Essential Clinical Guide to Understanding and Treating Autism E-Book
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- Herausgeber: John Wiley & Sons
- Kategorie: Fachliteratur
- Serie: What is Politics
- Sprache: Englisch
Coauthored by the premier expert on autism in the United States and an experienced academic and practicing pediatrician, this volume provides concise and practical information based on the most up-to-date research and clinical experience for primary care givers around the world. Showing clinicians how to most effectively use evidence-based techniques, this invaluable guide offers primary-care providers access to expert, current research and practice guidelines allowing them to confidently support children who present with symptoms of autism.
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Table of Contents
Cover
Title Page
Preface
CHAPTER 1: What Is Autism?: Diagnostic Concepts, Causes, and Current Research
The Discovery of Autism
Some Early Mistakes About Autism
Other Conditions on the Autism Spectrum and Changes with
DSM‐5
Changes with
DSM‐5
Epidemiology of Autism and Related Conditions
What Causes Autism?
Services for Children with Autism
Current Research
Summary
CHAPTER 2: Screening and Diagnostic Assessment
The Role of Diagnosis
Warning Signs in Young Children
Screening in Older Children, Adolescents, and Adults
What to Do If a Screen Is Positive
Comprehensive Diagnostic Assessments
Medical Evaluations and Assessment
Provision of Services
Summary
CHAPTER 3: Approaches to Providing Medical Care
Helping Medical Visits Be Successful
Dental Care
Special Health Care Situations: Emergency Department and Hospital Stays
Drug Interactions and Side Effects
Immunizations and Autism
Risks Associated with Medication Use
New Models of Care: The Medical Home
Practice Guidelines and Evidence‐Based Practice
Summary
CHAPTER 4: Frequent Medical Conditions and Problems
Seizure Disorders
Genetic Conditions Related (or Potentially Related) to Autism
Other Genetic Conditions
Hearing and Vision Problems
Eating and Feeding Problems
Sleep and Sleep Problems
Safety
Bullying
Summary
CHAPTER 5: Overview of Educational Programs and Interventions
Model Programs: An Overview
Autism‐Focused Curricula
Adaptive Skills and Generalization to Real‐World Settings
Working with Schools
Summary
CHAPTER 6: Securing Services
The Mandate for Identification
Free and Appropriate Public Education
Eligibility for Services
Individualized Education Plan (IEP)
Special Education and Related Services
Special Issues for Young Children
Coordination Between School and Private Providers
Adult Services
Summary
CHAPTER 7: Autism in Infants and Preschool Children
Signs of Autism Before 1 Year of Age
Signs of Autism Between 12 and 36 Months
Asperger's and the Broader Autism Spectrum
Screening for Autism and First Steps in Getting a Diagnosis and Service
Access to Services for Very Young Children
Program Content
Summary
CHAPTER 8: School‐Age Children
Development and Behavior
Sensory and Behavioral Issues
Gender Differences
School‐Related Issues
Academics and Curriculum
Teaching Procedures and Programs
Mainstreaming and Peer Preparation
Bullying and Teasing
Summary
CHAPTER 9: Adolescents and Adults
Adolescence
Moving to Adulthood
Summary
CHAPTER 10: Behavioral and Psychiatric Problems: Issues and Interventions
Behavioral Interventions: An Overview
Types of Behavioral Difficulties
Mental Health Issues and Behavior Problems
Summary
CHAPTER 11: Considering Medications for Behavior and Mental Health Problems
Mental Health Issues in Autism
When to Use Medication
Autism and Related Conditions
Medications for Attentional Problems
Medicines to Reduce Anxiety
Combining Medications
New and Developing Agents
Summary
CHAPTER 12: Considering Complementary and Alternative Treatments
Talking with Parents About Complementary and Alternative Treatments
An Overview of Complementary and Alternative Treatments
