can, by getting these things out of the house completely. An older sib can’t have access to this in the house or in eyesight of the child nor can parents. If the child with ASD sees the food, they will tantrum until someone gives it to them. If the food is gone completely, they will eventually live without it. Advise parents to not take them to the grocery store during this adjustment period.

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It might be a better strategy to use a favored food as a reward for certain behaviors. In-home behavior programs have used M&M’s for years to reward the desired behavior. “Sit down” if followed got one M&M. They use this because it is immediate and concrete, and the reward is something the child likes, and it can be given many times per day. Many programs are moving away from this strategy, but it can be a place to start. In my own version of “portion control,” I recommend that parents buy whatever size of snack is most desired and economical, but then put three snack pieces in a small, inexpensive food storage bag. Tie it with a ribbon or twist tie and put the little packages in a larger jar or container. When the child earns a snack, they can pull ONE bag out of the jar. I mention this because I have in my life said to a parent, “You gave him the whole bag of chips?” I believe that one reason children with ASD may appear to gain a benefit from specific diets do so because the parent regains control of the diet, where the control belongs. There is generalized better behavior in other areas. Overeating  Overeating is a concern for some families. I have had a few patients who do not seem to have a sense of satiety or being full. This does occur in some genetic syndromes like Prader-Willi and also in children on some psychotropic medications, like the second-generation antipsychotics. This requires multiple fronts: 1 . Reduction in portion, with very clear and consistent limit setting 2. Availability of healthy snacks 3. Busy schedule of other activities 4. Anything that increases physical activity (see Pokémon Go) 5. Limiting undesirable food in the house 6. Consistent attention to empty calories (sugar beverages, sweetened fruit juices) 7. Finding non-food rewards 8. For older children, looking for signs of mood disorder If parents are overweight, there may be genetic or epigenetic factors (mothers who gain excessive weight during pregnancy have children at greater risk for obesity). As we all know, this is a problem for our country but with even fewer options for the child with ASD.

Constipation and Toilet Training Constipation occurs in up to 50% of children with ASD [1], although the percentages can vary widely in articles. Rarely an issue in the first days of life, constipation can begin as early as the first year, as solids are introduced and sensory issues of the child with ASD may emerge. Many children with ASD have mild hypotonia, a contributor to constipation. Low tone with core weakness could decrease the use of abdominal muscles.

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Children may have decreased body awareness, leading to impaired knowledge of full bladders or rectal vaults. I think one of the biggest contributors to constipation is the need of parents to have their children toilet trained by a certain age. Parents get pressure from their parents. “Why isn’t he toilet trained?” questions make parents feel it is their duty to try to make children use the toilet. Also remember that everyday living skills may lag behind cognitive abilities, so “That child is smart enough to be toilet trained” is not a valid reason for pushing this agenda. It can also be very helpful if you remind parents that they do not control any orifice in the child and that insisting that a child use an orifice is setting up both the parent and child for failure and frustration. Once it becomes a battle, the child with ASD can become more resistant. The child does not see the reason for interrupting their play to do something they do not want to do because it does not bother them. They do not do things because of social motivations, like pleasing parents. They do things because they want to do so. If the child is not ready or does not want to use the toilet, the result may be withholding stool, which the child with ASD can do with amazing persistence. Preventing constipation with early acknowledgment of the above factors and supporting parents to wait to toilet train is the best way to avoid the pathway of chronic constipation, megacolon, and encopresis. Much has been written about toilet training for children with ASD. In fact there is a book by Maria Wheeler devoted to this topic [2] and several good websites about approaches to toileting. I believe that the best and least likely to cause anxiety and secondary constipation is to wait until the child shows signs of readiness. If parents can wait, it is usually the quickest. Children who are ready: 1 . Are aware of peeing and pooping 2. Show interest in watching others use the toilet 3. Request a change, verbally or nonverbally, by bringing a diaper to a parent 4. Have access to stable seating 5. Have the ability to raise and lower underwear and pants 6. Ask questions about toileting Children who are NOT ready include: 1 . Children who are totally unaware that they are wet or messy 2. Children who are not bothered by being wet or messy 3. Children who routinely resist dressing or changing clothes 4. Children who actively do not want a diaper change 5. Children who do not have some basic undressing and dressing skills It is VERY hard for parents to wait, especially if there are grandparents pushing for toilet training to begin. If you as their PCP give them permission to wait, that can help with pressure from relatives. You explain developmental readiness and how much more easily the process will be if they wait for the child to be ready.

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I would encourage leaving out books or videos on toilet training for the child to find. It is always more effective if the child believes they have found the book themselves and it was not something parents were pushing on them.

Story One of the cleverest reinforcement programs came from a dad, whose son eventually received an ASD diagnosis. But when the child was nearing his fourth birthday and was not toilet trained, the mother’s anxiety soared. They had been trying for almost 2 years, finding no success with multiple methods. The child was a videogame player from an even earlier age, and computers were his passion. He had a number concept at least to 20, so parents started to assign stickers for sitting (1 sticker), peeing a little (2 stickers), peeing a lot (3 stickers), and pooping (4 stickers). Nine stickers got him to win a video game (at the time in the $5 range). They got his attention and he started to win, using this passion. Then he started to win too often. The dad told him: “That was Level 1. Level 2 needs 12 stickers.” The mom did not think her son would buy it, but the child totally understood the level system. By the time they got to Level 3 (15 stickers), he was done with diapers. Remind parents that attaining nighttime dryness is a normal, developmental process that we do not consider possibly pathologic until the age of 7. Sometimes, a child with ASD will respond to the same, relatively easy strategies you use for all children: underwear, being a “big boy” or “big girl,” and being “like your friends.” But more typically, parents will have to work outside that box: 1 . Use reinforcers that involve their passion. 2. Use a potty or toilet that fits the child and does not scare them. Usually a stable potty chair, or foot stool, seat inserts, and hand rails for the toilet will help. 3. Avoid public restrooms with automatic flushers, at least for this initial period. We do not want to have the child associate using the toilet with fear. 4. Make a series of photos indicating the steps (a visual strategy) and point to the one that is next. Toilet training is complete when the child initiates going to and using the toilet for its intended purposes. Wiping might come later because of lack of body awareness, sensory issues with toilet paper or cold wipes, and unwillingness to put their hands near something “dirty.” Most of my patients were toilet trained by age 5. If the child is 5 or older, or because of the degree of disability, unlikely to be toilet trained in the near future, I recommend a strategy called “habit training.” This involves the parent having a schedule for toileting, when the child is placed on the potty/stool on a timed basis. Using the gastrocolic reflex can get some children to have a bowel movement in the 5–10 minutes after a meal. I have had a few severely disabled patients who are successfully dry on a timed toileting schedule. Suggesting timed toileting can feel like

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a defeat for a parent. One of our basic jobs as parents is to have our children socially acceptable in this way. Failure to do so means we are failures as parents. Remind parents that timed toileting does not preclude actual toilet training at a later date. Summary advice on toilet training the child with ASD: 1 . Encourage the parent to wait for signs of readiness. 2. Remember that everyday living skills are often delayed in ASD. 3. Prevent worsening of chronic constipation by avoiding pressured toilet training. 4. Remember that no one controls an orifice except the child. 5. Build in positive rewards for using the potty, when the child is ready for this big step.

Box 17.1 Immediate and concrete rewards work best for the child with ASD. Children with ASD often live in the present moment, as do most young children, and cannot collect stars over the week and wait for some future reward. Use something from their biggest passion: Thomas the Tank Engine stickers or a page from a coloring book or even a disassembled real book from a dollar store. Although we try to avoid food rewards, there are times when that may be the only motivating tool for a particular child and is not contraindicated in ASD. Use whatever strategy you have learned about stool softening and passage, which may include probiotics, osmotically active OTC treatments, and taking advantage of the gastrocolic reflex, with a good schedule for sitting and appropriate expectations. Tantrums  (Also discussed under Effective Parenting) Tantrums are part of typical development, so when they occur in the toddler with ASD, it can be very hard, sometimes impossible, to tell the difference between a typical and autistic tantrum. Typical tantrums can start around 18  months and peak between 2 and 3. The psychological job of a child this age is to “individuate” or separate themselves as a person independent of the primary caretaker. This is, of course, why the period has been called “the terrible twos,” and why the favorite word is “NO!” When working with children with developmental delays, we have to remember that a 5-year-old who is developmentally at a 2-year level can also have tantrums that are developmentally appropriate. Young children with ASD can have both typical tantrums and also have bigger tantrums, often called meltdowns by their families. The triggers for the meltdowns can be over something very small, in the eyes of the parent, but very big for the child. Some of the triggers may include the wrong food, food that has the wrong temperature, a parent not having the blueberry muffin that they MUST have for breakfast, a parent trying to substitute another brand of anything, not being able to watch or play something they expected to, any change in the schedule, having to

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abruptly leave a favored activity, an unexpected noise, and any of hundreds of things that are usually specific to that child. The larger category is anything that violates one of the child’s rigidly held rules. This is a child in distress. They do not understand other people’s needs or why they should do what parents say. The broken rule can make it seem as if a child’s entire world is falling apart. To them, it may feel this way. Remind parents of the 4 Cs. Appear calm in the face of the storm. Keep any directives very short (concise) and clear. Wait it out. If this happens to occur in public, the parent must remove the child from the area and return to the car or stroller. Behavior therapists recommend the practice of extinction. They use radical ignoring of the child and his or her behavior. While that is best and most effective, there is no way a parent, in public, can use this. The parent has to respond to the child’s behaviors. They have to keep the child safe as well as strangers who might get in the way. Removing the child from the situation is paramount. Leave the full grocery cart. And be consistent. Dental  Pediatric dentists are trained to work with children with developmental disabilities, including autism. Most understand the anxieties and sensory needs of these children and allow for gradual desensitization appointments that can be very successful. Pediatric dentists can sedate children who cannot have dental work done while awake. Sometimes pediatric dentists are not an option, but you can work with a family dentist, explaining what you know works for your patient. Virtual tours of the office are visual strategies that help reduce fear. A list of steps in words or photos that will happen can be given to the child who can check off each step, so they can see their progress towards the end. A social story (a brief summary of what will happen) was created by dentists [3], which illustrates this idea. Some children benefit from knowing why they need to have their teeth cleaned and like knowing the details of dental anatomy. Information can be power. If the dentist offers rewards like stickers for cooperation, please make sure this is reinforcing for the child. A child who gets train stickers, who doesn’t like trains, is not as likely to cooperate. We want to increase the chance of success as much as we can. Parents might think about bringing the right reward. Seizures/epilepsy  The lifetime risk of seizures in people with ASD is between 30% [4] and 20%, a more recent figure [5]. The rate of epilepsy in people with autism is likely to decline further, as more mildly affected people, who are less likely to have epilepsy, are diagnosed with ASD. Besag speculates that the rate of autism in patients with epilepsy, statistically more impaired, is likely to grow. In an article on the history of autism and epilepsy, Tuchman et al. [6] note that autism was tied to epilepsy in Leo Kanner’s original description in 1943. Articles that date back to the 1960s were the first to suggest that autism was a disorder of brain function. The increased rate of seizures helped lead specialists away from a psychological explanation of autism towards a brain-based understanding. However,

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specialists trained during that time may have thought of ASD as a psychological disturbance and not a neurodevelopmental condition, and it is hard to know how well-known or accepted this relationship was at the time. There are two peaks for developing seizures: in early childhood and in adolescence. There is an increased risk of partial complex epilepsy and infantile spasms. Children with ASD and lower cognitive abilities are more likely to have epilepsy than other children with ASD. Tuchman dates the discussion about whether abnormal electrical activity in the brain could cause autism to the 1970s and 1980s.Questions about the role of abnormal electrical activity in the development of autistic regression date back to those decades. Tuchman and Rapin [6] studied 585 children with ASD and found no correlation of epilepsy or epileptiform EEGs with whether the children had language regression or not. I remember this article as putting to rest, for me, the notion that epilepsy would cause autistic regression. It is probably more likely that, just like all other neurodevelopmental conditions, whatever affects brain development can lead to both epilepsy and autism.

 chool-Aged Issues: Anxiety, Inattention, Friendships, S Handwriting and Fine Motor Delays, Working with the School or Homeschooling, and Community Activities Once a child with ASD is in school full time, from kindergarten or first grade and on, several issues emerge during elementary school: inattention, anxiety, developing friendships, difficulty with handwriting, and transitioning from therapy-centered to community-centered activities. Other medical issues (constipation, obesity, insomnia, hypotonia, and epilepsy) may persist but are covered in the previous section. Inattention  Teachers may tell parents that their child is “very inattentive,” perhaps with the concern that a child may be developing “ADHD inattentive subtype.” Even in typically developing children, inattentive ADHD requires ruling out: 1. Hunger/food insecurity. 2. Sensory issues (in this case meaning hearing and vision). 3. Chronic illness or discomfort. 4. Mood disorders (anxiety, depression). 5. Psychosocial issues (family stressors, financial or emotional). 6. Possible abuse (physical, emotional, or sexual)—this will rarely come out without direct questioning. I would say “I have to ask about whether you and your child live in a safe environment, to be sure we aren’t missing anything.” I was surprised by the number of positive answers and troubling stories.

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While a child with ASD can also have ADHD, there are many other causes of inattention that occur as a consequence of autism: 1. Impaired social awareness: Children with ASD may not know they have to listen to and follow what teachers tell them. They may know the rule “listen to the teacher” but may not be able to operationalize that. 2. Self-directed thoughts: Children with ASD do and think of what interests them. They may have learned to sit still but may be thinking about their passion. 3. Language level: Children with ASD may have lower receptive than expressive language, which means that they may not understand what the teacher is saying. Or their language processing can be slower than expected, leading to missed instructions. Language testing is very valuable here. 4. Complexity of material: Sometime in 3rd–4th grades, academic material moves beyond anything a child can remember by rote and becomes more abstract. For the concrete and literal child with ASD, abstract concepts in language and math can be elusive, and the child may tune this out. I’m sure we all do this at times— If I don’t understand what a speaker is saying, I stop listening. 5. Cognitive development: Children with ASD may also have borderline to impaired cognitive or intellectual impairment. IQ testing can help parents and teacher adjust their expectations to meet a child’s ability. Attention can improve as a result. 6. Working memory: Some children with ASD have impaired working memory, the ability to hang on to one instruction or piece of information while another one is added. This can make it hard to follow multiple step instructions and also can be discovered during cognitive testing. 7. Sensory issues: If a classroom is too chaotic or noisy, or if there are stimuli that are distressing or do not get recognized, a child can appear inattentive. 8. Anxiety is a cause of inattention. 9. Or, of course, they could meet criteria for ADHD inattentive subtype. I draw the a diagram for parents so they can visually see the complexity of the issue (See Figure 12.1). Treatment of Inattention  This depends, of course, on the cause. There are school-­ aged children with ASD and symptoms of ADHD who respond to stimulant medication. The percentages are not as high as for ADHD alone, but there is not yet any way to tell who will respond and who will not without a trial. I used to try to do double-blind placebo-controlled trials. Not only were these very labor-intensive on my part (getting a pharmacy to create a Med A and Med B and labeling it as such and instructing parents, getting some kind of form back from parents and teachers) but parents could tell whether or not the child was receiving stimulants by whether they ate lunch or not. Parents were rarely blinded. Then I ran into split custody, where one parent would give the med and one wouldn’t. Because you probably treat ADHD, you may have your own way of conducting a trial, but for those who are interested, this is how I have initiated stimulant medications:

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1 . Make sure parents want a trial of stimulants. 2. Find out if the child can swallow a pill or capsule. (There are liquid forms and patches, but some preparations are not covered by insurance.) 3. Try 1 week at 0.5 mg/kg/d of methylphenidate equivalent, and if no dramatic positive or negative response, try week 2 at 1.0 mg/kg/day. 4. Start the med on Saturday, so parents can see for themselves what happens on the first 2 days. 5. Try not to tell the school, because they are the only blinded observers possible. Some parents will tell the school nurse and ask her not to tell the teachers. If there is a dramatic response, parents will get a call by the end of the week, asking if something has changed. Please see the section on medication treatment (Chap. 12, section “The Role of Medications in ASD: Evidence-Based, Commonly Used and Emerging”) for other possibilities. Anxiety  Anxiety is part of the autism spectrum, as it the rare child with ASD who does not experience anxiety. Anxiety can also be thought of as a co-occurring condition. The prevalence of anxiety disorders in those with ASD varies between 30% and 81%, with 40% of children with ASD meeting DSM-IV criteria for anxiety disorder [7]. Anxiety can be generalized, triggered by social or behavioral expectations, ­sensory inputs, or social situations. One may see panic attacks triggered by a dog barking, breaking one of the child’s rules, or physical restraint. The fight or flight response can be experienced many times a day, in many predictable and unpredictable circumstances. Imagine feeling near a state of panic for a large part of each day. This is stressful for the child and for children and adults around the child. The child with ASD can react with a variety of behaviors, not all of which we associate with worry or fear. When a balloon pops unexpectedly, and the child with ASD screams and runs out of the room, one can more easily tell what scared him. But some fear reactions are harder to read. Sam would fall to the ground every time someone said “Hi, Sam!” Jason was seen as oppositional to requests, but those requests caused extreme anxiety, which led to refusal. Sarah seemed to ignore requests and shut down when she felt anxious. It is known that there are “idiosyncratic behavioral expressions of anxiety in this population” [8–10]. Although many exceptions exist, boys tend to externalize/act out, and girls tend to internalize/shut down. Either reaction can be related to feelings of anxiety. Several factors influence the intensity of a child’s anxiety: Interactions with parental anxiety  Many parents of children with ASD have their own symptoms of anxiety. An anxious child reacts to a stimulus, and that makes that parent anxious, too. This spirals into an escalating anxiety storm, to which only the adult can respond effectively. The adult has to learn how to not show their feelings to their child, act calmly, and deal with their own feelings later.

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Escalation  Factors besides adult anxiety can lead to escalation of unwanted behaviors. Adults moving physically too quickly or too closely to the distressed child can worsen a situation. Going head-to-head with the child, and insisting on a particular response or behavior, is usually not productive and can make the situation worse. De-escalation is the goal. Restraint  No child should be restrained unless they are posing an imminent, serious threat to others or themselves. If adults can de-escalate a situation, then restraint will not be needed. Restraint can cause a severe degree of panic, which leads to as much fight or flight as that child can exert. Intolerance of uncertainty  Predictability relieves anxiety and unplanned activities or changes in the plan can trigger stress.

Specific Types of Anxiety Disorders Obsessive compulsive disorder  There is much debate in the literature about whether the repetitive behaviors, rule-bound behaviors, and intense interests seen in autism can be conceptualized as “OCD.” People with OCD can have repetitive behaviors, rigidly held rules, and special interests. Knowing more about this relationship would lead to choosing more effective therapies. Before DSM-5 (2013), people with autism were not supposed to be diagnosed with OCD, but that recommendation was revised. “Obsession” is a cognitive process, and “compulsion” is a behavior. “Obsessions cause anxiety and compulsions alleviate anxiety” [11]. There is increasing interest in the relationship between OCD and ASD and disagreement about whether the types of RRBs in autism are similar to those seen in OCD. People with OCD usually see their symptoms as a problem, whereas children with ASD may see their focused interests as a source of happiness and pride. There are three types of restricted and repetitive behaviors/RRBs in ASD: 1 . Repetitive sensory motor behaviors (hand flapping, spinning objects) 2. Insistence on sameness (adherence to rules) 3. Restricted interests, which is considered an RRB in DSM-5 Younger children with ASD who are lower functioning tend to have more sensory motor behaviors, and older children with ASD who are higher functioning tend to have more insistence on sameness. The repetitive sensory motor behaviors are not as clearly linked to anxiety as the other types of RRBs. However, it seems clinically that children with ASD who are stressed out, as in an office visit, demonstrate a lot of their sensory motor behaviors. This could be related to hyperresponsiveness to environmental sensory experiences. I have seen both intensely happy feelings and intensely stressed feelings associated with RRBs. Sometimes parents say “He only does that when he’s excited,” which is

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not relevant to making the diagnosis. The presence of hand flapping is a positive sign of ASD and gets a check in the diagnostic criteria. Insistence on sameness does seem to be linked to anxiety. Insistence on sameness might be a response to feeling anxious (Jiujias) [7] and may be adaptive and helpful to the individual, so insistence on sameness could be an anxiety-reducing technique in ASD. Similarly, compulsions relieve the anxiety caused by obsessions in OCD. Impairments in cognitive flexibility affect both people with ASD and people with OCD. The RRBs that are sensory motor behaviors in ASD become less frequent over time. The RRBs such as insistence on sameness in ASD and obsessions tend to persist into adulthood. Separation anxiety  Children with ASD can definitely have separation anxiety from the parent who knows them the best. If this occurs in a child who also has speech that is difficult for nonfamily members to understand, remember that the parent, whoever is with the child the most, is that child’s interpreter to others. Many children know this and need that parent to interpret their wants and needs to others. Children with ASD are attached to their parents, and many see parents as the best “safe zone,” especially when in an unfamiliar environment. I have not had many children with ASD tell me that they worry about something happening to their ­parents, a common feature of typical separation anxiety, but some do, and it is worth asking the verbal child about these thoughts and feelings. Specific phobia  This is often associated with an unwanted or unexpected sensory experience but can then be generalized to all dogs barking, all public hand dryers, or all sirens. Desensitization programs can help reduce the intensity of the fear. Social anxiety  Not all socially anxious people are on the spectrum, but most children with ASD have social anxiety. Social anxiety is very common for relatives with the broader autism phenotype. Ask about social anxiety in the family history. Agoraphobia  Described as the “fear of open spaces,” agoraphobics may tend to stay at home or in a safe place rather than venture out. Some adults labeled as agoraphobic actually have social phobia, which obviously looks the same to the outsider. A specific type of agoraphobia is seen in Japan and is called “hikikomori.” About a million adolescent and young, mostly, men in Japan retreat into their bedrooms, play video games, and will not even come out to eat. Mothers leave trays of food by the doorway. Adverse life experiences, sense of failure, depression, and anxiety all contribute to this withdrawal from the world. It would be reasonable to think that some of these young men have social phobia and/or an autism spectrum disorder. Treating anxiety  The treatment of anxiety represents an extensive literature exceeding the bounds of this volume. There is a nice review of treatment of anxiety in ASD by Moskowitz [10]. The ABC method can be used here (see Chap. 16) where A is the antecedent or trigger, B is the behavior one sees, and C is the contingency, or how others respond to the behavior. To reduce anxiety without medica-

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tions, encourage parents to alter the child’s environment to not elicit the anxiety, as much as possible. Try very short exposures to anxiety-producing experiences, and if those are successful, increase the exposure gradually. Managing adult reactions to a child’s anxiety can also modify the intensity and duration of distress. Remind parents that their adaptations, and often avoidance of things that parents want or need to do, are needed now but may not always be needed, as the child grows and changes. (See Chap. 12: Treatment for Older Children) Friendships  Children with ASD struggle to make and keep friends. Reciprocal relationships of all kinds can be hard, but it is hardest with same-aged peers, who expect to be met half-way. The lack of social reciprocity in autism means that the child may not see anything from the other person’s point of view, which makes sharing an even more difficult concept. Children with ASD might be comfortable with adults, as adults are more flexible and willing to go further than a peer. Adults are also very predictable, while children are not. The ability to make and keep friends is by definition impaired in children with ASD. Instead of picking this information up seemingly out of thin air, children with ASD need to be taught every social skill they need to have. Children are taught to introduce themselves and ask another child to play. But once they have said, “Hi, my name is Matt. Would you like to play?” they may have no idea what to do next. Once they learn a social skill, they need to practice that skill in several environments to achieve generalization of that skill. Parents are essential to their child’s ability to have friends. Parents may need to be the bridge between their child with ASD and peers. The relationship may develop with the child, friend, and family at the same time. It is terrific if one parent shares a passion with the child. This interest can become the basis of a lifelong bond for the parent with the child, who is otherwise unskilled at connecting with others.

Story One dad of a child later diagnosed to be on the spectrum learned of classmates who were possibly interested in role-playing games or RPGs. The mom arranged for the four kids to come over and learn to play the gateway game, Dungeons and Dragons. The dad held this game (and later, many others) weekly for whoever wanted to or was able to come. The mom always had snacks and something to drink at the ready. The parents created a circle of friends around their son, which lasted from second and third grade through middle school. Their son always felt he had friends, which provided a social buffer for him. More on RPGs in section “Adolescence: Social Success, Bullying, Dating/Sexuality, Mental Health, and Driving”. Sometimes, when parents tell you that, of course, their child has friends, they do not realize how much effort they put into making this happen and may not know how having friends is much easier for children without ASD.

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Parents, teachers, and therapists can create a “circle of friends,” based on reports regarding children who get along with the child in other settings. Some children are just less flustered, more tolerant, or easygoing than others. When parents notice children who are like this with their child, they need to support and cultivate this relationship. Playdates  Starting in preschool, parents start to arrange short playdates with other children, who may be from a daycare, preschool, neighborhood, or community group. The following can be used as a parent handout, so is addressed to parents. Playdates for children with ASD have different rules. 1. Invite one other child over, not more. If you invite two or more children to play with your child, those others will see that your child is content to do their own thing and will go off together to do something else. 2. Keep it short. A short, successful playdate is much more likely to lead to a second, short, successful playdate. If there is too much time, more things can go wrong, and neither your child nor the other child will want to repeat that experience. One hour is a good starting point. 3. Set up the rules with your child beforehand. Ask your child to put away toys they do not want to share with another child. Ask your child to select toys or games that they do want to share. 4. Set up an activity that you can supervise. Invite the child to come over to bake or decorate cookies. This way, the adult can supervise the interactions. If you see a moment when your child should say or ask his guest something and nothing is happening, you can prompt your child to say, “Ask Craig if he wants another cookie cutter.” You can anticipate and derail any signs of discord between the children. 5. In this situation, a playdate is not time for the parent to do something else. It is imperative that the parent listens to everything and watches if needed. 6. As children grow older, you should stop calling these “playdates,” even if that is what they are. “Would you like Jenny to come over and hang out this afternoon?” becomes more age-appropriate. 7. Short outings to a small, local zoo or park are also good opportunities, so long as you are the parent taking them. 8. If your child does get invited to go to another child’s house, review the rules of play before they go. If your child is likely to refuse unfamiliar foods, you might send snacks that you know both would like. If your child’s differences have been noted, you might want to share some information with the other parent, just as you would if your child had a peanut allergy. Encourage the other parent to call you if they have questions or concerns, and be available. Handwriting  Many children with ASD have great difficulty learning to write in either printing or cursive. This is not due to intelligence, age, gender, or visuospatial skills but rather difficulty learning how to form letters [12]. Fuentes found that within the ASD group, motor skills were significantly predictive of handwriting performance.

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However, parents should not think that because their child can play video games that they should be able to learn to write. This appears to be a specific difficulty, often diagnosed as “dysgraphia,” which should allow a child to have early access to a keyboard or dictation system. I encourage parents to think of this as an impaired software program. The program for motor control of a game controller is a different program. Poor handwriting can lead to complications in higher math, as students may not be able to line up their figures or equations in a way that makes sense. Often the demand to “show your work” leads to complications and resistance or avoidance. Occupational therapy is recommended both for handwriting and general fine motor skill development. The future of handwriting could be obsolescence. With voice to print software, DocuSign replacing signatures, and the ubiquitous use of tablets and other electronic platforms, handwriting could fade in utility, something that would make my patients who struggle with this skill quite happy. Other Fine Motor Delays  Children with ASD may have other fine motor delays that are not specific to autism. Fine motor delays lead to delays in self-help skills. The average 4-year-old can handle fasteners such as buttons, snaps, and zippers. Delays in dressing, toileting, and using utensils are common in the 4-year-old with ASD.  Tying shoelaces used to be a great 5-year-old milestone, that is, until the advent of Velcro. Now tying shoes is a variable skill for all kindergarteners. Many parents see tying shoes as an important landmark for their children and spend a lot of time trying to teach children who are not ready to try to tie a bow. I try to convince parents that tying laces is really optional today and reinforce that by showing them my shoes with Velcro fasteners. There are options of laces that are elastic curls and can just be tightened. There are slip on shoes, and of course, there are the tie shoes that children just kick off and slip on anyway. Sometimes I get the history that a child only eats finger foods and that is related to the ability and comfort with using utensils. It can just be frustrating to the child, who does not see any reason for eating in a less efficient manner. Utensils only slow them down. They don’t try to copy parents or siblings or know which social expectations are important. Of all the skills that use fine motor skills, probably toileting is the highest priority, as is avoiding chronic constipation that leads to encopresis (see toilet training section). Still wait for the child to show interest in order for the most successful and least time-consuming path.

Community Activities As the child with ASD attends school full days, they spend less time in developmental and autism therapies. This is also a chance for parents to seek out more community-­based activities for the child to use the skills they have learned with

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peers. Parents’ history of involvement with scouting or 4H might lead to a trial in a local troop for their child. Because of the increased encouragement of parents to be involved, a dad can attend scout meetings with his son or a mom with her daughter, to see how the child responds, and whether they can have a good time. Encourage hobby groups linked to the child’s passion. There are clubs or associations for model railroaders, radio-controlled cars and planes, and stamp and coin collectors. Hobbyists love a child, who loves what they love, and will be inclusive regardless of some behavioral quirks. Many children who love games are called “gamers” and may enjoy going to the local game store to play the Pokémon card game or a miniatures game like Warhammer 40  K or role-playing games like Dungeons and Dragons. Gamers will include anyone who can play their game, regardless of physical or behavioral differences. They are one of the most inclusive groups I have ever worked with. If going to a game store is too big a step, a parent can learn to play a game the child likes, say the Pokémon card game, and then host a small group of children to come and play on a regular basis. This creates a small “circle of friends” for the child with ASD. Parents may be active in a church or temple, which should be a welcoming place for all. Some are wonderful in their acceptance of all people and children, and others not so much. I have had churches ask parents not to come to services with their children with ASD because of disruptive behaviors. This seems wrong to me, and I have encouraged parents to get Eric Carter’s book, Full Inclusion of People with Disabilities in Faith-Based Communities, for ideas about working with their religious organizations [13]. If parents share some of the characteristics with their child, they may find this kind of social outreach very difficult. Parents might themselves be socially comfortable alone or with a very few close friends or relatives. Maybe in the future, we will not have to ever interact with others, doing everything we need via our electronic connections. That time is not now, and so far, adults still go to jobs where they have to interact with others, and social connection is valued. If an adult with social anxiety thinks that they need to reach out to others for the sake of their child, then some can overcome their own social reluctance. Sometimes parents need treatment for their own anxiety, which, again, can be framed as helping the child. Working With the Schools  Depending on the type and location of your practice, you may have the interest and opportunity to work directly with your patient’s schools. If you are in a larger, more urban area, school districts often have their own “autism consultants” who can be called in to assist with challenging situations related to this disability. Sometimes, the consultants are knowledgeable and insightful, and sometimes not so much. There does not seem to be any kind of uniform training, certification, or expertise required to call oneself an “autism consultant.” While many are extremely well-trained with advanced and terminal degrees, others may be parents of children with ASD who are willing to help out. If your patient does not have access to such expertise through school, then your willingness to share what you have already learned so far could be extremely helpful.

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While you might only get a call from school or a request through parents that the school is looking for a medication from you, you can encourage the success-­based approaches described in the behavioral sections of this book (see Collaborative and Proactive Solutions by Ross Greene in Lost at School [14]). If you see the child as a “problem,” then it is hard for others to see them through another lens. If you represent the child in a positive way, you may encourage others to do the same. Summertime Syndrome The peak in phone calls to my office happens in August. Parents want help with behaviors or think maybe their child’s medications need to be changed. This is the end of summer, and the lack of the school routine, changes in summer programs, or how a child spends a day start to wear on them and the family. I may make some suggestions, but the main one is “Can you make it through the next couple of weeks until school starts?” I try not to change medications this close to the school year. Homeschooling I used to be very opposed to the whole idea of homeschooling. Just as our nation today is affected by only reading or listening to news that agrees with us, I think it is important for children to be exposed to people from cultures and traditions other than their own. We used to hear a shared narrative from a maximum of three news anchors every evening (CBS, ABC, NBC). Now with hundreds, perhaps thousands, of ways to get the news, we no longer share that story together. I used to think of homeschooling as a way to shelter a child from other people’s opinions. I no longer see it that way. I changed because of the intensity and aggressiveness of bullying. Children, who are as socially different as children with ASD, are some of the most vulnerable targets for bullies. It is pretty easy to exclude children who by nature are socially isolative, but children with ASD may really want to make and keep friends and are hurt by rejection. These kids may keep trying, but, lacking an understanding of other people’s points of view, often fail because they cannot sustain social reciprocity. Full inclusion works best at the preschool and elementary school levels. If school administrators and teachers model full inclusion for their students, then younger children often follow the adult lead. Because of factors involving typical development, this becomes much harder as children move into middle school and high school. Bullying will be discussed there. Many parents, who are able, have thought down this road and have already decided to homeschool their child before it becomes a problem. Parents must enroll their child as homeschooled with the state to avoid truancy charges. Children who are homeschooled usually do not have any access to special education services or school-based therapies. They do not get an individualized educational plan. If parents pick a private or parochial school for the child to attend, the school districts usually do not feel responsible for the special needs of the child. Some communities

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are more flexible than others. This is a big decision that can affect family stress, finances, and quality of life, both better and worse, for all.

 dolescence: Social Success, Bullying, Dating/Sexuality, A Mental Health, and Driving Adolescence can be tough for almost everyone. Imagine if you couldn’t read social cues, didn’t know when to tell a joke, and could not tell who was a friend and who was not. Imagine it’s hard to see the world from another person’s point of view. You thought everyone wanted to hear about Minecraft, Pokémon, or Star Wars. Imagine that even small transitions have been hard for you, like a new teacher, a change in seating, and a change in the expected daily routine. Now imagine leaving the familiar elementary school and moving into a big building, with nothing familiar, with some kids who are physically mature and some who are not, and needing to change classes every 45 minutes and have multiple teachers throughout the day. Imagine you had autism. Everything about these years is complicated by the core features of autism. Other children are no longer as tolerant of difference and move away from peers who are different as if that difference is contagious. Peers want other peers to meet them at least half-way now, which is perhaps impossible for the student with ASD. A young child, who does something that is socially inappropriate, is still sort of cute. When the child is 12 or 13, the same behavior is no longer thought of that way. Now it just looks different and unacceptable. Especially for cognitively able children with ASD, there is more blame, as in “He’s smart enough to know better,” even if this is a completely false assumption. The major job of adolescents is to prepare to become an emotionally and financially independent member of society. For teens with ASD, that job is more complex, harder to achieve, and may take much longer than a same-aged peer. Parents may need to adjust their hopes and expectations to goals that are realistic and achievable. Hopes and dreams are valuable, but need to be approached in smaller steps, and allowed to unfold in their own time. The good news is that we can see continued growth well into adulthood, and that continued support from family and friends can continue to reap benefits for a long time. Independence is another spectrum. Teens with greater disability from ASD or ASD/ID usually spend less time with typically developing peers, and their individualized educational goals will focus on daily living or work-related skills. Every effort should be made to provide the least restrictive environment with opportunities for full inclusion, but the balance between social need and academic goals can be hard to maintain. Parents may feel better that the child spends more of the day in a more protected environment. Other parents may wish for full inclusion but try to make decisions based on what their child needs the most from school. For all teens with ASD, the goals still include using passions to reach educational goals, supporting social skill development, and improving communication skills.

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Medical needs  Primary healthcare needs of adolescents are similar to those in elementary and middle school, such as insomnia, obesity, constipation, executive function, and adaptive skill deficits. We continue encouraging healthy behaviors, emphasizing safety, being proactive about bullying, and encouraging socially appropriate peer activities. Discussing gender, dating and sexuality, and driving takes on increasing importance. We should start talking about these topics early enough for parents to prepare their approach to uncomfortable subjects, but not too early, when they have limited relevance to the child or family. Children with ASD may mature socially at a slower rate than peers and may not be ready to talk about these topics at the same time as others. Ask each set of parents and children, separately if t­olerated, whether they have questions about these issues. Immunizations remain important, especially HPV. Does the teen know their ASD diagnosis? When is the right time to tell? Some parents have chosen not to discuss the child’s diagnosis in front of them. I had one mom, who insisted that we talk about the child in the third person, as if we were discussing a friend. I agreed, to keep the family engaged, but encouraged a different course when possible. If the family knows their child has ASD, the earlier parents use the word, the easier it is over time. Younger children don’t dwell on things that parents state as fact, as naturally and calmly as possible. Once children have learned about autism and identify this condition with the most severely affected disabled children in their school, it can be much harder to introduce this idea. However, no matter when the diagnosis is made, it is VERY important to disclose it to the affected child or teen. Interviews with higher-functioning teens and adults almost universally reveal that learning they had a condition was a great relief. Their difficulties are not due to a character flaw, or bad situations, but secondary to something they did not control. Their challenges were not because of their poor choices nor the fault of their parents or teachers. Sometimes parents worry that autism will become an excuse. It isn’t. It’s an explanation.

The Social Life of Teens with ASD Friendships  By the time a teen with ASD is in high school, they may or may not have developed friendships with peers. Many children with ASD are described as “loners” and may not be able to identify any friends. They are likely to not have invited anyone over to their home, and they are likely not to have been invited to another home. The more friends a teen has, the more protected they are from bullying and the greater the social ease with others develops. I’ve seen two approaches of teens with ASD to the idea of having friends: (1) teens who really want friends, can say they want them, and are sad that they do not and (2) teens who seem very self-content, immune to peer pressure, and do not actively pursue friends, at least in high school. It is, of course, possible, even likely, that the teen who does not pursue friends has experienced so much social failure that

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they have already stopped trying as a method of self-protection. Why expose yourself to more failure? Research would support the notion that teens with ASD want to have friends, may think they have friends when they do not, and can emotionally feel loneliness. Parents of teens with ASD have to continue to work harder to find opportunities for social connection for their offspring. Children, who are more severely affected by their autism, can enjoy the company of others, but may appear more settled on their own. A family can measure their child’s tolerance for peer contact and offer short, positive experiences as often as possible. The best approach to finding social groups for teens with ASD is to find a common interest group. Whatever the special interest, there is probably a group of people who share that interest and would welcome a like-minded person into their group. I have certainly seen this work for teens who enjoy “gaming,” referring to role-playing games like Dungeons and Dragons (and hundreds of others), video games with other gamers around the world (see additional discussions under screen time Chap. 15 and RPGs, below), science fiction, or anime fans. There is an academic text on RPGs by Bowman [15]. Box 17.2 Role-Playing Games or RPGs: For those who did not spend their middle and high school years playing with a Dungeon Master and elves, dwarves, and wizards, this is for you. Dungeons and Dragons was the first major RPG first published in 1974. Based on military miniature war-gaming, initially based on recreating actual military encounters, the games evolved to have fantasy scenarios with military figures and artillery. D&D changed this model to be character driven with each player assigned a character from this fantasy world, and instead of a military assignment, the characters were sent on adventures to capture treasures or other goals. This is usually played indoors, at a table, and one person is the Dungeon Master, who knows the story, situations, traps, treasures, and can send the characters off to seek their fortunes and who controls the situations facing the players. The fundamental features of the character were decided by a role of a polyhedral die. They would role the die for each characteristic such as intelligence, strength, constitution, dexterity, wisdom, and charisma. Using a 20-sided die, this would mean a character, who had an intelligence of 20 and a strength of 2, would be most likely to figure out tactics and least likely to break down a door successfully. There are three reasons why RPGs are especially helpful to children with ASD: (1) The system gives a numerical value to human characteristics, which introduces the analog notion of strengths and weaknesses in people. (2) The game puts players in hypothetical situations and asks them to figure out as a group of adventurers “what-if” scenarios. What if you got separated from the group, what would you do? This ability to speculate is an extremely useful adjunct to flexible thinking in daily life. And (3) this is a model of small group cooperation. Brilliant.

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The idea of “fandom” is useful in this situation. If you take the passion and think of the teen as a “fan” of something, this tends to normalize the interest, as there are many neurotypical teens and adults who are Green Bay Packers fans, Taylor Swift fans, Blackhawk fans, Muppet fans, etc. I know science fiction fans the best. At a science fiction convention, I can socially approach anyone there and talk about SF. If they are carrying a book by David Brin or Ken Liu, we can talk immediately about that author. My guess is that a sports fan watching a game at a restaurant, wearing the right colors, would have this same experience. Try to find an outlet for the teen’s passion in groups like these. If a teen expresses an interest in any kind of sports, encourage them to learn as much as possible about the teams and players. Teens who can remember and share statistics (RBIs, TDs, MVPs, etc.) gain social credibility and respect from other peers. “Ask Bill who won the 35th Super Bowl,” and, if answered, it can open a social door (Leavitt, personal communication). Bullying  Most adolescents with ASD report being bullied. Although the numbers vary somewhat between studies, about three times as many teens with ASD have been bullied compared to neurotypical peers. The literature on autism and bullying has exploded in recent years. One study reported that 46% of teens with autism were victimized, 14.8% were perpetrators of bullying, and 8.9% were both victims and perpetrators [16]. More recent data questioned whether children and teens with “ASD only” would have clear intent to cause suffering in others. Hwang, Kim, Koh, and Leventhal found that if they controlled for comorbid diagnoses like ODD, hyperactivity, aggression and conduct disorders, and a few other DSM-5 diagnoses, then then children with “ASD only” were much less likely to be perpetrators or victim/perpetrators and much more likely to be victimized than community peers [17]). There is a positive correlation with being bullied and having anxiety and depression, but it is not clear if one temporally precedes the other, vice versa or if they interact and intensify each other over time. These studies are difficult because the person with ASD has by definition a harder time verbalizing experiences and feelings and may not recognize or be able to report instances of victimization. It is obvious and clear that ASD itself makes affected children very vulnerable to bullying behaviors and social rejection by peers. Bullying prevention has become an important goal in many school districts across the country. How best to do this is not clear, but this represents another instance where early intervention can be very effective. Once bullying has been established in a school community, it is very hard to reverse that situation. There are anti-bullying programs with more evidence than others. PCPs are central to bullying prevention. PCPs can educate parents proactively about ways to enhance their child’s acceptance by peers. PCPs can spearhead advocacy for the safety of all children in their local schools. Your potential to create good in this area cannot be underestimated.

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Symptoms of being bullied: • • • • • •

Changes in appetite Changes in sleep patterns, maybe nightmares Refusal to go to school Increase in sleep issues Increase in irritability or anxiety Changes in behavior from baseline Box 17.3 Surveillance questions to elicit social connectedness of patients with ASD [4] (adapted from Braddock et al. [18]): • • • • •

Tell me about your friends. Can you name 1–2 friends in your class? Did you get together with them over the last month? Did you get invited to get together with friends your age? What clubs or activities do you do on a regular basis? Most kids with autism have been teased or bullied at school. Has that happened to you? Tell me about it.

Children with social skills deficits can be referred for “social skills training,” which is based on structured learning of specific prosocial behaviors, practiced both in and out of the training situation so the skills can be practiced and generalized. There are a number of programs with evidence-based support, such as the Olweus program in Europe and the PEERS model from the USA. PEERS (Program for the Education and Enrichment of Relational Skills) (Chap. 12, reference 10) is an 8–12-week program for both parents of and adolescents with autism. Group leaders have specific training and help teach prosocial skills to the teens and support parents with ideas about how to reinforce the skills their children are learning. They teach children how to enter a group, how to deal with rejection, how to negotiate, be a good host, and be a good winner, among other lessons. If anyone in your local or regional area runs this course, suggest this to verbal children who are struggling. Carol Gray, who has developed many teaching materials for educators, parents, and children with ASD, wrote “Gray’s Guide to Bullying” to improve communication skills as they pertain to bullying [19]. Social connections, or friends, act as a protective barrier or shield against bullying. Ways for parents to increase social connectedness (addressed to parents): • Ask for a referral for social skills training. • Seek out other peers with similar interests. • Ask a teacher or counselor at school if there is a peer who relates to your teen. Invite them over or take them out to a community venue.

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• Find special interest groups for your teen. • Support your teen’s ability to travel to a competition, such as math, geography, or computer programming events. They may be able to travel with the team, need a parent to chaperone, or get independent travel arrangements. • Find volunteer opportunities for your teen. If they love animals, they may be able to volunteer at a shelter or pet-sit for a neighbor. Praise them for “helping others.” Behind the concerns for the well-being of children who are bullied, ostracized or both, is the fear that bullies or victims might become school shooters. The AAP initiated “Connected Kids: Safe, Strong, Secure” to address violence prevention in the context of primary care settings. Although preventing school violence is worthy of much more than I can provide here, the need to address lack of mental health services for children was powerfully written by Liza Long in her essay, “I am Adam Lanza’s Mother” [20]. She, the mother of another child, described the fear of living with a mentally ill child who threatens violence and who is told by authorities that her best option was to charge her child with a crime and involve the juvenile justice system because mental health treatment was not available otherwise. This is unacceptable. Other research studies related to bullying: Weiss [21]: Maternal parenting stress exacerbated the influence of bullying victimization on child anxiety. Zablotsky [22]: In a survey of over 1200 parents, “children who were frequently victimized were more likely to present with internalizing symptoms, whereas children who frequently bullied others were more likely to exhibit emotion regulation problems. Bully-victims had both. Fink [23]: In a survey of children with autism, who were cognitively able, attending a special school for children with autism, mean age 15.6  years, bullying decreased with age and was associated with behavioral problems, while victimization was only associated with peer problems. Autism severity did not significantly predict bullying-related behaviors. Braddock [24] discussed the pediatrician’s role in the management of social skills deficits in adolescent children. “A Few Close Friends”. Resource for Medical Home: The American Academy of Pediatrics has a campaign called The Resilience Project, https://www.aap.org/en-us/advocacy-and-policy/aap-health-initiatives/resilience/Pages/Bullying-and-Cyberbullying.aspx Bullying resources for parents: The American Academy of Pediatrics has a site called “Healthy Children” with verified information for parents. Information Sheet on Bullying and Autism Spectrum Disorders, The Spectrum, Vol 2, No 1, 2006. Autism Speaks website autismspeaks.com Gray’s Guide to Bullying by Carol Gray, 2001 website thegraycenter.org What if Your Child IS the Bully? PACER Center ACTion information sheet, 2005 from the Pacesetter newsletter.

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Sexuality and Dating  While talking about sex has always been hard for most parents of any children, as PCPs we are emotionally one removed from the situation but are a knowledgeable and trusted person for the teen and his or her parents. You also know the facts related to healthy physical and emotional development. Parents may ask for your help in explaining this to their child with ASD. If they don’t ask, be proactive. Ask if they would like you to talk with their teen. There is an invaluable resource written by social work professor Susan Kidd-Webster and pediatric nurse practitioner Susan Heighway called Relationship Building and Sexual Awareness for Kids with Autism: S.T.A.R.S.-2, which I would recommend for everyone working with a teenager with ASD. The revised model focuses on understanding relationships, social skills training, sexual awareness, and assertiveness [25]. The needs of people with ASD vary a lot by language level and cultural setting. But let’s imagine what might be needed: 1 . Find out what they already know. 2. Ask what questions they have. (They may not be able to articulate this, but it is worthwhile to ask.) 3. Give clear and straightforward information. 4. Developing healthy friendships is the basis for any romantic relationship, so continuing to work on the concept of friendship is critical to the individual being ready for this next step. 5. Honesty. 6. Do not assume you know the child’s gender identity nor to whom they are attracted. You must ask, unless the child tells you first. Variations from expected are being noted in the ASD population. Saying, “You may feel anxious, and that is normal,” can help normalize their feelings and allow them to respond. Parents have wondered about dating, marriage, and children having children since their child was diagnosed. Parents have asked me “Will my child get married?” at the diagnostic visit, when the child is 3 or 4 years old. It is never too soon to talk with parents but follow their lead. I have found clinically that social relationship questions from the ADOS are extremely informative and include asking older children and teens whether they have thought about having a boyfriend or girlfriend, about getting married, and why they think someone might do that [12] (ADOS-2, Module 4, Lord et al. [26]). For teens with more disability, the parental concern often is focused on the safety of the teen, who is very vulnerable to predators. Birth control may help with menses regulation and prevent pregnancy but cannot protect from trauma or disease. Some teens may masturbate in public, expose themselves, or touch others without recognition of the social consequences. PCPs and nurses can provide sex education to teens and parents. Talking about it does not make it happen [27]. Gender Identity  Please see Chap. 21). In short, people with ASD have a higher rate of gender nonconformity and sexual orientation than non-autistic peers. And

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people with gender nonconformity have a higher rate of autistic symptoms than gender-conforming peers. For this section, think about the vulnerability of your teenage patient with ASD.

Safety Because teens with ASD do not read social cues and may take peers and adults literally and at their word, they are vulnerable to getting into unsafe situations and abuse. They may also be more honest and say things about wanting to have sex, when it is socially very inappropriate, which leads to more exclusion by peers and, now, to sexual harassment charges. Safety continues to be a major concern in this age range. One boy I cared for began to touch girls and women in their private areas. Mother and I came up with the idea to draw a cartoon-like girl in a swimsuit and draw big, red Xs across the “swimsuit areas” giving the child a visual strategy for learning the rule of where not to touch others. Have a high index of suspicion for being harassed or abused if your patient with ASD has an increase in mental health symptoms or school refusal. Remember that “stranger danger” can develop much later than other peers. Both “stranger” and “danger” are abstract concepts that are hard for our literal-minded patients and have to be taught, like many other social concepts. One mother told me that she had to teach her son “every single social rule” even though he was an excellent academic learner. Driving  Although the advent of self-driving cars may be a tremendous boon to individuals with a variety of disabilities, as of today, learning to drive is still a rite of passage for adolescents and young adults. The skills needed to be a good driver are often not the strengths of a person with autism. Teens and adults with ASD often have challenges with: 1 . Flexible responses to changing patterns 2. Unexpected events 3. Sustaining attention 4. Planning ahead 5. Distraction, both internal and external While many teens with ASD could pass the written test, those who may be good candidates to learn to drive should have more simulator training and extended supervised driving than another of the same ability level. Patrick KE looked at young adults with ASD and found they had more difficulty than same-aged peers, especially in the early stages. This group advocated a slow and gradual approach to driver training [28]. A recent study showed that about 1/3 of teens with ASD and average cognitive skills earned a driver’s license compared to 83% of their peers [29].

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Mental Health and Suicidality  Seventy percent of individuals with autism have one co-occurring mental health diagnosis; 40% have two or more. A variety of disabilities are associated with greater likelihood of suicide attempts. Mood disorders, both anxiety and depression, are more common in teens with high-functioning ASD, presumably because of their greater awareness of their differences, challenges with peers, and ability for self-reflection. Mood disorders significantly affect the quality of life and functioning level of the individual, and it is important to be on the lookout for early detection and treatment of depression and, hopefully, suicide prevention. There is no depression screening tool that has been validated for patients with autism, as of this writing. While, if you use one, it isn’t wrong to use with these children, but it is possible that the symptoms of autism may prevent the child from being able to answer the questions accurately. Some authors recommend getting information from multiple sources (parent, school, therapists). Remember to make your questions clear and concise, and think about visual strategies like a Likert scale of sad to happy faces, and ask patients to choose how they feel today and how they usually feel. Box 17.4 Encourage Physical Activity: Physical activity is a well-known strategy to help with mood disorders. Some families are naturals at incorporating physical activity into their families’ daily lives. Others are not so adept. Among teens with ASD and their parents, there are many fans of computers, video games, movies, reading, and other sedentary activities. For them, I recommend Pokémon Go. Pokémon Go is an augmented reality game for mobile devices, and it is free to use. It uses GPS to locate hundreds of creatures called Pokémon, which the player can capture and train. There can be in-app purchases a player may want. Walking is used in the advancement of gameplay. Players walk to locations and search for these creatures, which can be upgraded and played against other people’s characters. I was at a monthly Community Day in Plymouth MI, when special creatures were released. There were hundreds of teens and young adults in this one shopping area, usually walking in groups of two to three, all looking at their phones. If you didn’t know what was going on, you might not have noticed. The major caveat to this is the need for a “designated non-player,” who can make sure the players do not walk into the street or other obstacles. This is another passion that can be shared with peers.

Of course, we all want to prevent suicide. A large-scale population study by Cassidy and Rodgers found that suicide is the leading cause of premature death in people with autism [30]. However, the rate of diagnosed depression is lower in people with ASD than in the population of people who committed suicide. In this

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study, 66% of adults with Asperger syndrome had suicidal ideation, but only 32% were depressed. No one knows whether depression is actually less frequent, or that problems are attributed to “autism,” or that “going to see someone” might be much less acceptable to the person with ASD who has social anxiety. Sometimes suicide is an impulsive act, and I can easily imagine fear and impulsivity as a factor in people with ASD. Teens who are more disabled or nonverbal teens may use behavior to express their fears or distress. You may see an increase in self-injurious behaviors or aggression, changes in mood, sleep, or appetite. The Functional Behavioral Analysis described in Chap. 16 might help sort out the cause for a particular child. Lower-­ functioning teens have premature death due to a variety of causes, the leading cause being epilepsy [31]. The benefit of social connectedness cannot be overestimated. Having “a few good friends” is known to be protective against bullying and ostracism. The more connectedness, the better the force field. We also must ask about accessibility to weapons, especially guns. Of parents who do not believe their child could access their guns, about 20% of children report knowing how to do so. While suicide attempts occur 100–200 times for every completed suicide, we need to make access impossible, especially when the child expresses thoughts of self-harm or shows symptoms of depression. The first international conference on suicide in autism was held in the UK in 2017, so more research is likely forthcoming. Anxiety is discussed above. Also see Diagnostic Borderlands, which discusses other mental health and developmental diagnoses that may co-occur or have overlapping symptoms with ASD. REGRESSION IN ADOLESCENCE: A small percentage of children with ASD experience a loss of skills during adolescence, up to 12% of classically defined children as reported by Ghaziuddin et al. [32], who attributed this number to Lockyer and Rutter. Because this is older information, the total percentage will drop with more mildly affected children included on the spectrum. This can be associated with the development of epilepsy, which can sometimes only present itself at night, during slow-wave sleep. Another group of children may have a slowing of movement along with decreased interest in previous activities. It is important to think about depression, which can happen in people of all intellectual abilities, but this may also be the time when catatonia associated with autism emerges. “With catatonia” became one of the specifiers in DSM-5. The main features of catatonia include immobility, extreme negativism, mutism, and unusual voluntary movements (described as “posturing”). Of the studies of people with autism, catatonia was found in between 6% and 10% of subjects. These both come from times before the broadening of the spectrum, so we should think of these percentages as part of more classically defined cases. If ­associated with severe depression, there are two case reports of response to ECT, following extensive medication failures. Depression and catatonia improved. Catatonia can be associated with weight loss from decreased eating. On occasion, the symptoms of schizophrenia emerge in persons with ASD, but they would have to be verbal enough to describe hallucinations.

References

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References 1. Ofei SY, Fuchs GJ. Constipation burden in children with autism spectrum disorder: emergency department and healthcare use. J Pediatr. 2018; https://doi.org/10.1016/j.jpeds.2018.06.057. 2. Wheeler M. Toilet training for individuals with autism or other developmental issues. 2nd ed. Arlington: Future Horizons; 2007. p. 131. 3. Marion IW, Nelson TM, Sheller B, McKinney CM, Scott JM. Dental stories for children with autism. Spec Care Dentist. 2016;36(4):181–6. https://doi.org/10.1111/scd.12167. 4. Tuchman R, Cuccaro M, Alessandri M.  Autism and epilepsy: historical perspective. Brain Dev. 2010;32(9):709–18. https://doi.org/10.1016/j.braindev.2010.04.008. 5. Besag FM.  Epilepsy in patients with autism: links, risks and treatment challenges. Neuropsychiatr Dis Treat. 2018;14:1–10. https://doi.org/10.2147/NDT.S120509. 6. Tuchman RF, Rapin I. Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics. 1997;99(4):560–6. https://doi.org/10.1542/ peds.99.4.560. 7. Jiujias M, Kelley E, Hall L.  Restricted, repetitive behaviors in autism spectrum disorder and obsessive-compulsive disorder: a comparative review. Child Psychiatry Hum Dev. 5 ed. 2017;48(6):944–59. 8. Hagopian LP, Jennett HK. Behavioral assessment and treatment of anxiety in individuals with intellectual disabilities and autism. J Dev Phys Disabil. 2nd ed. 2008;20(5):467–83. 9. White SW, Schry AR, Miyazaki Y, Ollendick TH, Scahill L. Effects of verbal ability and severity of autism on anxiety in adolescents with ASD: one-year follow-up after cognitive behavioral therapy. J Clin Child Adolesc Psychol. 2nd ed. 2015;44(5):839–45. 10. Moskowitz LJ, Walsh CE, Mulder E, McLaughlin DM, Hajcak G, Carr EG, et al. Intervention for anxiety and problem behavior in children with autism spectrum disorder and intellectual disability. J Autism Dev Disord. Springer US. 2017;47(12):3930–48. 11. Postorino V, Kerns CM, Vivanti G, Bradshaw J, Siracusano M, Mazzone L.  Anxiety disorders and obsessive-compulsive disorder in individuals with autism spectrum disorder. Curr Psychiatry Rep. 4 ed. Springer US;. 2017;19(12):92. 12. Fuentes CT, Mostofsky SH, Bastian AJ.  Children with autism show specific handwriting impairments. Neurology. 2009;73(19):1532–7. 13. Carter EW. Including people with disabilities in faith communities: a guide for service providers, families, and congregations. Baltimore: Paul H Brookes; 2007. p. 236. 14. Greene RW. Lost at school: why our kids with behavioral challenges are falling through the cracks and how we can help them. 2nd ed. New York: Scribner; 2014. p. 315. 15. Bowman SL. The functions of role-playing games: how participants create community, solve problems and explore identity. Jefferson: McFarland & Co; 2010. p. 208. 16. Sterzing PR, Shattuck PT, Narendorf SC, Wagner M, Cooper BP. Bullying involvement and autism spectrum disorders. Arch Pediatr Adolesc Med. 2012;166(11):1058–7. 17. Hwang S, Kim YS, Koh Y-J, Leventhal BL. Autism spectrum disorder and school bullying: who is the victim? Who is the perpetrator? J Autism Dev Disord. 2nd ed. 2018;48(1):225–38. 18. Braddock BA, Twyman KA, Garrity MR, Wang T, Neary MK, Ezzelgot J, et al. A few close friends: the Pediatrician’s role in the management of social skills deficits in adolescent children. Clin Pediatr (Phila). 3rd ed. 2015;54(12):1192–9. 19. Gray C. Gray’s guide to bullying [Internet]. Accessed 1/27/19. Available from: https://carolgraysocialstories.com/wp-content/uploads/2015/10/Spring-2004-ISSUE-and-workbook.pdf. 20. Liza Long. I Am Adam Lanza’s Mother: A mom’s perspective on the mental illness conversation in America; Source title: The huffington post; December 16, 2012; URL: http://www. cengage.com/custom/static_content/OLC/s76656_76218lf/long.pdf. 21. Weiss JA, Cappadocia MC, Tint A, Pepler D.  Bullying victimization, parenting stress, and anxiety among adolescents and young adults with autism spectrum disorder. Autism Res. 5 ed. 2015;8(6):727–37. 22. Zablotsky B, Bradshaw CP, Anderson CM, Law P. Risk factors for bullying among children with autism spectrum disorders. Autism. 2014;18(4):419–27.

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23. Fink E, Olthof T, Goossens F, van der Meijden S, Begeer S.  Bullying-related behaviour in adolescents with autism: links with autism severity and emotional and behavioural problems. Autism. SAGE Publications Sage UK: London, England;. 2018;22(6):684–92. 24. Braddock BA. A few close friends: the pediatrician’s role in the management of social skills deficits in adolescent children. Clin Pediatr (Phil). 2015;54(12):1192–9. 25. Kidd-Webster S, Heighway S.  Relationship building and sexual awareness for kids with autism: S.T.A.R.S.-2. Arlington: Future Horizons; 2015. 26. Lord C, Rutter M, DiLavore PC, Risi S, Gotham K, Bishop SL. Autism diagnostic observation schedule. 2nd ed. Torrance: Western Psychological Services; 2012. 27. Curtis A.  Why sex education matters for adolescents with autism spectrum disorder: viewpoint. Am J Nurs. 2017;117(6):11. 28. Patrick KE, Hurewitz F, McCurdy MD, Agate FT, Daly BP, Tarazi RA, et al. Driving comparisons between young adults with autism spectrum disorder and typical development. J Dev Behav Pediatr. 2018;39(6):451–60. 29. Curry AE, Yerys BE, Huang P, Metzger KB. Longitudinal study of driver licensing rates among adolescents and young adults with autism spectrum disorder. Autism. SAGE Publications Sage UK: London, England;. 2018;22(4):479–88. 30. Cassidy S, Rodgers J. Understanding and prevention of suicide in autism. Lancet Psychiatry. 2017;4(6):e11. 31. Hirvikovski T, et  al. Premature mortality and autism spectrum disorder. Br J Psychiatry. 2016;208(3):232–8. 32. Ghaziuddin M, Quinlan P, Ghaziuddin N. Catatonia in autism: a distinct subtype? J Intellect Disabil Res. 2005;49(part 1):102–5.

Chapter 18

Looking Forward

Transition to Adult Life Although this book is devoted to children with ASD, parents always want to know what their child will be like as an adult. We know we can’t tell them, but I thought it would be helpful for an overview of what we know and don’t know about adults with ASD. As primary care providers, some of you may care for adults. References will direct you to more information on the topic. For several reasons, the literature on late adolescents and adults with ASD is sparse compared to the huge volume of articles on infants, young children, and high-risk children with ASD. Some of this is because of the focus on early intervention, but this literature has also been affected by the changing definition of autism and by the fact that professionals interested in autism are mostly trained in childhood specialties (pediatrics, developmental and behavioral pediatrics, child psychology, pediatric neuropsychology, pediatric neurology, and genetics (80% of geneticists are now pediatric trained)). There is an emerging body of literature that now seeks to fill this gap. There are at least two excellent books devoted to adolescence and adulthood in ASD by Volkmar et al. [1] and Tincani and Bondi [2]. Transition planning should start in high school for all students with special educational support. Students with ASD do not usually experience a seamless transition. I suspect the wide institutional gap between the school system and adult service providers contributes to this bumpy road. Hendricks and Weyman [3] actively advocate for “placing the individual at the center of the transition process,” which they think has been “greatly overlooked.” They presage the current movement to ask individuals with autism about their own goals and aspirations and to put them at the center of transition planning. Self-determination is at the heart of what is now called “supported decision making.” By 18 years, an individual is legally considered an adult and guardianship needs to be decided. Most parents would dispute the fact that any of their 18-year-olds are responsible adults, and the literature on adolescent brain development would ­support © Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_18

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that impression. However, by 18, the law considers them old enough to make binding legal and financial contracts and join the military. At 18, those who qualify become eligible for services such as SSI for Medicaid health care coverage and also may remain in school until the 22nd birthday. The Medicaid application needs ­verification of need from a physician, so some of you may be asked to participate in this process. While many parents of higher functioning children with ASD do not think that they need to provide for legal guardianship, one question that might help determine the need is: “Do you want your child to be able to purchase a car online without supervision?” Without a guardian in place, anyone 18 or older is responsible for the debts they incur and the financial agreements they enter into by pressing “place order.” I’ve used this example because of its remote likelihood and ability to get parents thinking about a difficult topic that still illustrates the point. For children with intellectual disabilities, the need for guardianship is much clearer to all involved. However, even those with ID may want to retain some rights. Guardianship can be graduated to fit the need: full guardianship (called general guardianship) which covers all aspects of life including healthcare, “limited guardianship” if the individual only needs a guardian for medical care, or just financial guardianship (called conservator guardianship) to prevent the car purchase and manage finances. Individuals can retain the right to vote. Although not required, if possible, parents should work with an attorney knowledgeable about disability law, to guide guardianship decisions as well as financial trusts and use of income from employment. Money saved in the name of a person with disability can be considered “assets” and can disqualify that person from being eligible for government assistance. More information on guardianship and financial planning can be found at autismspeaks.com. After High School: Although students with ASD and other delays may receive public school services through to the 22nd birthday, not all students will want to stay in high school for those 3 transition years, and not all are eligible. Some students with ASD are ready to move to university, college courses, trade school, or other post-secondary education. For the academically able students with ASD, college or university is a viable option. However, success at institutions of higher learning depends a lot on the student’s adaptive skills or how they function in everyday life. Adaptive skill deficits can be significantly lower than cognitive abilities and can determine success or failure, especially if the student lives on campus. Getting up, getting ready for class, finding breakfast, and getting oneself to the right building at the right time can all be challenging for the student with impaired adaptive skills. They have to recognize when an assignment has been given and understand a timeline for completion. While there are student services on almost every campus, these traditionally have been completely dependent on the student initiating the request for help on their own. Asking a person with ASD to call up strangers and ask for assistance rarely happens. Sometimes the student with ASD can give a parent permission to contact student services, but without a comprehensive and team approach to address the challenges, the likelihood of successful ­support is low.

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College disability services have traditionally been most successful with students with physical disabilities—mobility, vision, or hearing impairments. There are often note-taking services and counseling. However, the student has to know that they need help and request it. Even though social interaction is not required in a large class like Biology 101, some students with autism are nonetheless stressed by the volume of people there. These students can spend energy just being in the classroom and have little left over to listen to the lecturer, take notes, and learn. These students with ASD may find online learning superior to in-class lectures. Lessons can be played during the best time for them, replayed as needed, and switched off when desired. Online learning gives the student a truly individualized learning setting. Of course, not everything can be learned this way, but some distance education programs allow for email or video contact with an instructor, which may give the student with ASD the social distance needed. Hands-on learning, as in labs, usually occurs in smaller groups, which can be helpful, if the teaching assistant can recognize the student who needs support and is willing to give it. Using a student’s passion can also outweigh the social stress of others. If a student wants to be there, they will (usually) tolerate more stress. For students who have more significant disability from their autism or a co-­ occurring diagnosis of intellectual or cognitive disabilities, many opt to stay connected with the school district until 22 years of age. IEPs continue, so learning is still individualized. These years are used for work on transition to adult life. For some that means continued work on everyday living skills, such as preparing food, washing clothes, shopping, and using public transportation. For others, this means looking for work opportunities in their communities and practicing job seeking skills. After the 22nd birthday, public school responsibility ends. At 22, no agency is required to provide services for all people with developmental disabilities. Each state can define who qualifies for adult disability support, and regardless of diagnoses, an individual must meet those (usually more functional) criteria in order to get state and federal assistance. The state or county human services systems will step in from 18 years if something happens to the parents or family and they can no longer provide care. They can prioritize funding to respond to emergency situations. For those who fall outside of state requirements, the total burden falls back on the family to provide care and support. If you have ASD, you are more likely to get public assistance if you also have an intellectual disability. Living Situations: Most individuals with ASD continue to live with parents during their young adult years. Available numbers are not useful as the definition of the spectrum has expanded to include more mildly affected individuals. Also, whether someone is “living with parents” can change over time. Community living programs often have long wait lists, and unless there is an emergency loss of family, home is the best option for most. Social skills can continue to emerge but are delayed, and the individual with ASD in their 20s may be socially more like a high school or younger student. They may want independence, but may not quite be ready for it.

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Mothers of adults with ASD, who lived independently, reported both positive and negative effects on the individual and on the family. Individuals who lived at home reported negative consequences such as lack of contentment, not being pushed to be independent, and social isolation. Even when the individual lives outside the home, there is “an impressive amount of continued contact between these families and their son/daughter” (Krauss et al. [4]). An excellent review article on transition to adulthood was published by Hendricks and Wehman [3]. While at home, the family should continue to build skills needed for physical and financial independence. (A good list of needed skills can be found at autismspeaks.org.) The goal of living away from home is based on the principle of community-­ based, fully inclusive living. State institutions used to be the inevitable place for adults with significant developmental disabilities. As the civil rights movement blossomed in this country, so did the recognition of individuals with disabilities as people who deserved the right to a “least restrictive environment” both in school and in the community. Institutions gave way to group homes based in communities, which were like half-way houses in this story. Group homes gave way to three-­bedroom apartments, for two individuals with disabilities, and one bedroom for live-in staff. The support came from nonprofit organizations, which trained staff to provide the support and financed by state and county human services departments, with some local, state, and federal support. Your local human services budgets and advocates within the system determine how much support is available in your community. Implementing the principle of self-determination, placing the individual’s opinions and desires at the center of the planning process, is now a national movement. Employment  For the verbal student in high school, the IEP can specify assistance from a counselor to help that student develop a resume and attend job fairs. The speech pathologist or social worker can help with role playing for a job interview. Repeated practice can help alleviate some of the anxiety. Sometimes older siblings or those who have worked during high school can help in this process as well. Unpaid internships or competitive employment in the student’s area of interest on a part-time basis can be helpful in preparing the student for a transition to work life. If one googles “companies that hire people with ASD,” there are many programs listed, but not nearly enough to address the 90% unemployment and underemployment of 1.5 million people with autism in the USA. However, the fact that there are some now is an amazing improvement over previous years. The fact that high-­ profile companies like Google and Microsoft are hiring workers with ASD for their special strengths paves the way for other smaller companies to do the same. And locally, parents working with businesses in their communities across the country create opportunities from the ground up. The website DiverseAbility lists jobs that are especially good for those with strong visual skills and nonverbal skills such as art, music, or facts and job types for nonverbal workers [5]. For adults with both ASD and cognitive impairment, the goal is to find what is called “supported and competitive employment,” meaning jobs that actually need to

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be done for companies, and where individuals earn wages. Before this era, work for the developmentally disabled occurred in “sheltered workshops,” usually large rooms serving many clients, who did “make work” jobs like sorting screws or other tasks with no easily apparent purpose. Finding competitive employment needs the assistance of a person called a “job coach,” again hired by an agency to work with an individual to match his or her skills and interest to a job that needs to be done. “Supported employment” means that the individual has access to a job coach. This system has led individuals finding work that they enjoy and find meaningful, which is, of course, the goal of all parents for all of their children. This is a mandated service across the country, but the quality varies. One state may have a great system, next to a state with almost no services for adults. Quality of services can vary within the same state, on a county by county basis. Story Bill has autism and mild intellectual disability. When I first met him, maybe 30 years ago, I heard that he was having behavioral outbursts at his sheltered workshop. He hated sorting screws or closing envelopes, but he didn’t have a good way to say this. He liked to clean. When he was given a job at our center to help the maintenance department cleaning counters, shelves, elevator doors, and kitchenettes, he became a different person. He was settled, pleasant, and very good at his job. Over the years, he even became friendly with staff, asking them about their day, and always greeting people by name. He is a shining example of finding the right job for the right person. He gained self-­ respect, an income, and satisfaction of a job well done.

Box 18.1 Sometimes nothing works. I cared for a teenage young lady with severe autism and moderate intellectual disability. She was a big girl, which made her challenging behaviors physically dangerous to herself and her parents. She had self-injurious behaviors of forcefully hitting her head with her fist and would lunge at others in an unpredictable manner. People were scared of her. She was tried on many different psychotropic medications, some of which took the edge off, but caused even more weight gain. Her parents had to watch her every minute she was awake. As she moved through her teens, her parents aged, were exhausted, and not sure how long they could keep this up. There were no viable out-of-home placements, and it was almost impossible to find respite workers. I last saw her when she was transitioning to adult care. There are no easy ways to train adult physicians to specialize in developmental disabilities. Anyone who takes care of children AND adults, such as family medicine, Med/Peds providers, nurse practitioners, or physician assistants, is a great option for primary medical care, but finding a psychiatrist, who can care for all ages, to also manage her medications was exceedingly difficult.

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Regardless of ability level, underemployment in ASD is very common (Shattuck et al. [6]). Although academically able to acquire advanced, terminal, or technical degrees, success in the work world depends a lot on one’s social skills. It has been said that it is easier to find a good job for a person with intellectual disabilities and good social skills than for a cognitively able adult with ASD. This is just common sense. For example, an adult with Down syndrome, who has ID, but is friendly, who both enjoys the company of others, and whom others find enjoyable, is just easier to employ than a bright, but socially isolative adult with ASD. To Disclose or Not Disclose  This is a big decision for the adult and family. Do you tell a potential employer of your disability or do you try to “pass”? This is mostly a question for those who lack obvious signs of autism such as rocking or hand flapping and who might come off as “a little quirky” or “slightly anxious.” The answer will vary with the individual, the type of job, and the number of successful job offers that happen without disclosing. Sometimes individuals will get a job offer and start work. If things go well, then nothing needs to be said. If the individual starts to get negative comments from supervisors, blaming them for being “lazy,” “oppositional,” or “inappropriate,” then the conversation needs to happen at a job performance review, prior to termination. Ideally, the individual will be able to explain his or her disability to the employer. The person may have an already written explanation of their disability and needs that they can hand to their supervisor. Small supports can be extremely helpful, such as creating a “to-do” list, or having an option to wear headphones, and can make or break a work situation. If the individual can advocate for his or her own needs, that is great, but often the help of a healthcare provider, counselor, or parent may be needed. A little understanding can go a long way towards successful employment. Mental Health  Finding mental healthcare for adults with developmental disabilities can be like looking for proverbial hen’s teeth. Even in well-resourced communities, the number of adult providers who are knowledgeable about the needs of developmentally disabled adults is too small for the population in need. The reason is similar to the reason for the limited amount of research—there is no adult equivalent to a developmental pediatrician. Child and adolescent psychiatrists are often double boarded in the care of children and adults, but those who know this population well are still few in number. Psychological services may be accessible, if covered by the individual’s insurance or private pay. Treatment of mental health issues in adults with ASD parallels treatment in children, targeting symptoms rather than core features of ASD. Across adult life, 79% of those with ASD met criteria for a psychiatric disorder at least once in their lives, most commonly anxiety and depression (Lever [7]). The prevalence of co-occurring anxiety and ASD has ranged from 11% to 84% (Postorino [8]). If you have both ASD and ADHD, the likelihood is even higher for both anxiety and depression. The risk of depression lingers, especially if the adults do not find their place in the world. If medications are used, the same precautions for adults

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with ASD hold as for more neurotypical patients. There is the tendency for prescribers to “start low, and go slow” with psychotropic medications in this population. Suicidality is discussed in Chap. 17 (section “Adolescence: Social Success, Bullying, Dating/Sexuality, Mental Health, and Driving”).

The Lost Generation Many adults, who grew up when autism was only diagnosed as a severe disability, would now be considered on the spectrum but have never had this diagnosis to explain the many challenges they have had during their lives. Other adults with more delays were diagnosed only with cognitive or intellectual disabilities. It is worthwhile to think about adults in your practice, who would now be helped by a diagnosis of ASD. Lai Meng-Chuan and Simon Baron-Cohen describe all the people who did not receive an ASD diagnosis in the past, who would clearly now fit on the spectrum, as the “lost generation” (Lai and Baron-Cohen [9]). This means that there are significant number of adults in the population, who may have ASD underlying their social, behavioral, or mental health challenges but do not have a diagnosis. Considering that the prevalence of ASD went from 4–5/10,000 to 1/59 early in 2018 to 1/40 later in the year, it is clear that dramatic changes in diagnostic criteria and the mental construct of autism would mean that there are a LOT of adults who would have been classified as being on the spectrum as children. Some have tried to point to an “epidemic of autism” meaning that the actual numbers have increased dramatically over time. For those who have worked through this transition, the change in numbers directly correlates with our expanded notion of what autism means. Story Theron was a very early reader, who had good comprehension and excellence at math from preschool age on. His tested IQ was in the high 130’s, with a much lower adaptive skill score. His behavioral and social challenges were first attributed to “being so smart” and then, by the time he was seven, to ADHD.  A positive response to stimulants sealed that diagnosis, but never fully explained his significant social impairments. In retrospect, he met 10/12 DSM-IV criteria for autistic disorder. In the 1980s, he fell outside the construct of the idea of “autism.” He finally received a formal diagnosis of ASD in his 30s. He told his mom “You know, this explains a LOT.”

For those of you who see adults with mental health issues, think of the possibility of ASD if your patient has had lifelong social challenges, challenges working with others, or reports limited friendships. Adults who seem very bright but are underemployed may have delays in adaptive abilities, a combination often seen in ASD. Also

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ask yourself “Could my patient have ASD?” if someone new to your practice comes in with multiple mental health diagnoses, especially if they have a history of underemployment. The co-occurring diagnoses for adults with ASD are similar to those conditions covered in Chap. 19 (section “Differential Diagnostic Conditions”) and include: • • • • • • •

Anxiety disorders Social anxiety disorder Depressive disorders OCD Bipolar disorder Behavior disorders (adjustment, conduct) ADHD

In addition to these, adults with personality disorders may also fall on the spectrum (Lai and Baron-Cohen [9]). If rule-bound eating continues into adulthood, your patient may have a diagnosis of an eating disorder. Adults with ASD who are not successful may turn to substance abuse to alleviate their pain, but in adolescence, drug use is actually lower than in typically developing peers. It is critical, but not absolutely necessary, to have access to any childhood history or records. ASD is developmental, and therefore there are differences early, whether they are noted or not. Mental health disorders do not typically begin with histories that date back to 0–5 years. Sometimes an adult might know if their parent told them they were late to talk, or needed some extra help in school early on, maybe even speech therapy. Another adult may not recall much about their childhood, or might not have access to family members, which makes the diagnostic process harder. One would only look for ASD if the social or communication issues interfered with daily function, like work or school, needed for successful adult living. All of the characteristics of ASD can be found individually in the general population (Skuse [10]). People can be quirky, but if they are successful adults, without needing much support, they may not need a diagnosis. However, they still might find an explanation for their struggles helpful. Diagnosing adults is complicated by the fact that almost all “autism specialists,” whether psychologists or developmental pediatricians, usually evaluate and care for children, not adults. Even if you suspect ASD, trying to find a subspecialist who is interested in adults is a significant challenge. There are screening tools and autism tests for adults, which could be helpful in directing your patient to specialized services. Contacting your local autism parent support group could lead you to practitioners in the area, who see adults with ASD. Parents know what is available far better than we do. The individuals not identified in the past include those with a primary diagnosis of intellectual disability, who may also have ASD. When I first started practice in the 1980s, we did not have a very sophisticated sense of who had autism and who did not. If a child tested below 70 on IQ and adaptive skills tests, then they had “mental retardation.” I remember many children who received the MR diagnosis, who also had unusual interests or abilities. One child won a geography bee,

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as maps were his special interest. Another child was an excellent reader but had poor comprehension. Another child could remember math tables, but not use that information. We called these “splinter skills” and attributed them to “rote memory,” which was clearly a less well-developed memory than other kinds. In retrospect, I know these children had an autism spectrum disorder in addition to their ID. Those children are in their 30s and 40s now, possibly presenting to your practice with life challenges. Another diagnosis we made instead of autism was called “Organic Brain Syndrome (OBS).” In the era before everyone understood that autism was a neurodevelopmental disability, any child who seemed autistic but might have had epilepsy, or any other neurologic symptoms, received this OBS diagnosis. Information was emerging and being acknowledged that about 30% of people with autism (as defined in the 1980s) would have a lifetime likelihood of seizures. I remember this little girl, about 8 or 9, who did not have any friends, had idiosyncratic and intense interests, could talk about her interests in detail and did not care if adults were listening to her or not, who had severe complex migraines, and therefore had OBS. Spreat (Speath [11]) refers to the population of people with intellectual disabilities who also had an ASD as a “hidden population.” If we combined the “hidden” and the “lost” people with ASD, the prevalence of ASD in adults should be close to that of children. The presentation of females with ASD is covered in a separate chapter (Chap. 20), as is gender identity (Chap. 21) in this population. Underdiagnosis of females also contributes to the population of the “lost generation.”

Adult Outcomes This subchapter summarizes literature on adults with ASD. The reader must recognize that all published studies of adults represent children who were diagnosed with autism/ASD about 20 years in the past. As the definition broadens, outcome data should improve. “What will my child be like as an adult?”

During the diagnostic appointment of a young child, I answer that question very briefly, because too much is unknown at that time. Almost all options are still on the table at that time, and we cannot predict how well any one child with ASD will do. It is important for you to know what is known about adult outcomes, because you can help support and encourage parents throughout the life of that individual. Regardless of the age of the child at diagnosis, many parents’ first question relates to what the future will hold. While they know realistically, that no one can tell the future, they often want a best guess. The older the child, the more likely we can get a handle on future cognitive and language abilities. The younger the child, the possibility of language development is still on the table, a major determinant of outcome.

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The idea of adult independence is a spectrum, not unlike the autism spectrum. There are children, who, as adults, will be totally dependent on adults for all self-­ care and daily living activities. There are children, who, as adults, will be very independent, working full time and managing independent living and financial matters. There is every possibility in between. All of us know parents, whose neurotypical children, who seemed otherwise fine when younger, never quite found their adult niche and still need parental support. Almost all of our adult children can use some help with tuition, healthcare, or car payments from time to time. Many babysit for grandchildren, all of which create and nurture the bonds of family. Very few parents will refuse a call for help from their offspring. The situation with children with ASD is that the diagnosis never really goes away completely. There are some, who may be considered “recovered,” which can be in the eye of the beholding researcher or clinician. The vast majority of people with ASD still struggle with some aspect of life that stems either directly from this diagnosis or indirectly from co-occurring conditions, like anxiety or depression, ADHD, or communication impairments. Almost all adults with ASD have some social differences, which is to be expected. Being a successful adult requires a lot of flexible thinking, adapting to change, and dealing with a myriad of social interactions and persistent attention. It requires the ability to organize, plan, and execute activities of daily living, often impaired, even if adults do not strictly “meet criteria” any longer. All of these factors are affected by the diagnosis of autism spectrum disorder. When I try to address this question for parents, I try to include the following: 1 . I can’t tell anyone’s future. 2. Parents will have a better idea of the depth of the challenges by first or second grade, when cognitive testing becomes more predictive of future academic achievement. (IQ predicts academic ability, not happiness or success.) 3. Most children with a diagnosis on the spectrum will learn to use verbal speech. 4. Most children with autism will be toilet trained. 5. Children who do not develop verbal speech before the age of 7 (also first or second grade) are very unlikely to develop functional communicative speech after that. We never say never, but statistically, it becomes very unlikely. 6. There are community agencies that provide living and working support to adults with developmental disabilities. 7. Adults with autism can continue to make progress throughout their lives. 8. Parents will always be important to this child. I don’t give percentages, because the numbers range widely among studies. Adult outcomes studies, by definition, are based on diagnoses made 20 years or so in the past. The concept of autism has changed dramatically in whatever time frame that includes. The broader the spectrum, the more mildly affected children are diagnosed, and the better the overall outcome should be for the total population. Even the rate of intellectual disability in autism went from 75% when I started, dropped to 50% a few years ago, and is dropping further to 31% (MMWR [12]). We really

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don’t know whether children who have had 4 years of early, intensive behavioral intervention will be more successful adults. While I expect those studies to be emerging now, there are many variables that determine independence. My clinical impression is that those who have had early intensive intervention are doing better than those who did not. What determines “success” or “very good outcome” is typically defined at one particular point in time. “Employed” or “living with parents” is a thing that can change over time. Most of these studies are snapshots of a population at a moment, so nothing can be used meaningfully to say if any one person will achieve these goals. “Success,” especially measures such as “social success,” is usually defined by non-autistic people. There is increasing effort to define measures of quality of life in terms that are defined by people with ASD. Research Findings: The long-term outcome studies vary widely because of the wide heterogeneity of study groups and also the changing concept of autism over time. Results also vary by nation and cultural support. For example, Mormon society was associated with a higher percentage of good outcomes than typically reported (Farley and McMahon [13]). Results also depend on whether studies combine “very good” with “good” or leave categories separate. It is very hard to compare these studies, nicely reviewed by Howlin and Magiati [14]). Cognitive ability, as expected, is an important predictive factor. People with autism, intellectual disability, epilepsy, and nonverbal individuals are the least likely to find fully independent adult outcomes. With or without additional disabilities, “Overall outcomes for adults with ASD in terms of jobs, relationship, independent living and mental health are considerably poorer than for same age peers” [14]. Adaptive skills, those everyday living skills that allow us to use our intelligence for self-care, problem-solving, and flexible thinking needed to navigate the world, are important determinants of adult success. Children and adults with autism can have significant impairments in adaptive measures regardless of IQ. This may explain why very bright adults with ASD are often underemployed; their adaptive skills hinder their ability to be as successful as their cognitive levels would suggest. At least one study found that for those with higher IQs, adaptive skills were typically lower than cognitive abilities. However for those with lower IQs, their adaptive skills were somewhat better (Kanne et  al. [15]). Although the authors didn’t explain, I can imagine that children with lower IQs may receive more training in everyday self-help and living skills that can exceed their predicted level of function. The adaptive skills required by those with average intelligence cannot as easily be trained, as daily life presents ever new situations requiring flexible responses. There are a few studies that associate maternal warmth, praise, and positivity with better adult quality of life, physical health, independence in daily living skills, decreasing externalizing behaviors,and better executive function (summary in Howlin) [14]. It is important for mothers to know that their efforts can have

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l­ ong-­term, positive effects. You can tell them this, based on evidence, and give them kind and true words of support. Adult outcome studies are also affected by inclusion of relatively few women. There are studies that find that there is no significant impact of gender on autism symptoms or social outcomes, and others, who feel that women with ASD, have poorer social outcomes. There are others still, who suspect that mildly affected women are underdiagnosed, and possibly more mildly affected, with better adult outcomes. At least half of study populations will have some degree of mental health challenges, and 80% to almost 100% had had a mental health diagnosis sometime during their lives (consistent with child and adolescent findings). The degree to which lives are affected by these issues is variable from study to study. Studies on substance abuse vary from lower than average to higher. Lower occurrence in adolescence makes sense because of more limited exposure to peers and lesser importance of peer pressure for some. Mortality does seem to be affected by an autism diagnosis. Mortality rates may be twice as high as the general population and mean age of death much earlier: 58 years in those without ID and 39.5 years in those with ID. Most common causes of death were physical health and not suicide. The control group died at a mean age of 70 (Hirvikoski et al. [16]). For those with ASD and ID, the most common cause of death was epilepsy. The rate of suicide is higher in cognitively able adults with ASD, but the rates of attempted suicide or suicidal ideation vary widely among studies. Asking about suicidal thoughts should be part of every mental health review of systems for this population. Parents rarely have asked me about mortality rate, but they have an intrinsic sense of concern regarding the child’s lack of awareness of danger and safety. It is important to let the parents of young children with ASD know that all possibilities for adult outcome exist but that success requires much more energy on the part of the parent and the individual with ASD than either of them expected when the child was born. Unless the young child has severe developmental delays in multiple areas of function, all outcomes are still possible. All any parent can do is the best they can, given the resources they have to work with, and that is all anyone can expect of them. The reassuring thing for me is that most parents do their best, and saying this out loud to them can be comforting.

References 1. Volkmar FR, Reichow B, McPartland JC. Autism spectrum disorder in adolescents and adults: an introduction. In: Adolescents and adults with autism spectrum disorders. New  York: Springer; 2014. p. 1–13. 2. Tincani M, Bondi A, editors. Autism spectrum disorders in adolescents and adults: evidence-­ based and promising interventions. New York: Guilford Press; 2014. 3. Hendricks DR, Wehman P.  Transition from school to adulthood for youth with autism spectrum disorders. Focus on Autism and Other Developmental Disabilities. 4 ed. SAGE PublicationsSage CA: Los Angeles;. 2009;24(2):77–88.

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4. Krauss MW, Seltzer MM, Jacobson HT. Adults with autism living at home or in non-­family settings: positive and negative aspects of residential status. J Intellect Disabil Res. 2005 Feb;49(2):111–24. 5. DiverseAbility. Accessed on 1/27/19. Available from https://www.diverseabilitymagazine. com/. 6. Shattuck PT, Narendorf SC, Cooper B, Sterzing PR, Wagner M, Taylor JL, American Academy of Pediatrics. Postsecondary education and employment among youth with an autism spectrum disorder. Pediatrics. 2012;129(6):peds.2011–2864–1049. 7. Lever AG, Geurts HM.  Psychiatric co-occurring symptoms and disorders in young, middle-­aged, and older adults with autism spectrum disorder. J Autism Dev Disord 4 ed. 2016;46(6):1916–30. 8. Postorino V, Kerns CM, Vivanti G, Bradshaw J, Siracusano M, Mazzone L.  Anxiety disorders and obsessive-compulsive disorder in individuals with autism spectrum disorder. Curr Psychiatry Rep. 4 ed. Springer US;. 2017;19(12):92. 9. Lai M-C, Baron-Cohen S.  Identifying the lost generation of adults with autism spectrum conditions. Lancet Psychiatry. 2015;2(11):1013–27. https://doi.org/10.1016/ S2215-0366(15)00277-1. 10. Skuse DH. Is autism really a coherent syndrome in boys, or girls? Br J Psychol. 2009;100(Pt 1):33–7. https://doi.org/10.1348/000712608X369459. 11. Spreat S.  Is there a hidden population of adults with autism spectrum disorder? Autism. 2013;03(03). https://doi.org/10.4172/2165-7890.1000119. 12. Christensen DL, Braun KV, Baio J, Bilder D, Charles J, Constantino JN, Daniels J, Durkin MS, Fitzgerald RT, Kurzius-Spencer M, Lee LC.  Prevalence and characteristics of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites United States, 2012. MMWR Surveill Summ. 2018;65(13):1. 13. Farley M, McMahon B.  Range of outcomes and challenges in middle and later life. In: Adolescents and adults with autism spectrum disorders. New York: Springer; 2014. p. 211–38. 14. Howlin P, Magiati I. Autism spectrum disorder: outcomes in adulthood. Curr Opin Psychiatry. 2017;30(2):69–76. 15. Kanne SM, Gerber AJ, Quirmbach LM, Sparrow SS, Cicchetti DV, Saulnier CA. The role of adaptive behavior in autism spectrum disorders: implications for functional outcome. J Autism Dev Disord. AGS. Springer US;. 2010;41(8):1007–18. 16. Hirvikoski T, Mittendorfer-Rutz E, Boman M, Larsson H, Lichtenstein P, Bölte S. Premature mortality in autism spectrum disorder. Br J Psychiatry. Cambridge University Press;. 2016;208(3):232–8.

Part V

Special Topics in Caring for the Child with ASD and the Family

Chapter 19

The Diagnostic Borderlands of the Autism Spectrum

Differential Diagnostic Conditions Most children do not fit neatly into our diagnostic boxes. When children present with classic forms of the conditions we know, the diagnostic process is much clearer. If you walk into a room and a nonverbal 3-year-old boy is flapping his hands, avoiding eye contact, and walking in circles in your office, you know that child has autism. But development is a complex process, and when a child’s development does not follow a typical course, there are many ways to describe or label that difference. Like the old adage “when you have a hammer, everything looks like a nail,” we see what we are trained to see. If we have seen more children with Tourette syndrome, we may see abnormal movements through that lens. If we have seen a lot of children with ADHD, then hyperactivity, inattention, and impulsivity all look like ADHD. All of these symptoms are also seen in ASD. We look at children from our own vantage point. An OT may see sensory processing problems, a speech pathologist may see auditory processing problems, and mental health providers may see anxiety, ADHD, or OCD. We all look through the lenses of our own training and experience (Fig. 19.1). Parents’ presenting concerns can also lead you down different pathways. If a parent comes in with primarily behavioral concerns, you might be more likely to diagnose ADHD. If the family has had a recent stressor, you might choose Adjustment Disorder. For all the following conditions, the major difference is that children with ASD have early symptoms of developmental, language, or social delays. Children only have so many ways to show us differences, so it is not surprising that symptoms may be seen in more than one condition. Think of overlapping Venn diagrams, an idea that suggests clarity. It is perhaps more appropriate to think of overlapping clouds (Fig. 1.2). The following should be thought of as developmental descriptions, not truths. Remember that anything that disrupts brain development will result in a higher prevalence of ASD. If a child meets criteria for the following, then those diagnoses © Springer Nature Switzerland AG 2020 T. Iyama-Kurtycz, Diagnosing and Caring for the Child with Autism Spectrum Disorder, https://doi.org/10.1007/978-3-030-26531-1_19

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Fig. 19.1  We see what we are trained to see

can be used in addition to ASD. None of these tell us about biological causes; we will learn more about the possibilities with emerging research. Sometimes, adding diagnoses to ASD is just practical. For example, when I prescribe stimulants for a child, our electronic medical record prefers an ADHD diagnosis to be present. (Perhaps it does not “prefer” anything, but I just ascribe persnickety emotions to it.) So many factors play into inattention that most children with ASD can meet those criteria at some point in their lives. Sometimes, you can tell that one of these diagnoses is primary, or the main condition that causes problems for the child, and the social or attentional impairments can be secondary. Some children may be diagnosed with one of these conditions before the more inclusive diagnosis of ASD has been made. In the literature, this has been labeled “misdiagnosis,” but I’m not sure that is always the case. Sometimes children do meet criteria for the conditions that show up in childhood, like ADHD, and it is appropriate to use that diagnosis. Sometimes we just don’t ask the right questions, or parents do not report the symptoms we are seeking, and we end up somewhere else. Remember that the “bigger box” or “forest” (depending on your preferred metaphor) could also include ASD. The following conditions can have symptoms that overlap with ASD: Intellectual Disability  An Intellectual Disability (ID) is a significant delay in cognitive function, co-existing with a significant impairment in adaptive abilities. Children with global developmental delays in early childhood are learning at a slower than expected rate. If this slow rate is significant (greater than −2SD) and persists into early elementary school, that child may receive a diagnosis of an intellectual disability (ID) or a cognitive disability (CD) made by a psychologist either in

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a clinic or through a school district. About 30% of children with ASD will also meet criteria for ID. In the past, only ID (then called mental retardation or MR) might have been diagnosed without the current concept of the autism spectrum. About 28% of adolescents with intellectual disabilities were found to have autism [1]. There is some controversy about whether children with severe intellectual disability should also be given a diagnosis of ASD, with the thought being that many severely impaired children may also have repetitive behaviors and these repetitive behaviors may not indicate a second diagnosis of ASD. Children with severe delays will also have social and communication delays, and whether or not that is greater than their intellectual delay is hard to figure out. I have definitely seen children with severe ID, for example, a 5-year-old with 1-year-old developmental skills, who had lovely social abilities for a 1-year-old and therefore did not have autism. Current practice would recommend that if a child meets criteria for autism spectrum disorder and intellectual disability, then the child should have both diagnoses. Learning Disabilities  A Learning Disability is an impairment in some aspect of learning that coexists with generally average intelligence. The most well-known LD is dyslexia, but the impairment can be in other aspects of learning. It is unusual for a child with ASD to have dyslexia. It is as if the software programs for reading and decoding, often well-developed in ASD, are not working for the child with dyslexia, who has trouble learning to read. Children with dyslexia have difficulty with phonics and associating sounds with letters, but do better at understanding the meaning of text, especially when it is read out loud to them. Children with autism seem to acquire the ability to read and decode, sometimes without known specific instruction, sometimes very early in life. They struggle more with understanding the meaning of language [2]. I have seen a few children with ASD and dyslexia, but often there is also a family history of dyslexia, so the child has two challenges. If one thinks of social skills as an area of learning, some would argue that autism itself is a learning disability in social learning. Nonverbal Learning Disability (NVLD)  This is an interesting area. When I first learned about NVLD in the 1990’s, there were descriptions of these children as having social impairments along with difficulties with nonverbal learning. These students may have difficulties with visuospatial concepts or math, but function in the average range for verbal skills. The descriptions of related characteristics were very similar to children with high-functioning autism. I think that the initial descriptions were made by neuropsychologists who used their lens of testing to separate out groups of children into those who had a split between their verbal and nonverbal abilities, with better verbal development. I believe that some children with ASD, especially those with overall good cognitive development, but who had better verbal than nonverbal scores on testing, were described in this early literature. It seemed to me to be another case of using different glasses with which to look at the same child. Given our current concept of ASD, I think these were likely children with ASD who happened to have better verbal than nonverbal skills.

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The other interesting thing about NVLD is that the rate of diagnosis depends a lot on whether your local pediatric neuropsychologist uses the construct of NVLD or not. It was not common in our area, but very common wherever the tester endorsed this clinical group. This is an important idea—the rate of anything clinically described depends on who makes the diagnosis. Even the rate of autism diagnoses depends on geography—who makes the call in certain areas, and who does not. Clusters of cases are not always epidemiologically interesting, as it may be a reflection of who in the area of the cluster is making these diagnoses. Childhood Apraxia of Speech (CAS)  Children who have a great deal of difficulty organizing their speech motor system to produce intelligible speech may have childhood apraxia of speech. Some children with autism appear to have this difficulty as well at a young age (2–3 years) but may have a burst of speech and language between 3 and 5 years that leads them away from this concern. Some children with autism may have a co-occurring dyspraxia. Specialists in this area do not diagnose dyspraxia before age 3, because of the difficulty of testing young children and their inability to follow or cooperate with complex verbal requests. Children with ASD studied at 4–7 years of age had a wide range of speech problems, but were not more likely to have CAS than other childhood speech disorders [3]. The approach to treating unclear speech might be different, with some speech therapists providing several weeks of intensive speech therapy for apraxia followed by a break. With ASD, the approach tends to be more consistent therapy over time, combining learning social language in addition to speech therapy. The therapist will in both cases look for the best way for a child to communicate at that time (signs, picture communication systems, or computer-based approaches). Developmental Language Disorder  Speech pathologists refer to a language “disorder” when a child has uneven abilities within the communication realm. A “delay” is just that – appropriate speech and language for a younger child than the patient’s age. Children with ASD can be described as having a language delay, as they may also have global developmental delays, or they may have a language disorder, with clear speech and long enough sentences for age, but low receptive language abilities. While many children with ASD can be described as having a language disorder, we need to take several steps back and look at the bigger picture of the rest of the child’s behavior and development. There are single trees in the forest, but the forest may have a different name that includes the tree. Another condition that should be addressed here is social (pragmatic) communication disorder, which is included in DSM-5. These are children, who have the social language characteristics of children with ASD, but who do not have restricted or repetitive behaviors (RRB’s), interests or activities, either presently or in the past. This seems to me to be rare, and that some of these children have ASD, but the diagnostician did not elicit the history of RRB’s, for whatever reason(s), which could be related to characteristics of clinicians or parents. RRB is a huge category that includes more than repetitive flipping or spinning objects. RRB’s now include repetitive movements, echolalic speech, insistence on sameness, focused interests/

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passions, and hypo- or hyperreactivity to sensory experiences. This is a change from DSM-IV and could reduce the number of children with social (pragmatic) communication disorder. Children with diagnoses of SPLD and not ASD will have limited access to treatment, when much of the treatment for ASD would clearly help them. ADHD  Children with significant ADHD may also have poor social skills. Their impulsivity may be annoying to other children. Children with both ADHD and ASD appear to have short attention spans. One of the differences is that the child with ADHD has trouble paying attention. Children with ASD pay attention to what interests them and are less concerned about what adults want them to attend to. It is fairly common for children with ASD to receive a diagnosis of ADHD (could be hyperactive/impulsive, inattentive, or combined), especially during elementary school years. Sometimes I use this diagnosis in ASD to clarify the need for stimulant medication trials. Inattentive ADHD deserves a longer discussion (see Chap. 17: “School-Aged Issues”), but a capsule is presented here. For me, inattentive ADHD is the hardest developmental diagnosis to make, as it is a “rule out” condition. Once you have ruled out the other options, you can more definitively diagnose inattentive ADHD. When teaching residents, I often asked them to list everything that could make a child appear inattentive in a classroom, and we eventually get to the following list: • • • • • • • • • • •

Hearing or vision impairment Food insecurity (hunger) Anxiety (separation, social or generalized anxiety) Depression OCD (spending time focused on a detail) Child abuse or neglect (including sexual abuse, which has to be asked about specifically) ASD (children not attending to verbal language or nonverbal cues and/or thinking about their own interests.) Chronic illness Constipation Epilepsy (absence spells) Inattentive ADHD

Sensory Processing Disorder  Children who respond in atypical ways to incoming physical experiences (one of the five senses) may receive a diagnosis of sensory processing disorder. Not everyone believes that this is a “real” diagnosis but probably more disagree on whether it can be effectively treated. Usually, the atypical reaction is an under- or overreaction to the stimulus in question or sounds or sights can be perceived as touch or as other senses. Neurologists have long described “synesthesia” where one sense is perceived as another or in more than one sense [4]. Synesthesia has been reported in individuals with Asperger syndrome, although that might be because nonverbal people with autism cannot tell us their experiences.

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Sensory symptoms are such a well-known phenomenon that they are now one of the diagnostic criteria for ASD in DSM-5. There are children who have SPD without ASD. In my experience, these children often have anxiety, but no one knows whether being anxious makes you more reactive to say, the noise of a spoon dropping, or whether you become anxious because of the overwhelming sensory experiences. The presence of sensory symptoms does not make an ASD diagnosis, but it is one of four behavioral criteria, two of which need to be met. Sensory symptoms do not refer to impairments of function, such as low vision or hearing impairment, but rather to how the brain interprets (processes) those sensory signals. Anxiety and Mood Disorders  Almost all children with ASD have some degree of anxiety about a variety of experiences. Social anxiety, panic attacks, and reactivity to everyday sensory events are very common in this population (see Chap. 17 “School-Aged Issues”). Mood disorders are very common comorbid diagnoses in teens and adults with ASD. Depression can be a reaction to repeated social failure and lack of ability to make connections with peers or a combination of endogenous potential and challenging life events. Childhood Bipolar Disorder  This is a poorly agreed upon category, which has many behavioral features that overlap with ASD and ADHD and mood dysregulation. Children in this category should not have significant language or developmental delays. If they do, think of a category that includes language delay. Premorbid or Childhood Onset Schizophrenia  It is uncommon for young children to raise a concern of schizophrenia, in which the onset is usually adolescence. However, I once saw a 6-year-old who presented with question of autism. She was withdrawn, lacked interest in peers, but had no early language delays or differences. She had a maternal uncle with schizophrenia; and by age 7, she had paranoid thinking, “Mom, those girls are going to kill me,” after passing a group of girls on the sidewalk. She did not have any developmental delays and was recalled as a social toddler and preschooler. Please consult your child psychiatry colleagues if this question comes up. There may be interest and more knowledge about treating children in this “premorbid state” with the hopes of modifying the ultimate severity of the schizophrenia. Early diagnosis could be important here. Schizophrenia can occasionally be seen in adolescents and young adults with autism spectrum disorder, but it develops in the same manner as expected for ­schizophrenia. An individual may have both diagnoses, which makes a good or fair outcome even more challenging. Obsessive Compulsive Disorder (OCD)  This is yet another area of controversy. Do children with autism who do the same thing over and over actually feel compelled to do this? Do they feel relief once they complete a ritual? For children with communication impairments, this is hard to ferret out. Some have reported response to OCD symptoms with the same medications used for OCD, but that still does not answer the question.

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The Shy Child  Many parents come for an ASD evaluation but tell me that their child is “just shy.” They may also say that they themselves were shy as children and may still be shy. Remember that anxiety disorders are more common in parents of children with ASD, so this does not really help one way or the other. I get the most information about telling a shy child from an autistic child in the first 30 seconds after I enter a room. When shy children see me, they leave what they are doing and find safe harbor by their parents. If they are already sitting with their parents, they may, upon seeing me, hide their faces or hide behind the parent and after a while, peek out. They may be slow to warm up, but they usually warm up. Some may not warm up, but shy children remain wary and would never be described as “indifferent” to strangers. Autistic children may notice that I enter a room, but do not return or react to a social greeting, and may be completely indifferent to whether I am there or not. Some autistic children do go to their parents when I enter, but do not warm up over time. Also watch to see whether they need their parents reassurance or whether they have simply seen me as a greater threat and their parents as safer ground. Adjustment Disorders  These conditions should have the history of a clear adverse event or stressor and symptoms should develop within 3 months of the event and resolve within 6  months after the event. Normal grieving is not diagnosed as an adjustment disorder. Oppositional Defiant Disorder (ODD)  ODD is a DSM-5 diagnosis that implies a pervasive and chronic lack of cooperation with adults that exceeds the bounds of normal. It is often a precursor to conduct disorder. Children with ODD are angry or irritable, argumentative or defiant, and show vindictiveness towards at least two people in the previous 6 months. If you look at these symptoms through the lens of autism, you can easily see an irritable infant and young child with sensory processing symptoms, who does not cooperate with adults but because they do not understand social expectations. Vindictiveness is less common in ASD, but is only one of eight criteria, four of which need to be met for an ODD diagnosis. I have seen many children with ASD, who come for an autism evaluation already diagnosed with ADHD or ODD. If we set children with ASD (or any children) up to chronically fail rather than succeed, ODD can be the result. This also means that we may be able to divert the development of ODD with appropriate support and expectations for the child with ASD and possibly other conditions. Reactive Attachment Disorder (RAD)  When the history of early abuse and neglect is present, it can be hard to know if a child has RAD or ASD or possibly both. The differences in attachment to others, disruptive and dysregulated behaviors, and “sensory” issues overlap to a large degree. Most children with RAD do not seek out adults for comfort and do not seem to respond to comfort when distressed. The symptoms of “limited positive affect” and “minimal…social responsiveness to others” can be seen in both RAD and ASD. The child with RAD must have “experienced a pattern of extremes of insufficient care” in their history.

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I used to use the notion of “undifferentiated attachment,” (previously called “promiscuous attachment”) as a good way to tell autism from RAD, but that has become its own diagnosis of “disinhibited social engagement disorder” in DSM-5 [5]. It is rare for a child with ASD to come right over, climb into my lap, and settle in, right after I say “hi.” The children with disinhibited social engagement must also have a history similar to those with reactive attachment disorder. There is the concept of “institutional autism,” one we have seen when cameras go into poorly staffed orphanages in poorly resourced countries. There is a roomful of little ones in cribs, screaming, rocking, and head banging. There is no doubt that these children could have social and communication delays and behaviors that meet ASD criteria. We can never know if that child would have developed autism anyway, or whether they were abandoned because a mother perceived some differences in her child early on, or whether social isolation and inadequate caretaking causes the clinical picture, which seems like the most important factor. Because these children have missed so many developmental windows, when interaction and communication were necessary, this experience is a hard one from which to recover. Adverse childhood experiences (ACEs) can lead to post-traumatic stress disorder. Similarities with ASD include mood instability and easily triggered emotional and behavioral eruptions. Unless the adverse experience also included chronic neglect, the child with a traumatic history and PTSD should not have the developmental delays and differences seen in ASD. For example, a child with pronoun reversals and echolalia is more likely to have ASD. A child can have both, with the right history. It is interesting to note that Korean families (in Korea) often preferred a diagnosis of RAD over ASD because, even though it blames the mother, it is not genetic, which could affect the fortunes of the whole family and RAD can be worked on, and is not considered a “disability” [6] (see Chap. 22). Story [Something I will never do again: watch a video of a child in an orphanage and tell prospective parents what I saw of their development. I was once approached by a colleague, who was planning on a foreign adoption. She asked me to watch a (VHS) video of a toddler, who was rocking and screaming, nonverbal, and noninteractive with staff. I told them what I thought, and that child did not get adopted, a thought that still haunts me. Never again.] Catatonia  With DSM-5, the diagnosis of autism spectrum disorder asks for “specifiers,” meaning to clarify by stating “with or without intellectual disability” or “with or without language disorder.” One of the specifiers is “with catatonia,” which surprised me, as I had never thought about whether a patient of mine with ASD had catatonia. Turns out, like everything else, the definition of catatonia has changed quite a bit in the last number of years. Catatonia used to be defined by a paucity of movement, usually in patients with severe mental illnesses like schizophrenia. There was the tendency to leave a limb

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where someone else placed it (catalepsy) and a waxy rigidity of tone. Now, there are 12 criteria, only 3 of which need to be met to use the term catatonia, which now includes episodes of increased movements as in periods of agitation, stereotypic movements (repetitive non-goal-directed movement), repeating someone else’s speech (echolalia), and the repeating of someone else’s movements (echopraxia). According to the criteria listed, I think the following three criteria could be found in many children with ASD: stereotypic movements, episodic agitation, and echolalia. I would think that catatonic movements if associated with ASD should be new movements (or lack of them), not something there from early childhood. The importance of thinking about catatonia is that there are medical reasons why a child with ASD could develop these movements, including neuroleptic malignant syndrome, which could be secondary to a psychotropic medication. Whether autistic catatonia is the same as the catatonia of mental illness is being debated in the literature. Munchausen by Proxy  When the “illness” that the MBP parent describes centers around behavioral symptoms, such as those seen in autism, it can be hard to detect. When the child is in clinic, though, you may find better than expected social relatedness which contrasts with the parent history of aloof attachment or self-injurious behaviors. When the parent suspects you are closing in on the truth, they tend to abruptly change clinics or move. Sociopathy or Antisocial Personality Disorder  These are not exactly the same, and sociopathy is not a DSM-5 condition. They have similar characteristics, with lack of empathy, actions that feed personal gain, antagonism, or disinhibition. This is only diagnosed in adults. The school shooter, who killed 17 people in Florida in 2018, was said to have “autism and ADHD” and had a history of killing animals for pleasure. This is very uncommon in ASD. Children with ASD can hurt animals, but I have never met a child with ASD who hurt animals on purpose. Hurting animals by accident, certainly. One child threw a dog off a deck because he thought it would fly, like in a movie he saw. Another child squeezed a hamster, killing it, but not on purpose. Sometimes a child having a meltdown will lash out at anything nearby. Most animals will know not to be in the area when this is occurring, but some have been hurt. I have never seen a child with ASD, who would choose to hurt an animal. Animals are generally better companions for children with ASD than many people, and ­therapy or companion dogs (or just “good dogs”) have helped children with ASD sleep for the first time or form the basis of friendship with others. Sociopathy is most closely aligned with antisocial personality disorder. Psychopaths are slightly different, and some think psychopathy may be more genetic and sociopathy related to environmental influences. Neither has a “moral compass.” Children with ASD more typically have an extreme moral compass, such that things are clearly right OR wrong. They may be strict rule followers, to the point of turning in fellow students, whom they believe to have broken a rule.

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Fraud  I have once had a mother who clearly seemed to be seeking a diagnosis for her child so she could collect disability. The clue was that the mother said her 2-year-old was “severely delayed” and what I saw was a developmentally appropriate 2-year-old. When I called the pediatrician and shared my impression, he was happy that I confirmed his suspicions. Each of these topics, of course, could fill many volumes. I am commenting on how these diagnoses come into consideration during an evaluation for autism spectrum disorders.

 he Older Child: Late Diagnosis and Primary T Behavioral Concerns Whenever I see an older child with multiple DSM-IV or DSM-5 diagnoses, I wonder if they could have ASD. Differences in infancy or preschool should alert you to a developmental diagnosis, possibly with secondary mental health diagnoses. A new child will come into your practice with a history of poor social skills and some challenging behaviors or perhaps being bullied. Your patient may have a history of any or many of the commonly co-occurring diagnoses: ADHD, anxiety, ODD, sensory processing disorder, mood disorder, tic disorder, OCD, panic attacks, learning disability, and others. None of them seem to “capture” the child according to parents, but these are the diagnoses they have received over time. The child doesn’t have many friends and is thought of as a “loner.” Stimulants may or may not have helped. The child may be on multiple psychotropic medications. Please go back and get the early developmental history. If it may be ASD, there will be something in that early history described in the Chap. 5, such as history of early letter identification, early reading, trouble with handwriting, and special and intense interests. The child may have a history of being “so smart” that all social and behavioral difficulties have been attributed to high IQ.  The history of difficulty making friends or lack of interest in other children will date back to preschool. ASD is a developmental diagnosis, not a mental health disorder, so the answer will be in this early history. One specific group to consider are females, who are much more likely than males to be diagnosed late [7]. We rely on the old number that males outnumber females by 4–5 to 1. Recent research suggests we are underdiagnosing females [8], and, therefore, if we start doing that, the ratio will be much less unbalanced. In our minds, when we think autism, we think “boys.” We need to expand our mental construct to include girls and women. Please see Chaps. 20, 21, and 22. We all see what we are trained to see. We don’t all share the same mental construct, the same idea, of autism. In fact, it’s been my experience that even “experts” may draw their lines between neurotypical and autistic at different points (Fig. 2.1). You may wonder, so what? Why would a diagnosis of ASD matter, if the child is getting treated for the symptoms? One main reason to diagnose an older child with

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ASD is that the diagnosis takes the blame off the child, the parents, and the teachers. These challenges are not due to the child being stubborn, lazy, or oppositional. These symptoms are present because of ASD. This knowledge helps both parents and child. Seeing a child through the lens of autism changes how we treat them. We can understand that the child would have trouble making friends. We can understand why social or new events cause anxiety. We can understand why the child refuses to eat certain foods. The child also can understand that this is not a character flaw. That they are having trouble for a reason. That others have the same diagnosis. I heard a panel of adolescents with autism, each of whom said that learning about their diagnosis was the single most important thing in helping them cope with life. Although the amount and type of help is different for the older, school-aged child, there is still more help available than if you had any of the other diagnoses. There is (usually) no parent group for ODD. There are social skills groups, helping the school see the child differently, OT and speech therapy if you have ASD. The older child with multiple diagnoses is likely more complex than the 2-year-­ old who isn’t talking. This may be the instance when it is appropriate to refer the child to an autism center. The diagnostic tool, the ADOS, that I mentioned above can be used from toddlers to adults, with five different modules. Specially trained psychologists and developmental pediatricians are able to make as valid a diagnosis as is possible using this tool and diagnostic criteria. It is important at the primary care level to introduce the idea and ask parents if the child has ever been evaluated for ASD or if they have wondered whether their child could have ASD.  That opens the door to further discussion and investigation.

If the Chief Concern Is Behavior Older children may present with primarily behavioral challenges. Behavioral strategies discussed under Chaps. 15 and 16 need to be modified to meet the needs of the particular child, especially as they get into the teen years. What follows is a brief review of that information. (a) A child with multiple diagnoses most likely has a complex presentation, with professionals seeing what they know how to see. Help parents understand that no one (usually) was wrong but that the child is more complex than our diagnostic boxes. Help parents use the diagnoses that will get the most help. (b) Understand the child’s developmental level to prevent setting the child up for failure by asking things they cannot yet do. I have heard more than one parent want their child to “act their age.” In truth, they are acting the age they know how to act. We need to teach the rest. (c) Figure out the triggers for the behavior and what the child may be communicating using behaviors.

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(d) What adults do in response to the behaviors can escalate or calm down a challenging situation. Have clear expectations, Use limited language. Be specific. Respond consistently. (e) Realize that moms who say their 5-year-old is “beating them up,” may have difficulties setting personal boundaries with others, perhaps because of abuse in their own history. They couldn’t protect themselves then and they can’t now. Especially with boys, the moms fear that the child is “violent” just like the abusive dad. I had to ask about this specifically and was surprised at that number of positive responses I got. In summary, consider ASD if an older child enters your practice with multiple mental health diagnoses, social and behavioral issues, and “not living up to his potential.” The bigger box of ASD may clarify challenges for both the parents and the child.

References 1. Bryson SE, Bradley EA, Thompson A, Wainwright A.  Prevalence of autism among adolescents with intellectual disabilities. Can J Psychiatry. 4 ed. Sage Publications: Los Angeles, CA. 2008;53(7):449–59. 2. Frith U, Snowling M. Reading for meaning and reading for sound in autistic and dyslexic children. Br J Dev Psychol. Wiley/Blackwell (10.1111). 2011;1(4):329–42. 3. Shriberg LD, Paul R, Black LM, van Santen JP. The hypothesis of apraxia of speech in children with autism spectrum disorder. J Autism Dev Disord. 2nd ed. Springer US. 2010;41(4):405–26. 4. Luria AR Translated by Solotaroff L.  The man with a shattered world: a history of a brain wound. Cambridge: Harvard University Press; 1987. 5. American Psychiatric Association. Diagnostic and statistical manual of psychiatric disordersDSM-5. Arlington: American Psychiatric Publishers; 2013. 6. Kang-Yi CD, Grinker RR, Mandell DS.  Korean culture and autism spectrum disorders. J Autism Dev Disord. 4 ed. Springer US. 2012;43(3):503–20. 7. Begeer S, Mandell D, Wijnker-Holmes B, Venderbosch S, Rem D, Stekelenburg F, et al. Sex differences in the timing of identification among children and adults with autism spectrum disorders. J Autism Dev Disord. 2013;43(5):1151–6. 8. Halladay AK, Bishop S, Constantino JN, Daniels AM, Koenig K, Palmer K, et  al. Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority. Mol Autism. BioMed Central. 2015;6(1):36.

Chapter 20

Females with ASD

More boys have ASD diagnoses than girls. For years, we have quoted the ratio of boys/girls as 4–5:1. This number is coming under greater scrutiny as researchers hypothesize that girls may have different presentations, that the criteria and gold standard testing was developed mostly on boys, and as a result, we may be missing a large number of females with ASD. The numbers now range from 2:1 to 6:1 boys/girls. The lower ratio of 2:1 has been found in children with both intellectual disability and autism spectrum disorder. The more discrepant ratio of 6:1 has been reported in those with average to above average IQ [1]. The differences may be more apparent than biologic or real. The ratios could change significantly because of the factors discussed next. Some biologic explanations have hypothesized that boys having one X chromosome cannot compensate for X-linked conditions, as girls are able to [2]. The most obvious example is fragile X syndrome, which is identified in twice as many boys as girls, who compensate because the typical X produces some amount of fmr1 gene product. In fragile X, boys are typically more severely affected than girls. The X is inactivated at random in all XX cells at a stage when the fertilized egg has reached an 8-32 cell state. Depending on how many Xs carrying the fragile X mutation get inactivated can affect the severity of the female’s symptoms. Others have thought about prenatal exposure to testosterone [3] as a way to conceptualize a reason for this difference. Baron-Cohen’s theory of the “extreme male brain” use the more systematizing play of boys as being more similar to autistic play than the seemingly more social play of girls [3]. This is not generally agreed upon way of categorizing children’s play. This theory also led to medically questionable ideas such as giving the anti-testosterone medication, Lupron, to autistic boys, trying to (irrationally) compensate for a prenatal exposure, a striking misuse of an interesting idea. Others have thought that females may manifest autistic symptoms differently than males and that perhaps the greater differences between males and females could be due to the fact that diagnostic criteria and gold standard tests could be biased against finding females. A study of females with higher IQs were found less

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likely to meet criteria on the gold standard interview tool, the ADI-R [4]. This could result in significant under-identification of higher-functioning females with ASD. When comparing males and females with ASD, after controlling for IQ, there was no significant difference by sex in the degree of social/communication impairment, but restrictive and repetitive behaviors were more prominent in males [1], which has also been reported by others. These repetitive motor behaviors or stereotypies are the most visible aspects of ASD to both professionals and parents and if they are absent or minimal may lead people away from considering ASD. It has long been thought that when females have autism, they are more severely affected than males, with lower IQs and lower function [5]. This seems to be true in children who are classically defined. For higher-functioning females, there is a concept called “camouflaging,” which entertains the possibility that females are in a better position to mask social differences. It may be that by way of nature and nurture, there is either greater ability to develop social skills or greater training and expectations given to daughters than sons. Girls with ASD are more likely to have some pretend play skills, which still may have an unusual quality to it. Pretend play can be stereotyped and lack flexibility or may not be reciprocal with others. However, if you ask “Does your child play pretend?” many parents of girls with ASD would say “yes,” if the quality of play is not considered. Older and higher-functioning girls may have focused passions that are more acceptable to our society, such as following specific boy bands or being fans of a movie star. Story [I once met a bright young lady with ASD in her later 20s, who was still passionate about a particular boy band, and would travel the country to see this band, and pay for backstage passes. Although independently living and working, she struck strangers as perhaps 14 or 15 because of her delayed social development.]

As you have read, there are two “gold standard” measures of ASD: the ADI-R (Autism Diagnostic Interview-Revised) and the ADOS-2 (Autism Diagnostic Observation Schedule-2), the first an extensive interview with parents and the second an in-clinic, standardized set of activities from which autistic characteristics can be measured, which takes about an hour. These would be done by someone trained to administer these tests. Because of its length, the ADI-R is typically used by researchers and not clinicians. A study of females with higher IQs found they were less likely to meet criteria on the ADI-R [4]. This could result in significant under-identification of higher-functioning females with ASD, excluding them from research studies that rely on those test results. Ratto and colleagues [4] have reported that both the ADI-R and the ADOS were standardized on predominantly male samples, without sex-specific cutoffs or algorithms. She makes the point that if we continue to rely on these two tools to decide

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who gets to enroll in studies (with DSM-V criteria, as is now the case), we will continue to exclude females who “pass” the tests and continue to bias the literature against identifying affected females. In case you wondered, these females not diagnosed with ASD are not doing fine but are instead diagnosed with a variety of other, often mental health, conditions. This is especially true if the females have higher IQs and are therefore not diagnosed with a developmental disability and have never come to the attention of special educators or other disability specialists. They are struggling with social interactions, anxiety and mood disorders, and executive function issues, but their ASD is more likely to be missed than high-functioning males [6]. Just as the number of cases of ASD in a given population grows over time, as we learn more about the best way to identify girls and women, their numbers will also grow. Loomes et al. [7] estimate that the real sex ratio may be more like 3:1. Because of the changing concept of ASD over time, possibly biased, gold standard diagnostic tests, and the camouflaging hypothesis, getting accurate estimates of the sex ratio remains an ongoing process.

References 1. Mandy W, Chilvers R, Chowdhury U, Salter G, Seigal A, Skuse D. Sex differences in autism spectrum disorder: evidence from a large sample of children and adolescents. J Autism Dev Disord. 4 ed. Springer US. 2012;42(7):1304–13. 2. Skuse DH. Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediatr Res. Nature Publishing Group. 2000;47(1):9–9. 3. Baron-Cohen S. The essential difference. New York: Basic Books of Perseus Books Group; 2003. 4. Ratto AB, Kenworthy L, Yerys BE, Bascom J, Wieckowski AT, White SW, et al. What about the girls? Sex-based differences in autistic traits and adaptive skills. J Autism Dev Disord. 4 ed. Springer US. 2017;34(1):413–4. 5. Lord C, Schopler E. Differences in sex ratios in autism as a function of measured intelligence. J Autism Dev Disord. 1985;15(2):185–93. 6. Luciano CC, Keller R, Politi P, et al. Misdiagnosis of high function autism spectrum disorders in adults: an Italian case series. Autism Open Access. 2014;4:2. Researchgatenet. 7. Loomes R, Hull L, Mandy WPL.  What is the male-to-female ratio in autism spectrum disorder? A systematic review and meta-analysis. J Am Acad Child Adolesc Psychiatry. 2017;56(6):466–74.

Chapter 21

Gender Identity in ASD

There is increasing recognition that people with ASD have a higher rate of gender nonconformity than the non-autistic population. Whether you believe that gender is or should be binary, accept the concept of the fluid nature of gender, or reject gender as an oppressive cultural concept, we have a shared knowledge of what most of us mean by gender. And whether you agree that we should call nonconforming gender identity a “dysphoria” or not, we can also understand that this refers to people who feel a “persistent sense of discontentment (between) their self-perceived and assigned gender” [1]. Recent research supports two findings: (1) that there is a rate of gender dysphoria in the ASD population significantly higher than the general population [2] and that (2) symptoms of autism are significantly higher in those identified as having gender dysphoria [3]. Initial case reports of individuals with both ASD and gender dysphoria date back to 1997. Our clinic also felt we were seeing more children with ASD, who identified more strongly with their non-assigned gender, both males who wished to be or thought they were female and vice versa. We wondered whether there was an actual connection, or whether we were simply living in a place and time where this topic could be discussed with clinicians. Strang et al. [4] studied how parents of children answered the question “wishes to be opposite gender” on the Child Behavior Checklist (CBCL). In ASD, 5.4% of parents answered “yes” compared to 4.8% of parents of children with ADHD and 0.7–1.7% of comparison groups. Aron et al. [5] reported that those with ASD were 7.76 times more likely to express gender variance than the general population, with no difference between males and females. The van der Miesen study found that “children and adults with gender dysphoria had, on average, more autistic symptoms compared to typically developing children and adolescents, but less autistic symptoms compared to children and adolescents with ASD.” The van der Miesen study looked at their population of children and adolescents referred to an academic center for concerns about gender identity or gender dysphoria. 9.4% of adolescents referred to this clinic met criteria for ASD.  This is

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compared to the general population of 0.6–1.6%. The authors speculated that the number could be even higher if high-functioning females did not meet the currently set bar for ASD diagnosis. There is a lot of speculation on the relationship between these findings. About a decade ago, autism researcher Simon Baron-Cohen published a fascinating book, The Essential Difference, based on his research that hypothesized that autism was due to what he called the “extreme male brain” [6]. That possibly because of increased exposure to levels of testosterone prenatally, females with autism had more systematizing play (lining, sorting), more like the play traditionally associated with boys, and less social play such as pretend play, traditionally associated with girls. Other authors comment that while excess prenatal testosterone could explain gender variance in females, it is not consistent with prenatal exposure of males, who should (depending on one’s beliefs) tend either to greater or lesser “masculinity,” which is not born out by research. Although not discounted, the extreme male brain theory is likely to be one possible factor in the much more complex interaction of genetic factors, prenatal experience, brain development, and postnatal cultural environments and an individual’s social experiences, interactions, and reactions. The extreme male brain could also be a factor for a subset of autistic females, as nothing like this is probably caused by just one thing. Sexual orientation (to whom one is attracted) is complex, especially when the various gender identities have sexual attraction that ranges from “all of the above” to “none of the above.” It is increasingly clear that gender nonconformity is more common in ASD and sexual orientation more varied in both men and women with ASD, including lack of sexual attraction to either men or women. This variation was more common in women than men with ASD [7]. I wonder whether this is because it is a little safer for females to express these feelings than it is for males. Other possible reasons for the connection between gender and ASD are being explored. Some speculate that the cognitive rigidity of people with ASD may lead some individuals to be more likely to respond to any confusion in this area with a black and white choice between female and male. If one feels like a social outsider, one might attribute this feeling to gender nonconformity instead of autism. Others suggest that gender dysphoria could be an intense, but passing, obsession, similar to any other obsession/focused interest that a person with ASD might have. It is hard to sort out and worthy of more study. Gender is a performance to some degree. Boys and girls have to act a certain way that is boy-like or girl-like or else they will be ostracized by peers. Typically developing children learn those social rules easily; children with autism do not. This may be at the root of these observations that people with autism may be more likely to reject cultural expectations and have more atypical sex and gender identifications. In an interesting essay called “The Ghost of Gender,” Joyce Davidson and Sophie Tamas [8] discuss the challenge of gender for people with ASD. They explain that there is an emotional cost to “doing gender,” that pretending to be a boy or a girl is

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challenging social work for the person with ASD. I think that all social interactions can be emotionally draining for people with ASD, their gender roles just one of many. The better we can convey to the person with ASD that they are loved and supported for whoever they maybe, the less anxious that person can be. Less anxiety anywhere leads to greater function everywhere. Davidson and Tamas also discuss the notion of a “double coming out” if you are a person with an autism spectrum disorder and an LGTBQ identity. Regardless of how male or female people with ASD feel, or to whom they are attracted, it is very important to realize that a lot of adults with ASD are or have been in romantic relationships. In a study of adults with ASD, Dewinter et al. [7] found that “about half the study participants were in a relationship, in most cases, a satisfying one, and most people with ASD who were in a relationship lived with their partners.” We must assume that our patients with ASD may date and may marry and that we must cover the same health questions and advice with this population as we do with all of our adolescent and adult patients. Online surveys have yielded interesting responses including the rejection of gender as being relevant to individuals at all [9]. Cultural norms can feel repressive and some cognitively reject those expectations. Some cannot really figure out how to play the roles expected of society. Some find gender simply irrelevant to their life experiences. Davidson argues that asexuality should be “recognized as a legitimate sexual orientation.” Story [“Marilyn” is a girl with high-functioning autism spectrum disorder. Her history of gender nonconforming dates back to early childhood, when she would line up with the boys. She wanted to play soccer with the boys in kindergarten. She would not wear a dress and insisted on a plain hairdo. In the clinic, she liked playing with the castle, knights, and princess, but unlike the other girls who identified with the princess, Marilyn pretended to be the knight, who rescued the princess. Fortunately, Marilyn’s parents loved her for the person she is, and wanted her to be happy, regardless of what that meant. When parents are supportive, children can develop healthy self-identities, which protects them somewhat from depression, feelings of negative self-­ worth, and bullying.]

Story [“Jun” is an 18-year-old boy with autism and mild intellectual disability. He also has a communication impairment and can say short sentences or strings of words, which mostly gets his message across to others. Since puberty, he has been telling his traditionally Asian parents that he wants to be a girl. They just kept telling him he was a boy, but discussion wasn’t easy on either end.

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He dyed his hair pink and tried to dress in female clothing. He received a lot of negative reactions both at home and at school. This issue peaked in high school, when he started to talk about “cutting off his penis.” We connected him with our specialist in transgender adolescents and psychiatry for his symptoms of depression, but the crisis was either subdued or passed. The last time I saw him, he told me he was a boy. I think he knows that is the “right” answer.]

References 1. American Psychiatric Association. Diagnostic and statistical manual of mental disorders (DSM-5®). Arlington: American Psychiatric Publishing; 2013. 2. George R, Stokes MA.  Gender identity and sexual orientation in autism spectrum disorder. Autism. 8 ed. Sage Publications: London, England. 2017;65(2):1362361317714587. 3. Van der Miesen AIR, de Vries ALC, Steensma TD, Hartman CA.  Autistic symptoms in children and adolescents with gender dysphoria. J Autism Dev Disord. 4 ed. Springer US. 2018;48(5):1537–48. 4. Strang JF, Kenworthy L, Dominska A, Sokoloff J, Kenealy LE, Berl M, et al. Increased gender variance in autism spectrum disorders and attention deficit hyperactivity disorder. Arch Sex Behav. 5 ed. 2014;43(8):1525–33. 5. Aron J, Howard H, Christina D. Gender variance among youth with autism spectrum disorders: a retrospective chart review. Transgender Health. Mary Ann Liebert, Inc. New Rochelle, NY. 2016;1(1):63–8. 6. Baron-Cohen, Simon. The Essential Difference. London; New York: Penguin Books, 2004. 7. Dewinter J, De Graaf H, Begeer S. Sexual orientation, gender identity, and romantic relationships in adolescents and adults with autism spectrum disorder. J Autism Dev Disord. 5 ed. 2017;47(9):2927–34. 8. Davison J, Tamas S. The ghost of gender. Emot Space Soc. 2016;19:59–65. 9. Glidden D, Bouman WP, Jones BA, Arcelus J. Gender dysphoria and autism spectrum disorder: a systematic review of the literature. Sex Med Rev. Elsevier. 2016;4(1):3–14.

Chapter 22

Cultural Perspectives in ASD

There are two aspects of multicultural issues affecting autism that I’d like to address: the gaps that exist in diagnosing and providing services to children, who lack access because of race, language, or resources, and how culture could affect a family’s response to a diagnosis of autism/ASD. Race and multiculturalism can be challenging to discuss and to research. Our concept of race is far more complex today, given our increasing understanding of the variability of each individual’s genetic makeup. Identifying one’s culture(s) can be more challenging when parents have broader autism phenotypes, which could affect their sense of belonging to a larger group. We are more aware today of the biases we all have, and strive to recognize them and how they affect research or diagnosis. I will review what others have learned about these issues and provide some suggestions. Although there is a general belief that autism knows no racial or ethnic boundaries, figuring out if this is true has been harder to accomplish. Surveys can be biased by lack of dominant language proficiency, differences in people’s willingness to participate in research, and trust in the system requesting participation. Nonrespondents might be more likely to have affected children than respondents. Early studies looked at immigrant vs nonimmigrant populations but without further definition. Some studies find autism to be higher among immigrant populations, but others did not. Fombonne and colleagues [1] did not find any differences in autism in ethnic populations. He surveyed the entire UK, but still, nonrespondents made up 20% of the study population, and no one knows the makeup of that population. Unless I have found a recent reference about specific populations, I have chosen to be nonspecific for a part of this section. Older references may generalize or appear to generalize perceptions that may no longer be true in today’s world. I also think that general statements about any culture can be quite inaccurate when applied to any individual.

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Barriers to Diagnosis and Treatment I lament that the average age of diagnosis of children in the USA is still 4 years of age. We need to diagnose children by 18–24  months and get them into services with minimal delay, in order to maximize the effectiveness of intervention. The delay for those without adequate resources—time, money, education, health insurance, and language—has even more barriers to hurdle to get their children the help that they need. African-American children are diagnosed 1.6 years later than Caucasian children [2], 5 times more likely to have received a diagnosis of adjustment disorder, and 2.4 times more likely to receive a conduct disorder misdiagnosis [3]. This may be related to healthcare provider bias, thinking that African-American males are more likely to have behavior disorders first and put developmental issues lower on the list. In special education, African-American males have more frequent placement in classes for children with emotional and behavioral impairments [4]. There is also evidence that African-American parents report lower concerns about autism symptoms and may have primary concerns about disruptive behaviors [5]. This could also lead to early diagnoses of ADHD, adjustment disorder, or conduct concerns rather than developmental disabilities like ASD [3]. There is poorer access to healthcare services in African-American children. African-American children from low-income families were more likely to have delayed diagnoses for ASD. They were less likely to be diagnosed on the milder side of the autism spectrum than Caucasian children. Lack of family-centered care was considered another barrier [6]. Zuckerman et al. [7] interviewed 33 parents of Latino children, who had autism diagnoses, asking them about barriers to getting their diagnosis. One common theme was lack of information about ASD in their community, which combined with a stigma of mental health disorders and disabilities. Parents reported having their concerns dismissed by healthcare providers. Parents from all walks of life and cultures have told me this from time to time. Parents in this study reported that the diagnostic process itself was confusing and distressed their children, contributing to loss of trust in the medical system. ASD in Korean culture was reviewed in a fascinating article by Kang-Yi et al. [8]. Studies on play and socialization of typically developing children showed that Korean children engaged in more parallel play and solitary play than Anglo-­ American children and that they were more cooperative and showed more neutral affect. Reactive attachment disorder is frequently diagnosed when the autism symptoms are not severe and is preferred by Korean mothers because RAD is not genetic and does not implicate the family tree. Although “blaming the mother,” like our early concepts of “refrigerator mothers,” RAD is due to something the mother can change and is therefore not a permanent disability. Many programs in Korea for children with autism focus on maternal-child relationship development.

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Korean schools are described as emphasizing structure and routine, learning by rote, with consistent daily schedules. There is a clear hierarchy of the teacher as the adult in charge. These factors may be a good match for children with higher-­ functioning ASD and may explain why most of these children are in regular education classrooms. Asian Indian families tend to report early concerns about social development rather than language delays. Anglo-American families, by contrast, report language delays first. Social differences are not reported as often, possibly because of the value placed on individuality in the USA [9, 10]. Rural communities in many, possibly all, countries find challenges accessing services for their children with ASD.  Diagnostic centers are usually in urban or university settings. Service providers tend to position themselves in places where they can hire many line therapists, which usually are not in a rural location. There is information on rural culture from the USA, Canada, and India. Families report better community support but a harder time getting help for their children [11]. Telemedicine may become a useful tool to reach underserved populations but should not be relied upon totally, as ASD diagnoses were missed in one study in 20% of the population [12]. In India, there is a program that a nonprofessional can be trained to provide to rural families [13]. These differences are important and interesting. Every article on culture and autism emphasizes the importance of considering culture when evaluating children and talking with parents.

Families’ Response to Diagnosis Families may appraise their children’s diagnoses in positive or negative ways. When a child’s behaviors are more severe and challenging, those are generally perceived in negative terms and addressed earlier in life than a more mildly affected child with fewer behavioral concerns. Negative appraisals can include concepts of imperfection, child as burden, or needing to be fixed. Some cultures see having a child with a disability as a punishment of the parent or maybe the fault of the parent. Some older relatives of children have asked me about evil spirits, and in the literature, relatives have suspected witchcraft. Positive appraisals include the idea that the child is a blessing from God or that God would not have given this child to them if they were not capable or worthy. Some cultures believe that all children are important and that all children have a right to be born. Some cultures are more tolerant of differences or less concerned about language delays. Some cultures describe behaviors, such as “she runs away” or “he gets excited,” but may not have a word for autism in their language [14]. The way in which people view disability, with gratitude or shame, affects how and when they access services.

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You can ask certain questions that help you understand parents’ beliefs about autism [15] such as: • • • • • • • • •

What did you call your child’s problem before it was diagnosed? What do you think caused it? Why do you think it started when it did? What do you think autism does? How long do you think it will last? What are the chief problems your child’s autism caused? What do you fear most about it? What kind of treatment do you think your child should receive? What do you expect from the treatment?

Although this is suggested for families who are from a different culture than yourself, I would also recommend asking these questions when you feel a resistance to the direction your questions or recommendations are going. You can tell when a parent is uncomfortable with or not believing what you are telling them. That is a good time to ask, regardless of the family’s background. Burkett [6] interviewed 24 urban African-American family members from 8 families with a child with ASD.  Certain themes emerged. Parents thought it was important to “push independence” even if the child is disabled because the more the child can do for themselves, the better protected they are. Parents want to prepare the child as best they can for the world. Relatives are “watchful” to provide safety for their child, which helps compensate for prejudice against both disability and race. Urban African-American families want to take action for their child, family, and community. Parents actively seek out information and resources and advocate for their child in the schools. African-American families may be less interested in “another label” for their child, and they are less likely to pursue specialty care. I have experienced lack of trust of the “system,” which led families away from evaluation. Story [I ran an ADHD clinic service for 7 years, and as part of an outreach effort, I attended a clinic for low-income families. The providers there, family medicine physicians, nurses, and the pediatrician, would make referrals to me. I would go out there for a half-day per week, to have a very high “no show” rate. I was told by both providers and some relatives that there was a lack of trust in the ability of white providers to correctly interpret behaviors of their minority children.]

Parents, even within the same culture, may hold different beliefs about why autism happens. Some ethnic minorities (and individuals) may be less likely to think about autism as a health concern and therefore less likely to report concerns to

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health professionals. If a family believes strongly in fate or destiny, they may be less likely to think there is anything to be done. I was once asked by a mother to explain the word “developmental,” because she thought that using the word “mental” meant “crazy.” This could have been how an interpreter selected a word for “developmental.” The idea that this was about brain development was less stigmatizing to her than mental illness. Cultural social communities, such as churches or temples, can provide support both in giving parents a framework for understanding why unexpected things happen to people and in providing loving and accepting support to the whole family. People with autism in Utah experienced better than expected adult outcomes, with half of adults with average or near-average cognition achieving very good or good outcomes, compared to other studies. The authors discuss the possible factor of the support of the LDS (Mormon) communities, which supports full inclusion of people with disabilities and creates supportive communities for children with neighborhood-­based schools [16]. Erik W. Carter’s book on helping faith communities support individuals with disabilities is essential reading for those who want to provide support in this way (Including People with Disabilities in Faith Communities, Erik W. Carter) [17]. Matson et al. [18] reported on a cross-cultural study of autism from Greece, Italy, Japan, Poland, and the USA. Parents of 250 individuals with ASD, who met study criteria, were given the BISCUIT questionnaire, available in all 5 languages. Parents had greater agreement regarding social and communication symptoms, but that the Restricted and Repetitive Behaviors (RRBs) were more open to cultural interpretation. There were variations in response from country to country, about which the authors encouraged further research to figure out the contributions of culture to those variations.

Recommendations Zuckerman et al., who studied the Latino families, list more than two dozen recommendations for healthcare providers, some of which are more attainable (“Providers should respond to any parental expressions of developmental concern.”) than others (“Newly diagnosed or at-risk families should receive enhanced case management.”) [7]. Encouraging fathers to participate should happen, but we need to be sensitive to parents who cannot risk losing work days. In other words, a clinic can ask for both parents to attend but cannot insist on it, even if that would be good for the child. Burkett et al. [6] looked at the influence of culture in African-American families on autism diagnosis and treatment. Knowledge gaps about autism affected this community also. Like the Latino families, lack of acceptance of disability (stigma) and lack of knowledge of ASD combined to contribute to later diagnoses. Families had

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both good and poor interactions with healthcare providers, but all felt that energy put into building the relationship of trust on both sides was important. “Being judged” (by the PCP) obviously led to decreased trust. Use Strength-Based Assessment  Although looking at race, culture, and ASD and the role of diversity in educational environments, Tincani et al. [19] developed a great set of recommendations, which can be applied to healthcare situations. They encourage “strength-based assessment.” Instead of “he can’t talk,” one could think, “he communicates using gestures.” Instead of “he’s hyperactive,” we could think, “he really likes to move.” This would not be easy for educators or healthcare providers, but if we try to look at children from their strengths, at least some of the time, we convey to parents that we value their children and see some of what they are doing in a positive light. As diagnosticians, of course, if we always did this, children would never get diagnosed with anything. However, including positive comments about children and their abilities can go a long way in building a trusting relationship. This strength-based perspective has become increasingly pertinent to the “neurodiversity movement,” supporters of the concept that difference is not disability. While this is a humane and inclusive concept and even a truth about how all individuals have different strengths and weaknesses, it is much less helpful to the young child who is not succeeding socially and their parents, who are struggling to understand and help to the best of their abilities. If ASD is not thought of as a disorder or disability, then assistance through state agencies and health insurers will evaporate. Without funding, intervention programs will become harder and harder to sustain, leading to poorer eventual outcomes as these children grow up. While the concept seems most useful in high-functioning adults with ASD, those with greater impairments need societal, community, and healthcare supports. Consider Parents’ Perception of Disability  Tincani and colleagues [19] encourage educators to ask parents about their own experiences with autism and how parents see that autism affects their child. The advice seems applicable to medical providers as well. Ask parents about their short-term and long-term goals. Find out how the child’s autism affects their family and family routines. Not everyone can stay home for intensive therapy, and finding childcare can be extremely challenging. They also encourage full inclusion of the family in all decision-making processes. Thinking of parents as “part of the team,” whether educational or medical, can alter one’s approach to care. Providing family-centered care is crucial to the medical home concept. Taking the time to learn more about what the family knows, needs, and wants can provide culturally appropriate care. The recommendations that come out of the articles on best practice with culturally diverse populations have always seemed to me to be best practice for everyone. Be willing to learn from our patients, be kind, be respectful, be caring, and think of how your words and behaviors affect others. I can’t think of anyone who would not benefit from this approach.

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References 1. Fombonne É, Simmons H, Ford T, Meltzer H, et al. Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health. J Am Acad Child Adolesc Psychiatry. Elsevier. 2001;40(7):820–7. 2. Mandell DS, Listerud J, Levy SE, Pinto-Martin JA.  Race differences in the age at diagnosis among medicaid-eligible children with autism. J Am Acad Child Adolesc Psychiatry. 2002;41(12):1447–53. 3. Mandell DS, Ittenbach RF, Levy SE, Pinto-Martin JA.  Disparities in diagnoses received prior to a diagnosis of autism spectrum disorder. J Autism Dev Disord. 9 ed. Springer US. 2007;37(9):1795–802. 4. Donovan S, Cross C, editors. Minority students in special and gifted education. Washington, DC: National Academy Press; 2002. 5. Donohue MR, Childs AW, Richards M, Robins DL. Race influences parent report of concerns about symptoms of autism spectrum disorder. Autism. 4 ed. 2017;65(3):136236131772203. 6. Burkett K, Morris E, Manning-Courtney P, Anthony J, Shambley-Ebron D. African American families on autism diagnosis and treatment: the influence of culture. J Autism Dev Disord. 3rd ed. Springer US. 2015;45(10):3244–54. 7. Zuckerman KE, Sinche B, Mejia A, Cobian M, Becker T, Nicolaidis C. Latino parents’ perspectives on barriers to autism diagnosis. Acad Pediatr. Elsevier. 2014;14(3):301–8. 8. Kang-Yi CD, Grinker RR, Mandell DS.  Korean culture and autism spectrum disorders. J Autism Dev Disord. 4 ed. Springer US. 2012;43(3):503–20. 9. Daley TC, Sigman MD. Diagnostic conceptualization of autism among Indian psychiatrists, psychologists, and pediatricians. J Autism Dev Disord. 2002;32(1):13–23. 10. Daley T. From symptom recognition to diagnosis: children with autism in urban India. Soc Sci Med. 2004;58:1323–35. 11. Hoogsteen L, Woodgate RL. Embracing autism in Canadian rural communities. Aust J Rural Health. 2013;21(3):178–82. 12. Juárez AP, Weitlauf AS, Nicholson A, Pasternak A, Broderick N, Hine J, et al. Early identification of ASD through telemedicine: potential value for underserved populations. J Autism Dev Disord. Springer US. 2018;48(8):2601–10. 13. Divan G, Vajaratkar V, Cardozo P, Huzurbazar S, Verma M, Howarth E, et al. The feasibility and effectiveness of PASS plus, a lay health worker delivered comprehensive intervention for autism spectrum disorders: pilot RCT in a rural low and middle income country setting. Autism Res. 2nd ed. 2018;42:447. 14. Dyches TT, Wilder LK, Sudweeks RR, Obiakor FE, Algozzine B.  Multicultural issues in autism. J Autism Dev Disord. 2004;34(2):211–22. 15. Levy SE, Hyman SL. Use of complementary and alternative treatments for children with autistic spectrum disorders is increasing. Pediatr Ann. 2003;32(10):685–91. 16. Farley MA, McMahon WM, et al. Twenty-year outcome for individuals with autism and average or near-average cognitive abilities. Autism Res. 2009;2:109–18. 17. Carter EW. Including people with disabilities in faith communities: a guide for service providers, families, and congregations. Baltimore: Paul H Brookes; 2007. 236 p. 18. Matson JL, Matheis M, Burns CO, Esposito G, Venuti P, Pisula E, et  al. Examining cross-­ cultural differences in autism spectrum disorder: a multinational comparison from Greece, Italy, Japan, Poland, and the United States. Eur Psychiatry. 2017;42:70–6. 19. Tincani M, Travers J, Boutot A. Race, culture, and autism spectrum disorder: understanding the role of diversity in successful educational interventions. Res Pract Pers Severe Disabil. SAGE Publications: Los Angeles. 2009;34(3):81–90.

Chapter 23

Prevention of ASD

We all know that we can dramatically reduce the occurrence of neural tube defects by preconceptual use of folic acid. Folic acid prevents a severe physical disability in children. I have not heard many ethical arguments against this type of prevention. I thought it would be good to look at the literature on the possible ways to prevent autism spectrum disorder. I remember the article on prenatal folic acid having some protective and preventive function for ASD [1]. Although this is not yet for certain, I thought there might be other risk factors parents could modify like that. There isn’t much. There are very few articles with both “autism” and “prevention” in their titles. The ones I found are quite old. I suspect this is because no one wants to be on the side that advocates preventing people with ASD from coming into the world. It has a flavor of eugenics and the ethics of choosing the perfect children we want to have. I understand the objections and also know that these objections often come from people with high-functioning autism. Children with severe autism and developmental disabilities fall into the category of any other disability, where risk modification is generally acceptable. Prospective parents at risk for a child with fragile X syndrome can selectively choose implantation of non-affected zygotes. Parents who are carrying a fetus diagnosed with any number of genetic conditions can, where legal, elect to terminate the pregnancy. There are advocates who oppose any effort to deliberately reduce the number of people with a disability in the world. I have heard that parents of children with Down syndrome want to ban abortions of fetuses with DS. This is a product of affluence. I have worked in a much poorer country, where there were insufficient resources to care for children without any special (or expensive) needs. My personal view is that individual people should be able to choose from a variety of technologies, as long as they are legal. No one should impose their beliefs on other people. I don’t understand opposing prevention if the actions are to get good prenatal care and to do something like taking folic acid before and during pregnancy. I did not find ideas on the prevention of autism that have evidence that should lead to action at this point. The studies that popped up in my search quickly moved

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to articles in Medical Hypotheses, which are often speculative, food for thought, but not for action. There is one article on using the meridian system from Chinese medicine (Lo, informal booklet) and another that postulates inflammation is possibly the main cause of autism and that the triggers include anything potentially harmful to the pregnant mother: pollution, heavy metals, living in an urban environment, high altitude, or locations with more rain [2]. Inflammation prenatally could be a credible mechanism but currently without a recommended action. The thought that autism could be caused by environmental factors during pregnancy modifying the genetic function of the fetus’ genes (epigenetic modification) is certainly possible for some cases. We already know that prenatal exposure to thalidomide and valproic acid is associated with an increased risk of ASD, as are prenatal infections like maternal rubella. Avoiding those factors would be preventative. I think that modifying risk factors is a rational approach to decreasing one’s risk for a child with ASD. Other than access to and use of good prenatal care, which modifies the risk of many unfavorable outcomes, there are no standard recommendations from this literature as yet. Parents have been trying to prevent autism, without success, by withholding immunizations, of course. That is a course of action that causes harm without any credible evidence to support it. Another type of prevention is the prevention of the development of autism in children who are pre-symptomatic. Maybe if we can identify babies or very young children at high risk for ASD, we can modify the developmental course of that child. Maybe signs in infancy, such as poor eye contact or lack of social smiling, would lead to recommendations for intervention. It seems reasonable that access to infant development specialists could modify the course of developmental unfolding, a type of postnatal prevention [3]. This would be yet another reason why we cannot withhold access to developmental therapies until a diagnosis is established. Although self-advocates may still oppose this type of prevention, our job as physicians and healthcare providers is to relieve the suffering of our patients (Leavitt, personal communication). Children with ASD have many hurdles to overcome in life, and if we can smooth out their road even a little, I think we have an obligation to do so. As care providers, we can also work to advocate for greater acceptance of children with developmental differences.

References 1. Surén P, Roth C, Bresnahan M, et al. Association between maternal use of folic acid supplements and risk of autism spectrum disorders in children. JAMA. 2013;309(6):570–7. https:// doi.org/10.1001/jama.2012.155925. 2. Kinney DK, Barch DH, Chayka B, Napoleon S, Munir KM.  Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder? Med Hypotheses. 2010;74(1):102–6. https://doi.org/10.1016/j.mehy.2009.07.052. 3. Dawson G.  Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder. Dev Psychopathol. 2008;20(3):775–803. https://doi.org/10.1017/ S0954579408000370.

Chapter 24

Conclusions

You have learned what I know about autism spectrum disorder: that autism is a description of a developmental unfolding, that there are multiple causes that lead to these behavioral symptoms, and that there is much that can be done to help children with ASD. You have the ability to diagnose classic cases of ASD, and knowledge to care for these children over their lifetime. What I hope most is that you take away a positive attitude toward children with ASD. All children have value; some children need more help to realize their potential. I hope that you think about creating success for children with ASD and that you help steer families away from punitive reactions that create failure and toward positive interactions that foster social learning. I hope that you have thought a bit about what it might feel like to have autism, and can acknowledge the struggle that these children and their families have to face. I hope that you know that hard work over the long haul is what pays off in the end for the parents and the children both. There are no magic cures. I wish for children with ASD that they have primary care providers, who recognize and respect their differences and who can offer positive support to them. Every child deserves the chance to be all that they can be, and our job is to open the doors to information, resources, and support to make that happen. Thank you for your attention, and I hope this has been helpful. Tina Iyama-Kurtycz, MD, FAAP University of Wisconsin-Madison March 2019

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Appendix A: The Autism Spectrum: A Handout for Parents What Is Autism Spectrum Disorder? Autism spectrum disorder, abbreviated “ASD,” is a developmental disability that affects a child’s ability to engage in social relationships, to communicate with others, and to develop a wide range of interests. Signs of autism are typically seen before 3 years of age.

What Is the Autism “Spectrum”? Children who have autistic characteristics have a wide range of abilities and disabilities. Some children seem to be complete in their own little world, not even aware of their parents. They may not speak and may play with one toy over and over again in the same way. They may not turn around when their parent calls their name. Other children may develop words and even sentences just as expected. However, they may not know how to play with other children their age and may have very specific interests, about which they think everyone else will want to know. Some children may be very quiet and calm; others may be very hyperactive and have frequent tantrums. These children are very different from each other, but all have characteristics that fall on the broad spectrum of autistic disorders. The diagnosis should be called “autism spectrum disorder” or ASD, which is a term that replaces all other diagnoses such as autistic disorder, Asperger syndrome, and pervasive developmental disorder. In daily conversation, the term “autism” is often used in place of “ASD” more for convenience of speech.

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How Does One Make a Diagnosis of Autism Spectrum Disorder? Autism (ASD) is diagnosed after careful observation and developmental and medical evaluation. How easily it can be identified depends, in part, on how many characteristics a child shows and how many need to be elicited by the evaluator. If a child is holding a car upside down, spinning the wheels while watching it out of the corner of his eye, and if that child then gets up, flaps his hands, squeals, and ignores requests by his parents, it is not too hard to make this diagnosis in a relatively short period of time. This explains the times when parents say “but the doctor only spent 10 minutes with us and he said that Eric has autism!” This may not be kind, but it may also be correct. On the other hand, if a child seems attached to parents and may even make eye contact with others, it may be hard to see. A careful developmental history from parents and an evaluation that tries to elicit autistic responses from a child may be needed and may take much longer to accomplish. Physicians should use the Diagnostic and Statistical Manual-5 of the American Psychiatric Association to confirm a diagnosis of autism spectrum disorder. These are lists of “diagnostic criteria,” characteristics that for ASD describe a child’s development in social communication, social interaction, and behavioral areas. A certain number of characteristics (criteria) from each section need to be met before the diagnosis can be used. Psychologists also use this system, but educators may have different characteristics to evaluate. Currently, the best autism specific test is the Autism Diagnostic Observation Schedule, or ADOS. This is a standardized test that is designed to elicit autistic characteristics from a child during play. The ADOS was developed by Cathy Lord, PhD, and her colleagues. Special training is needed before one can use this test for individual children.

 hy Would One Want a Diagnosis of Autism or Any Other W Developmental Problem? If we lived in a more perfect world, perhaps we would look at each individual child and say, “This child is beautiful and physically gifted, but she needs some help talking.” Or “This child has trouble making friends but is such a good speller!” We would look at each child’s strengths and weaknesses and simply provide the support he or she needs to blossom to his or her full potential. This is not where we live. In the world we live in, parents notice that their child may be different than other children of the same age. They wonder why and usually begin to ask questions: Why isn’t my child talking? Why doesn’t he look at me? Why is it so hard for her to relate to other children? Parents are seeking to understand their child’s differences. Sometimes a diagnosis can help parents understand their observations. A diagnosis can also help children get access to services that may help them make progress. A child with autism should get speech and language therapy, and

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he or she may qualify for other types of therapies and support of interventions. A diagnosis can also help parents find support through parent groups, lectures, and conferences. If you don’t know you are dealing with an autism spectrum disorder, you might not know which group to seek out for advice or assistance. A diagnosis should help parents understand their child and should give them access to resources and support. Some children and adults still carry diagnoses for DSM-IV, and so those descriptions are included here.

What Is PDD? PDD stands for pervasive developmental disorder, the older term for autism spectrum disorder. PDD, when used alone, refers to the whole umbrella, under which subcategories of autism were included. PDD, as defined in DSM-IV, included autistic disorder (more typical autism), Asperger disorder, PDD-NOS, Rett syndrome, and childhood disintegrative disorder (see below).

What Is PDD-NOS? Pervasive developmental disorder-not otherwise specified is a complicated term that means that a child has characteristics of autism but not enough to appropriately use the term “autism” or “autistic disorder.” Sometimes this term is shortened to “PDD,” which is confusing because PDD also is used interchangeably with the “autism spectrum.” Usually PDD-NOS refers to children who are more mildly affected, but sometimes it is used because children are not old enough or developmentally able enough to have some of the characteristics (like conversation) and may fall short of the diagnosis of autism.

What Is Asperger Syndrome? Asperger syndrome is used to describe children who have autistic characteristics but who have normal cognitive and language development. They may not have normal language skills such as conversation, but they may have normal or above average vocabulary. Some professionals use this term interchangeably with “high-­functioning autism,” while others reserve it for the child with obsessive or passionate interests and difficulty with peer interactions. This has also been referred to in the media as “The Geek Syndrome,” indicating the number of children with this disorder who have excellent abilities with computers and related games.

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What Is High-Functioning Autism? The literature includes a wide variety of children under the category of “high-­ functioning autism.” It is not a real or well-recognized type of autism but rather an impression of good cognitive skills. The literature has reported children to be high functioning with IQ scores “above 70,” or “above 100,” with no professional agreement on the use of this term (100 is the average IQ on standardized tests of intelligence.).

What Is Low-Functioning Autism? No one actually receives this designation, although it exists in contrast to the preferred “high-functioning” term. Children thought of in this way are generally nonverbal and have formerly been diagnosed with intellectual disability (formerly mental retardation), usually of moderate or severe degree. Some families feel that there is inadequate information and support for children who are severely affected. Nonverbal children are at greatest risk of being offered an invalidated form of support called “facilitated communication.” Brought to this country in the early 1990s by an Australian physical therapist, facilitated communication purports to get nonverbal children to type messages far above their general level of function, as long as another person, called a “facilitator,” supports the child’s forearm. Although it initially caused a storm of hope and enthusiasm in the autism community, subsequent well-designed studies have failed to demonstrate that the child is actually communicating. If different questions are fed through earphones to the child and the facilitator, only the questions received by the facilitator are correctly answered. The danger of “FC” is that it can prevent the development of communication systems that are functionally useful for the child.

What Is Rett Syndrome? Rett syndrome is a neurodevelopmental disorder that causes severe disability in young children, mostly girls. After a period of relatively normal development, children with Rett syndrome lose skills such as language, play, and hand use. The hallmark of the disorder is the development of midline hand wringing or patting movements that may be constant while the child is awake. Head growth, which is related to brain growth, slows down in the 1nd and 2nd years of life. Rett syndrome is caused by a mutation (mistake) in a gene called MECP2 that is on the X chromosome. The mutation itself causes Rett syndrome and other developmental disorders. The diagnosis of Rett syndrome still rests on clinical characteristics. Many girls with Rett’s receive a diagnosis of autism when they lose language skills. Rett

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syndrome was used to be classified as one of the “pervasive developmental disorders” in the DSM-IV. It is no longer a diagnosis in DSM-5, but it remains a known cause of intellectual disabilities.

What Is Childhood Disintegrative Disorder? CDD is a term that is rarely used clinically as there is an overlap with children who have autism associated with developmental regression. It is generally reserved for children with profound loss of skills following relatively normal development for 2–10 years of life, who also show very little in the way of recovery of skills. This term probably covers many disorders that we cannot diagnose by current methods. A diagnosis of CDD can prevent a child from accessing autism services. Aren’t IQ Tests Bad for Children with Autism?  No. IQ tests were first developed to find children who would benefit from extra help in school. They do a good job at predicting academic success. IQ tests measure how well children do on tests of problem-solving compared to other children their age in the same situation. No doubt that children with autism do not perform their best on these tests, but it does give information about how well that child will do in comparison to other children, a situation they will face in regular education settings. The scores should not be used to predict how well a 4-year-old will do in 5th grade. IQ scores in general do not tell us how well a child will do in the future or how happy he will be. Taken in the context of other information, IQ scores and other standardized measures can be very helpful in looking at learning strengths and weaknesses. Standardized testing helps us set appropriate goals for children. If we overshoot a child’s learning ability consistently, we create repeated failures, which can lead to challenging behaviors. Knowing where a child is functioning can help create repeated success, which leads to better engagement with learning.

 ow Common Are Intellectual Disabilities (Formerly Called H Mental Retardation) in Children with Autism? Intellectual disabilities refer to significant delays in cognitive or thinking skills. The educational term for intellectual disabilities is “cognitive disability.” Children with mild intellectual disabilities can be quite capable but are delayed compared to other children their age. Children with autism who were diagnosed 15–20 years ago were more “classical” in their autism, and 75% of this group had some degree of what was called “mental retardation.” Now that we have included more children who are mildly affected by their autism, that number is likely to be much smaller. Recent estimates

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report that 30% of children with autism may have some degree of cognitive impairment. In addition to broadening the autism spectrum, we have also developed a greater sophistication and understanding of cognitive strengths and weaknesses. We used to dismiss the ability to recognize letters and numbers as “rote” or “splinter” sills. We now recognize them as positive indicators of a better outcome, even though not all of the children with these skills go on to use them as well as anticipated. We also know that many children with autism have much better visual perceptual skills than linguistic ones. If we can teach things visually in addition to verbally, children with autism can learn more effectively.

Is There an Epidemic of Autism? We do not have any good information that tells us there is an “epidemic” of autism. We know that autism is more common than previously thought, but we have also radically changed the definition of autism. In the past, we had a more limited idea of who had autism. This child fit the classic image of who had autism, the child rocking who spins toys, who has very limited social interactions. The spectrum has now been expanded to include both children whom we thought were too cognitively delayed to have autism and children who are very verbal, very bright, and attached to their parents. The spectrum now covers a wide range of abilities and disabilities. Once the definition changes that much and there is no single test that can be done to decide if a child has autism or not, then we have no idea what our current numbers mean. Is there really an increase (“epidemic”) or did we just change the meaning to include many more children? That question cannot be answered given the lack of a single test that everyone can use. In any event, the word “epidemic” is a term that invokes fear and anxiety. It implies that autism might be catching, like the flu, or that something in our everyday lives (baby shots? dental fillings? diets?) could be acting to hurt us.

Is Autism Neurological? This question is often asked by parents and even by physicians who are having difficulty deciding whether further neurologic testing would be helpful. All developmental disorders (e.g., autism, intellectual disabilities, cerebral palsy) are related to abnormalities of brain function. Neurology deals with disorders of the central nervous system (brain and spinal cord) and the peripheral nervous system (nerves). Technically, therefore, all developmental disorders are neurologic. In practice, however, neurologists (like all people) vary in their interest and expertise in developmental disorders and tend to see children who have neurologic symptoms they can treat (like seizures) or who may have a progressive neurologic

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problem (one that gets progressively worse over time, unlike children with autism). Neurologists can be very helpful in looking for specific causes of developmental disorders and are often involved in the initial work-up of the child with autism and developmental delays.

What Causes Autism? Autism is not caused by one malfunctioning gene or event. There are specific biologic causes of autism, such as the genetic disorder called tuberous sclerosis (epilepsy, autism, intellectual disabilities, white birthmarks). Fragile X syndrome (prominent ears, low muscle tone, intellectual disabilities, large head size) may account for 2–3 percent of all cases of autism. There is very strong evidence that autism is caused by other genetic factors (identical twins usually both have autism while most fraternal twins do not), probably involving multiple genes. There are some environmental causes of autism. Mothers who were not immunized to rubella (German measles), or who have not had the disease, are at risk of getting the disease during pregnancy and passing the infection on to the unborn child. This congenital rubella is associated with disabilities ranging from deafness to autism to severe multiple physical and mental disabilities. Ten percent of babies exposed to thalidomide (the medication taken by pregnant mothers that caused missing limbs in babies) also carried diagnoses of autism. Encephalitis (infection of the brain) can cause autism. There is a very little believable evidence linking autism to immunizations, diet, or dental fillings. The vast majority of children with autism are born with this potential. Our current understanding suggests that there may be an interaction between susceptible genes with events or exposures in prenatal life. Environmental factors, anything outside of the baby’s genes, can modify gene function of those genes. The field studying these interactions is called “epigenetics.” In short, autism is caused by many different factors that lead towards a behavioral syndrome that we call autism. Autism is a description of a particular collection of behaviors and developmental unfolding. Many, many factors can be associated with autistic development, which has led some to refer to this as the “autisms.”

Should My Child Have an MRI Scan? Most children with autism do not have an abnormality of the brain that will show up on an MRI scan of the brain. MRI scans that we can use in children today only tell us how the brain looks, not how it is functioning. It will tell us if all of the structures expected in the brain are present and whether they are normally formed. You may have read about abnormalities of the cerebellum in children with autism. Smaller than normal structures in the middle of the cerebellum (an area of the brain towards

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the back of the head) have been described, but whether they are seen in your child or not does not help make a diagnosis of autism, does not tell us how well your child will do over time, and does not tell us which therapies will help. A few children who have abnormalities on their neurologic exam or very large or very small heads may have MRI scans recommended. MRI scans should be done for the child with epilepsy (two or more seizures without fever) and for the child who appears to be losing developmental skills. Children with autism who also have white birthmarks that suggest tuberous sclerosis should also have an MRI scan. Safe sedation should be used in the young child with autism who needs a scan.

Should My Child Have an EEG? An EEG is an “electroencephalogram,” a test that records electrical activity of the brain through wires attached to the scalp. Seizures are caused by abnormal electrical activity that can often be identified by the EEG. Different patterns mean different things and are best interpreted by neurologists. Seizures do not indicate any one specific neurologic disorder; they are seen in many children with developmental delays, in children with no learning delays, and in children with autism. About 30% of children with autism also develop seizures during their lifetimes. Two or more seizures that are not typical “febrile seizures” or “fever seizures” mean that your child has epilepsy. This may also be referred to as a “seizure disorder.” All children with nonfebrile seizures or complicated febrile seizures should see a neurologist and have an EEG done. You may have read about the “Landau-Kleffner syndrome” and a variant that was written about in association with autism. The original Landau-Kleffner syndrome referred to school-aged children who lost language skills and developed seizures but who did not have any autistic characteristics. Several authors wondered if this process happened in young children and whether autistic development would result. This was then written about in conjunction with “electrical status epilepticus of sleep” and led to the recommendations for 24-hour video EEGs. This did not turn out to be useful for the vast majority of children who had it done. If abnormalities of sleep were identified, treatment did not alter the course of their emerging autism. Treatment with anticonvulsants would be expected to treat identified seizures and not the core symptoms of autism.

What Lab Tests Should My Child Have? Every child with developmental, language, or social delays should have audiometric testing done, even if they passed their newborn hearing screen. The one exception might be the child with autism who clearly and consistently demonstrates echolalia. If the child can repeat speech, a hearing loss is not the cause or even a factor in

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delays. However, if there are any problems with how clearly the child speaks (articulation or intelligibility), then hearing assessment should be completed. Current medical literature recommends that children with autism should have blood drawn for a detailed look at the chromosomes and “molecular fragile X testing” autism. There are significant recurrence risks for families with this diagnosis. Children with autism who put objects into their mouths (long after infancy) should have their blood checked for lead. An elevated lead level can be seen in children who mouth objects and would be seen as a complication of autism, not as a cause of it. A lead level should be repeated annually if this behavior continues. Children who are poor or restless sleepers should have a blood test called “ferritin” which is a measure of the body’s iron stores. Picky eaters who do not have enough iron in their diets are at risk for restless sleep. Other lab tests depend on the individual child. There is no “panel of tests” that should be done in every child who has autism. Tests, just like therapies and school programs, should be individualized to a child’s history, physical exam, and symptoms. A developmental pediatrician or medical geneticist can help in selecting more specific tests to run.

What Is Hypotonia? Muscle tone refers to the amount of tension that is normally present in all of our muscles. While awake, most people have a normal amount of resistance to having their joints moved. It is neither too easy nor too hard to move a normal arm or leg. Hypotonia refers to “decreased muscle tone,” a looseness or floppiness either of the limbs or the body. Hypotonia can be caused by disorders of the brain, nerves, or muscles. If a child has normal knee-jerk reflexes and has good strength in the muscles themselves, then the hypotonia is caused by differences in brain function. The brain does not send the correct balance of messages to the tendons and muscles, leading to this feeling of looseness. This looseness can affect the quality of a child’s movements. Many, but not all, children with autism have some degree of low tone. They may be late in sitting up or late in walking. They may be clumsier in their movements than other children. They may have difficulty holding a pencil. Some metabolic disorders are associated with hypotonia, and so if your child is hypotonic, then certain lab tests might be recommended. One confusing thing often happens regarding tone. Your child’s therapist says your child is hypotonic, but the neurologist or other physician says his tone is normal. Is one right and the other wrong? No—they are looking at two different aspects of tone. The therapist notes a mild amount of low tone that can nevertheless affect a child’s movement. The neurologist is looking for the amount of low tone that indicates a neurologic disease. Generally, the neurologist will look for a greater degree of low tone before describing it as “hypotonia.” They are both correct but looking for different things.

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Is This Hereditary? If we look at 100 parents who have 1 child with autism, we know that about 20–22 of them will have a second child with autism. The “recurrence risk” is 20–22%. This means that most people who have one child with autism will not have a second child with autism. However, if a specific cause of the autism can be identified, then this number will be different. If your child has Rett syndrome, there is less than a 1% chance that it will happen again. If your child has Fragile X syndrome, then the risk of 50% for each male pregnancy and 50% for each female pregnancy will be carriers. This does not mean that half of all the boys from this family will have fragile X but that the risk is 50–50 for each boy conceived. There may also be an increased risk of having a child with speech and language delays, not necessarily autism. This may be in the order of 10–15% of children if one child has autism. Whether these children may be “on the spectrum” depends on the clinician making the diagnosis and how broad the spectrum is at that time. Once a family has had two children with autism, there is the possibility that the risk for each successive pregnancy is very high, possibly up to 50%. Risks for your particular family should be discussed with a medical geneticist and genetic counselor.

What’s the Difference Between Hereditary and Genetic? “Hereditary” means that a disorder is passed on from one generation to another. “Genetic” means that a disorder is due to an abnormality of the genes, the molecules that carry information about how our cells should run. Genes are carried on structures called chromosomes. We get half of our genes from our mother (from the egg) and half from our father (in the sperm). If one of our parents has a disorder that they pass in their genes to us, then this is hereditary. If a mutation (genetic error) occurs in the genes of the egg or sperm, this is still genetic, but it is not necessarily inherited. Fragile X syndrome is both hereditary and genetic. Tuberous sclerosis may be inherited or the mistake can arise for the first time in a child. Once a mutation (genetic error) happens, then it can be passed on to the next generation by that individual.

Should I Change My Child’s Diet? How parents feed their children is a very important and very personal decision. Some parents will raise their children as vegetarians, some according to religious laws. Sometimes children are allergic to foods (commonly nuts and eggs), and they may have life-threatening allergic reactions called anaphylaxis. Some children have metabolic diseases and cannot process certain foods, usually specific proteins, carbohydrates, or fats. They will need to alter their diets in order to stay as healthy as possible.

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Some children (and adults) are intolerant to foods such as cow’s milk that has lactose, as they do not have enough of the enzyme lactase to prevent them from having diarrhea when they take in lactose containing foods. Some children have reflux and need treatment for that. These are problems that cut across the whole population and should be considered in any child with vomiting, diarrhea, or allergic symptoms. They are not, however, more common in children who have autism than in other children. The vast majority of children with autism do not have problems metabolizing (breaking down) foods. Despite widespread discussion on the Internet, there is no credible evidence that tells us that children with autism should avoid any kinds of foods. Putting children with autism on restricted diets puts them at greater vulnerability in social situations. A child who finally gets invited to a birthday party and then is not allowed to eat the cake or ice cream is being singled out as different yet again.

Should I Withhold Immunizations? No. There is NO good data to support the notion that MMR shots or any immunizations cause autism. In fact, it is more likely that a child could get autism from not being immunized (or his mother not being immunized) than from getting the shot itself. There are many cases of congenital rubella in Great Britain attributed to the falling immunization rate there. Congenital rubella is long-recognized to be one of the causes of autism (along with intellectual disabilities, seizures, deafness, blindness and severe disability). Because of the success of public health, we have forgotten how devastating these diseases can be. Just because symptoms of autism are often recognized around the time of one of the immunizations does not mean that one thing caused the other. Twenty years ago, the DPT shot was thought to cause autism and brain damage also because it was given around that same time. Autism is primarily a disorder of language and social skills, and until more language and social skills are expected, we may not notice the developmental differences. Children can have severe developmental regression that is due to an identified genetic mutation. Girls with Rett syndrome may not show symptoms until 18 months but then have a dramatic loss of skills. Rett syndrome is caused by a known genetic mutation, and girls with Rett’s are born with the pathway of regression already waiting to emerge. Adults with Huntington’s disease, a severe and fatal neurologic disorder, inherit the gene at birth, but may not show signs of it until late in adult life.

 hat Are Sensory Integration Deficits and How Do They Relate W to Autism? Children with autism seem to use their senses differently than typically developing children. They may perceive the world somewhat differently, and their use of their senses may be clues as to the way they process these experiences. Children may be

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over- or under-reactive to a sensation. Usually, children with autism have a high pain threshold but are overly sensitive to sounds. A vacuum cleaner can be frightening and painful. Children may look at objects out of the corners of their eyes or have strong preferences for certain textures. They may seek out small, tight spaces or wrap themselves tightly in blankets. This difference in processing may be related to brain abnormalities, possibly to the abnormalities in the cerebellum, a part of the brain that takes in and processes some of these sensory signals. A part of a child’s reaction to sensations, however, may be tied into the generally high level of anxiety that is often present. Anxious children may be frightened by unexpected sounds or touch, and control over these sensations may reduce anxiety. We have no idea which comes first, the anxiety or the processing problem, both, or something else altogether. It is clear that these differences are common in children with autism. They are symptoms of autism and not a separate diagnosis. What is not clear is how effectively they can be treated. Occupational therapists are the main professionals to address sensory symptoms. They offer many functionally useful strategies to families, and every child with ASD should have an OT as part of their treatment team.

What Is Hyperlexia and How Does It Relate to Autism? Hyperlexia refers to the ability to read words far above one’s ability to comprehend. The ability to read depends on several skills. One must be able to recognize letters and patterns of letters that form words. One must also be able to comprehend the meaning of those words. Children with hyperlexia can read words but struggle with comprehension. For reasons that we do not understand, many children with autism spectrum disorders are very, very good at learning the names of letters and numbers and then at reading words and spelling them. This process of “decoding” is an important beginning in learning to read. Children as young as 18 months of age may start identifying letters and numbers. Some children may be reading and spelling words by 2 or 3 years of age. Parents are appropriately delighted. It is only called hyperlexia if the child does not understand the meaning of the word they can read. For example, if a child could spell “xylophone” but not be able to identify a picture of one, this is hyperlexic. Primary grade children may understand labels or concrete stories but struggle as the material gets more abstract. Children with autism who are hyperlexic generally have better outcomes than children with autism who cannot decode in this way. The struggle for parents and teachers is to work to attach meaning to the words the child can read.

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What Is the Most Effective Way to Treat My Child? Children with autism benefit from early identification, early intervention, and intensive intervention. The first part is getting a diagnosis. Psychiatrists, psychologists, neurologists, developmental pediatricians, pediatricians, educators, and speech and language pathologists can all recognize the clinical picture of autism. Whether or not a particular specialist can or will make this clinical diagnosis is up to each individual. The ability to make a diagnosis of autism is not required of any particular specialty. The better informed the medical community is about autism and how to make this diagnosis, the more professionals we will have willing and able to do this. With current prevalence data, all physicians and primary care providers who see children should be aware of the characteristics of autism. Early intervention is the hallmark of good treatment of all developmental conditions, including autism. Most 0–3 programs excel at play-based interventions, an area where young children with autism need help. Whether families pursue more than a preschool program such as Early Childhood and traditional interventions such as speech and language therapy and occupational therapy is often a decision made by individual circumstances. Whether families feel compelled to pursue every alternative therapy discussed on the Internet, or just selected ones, depends on each family’s function, support, and income. Each family has a limited pot of resources (time, energy, money) on which to draw. Each family has to decide how best to spend these resources. How much each family needs to do or can do in order to feel like they have helped their child as much as possible is unique to individual circumstances.

Will My Child Become Aggressive? Children who cannot communicate effectively often develop what are called challenging behaviors. This may involve banging one’s head onto hard surfaces, hitting, biting, or pinching. When children hurt themselves, it is called self-injurious behavior or SIB. It is sometimes difficult to tell what happens just before a SIB, but often, if we look carefully, there is something happening that acts as a trigger for that behavior. For example, a child who does not understand that their video has ended and needs to be reset may get suddenly upset for no apparent reason. It is up to us as the adults in a child’s life to try to figure out what these behaviors mean and what the child intends to tell us. Sometimes even children who have language do not have the language to tell us what is so distressing. We have to understand what is wrong, and the children learn to express themselves in another way.

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Sometimes challenging behaviors are the result of an underlying irritability. Perhaps there are sensory issues. Sometimes the developing brain just cannot handle the stress of daily living. If these behaviors happen in multiple circumstances and regardless of everyone’s best efforts, it is possible that medications may be needed (see below). The most important thing to remember is that autism makes typical behavior much harder for a child to achieve. Autism helps us understand why the child behaves in a particular way. It is not an excuse for lowering behavioral expectations. We still need to let the child know that he or she may not hit, bite, or hurt themselves or others and that we will set appropriate behavioral limits. We may need to break things down for children, tell them what is going to happen ahead of time (foreshadowing), and offer them choices, but the goals are still the same. Provide behavior support.

Does My Child Need Medications? There is no medication that treats the essential features of autism, the social and language disabilities. Medications are sometimes needed to help with the following problems: hyperactivity or inattention, aggressiveness, anxiety, or sleep. All medications have unwanted side effects in some children, and we cannot tell which child will have a particular side effect ahead of time. Changing the environment to help the child cope, foreshadowing events, offering rewards for good behaviors, and all of the other good, basic parenting techniques should be tried before medications are considered. Many children with autism do not get enough sleep and have daytime irritability from chronic lack of sleep. Increasing physical activity during the daytime should be tried to get the child physically tired so he or she can have a better night’s sleep. Child psychiatrists are generally the most knowledgeable about medications used for behavioral problems (psychotropic medications), but often your child’s pediatrician can be helpful.

Does “Recover” Mean Cure? Some programs will talk about helping the child with autism “recover” from his or her autism. This sounds like someone recovering from a cold or other illness. This is not what happens in autism. Programs may use the term “recover” to mean that if one looks at a group of children in a classroom, an observer would not be able to identify which child has autism and which child does not. This is sometimes referred to as being “indistinguishable from peers.” This does not mean that the child does not still have vulnerable areas. It does mean that the child is functioning at grade level in academic areas and is not presenting a major behavioral challenge at school. Sometimes, parents provide incredible support to children and don’t realize how much that child needs that support in order to function at this best level. For example, parents of children with autism may carry a bag of favorite things, like favorite snacks, new books, or a new game, for the child to do when they take a trip to an

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unfamiliar place. Typically developing children do not usually need this in order to enjoy an outing with their family. Even when they succeed academically, children who have autism usually continue to struggle with understanding complex social relationships and may have difficulty with intimate relationships as adults. Some have difficulty using their knowledge in everyday life, which are called “adaptive skills.” Adaptive skills can be lower than intellectual ability in autism. Think of the notion of recovery as “improvement into the average range for most skills, with some supports.” We do not know how to “cure” autism, and there are those individuals who have high-functioning autism who do not want to be cured of an integral part of them. They would prefer to be accepted for who they are and respected as the unique individuals they are.

What Does the Future Hold? Most children with autism develop the ability to use some speech to communicate. Some communicate quite well verbally but have difficulty with conversational skills. Some seem just fine in most circumstances but may remain vulnerable in certain situations. Some children can develop their special interests into a career. One boy who loved the Chicago Transit Authority and memorized all the routes, times, and details about the system grew up to work for the CTA and help commuters find their way through Chicago. Some tech companies like SAP or Google are hiring people with ASD for their unique ways of problem-solving. Some children can grow up to be professors like Temple Grandin, a famous adult with autism. Other children have severe disabilities and need support throughout their lives. We cannot confidently say how many children who are diagnosed with autism today will be completely independent as adults. Our support for children with autism has changed so much; the children who are adults now did not have these services and this kind of help when they were little. We expect the future for children born today will be much better than it was 20 years ago. One of the things we are learning is that adaptive skills may be a better predictor of outcomes than IQ scores alone. We need both basic science research to better understand the aspects of brain development that go into autism and to be better able to identify which children have autism, and we need more educational and therapeutic research to find the most effective ways to help children maximize their potential. We need to let go of ineffective therapies and old theories. We need to use the information we have to help our children today and to plan for the children of tomorrow. With thanks to Betty Ulanski, MSSW, for assistance with editing (Iyama, 2003, v2) Revised, 2013 (Iyama, 20003, v.2) Revised, 2015 Revised, 2018

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 ppendix B: Ross Greene’s Bill of Rights for Behaviorally A Challenged Kids “If we don’t start doing right by kids with social, emotional, and behavioral challenges, we’re going to keep losing them at an astounding rate. Doing the right thing isn’t an option…it’s an imperative. There are lives in the balance, and we all need to do everything we can to make sure those lives aren’t lost.” Behaviorally challenging kids have the right: 1. To have their behavioral challenges understood as a form of developmental delay in the domains of flexibility/adaptability, frustration tolerance, and problem-solving. 2. To have people—parents, teachers, mental health clinicians, doctors, coaches, and everyone—understand that challenging behavior is no less a form of developmental delay than delays in reading, writing, and arithmetic and is deserving of the same compassion and approach as are applied to these other cognitive delays. 3. Not to be misunderstood as bratty, spoiled, manipulative, attention-seeking, coercive, limit-testing, controlling, or unmotivated. 4. To have adults understand that challenging behavior occurs in response to specific unsolved problems and that these unsolved problems are usually highly predictable and can therefore be solved proactively. 5. To have adults understand that the primary goal of an intervention is to collaboratively solve these problems in a way that is realistic and mutually satisfactory so that they don’t precipitate challenging behavior any more. 6. To have adults (and peers) understand that time-outs, detentions, suspensions, expulsion, and isolation do not solve problems or “build character” but rather often make things worse. 7. To have adults take a genuine interest in their concerns or perspectives and to have those concerns and perspectives viewed as legitimate, important, and worth listening to and clarifying. 8. To have adults in their lives who do not resort to physical intervention and are knowledgeable about and proficient in other means of solving problems. 9. To have adults who understand that solving problems collaboratively—rather than insisting on blind adherence to authority—is what prepares kids for the demands they will face in the real world. 10. To have adults understand that blind obedience to authority is dangerous and that life in the real world requires expressing one’s concerns, listening to the concerns of others, and working towards mutually satisfactory solutions. Permission to reprint by Dr. Ross Greene

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Appendix C: Behavioral Handout for Parents Guidelines for Raising a Child on the Autism Spectrum Realize 1. When your child is anxious, their functional level declines. Just because a child CAN do something does not mean they will when stressed. 2. Your child lives in the present moment. What you do NOW is important. (Threats or promises about the future may have no meaning.) 3. Even though you understand why your child is behaving a certain way (sensory issues, difficulty with transitions, language challenges), it will still be unacceptable for the child to hit, spit, bite, or otherwise cause harm. It’s just HARDER for your child to behave the way you want. 4. The caring adults in your child’s life must be the guides and the models to help them achieve self-control. If we do not model self-control, we cannot expect it. 5. Children with autism/ASD are very literal. The child may misinterpret teasing words. 6. Remember that most children with autism are visual learners. Use gestures, pictures, or photos to help with understanding. These visual strategies can be extremely helpful. Try these suggestions 1 . Don’t say too much and don’t repeat a request over and over. 2. Be specific. “Be nice” is vague. “Don’t spit” is specific. 3. Keep it simple. 4. Use visuals. 5. Reward often. 6. Be consistent. 7. Keep doing it. Remember Your goals for your child with autism are the same for your child without autism. You want a pleasant, cooperative, polite child. You want your child to be a happy, successful, and well-liked adult. It is far harder for the child with autism to reach these goals. It is far harder to parent a child with autism towards these goals. Most likely, it will take far longer than you want, but with effort, time, patience, and love, you can come very close to achieving these goals. Never give up. Tina Iyama-Kurtycz, MD, FAAP Developmental Pediatrician

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 ppendix D: Personal Accounts of Autism: An Annotated A Bibliography This list represents books I have read or collected over the years and is not meant to be an exhaustive listing of all personal stories. Some of these books may no longer in the public eye and might be worth another look. Barron, Judy and Sean. There’s a Boy in Here. Simon and Schuster, 1992. This unique account tells the parallel stories of the mother (Judy) and the son (Sean). The most powerful story belongs to Sean, who recalls his repetitive behavior and remembers not hearing his mother until she was screaming at him. He also describes his decision not to look at certain people who were on his “list.” He is a bright student, who is socially imperceptive, and uses his intelligence to begin a successful life in an adult world. His story is strengthened by its placement within the context of his mother’s struggles to come to terms with Sean and his autism. Callahan, Mary, Fighting for Tony. Simon and Schuster, 1987. This book has some remarkable insights about the destructive force a child with a disability can have on a marriage and the potential for a family’s healing. Any parents having relationship difficulties regarding their child should take heart from this family’s journey. The book suffers from a time distortion, however. The cover dramatically states, “At two, he was misdiagnosed as autistic. Three years later, his mother brought him back. This is their miraculous story.” In 1987, the concept of autism was more limited. Parents reading this today are operating with a different definition, one that clearly fits the developmental profile of this child. Tony is doing well by the end of this story. His sister deserves much credit for being his play therapist, enticing Tony into circles of communication through play. Although his symptoms are attributed to milk, he continued to eat macaroni and cheese during his recovery. Catalano, Robert (Editor). When Autism Strikes. Plenum, 1998. The subtitle of this book, “Families Cope with Childhood Disintegrative Disorder,” might help parents who either received this diagnosis in the past or for whom developmental regression is a significant part of their child’s story. Childhood disintegrative disorder (CDD) is no longer considered a separate diagnosis but referred to children who experienced more regression and had an overall poorer outcome. The stories of eight families are presented, including one by Craig Schulze, the author of his own book, When Snow Turns to Rain (see below). The introduction by Fred Volkmar states that the cause of regression is not usually found. I think CDD could easily be the product of a variety of conditions whose causes cannot yet be found or it could share more in common with milder and earlier causes of autistic regression. Grandin, Temple. Emergence: Labeled Autistic. This is the landmark book from one of the most famous personalities in the world of autism. I think this book and her willingness to share the story of her life with others has given hope to every family wondering about their child’s future. She is a rare and unique person, and most people, with or without autism, are unlikely to

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achieve what she has done. However, her existence allows parents to know that more is possible. She also made acceptable to the professional world the notion that the sensory experiences can have significant effects on the individual with ASD. Grandin, Temple. Thinking in Pictures. Doubleday, 1995. The remarkable Dr. Grandin’s second book is a mixture of memoir, overview, and advice. She covers some of the same territory from Emergence such as her creation of cattle chutes and her sensory needs and also provides an insightful overview of first-hand accounts of autism in the first half of this volume. This helps parents understand what their own children may be experiencing and why they may act in unpredictable ways. We also learn about her favorite topic of animals and their emotions. Her following books continue to explore autism and animal behavior and how they are connected. Greenfield, Josh. A Child Called Noah. Harcourt Brace Jovanovich, 1970. Memoirs that take the form of journal entries frustrate the reader expecting the normal flow of “story” but also give the reader a closeness to the actual thoughts of the writer as he experienced them. This is the benefit of Josh Greenfield’s diary of the first 5 years of his son’s life. He writes about his feelings towards Noah with unflinching honesty—both the overwhelming love and intermittent rejection of this child who threatens to wear his family apart. This account also includes an excellent portrait of Ivar Lovaas from the parent of a child who was not one of the success stories of intensive intervention. Greenfield, Josh. A Place for Noah. Harcourt Brace-Jovanovich, 1978. This continues Noah’s story between ages 5 and 11 and recounts, again in journal form, the family’s quest to find a place for Noah to live. Their search leads the family to help start a daycare that gives them some respite. One of the most astute observations is now considered more mainstream that each child with autism is an individual, “just as all normal children are not the same—and should not be case into stereotypes.” The most powerful moments are the scary ones, when Greenfield fantasizes about killing Noah because he cannot love this child enough. He is able to move on to find that he “cannot kill the dream that is my son.” It might help some to know that others have had these thoughts and survived. Hart, Charles. Without Reason: A Family Copes with Two Generations of Autism. Harper and Row, 1989. There are two stories in Charles Hart’s effective memoir. The first concerns the life of his family that was both shattered and shaped by his older brother, who was diagnosed with autism as an adult. Hart’s sibling experience is then followed by the birth of his son, whose development emerges in patterns that both delight and frighten his parents. The second story chronicles the life of this child, who also has autism. The timescape of this personal account transcends all the others. We are given the opportunity to follow the brother into his late 60s and the son into his late teens. We see how ignorance and shame limited the brother’s potential; we see how education and understanding allowed the son to blossom. Hart’s explanations of challenging behaviors are particularly well-illustrated and should help parents of teen understand that their children “want the same sense of freedom, choice, and self-control (in their lives) that others seek.”

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Kaufman, Barry Neil. Son-Rise: The Miracle Continues. HJ Kramer, 1994. I saw the movie of this story on TV and did not give much thought to these parents, who sat with their son for hours, rocking with him. But reading their story, I was impressed by a philosophy that I would like to see embraced by others. Driven by the notion that happiness is a choice, the Kaufman’s find that happiness within the context of disability and illness. They decide to accept the child they were given, to respect who he is as a person, and to try as best as they can to gently and humanely move with their son and into his world. Once he accepts their presence, they are able to lure him into this world. Putting current intervention programs in perspective, they work 75–80 hours per week with their son, who is as closely observed as one can imagine. They did rock with him and spin with him, but this quote sums up for me an important benefit of all therapies: “Ultimately, we decided it was not what we did that counted but the attitude with which we did it; the same actions done without a non-judgmental attitude would not yield the same results.” Their son wrote the introduction as a young adult. I think all people can sense whether they are valued and respected, regardless of their skills. Providing this is the basis of effective programs and parenting. Kephart, Beth. A Slant of Sun. Norton, 1998. Beth Kephart is exceptional in her ability to tell her young son’s story to us, and this book is unusual because it addresses his only diagnosis that of “PDD-NOS,” a previous diagnostic category under the autism spectrum. For parents who have dealt with this less than helpful nomenclature, this will offer a connection. It is also the story of a young child with autism spectrum disorder, as we now know it, so it will feel familiar to all who have parented a child who grows along this different path. I love Kephart’s thoughtfulness and her appreciation for the complexities of parenthood and how she can describe what she and her husband provided for their son. “I do not believe that my husband and I have healed our child. We do not even know what normal is, what finished looks like, what neurological and environmental hurdles we are still facing…the only truth we have in our house today is that we have given our son the room to heal himself—a safe place, the right friends, information, conversation, a buffer from the world when he needs that buffer…Jeremy has responded to kindness and how surprising can this be? He’s just human, like the rest of us. Carving out his place upon this planet.” Martin, Russell. Out of Silence: An Autistic Boy’s Journey into Language and Communication. Penguin Books, 1994. Russell Martin is well-known for his nonfiction writing, especially Matters Gray and White, a popular science book about the workings of the brain. In this volume, he writes about his nephew’s autism and also about what was known about language development and communication, so he provides the best of creative nonfiction— the science seen through the personal story. Maurice, Catherine. Let Me Hear Your Voice. Alfred A. Knopf, 1993. Catherine Maurice was responsible for a lot of the widespread and intense interest from parents in behavioral programs for children with autism. Her thoughtful

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and well-written account served as a guidepost for those who felt lost in the world of autism treatments. Her section on what behavioral treatments really are is one of the shortest, best accounts I have ever read. She shaped her children’s behaviors away from the autism spectrum towards those typical for other children without this diagnosis. Like all parents (both those who write books and those who don’t), she provides more than a “Lovaas” program. She writes eloquently about enhancing pretend play the same way any “play therapist” would do. I think she sums up quite well the critical factor that can unite many of these different approaches, all of which claim to have led to recovery: “But there is perhaps one thing that Marc and I are now more firmly convinced of than ever: the value, the power of attention. It is very easy to think that if we’re in the same room or the same house with children we are giving them attention. We’re not. Attention is attention. It means getting off the phone, getting away from our work, our reading, our conversation, even our thoughts, and looking at them, talking to them, playing with them.” She is a wise woman and we are lucky to have been able to share in her life story. McDonnell, Jane Taylor. News From the Border: A Mother’s Memoir of Her Autistic Son, Ticknor & Fields, 1993. This is a longish (376 pages) but unforgettable story about Paul and his family. Paul starts out developmentally slowly, with little understandable communication for years. He emerges into a bright, likable, kind young man, one who searches for meaningful friendships, interesting work, and love. The tale is long because it does cover so much territory, both in time (about 20 years of Paul’s life), space (the family travels abroad for sabbaticals and other academic work), and impact on every relationship in the family. Most poignant and difficult is the relationship between Paul and his father, two people who do not understand each other’s way of being and yet who love each other very much. McDonnell has a similar eye for detail as Clara Park, both English professors. The book ends with an afterword by Paul, on his memories of his childhood and his difficult time with depression as an adolescent. There are no treatment breakthroughs here and no family sacrifice for the sake of one child. Paul emerges as a capable and caring human being. McKean, Thomas. Soon Come the Light. Future Horizons, 1994. Although all first-person accounts of the autism experience are valuable for that fact alone, reading this book for me was a little like reading Sean Barron’s accounts without the accompanying narrative of his mother’s. There is a larger story here, but we can only catch glimpses of it through the memory of this young man. The reader has the impression that he grew up in a financially secure but emotionally unreceptive and punitive family, which placed him in a mental institution when he was 15 years old, where he lived for 3 years. The reader wonders: What was he like as a child? What led to the out-of-home placement? Why did his brother run away from home? Does he crave hugs from people for sensory reasons or because he needed more affection as a

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child? What would he have been like had he been better supported? Although we may not get these answers from this volume, his cautionary words of advice are worth heeding: “Parents, please be careful in the way you raise your children. You never know when one of them may grow up to write a book about you.” Oe, Kenzaburo. A Healing Family. Kodansha International, 1995. Translated by Stephen Snyder. It is not rare to hear the voice of a father in these accounts, but it is rare that the voice is from a winner of a Nobel Prize for Literature. American readers may find this account strangely inhibited, perhaps because of a less than ideal translation or perhaps because of real cultural differences. Perhaps we will never fully appreciate what this family risked in keeping their son, who was born with an encephalocele, a congenital brain disorder, within their family. They not only discovered Hikari’s gift for music but also fostered his talent for composing that eventually led to the production of two classical CDs, “The Music of Hikari Oe.” The emotional impact on this father is much better felt in his novel about this experience, A Personal Matter. Park, Clara Claiborne. The Siege: The First Eight Years of an Autistic Child. With an Epilogue. Fifteen Years Later, Little Brown and Company, 1982. First published in 1967, this is one of the earliest book-length parent accounts of life with a child with autism. Park has an exquisite eye for detail and a writer’s ability (she was an English professor) to make each moment clear and alive for the reader. She did not follow the suggestions of friends to try the alternative therapies of her day but chooses instead to work with her daughter at home, watching, interpreting, and trying new ways to reach her. She shares both her discoveries and her failures with the reader, how Elly progressed and how she didn’t and how her family’s life was transformed by this child. In the end, she concludes: “So, then: this experience we did not choose, which we would have given anything to avoid, has made us different, has made us better.” Elly, whose real name is Jessy, and who is an accomplished artist with a unique vision, was featured in Oliver Sacks’ documentary about autism. Schulze, Craig B.  When Snow Turns to Rain; One Family’s Struggle to Solve the Riddle of Autism. Woodbine House, 1993. The child in this family experiences autistic regression and possibly a disintegrative disorder. His loss of skills divides the family’s life into a “before” and “after.” The family’s fight with the educational system, the onslaught of advice called “information sickness” by the father, and their experiences with many different and variably effective therapies will feel familiar to those who have traveled this road. He comes to realize that he cannot pin his own happiness to his son’s recovery or outcome but that if he were to find it, “it would be located deep within myself, in a core of acceptance and love of life, regardless of its outer dress.” Stehli, Annabel. The Sound of a Miracle: A Child’s Triumph Over Autism. Georgiana Institute, 1991. This was easily the saddest story of a family’s journey that I read. Not only did Georgie have autism, but Georgie’s 8-year-old sister died of leukemia, the parents’

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marriage foundered, and they eventually lost all of their possessions when a ship carrying them had to release cargo at sea. Georgie’s mother had to fight against all of the common practices of the past, including the belief that autism (and her daughter’s cancer) was her fault, that all children like Georgie were “retarded,” and that the only thing to do was to institutionalize her. Georgie was always more capable than educational institutions would give her credit for, and she was very verbal long before her treatment with auditory integration. Although AlT is given credit for her recovery, I have seen bright children make this kind of progress without any special therapies except for the hard, daily work of their parents. Suskind, Ron. Life Animated: A Story of Sidekicks, Heroes, and Autism. Los Angeles: Kingswell; 2014. The author is a Pulitzer Prize winning author, who brings intensity and immediacy to the life of his family, including his wife and two sons, the older of which has autism. His son, Owen, experienced significant regression of meaningful language around 3 years of age. The family has sufficient knowledge and resources to investigate, advocate, and create opportunities for Owen. The major breakthrough came when parents realized that Owen’s connection to communication came through his passion for Disney movies, in particular, Aladdin. The story is profoundly moving and reinforces the notion of using a child’s passions as an open window to further development. The effect of teenage bullying on Owen and how long it took the family to realize what was going on is harrowing and unforgettable. Williams, Donna. Nobody Nowhere. Times Books, 1992. As supportive as Temple Grandin’s mother was to her, Donna Williams’ family was not. She was ignored and abused to the point that she developed multiple personalities to cope with her situation. It is difficult for me to know how much her creation of these alter egos was driven by a hostile world and how much from her skill at the mimicry of normal, giving her access to different ways of being. Williams, Donna. Somebody Somewhere. Times Books, 1994. If I could only read one Donna Williams book, I think it would be this volume. Knowing autism from the inside, she is uniquely empathetic to special needs children she works with as an education student. Her descriptions of meeting other young adults with autism are fascinating as are her reports of jobs she has taken to support herself, including apricot picking. Williams, Donna. Like Color to the Blind. Times Books, 1996. Donna Williams is a complex individual with a poet’s soul. No one has more eloquently captured the sensory chaos in words than she. The same artistic sensibility, however, leads her to participate in some unconventional approaches. This memoir is an important contribution to first-hand accounts of adulthood as is her efforts to develop and maintain a relationship with another adult with probable Asperger syndrome. Tina Iyama-Kurtycz, MD, FAAP University of Wisconsin-Madison

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Appendix E: Resources for You and Families Further Information General Information on ASD • The American Academy of Pediatrics: www.aap.org • The National Institutes of Health: www.nimh.nih.gov • Autism Speaks: www.autismspeaks.com Developmental Milestones • From the Centers for Disease Control: www.cdc.gov/ActEarly Positive Parenting • www.ctf4kids.org: For children 0–6 with tips for parents by age from the Children’s Trust Fund • www.ParentsasTeachers.org • www.learning.nspcc.org.uk (from the National Society for the Prevention of Cruelty to Children) • www.livesinthebalance.org Ross Greene’s website advocating essential change to challenging behaviors in children. Social-Emotional Development • Best handout I found for you and parents: • https://www2.ed.gov/about/inits/ed/earlylearning/talk-read-sing/feelingsmilestones.pdf Bullying • Information Sheet on Bullying and Autism Spectrum Disorders, The Spectrum, Vol 2, No.1, Autism 2006. pp.  4–6. Also on the Amaze website: http://www. amaze.org.au/uploads/2011/08/Fact-Sheet-Bullying-and-Autism-SpectrumDisorder-Aug-2011.pdf • Autism Speaks: www.autismspeaks.com • Gray’s Guide to Bullying by Carol Gray, 2001: www.thegraycenter.org Augmentative and Alternative Communication • http://praacticalaac.org An overview of AAC. • www.asha.org The American Speech and Hearing Association’s website provides overview and evidence. How to Spot Pseudoscience • www.quackwatch.com I learned a great deal from the editors of this organization, a healthcare watch dog. There are a number of handouts and related resources that explain quackery, pseudoscience, and specific therapies that lack an evidence base and are not consistent with what we know about science and medicine. • www.skeptoid.com Information on Respite Care • https://www.autismspeaks.org/respite-care-0

Index

A Abnormal social approach, 54 Academic achievement, 92 Adaptive skills, 5 ADHD, see Attention deficit hyperactivity disorder ADHD-Inattentive subtype, 168 Adult living lost generation autism specialists, 196 challenges, 197 cognitive/intellectual disabilities, 195 diagnosis, 195, 196 drug use, 196 epidemic of autism, 195 hidden population, 197 history/records, 196 local autism parent support group, 196 mental retardation, 196 OBS, 197 personality disorders, 196 prevalence of, 195 social challenges, 195 social/communication issues, 196 under-diagnosis, 197 outcomes adaptive skills, 199 challenges, 200 clinical impression, 199 cognitive ability, 199 developmental delays, 200 executive function, 199 factors, 198 independent living, 198

intellectual disability, 198 language development, 197 long-term outcome studies, 199 mortality rates, 200 neurotypical children, 198 options, 197 social differences, 198 social outcomes, 200 social success, 199 transition to after high school, 190, 191 community living programs, 191, 192 financial planning, 190 job offer, 194 late adolescents, 189 legal guardianship, 189, 190 medicaid application, 190 mental health care, 194, 195 primary care providers, 189 rocking/hand flapping, 194 self-determination, 189 special educational support, 189 unpaid internships/competitive employment, 192–194 Adverse childhood experiences (ACEs), 212 Affinity therapy, 142 American Academy of Pediatrics (AAP), 21, 24, 90 American Association on Intellectual and Developmental Disabilities (AAIDD), 103 Antecedent-Based Interventions, 110 Anti-immunization movement, 121

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261

262 Anxiety, 51, 134, 168 agoraphobia, 171 desensitization programs, 171 escalation, 170 extreme anxiety, 169 intolerance of uncertainty, 170 OCD, 170, 171 parent anxious, 169 prevalence of, 169 restraint, 170 separation anxiety, 171 social anxiety, 171 treatment of, 171, 172 Applied behavioral analysis (ABA), 110, 111 Arginine vasopressin (AVP), 118, 119 Array comparative genomic hybridization (aCGH), 76 Attention deficit hyperactivity disorder (ADHD), 14, 51, 205, 209 Augmentative and Alternative Communication (AAC), 112, 147, 148 Autism Diagnostic Interview-Revised (ADI-R), 36, 218 Autism Diagnostic Observation Schedule (ADOS), 15, 16 Autism Diagnostic Observation Schedule-2 (ADOS), 218 ADI-R, 36 atypical prosody, 39 audiology, 38 autism clinic, 37 CARS, 36 child psychology, 38 classically autistic child, 39 clinically-administered test, 36 developmental and behavioral pediatricians, 38 developmental level, 36 developmental problem, 38 diagnostic test, 36 DSM-5 criteria, 36 evaluations, 37 exam room, 39 interdisciplinary team, 37 medical/nursing assistant, 39 occupational therapy, 38 open-ended questions, 39 SLPs, 38 social and communication skills, 37 social, communication and behavioral criteria, 36 social reciprocity, conversation and behaviors, 36 social work, 38

Index specific disabilities, 37 subtly affected child, 39, 40 Autism service providers, 91 Autism specialty clinic, 36 Autism spectrum disorder (ASD) diagnose classic cases, 235 in females ADI-R, 218 ADOS-2, 218 anti-testosterone medication, 217 developmental disability, 219 discrepant ratio, 217 estimates, 219 gold standard testing, 217 higher-functioning, 218, 219 IQ’s and lower function, 218 prenatal exposure to testosterone, 217 social/communication impairment, 218 under-identification, 218 X-linked conditions, 217 primary care providers, 235 social learning, 235 Autistic children, 56 B Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT), 22, 23 Behavioral conditions, 4 Behavior disorders, 4 Birth-to-Three program, 91 Birth-to-Three therapist, 89 Brief Infant-Toddler Social and Emotional Assessment (BITSEA), 23 Broader autism phenotype (BAP), 43 C Challenging behaviors, 145, 146 antecedent, 146 behavioral delay, 146 child’s intense reactions, 145 consequence, 146 effective parenting, 146, 147 functional behavioral analysis, 146 hand flapping/jumping, 147 in-home therapists, 146 negative behaviors, 147 resources, 147 safety issues, 150 animals, 153 diagnosis and sensory issues, 150 elopement, 152, 153

Index fires/hot things, 151, 152 functional gross motor skills, 150 head banging, 151 high pain tolerance, 150 hitting, 151 impaired adaptive skills, 150 impaired cognitive skills, 151 impulsivity, 150 mouth objects, 153 neurotypical children, 150 room dangers, 153 social rules, 151 stranger danger, 153 sensory issues, 146 social use of language, 147–149 standardized testing, 153–155 triggers, 146 unintentional reinforcement, 146 verbal child, 149 Child Behavior Checklist (CBCL), 221 Childhood Apraxia of Speech (CAS), 208 Childhood Autism Rating Scale (CARS), 36 Childhood Disintegrative Disorder (CDD), 27 Cognitive Behavior Therapy (CBT), 113 Cognitive disability (CD), 206, 207 Cognitive/intellectual impairment, 168 Complexity of material, 168 Congenital rubella, 70 Culture African American, 226 Asian Indian families, 227 diagnosis, 226 families’ response African American, 228, 229 cross-cultural study, 229 cultural social communities, 229 negative appraisals, 227 parents’ beliefs, 228 positive appraisals, 227 recommendations, 228 immigrant vs. non-immigrant populations, 225 Korean children, 226, 227 Latino children, 226 non-respondents, 225 race and multiculturalism, 225 recommendations, 229, 230 parents’ perception, 230 strength based assessment, 230 rural communities, 227 specific populations, 225 surveys, 225 Cyber bullying, 143

263 D Developmental conditions, 4 Developmental coordination disorder, 124 Developmental diagnosis, 15 ADHD, 14 Alzheimer’s, Parkinson’s and Traumatic Brain Injury, 12 and behavioral pediatricians, 13 anxiety/impulsivity, 16 Autism Diagnostic Observation Schedule, 15, 16 challenges, 16 child’s developmental outcome, 11 communication, 10 Developmental and Behavioral Pediatrics, 11 developmentally disabled, 11 developmental questions, 9 developmental screening, 9 developmental therapies, 14 EIBI, 14 eye contact, impairment in, 14, 15 fatal outcome, 13 global developmental delay, 12, 14 intellectual disability, 12, 14 intensive and extensive interventions, 12 issues, 10, 11 language disorder, 14 low functioning autism, 15 mental retardation, 12 mild mental retardation, 10 myths, 9 non-autistic population, 13, 14 parental frustration/understanding, 13 parental questions, 9 pediatricians and parents, 10 peek-a-boo game, 15 population control, 11 primary care providers, 9 rate cancer vs. autism, 11 responses types, 12 screening tools, 11, 12 social impairment, 16 special education services, 14 Wisconsin autism insurance, 13 Developmental levels diagnostic decision, 86, 87 in children sociability, 85, 86 3 years to School Age, 80–85 under 3 years, 79, 80 medical recommendations, 87, 88

264 Developmental physical exam dysmorphology exam, 70 craniofacial exam, 72, 73 Down syndrome, 74 FXS, 73 genetic tests, 76, 77 gestalt impression, 71, 72 indications, 71 neurofibromatosis type 1, 75, 76 Rett syndrome, 73, 74 tuberous sclerosis, 75 Williams syndrome, 74, 75 general physical exam abdomen/genitalia, 70 cardiovascular, 70 diagnostic purposes, 69 evaluation, 69 extremity deformities, 70 eye contact, 69, 70 oral cavity, 70 skin, 70 neurologic exam child psychiatrists, 69 inset on foreshadowing, 65–69 Developmental problem, 4 Diagnosis, 3–5, 35, 90 Diagnostic and Statistical Manual (DSM), 5 Differential diagnoses, 211 ACEs, 212 ADHD, 209 adjustment disorder, 211 anxiety, 210 CAS, 208 catatonia, 212, 213 childhood bipolar disorder, 210 developmental descriptions, 205, 206 developmental language disorder, 208, 209 evaluation, 214 hand flapping, 205 in older children behavioral strategies, 215, 216 developmental pediatricians, 215 early developmental history, 214 in females, 214 infancy/preschool, 214 mental construct, 214 poor social skills, 214 school-aged child, 215 symptoms, 214, 215 trained psychologists, 215 intellectual disability, 206, 207 learning disability, 207 MBP, 213

Index mood disorders, 210 NVLD, 207, 208 OCD, 210 ODD, 211 overlapping Venn diagrams, 205 premorbid/childhood onset schizophrenia, 210 primarily behavioral concerns, 205 RAD, 211, 212 sensory processing disorder, 209, 210 sociopathy/antisocial personality disorder, 213 symptoms, 206 Tourette syndrome, 205 training and experience, 205, 206 Differential diagnosis, 51 Disinhibited social engagement disorder, 212 Documentation abnormal results, 104 Association for Retarded Citizens, 103 developmental diagnoses, 104 developmental profile, 104 electronic medical record, 103, 104 intellectual disability, 103 mental retardation, 103 People First movement, 103 recommendations, 104, 105 residents, 104 Down syndrome (DS), 43, 70, 233 DSM-5 criteria, 36, 52, 53 Duchenne muscular dystrophy, 5 E Early Childhood Programs (ECP), 97, 98 Early intensive behavioral interventions (EIBI), 14, 98 AAC, 112 ABA, 110, 111 Applied Behavior Analysis and Discrete Trial Training, 109 early intervention, 111 ESDM, 112 improvement rate, 111 intellectual disability, 111 IQ scores, 111 JASPER programs, 112 Lovaas method, 110 medical insurance payors, 111 mildly retarded, 109 NDBI, 110–112 negative behaviors, 110 profoundly retarded, 109

Index results, 109 severely retarded, 109 special education programs, 109 treatment group, 109 Early Start Denver Model (ESDM), 110, 112 Emergency department (ED), 135 Evaluation, 90 Evidence-based treatments EIBI (see Early intensive behavioral interventions) medications acamprosate (Campral), 118 anxiety, 118 appetite, 118 arbaclofen, 118 bipolar disorder, 114 folinic acid, 118 frequent waking, 117 haloperidol, 115 hyperactivity, 116 inattention, 116, 117 irritability, 115, 116 limitations, 118 open-label studies, 118 OT and AVP, 118, 119 pharmacotherapy, 119 poor sleep, 117 pregnenolone, 118 primary care providers, 114 randomized controlled studies, 118 symptoms, 114 for older children CBT, 113 intensive autism providers, 112 interventions, 112 PEERS, 113, 114 speech and language therapy, 114 strengths and weaknesses, 112 services, 105 Eye contact, 55 F Facial expressions, 55 Facilitated communication (FC), 128 Federal law, 105 Fixated interests, 59 Folate receptor autoantibody (FRAA), 118 Foreshadowing, 134 Fragile X syndrome (FXS), 73, 233 Freedman study, 90 Functional Behavioral Analysis, 146 Functional Communication Training, 110

265 G Gender dysphoria CBCL, 221 cognitive rigidity, 222 cultural expectations, 222 depression, 224 extreme male brain, 222 gender variance, 222 general population, 221 LGTBQ identity, 223 non-assigned gender, 221 obsession/focused interest, 222 online surveys, 223 romantic relationships, 223 sexual orientation, 222 symptoms, 221 van der Miesen study, 221, 222 Genetic factors, 3 Genetic syndromes, 5 Gestural communication, 55, 56 Gestures, 55 Gluten free/casein free diets(GF/CF), 126 H Habit training, 164 Heller’s dementia, 63 High Functioning Autism (HFA), 64 Hippotherapy, 125 History, 51, 52 birth-to-3 therapists/day care providers, 45 cerebral palsy, 41 child’s personality, 45 clinical situation, 41 developmental differences, 44 diagnostic criteria, 45 Down syndrome, 43 DSM criteria, 44 genetic disorder, 41 gestural communication, 47–49 in infants, 42 interviewing, 45, 46 IQ scores, 44 language and social characteristics, 43 observations, 44 open-ended question, 41, 42 reassurance, 44 receptive language milestones, 46, 47 relationship issues, 45 toddlers, 42, 43

266 Hyperbaric oxygen (HBO), 126 Hyper/hyporeactivity Asperger syndrome, 62, 63 autistic disorder, 62 CDD, 63 HFA, 64 issues, 60 pain, 61 pervasive developmental disorder, 63 position sense, 61, 62 RTT, 63 sensory aspects, 59, 60 sight, 61 smells, 60 sound, 60 taste, 61 temperature, 61 touch, 60, 61 Hypertension analogy, 99 Hypotonia, 124 I Immunization, 92 Impaired social awareness, 168 Impaired social reciprocity, 54 Impairment, 3 Individualized Educational Plan (IEP) adult services, 100, 101 autism treatment, 95 Birth-to-Three programs, 96, 97 developmental disability services, 95 ECP, 97, 98 EIBI, 98 elementary school, 99 high school, 100 homeschool, 100 Infant Mental Health Certificate, 97 mental health, 95 middle school, 99 parent support groups, 96 post-secondary education, 101 requirement of, 97 school-aged, 98, 99 social skill delays, 97 In-home autism programs, 93 Institutional autism, 212 Intellectual disability (ID), 12, 14, 206, 207 Interdisciplinary (ID) team, 37 J JASPER program, 112 Job coach, 193

Index K Knowledgeable social workers, 105 L Language-delayed children, 87 Language disorder, 14 Language level, 168 Language pragmatics, 46 Learning disability (LD), 51, 207 Lovaas therapy, 111 M Macrocephaly, 71 Massively multiplayer online games (MMOs), 143 MBP, 213 Measles/mumps/rubella (MMR), 127 Megalencephaly, 71 Mental retardation (MR), 12 Microcephaly, 71 Miracle Mineral Solution (MMS), 129 Modified Checklist for Autism in Toddlers (MCHAT), 22 N Naturalistic Developmental Behavioral Interventions (NDBI), 110–112 Neurodevelopmental disorder, 3 Neurofibromatosis type 1 (NF 1), 75, 76 Neuroleptic malignant syndrome (NMS), 115 Neurotypical people, 6 Non-autistic children, 56 Non-autistic individuals, 52 Nonverbal communicative behaviors, 55 Nonverbal Learning Disability (NVLD), 207, 208 Non-verbal skills, 5 O Obsessive compulsive disorder (OCD), 170, 171, 205, 210 Occupational therapists, 124 Oppositional defiant disorder (ODD), 211 Organic Brain Syndrome (OBS), 109, 197 Oxytocin (OT), 118, 119, 205 P Parental reaction, 89, 90 Parental support, 91, 92

Index Parenting skills adult behaviors, 137 behavioral delay, 137 being calm, 138, 139 being clear, 138 consistency, 139, 140 expectation and ability, 137 obsession, 141 “No orifice” rule, 139 passions, 140, 141 screen time affinity therapy, 142 anticipatory guidance, 141 art/music works, 143 calming activity, 142 caveats, 141 cell phone, 141 computers, 141 cyber bullying, 143 Harry Potter series, 142 hikikomori, 143 Internet Gaming Disorder warrants, 143 learning interest, 142 media, 142 medication, 143 neurotypical children, 142 World of Warcraft/Star Wars Commander, 143 YouTubeKids, 141 sense of time, 144 speech processing delays, 138 stress mode, 138 PCPs, 180, 181 PDQ-1, 23 Pediatric nurse practitioners, 13 PEERS, see Program for the Education and Enrichment of Relational Skills Physician assistants, 13 Pivotal Response Training, 110 Placebo effect active substance, 123 aggression, 123 complementary and alternative interventions, 121 developmental disabilities, 123 early intensive behavioral programs, 122 hyperbaric oxygen therapy chambers, 122 implausible interventions, 123, 125 auditory integration training, 129 chelation, 127 craniosacral therapy, 129 energy field manipulation, 129 facilitated communication, 128

267 GF/CF, 126 HBO, 126 homeopathy, 129 immunization refusal, 127 lupron, 127 MMS, 129 vitamin supplements, 125 improvement over time, 122 logical thinking, 122 open-label studies, 123 parents report improvement, 123 pediatric infectious diseases, 121, 122 plausible interventions, 123 animal therapies, 124 developmental therapies, 124 therapeutic riding, 125 positive behaviors, 123 resources, 121 secretin, 123 unconventional therapies, 121 Playdates, 173 Post-traumatic stress disorder, 212 Prevention Down syndrome, 233 environmental factors, 234 eugenics, 233 folic acid, 233 Fragile X syndrome, 233 immunizations, 234 inflammation, 233, 234 maternal rubella, 234 pre-symptomatic, 234 risk factors, 234 self-advocates, 234 Primary care practitioner, 5 Primary care provider adolescence benefits, 177 bullying, 180–182 developed friendships, 178–180 diagnosis, 178 expected daily routine, 177 gender identity, 183, 184 individualized educational goals, 177 juvenile justice system, 182 language level and cultural setting, 183 medical needs, 178 passions, 177 safety, 184 same-aged peer, 177 self-driving cars, 184–186 sexuality and dating, 183 violence prevention, 182

268 Primary care provider (cont.) behavioral strategy, 161 constipation chronic constipation, megacolon and encopresis, 163 cognitive abilities, 163 failure and frustration, 163 gastro-colic reflex, 165 hypotonia, 162 sensory issues, 162 toilet training, 163–165 dental anatomy, 166 food intolerance, 160, 161 good portion control, 161 in-home behavior programs, 162 nursing, 160 overeating, 162 poor sleep, 158, 159 portion control, 162 school-aged issues anxiety (see Anxiety) community-based activities, 174, 175 fine motor skills, 174 handwriting, 173, 174 homeschooling, 176, 177 inattention, 167–169 patient’s schools, 175, 176 reciprocal relationships, 172, 173 summertime syndrome, 176 seizures/epilepsy, 166, 167 tantrums, 165, 166 vision and hearing, 157, 158 vitamin deficiencies, 161 Primary care providers, 4, 5 Program for the Education and Enrichment of Relational Skills (PEERS), 113, 114, 181, 182 Protodeclarative pointing, 48 Protoimperative pointing, 48 R Reactive attachment disorder (RAD), 211, 212 Reciprocal social interactions, 3 Reputable and disreputable sources, 7 Restricted and repetitive behaviors (RRB’s), 170, 171, 208, 229 Rett syndrome, 27, 63, 73, 74 Routine screening AAP, 21 birth-to-three programs, 20 BISCUIT, 22, 23 BITSEA, 23 blinded observers, 25

Index brain plasticity, 19 brief and personal history, 20 CDD, 27 Child Development Review, 20 children and brain development, 28 community-based sample, 24 conflicts between parents, 30 critical items, 22 developmental delays, 25 developmental disorder, 28 developmental levels, 24 developmental regression, 26, 27 developmental risk, 19 developmental therapy, 25 early diagnosis, 30 early identification, 25 evaluation indicators, 21 evidence, 19, 26 eye contact, 28 facial expressions, 25 general pediatric clinics, 20 genetics and environmental factors, 19 goal of, 19 health supervision, 20 home program, 25 infant sibling program, 28 infant sibling research, 25 insurance, 26 intervention, 29 laboratory value, 20 lower test scores, 24 MCHAT, 22 medical model, 24, 25 parental concern, 21, 24 PDQ-1, 23 prevention, 19 primary care offices, 19 primary care providers, 20 receptive language, 27 referrals, 21 regression, 27 SCQ, 22 screen results, 21 social interaction, 28 standardized developmental screeners, 21 USPSTF, 24 S Salience, 57 Self-directed thoughts, 168 Sensory issues, 133, 168 Sensory processing disorder, 209, 210 Sharing of interests, 54

Index Social and communication skills, 91 Social and communicative reciprocity, 52 Social communication, 54 Social Communication Questionnaire (SCQ), 22 Social contexts, 56–59 Social interactions, 54, 92 Social milestones, 48 Social (pragmatic) communication disorder, 208 Social story, 134, 135 Social use of language, 48 Society for Developmental and Behavioral Medicine (SDBM), 24 Speech and language pathologists (SLPs), 38, 46 Standardized cognitive testing, 92 Statistics, 90 Supported decision making, 189

269 T Therapeutic riding, 125 Treacher Collins syndrome, 72 Tuberous sclerosis (TS), 75 22q11 deletion syndrome, 70 U Uniquely Human, 133 US Preventive Services Task Force (USPSTF), 24 V Verbal reasoning, 5 W Websites, 90 Williams syndrome, 70 Working memory, 168