Off‐Label Drug Treatments and Medical Procedures
Other Interventions
Summary
CHAPTER 13: Supporting Families
Challenges and Stresses
Support from Educators and Others
Marital Issues
Single‐Parent Families and Divorce
Grandparents and Family Members
Siblings
Family Engagement, Generalization, and Life in the Community
Summary
APPENDIX 1: Diagnostic Descriptions and Criteria for Autism and Related Pervasive Developmental Disorders
APPENDIX 2: Understanding School and Specialist Assessment
Understanding Test Results
Psychological Assessment
Speech‐Language‐Communication Assessments
OT and PT Assessments
Putting It All Together
References
Suggested Reading
Glossary
Index
End User License Agreement
List of Tables
Chapter 2
TABLE 2.1 SELECTED SCREENING INSTRUMENTS FOR AUTISM
TABLE 2.2 SELECTED DIAGNOSTIC ASSESSMENT INSTRUMENTS FOR AUTISM
Chapter 4
TABLE 4.1 TYPES OF REGRESSION IN AUTISM
Chapter 5
TABLE 5.1 EXECUTIVE FUNCTIONING DEFICITS AND DIFFICULTIES IN CHILDREN WITH AUTISM AND ASPERGER'S
Chapter 6
TABLE 6.1 KEY TERMS AND CONCEPTS
Chapter 7
TABLE 7.1 FREQUENTLY USED DEVELOPMENTAL ASSESSMENTS
TABLE 7.2 SELECTED SPEECH‐COMMUNICATION ASSESSMENTS
Chapter 10
TABLE 10.1 COMMON BEHAVIORAL AND MOOD PROBLEMS IN AUTISM SPECTRUM CONDITIONS
TABLE 10.2 COMMON MISTAKES IN DEALING WITH BEHAVIOR PROBLEMS
Chapter 11
TABLE 11.1 SELECTED SECOND‐GENERATION ATYPICAL ANTIPSYCHOTICS
TABLE 11.2 SELECTED FIRST‐GENERATION ANTIPSYCHOTIC MEDICATIONS
TABLE 11.3 SELECTED MEDICATIONS FOR TREATMENT OF ADHD
TABLE 11.4 SELECTED ANTIDEPRESSANTS AND SEROTONIN REUPTAKE INHIBITOR MEDICATIONS
TABLE 11.5 SELECTED MOOD STABILIZERS
TABLE 11.6 SELECTED ANTIANXIETY MEDICATIONS
Appendix 2
APPENDIX TABLE 2.1 SELECTED TESTS OF INTELLIGENCE AND DEVELOPMENT
APPENDIX TABLE 2.2 FREQUENTLY USED SPEECH‐LANGUAGE‐COMMUNICATION ASSESSMENTS
APPENDIX TABLE 2.3 MOTOR AND SENSORY‐MOTOR TESTS
List of Illustrations
Chapter 1
FIGURE 1.1 Handwashing: Stereotyped Hand Movements in Rett's Disorder.
FIGURE 1.2 Visual focus of a typically developing adult (top line) and a high‐functioning man with autism (bottom line) while viewing a short movie clip from the classic film
Who's Afraid of Virginia Woolf?
The typically developing individual focuses on the top portion of the face while observing the interaction; the individual with autism focuses on the mouth region (losing much of the social‐emotional information).
Chapter 4
FIGURE 4.1 Rates of first seizure, excluding febrile seizures, in two samples of individuals with autism (Deykin & MacMahon, 1979; Volkmar & Nelson, 1990) and a normal British sample (Cooper, 1975).
Chapter 7
FIGURE 7.1 Eye gaze pattern in a 2‐year‐old with autism. The image is generated using infrared eye tracking and shows the unusual gaze of a toddler with autism. Rather than looking at any of the characters in the scene, the child focuses on what, to most toddlers (and adults), would be much less relevant details.
Chapter 10
FIGURE 10.1 Bolting and running behavioral data from Willy. Data represented for consecutive school days and indicate changes in behavior procedures.
Guide
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Essential Clinical Guide to Understanding and Treating Autism
Fred R. VolkmarLisa A. Wiesner
Copyright © 2017 by John Wiley & Sons, Inc. All rights reserved.
Published by John Wiley & Sons, Inc., Hoboken, New Jersey.
Published simultaneously in Canada.
No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, scanning, or otherwise, except as permitted under Section 107 or 108 of the 1976 United States Copyright Act, without either the prior written permission of the publisher, or authorization through payment of the appropriate per-copy fee to the Copyright Clearance Center, Inc., 222 Rosewood Drive, Danvers, MA 01923, 978-750-8400, fax 978-646-8600, or on the Web at www.copyright.com. Requests to the publisher for permission should be addressed to the Permissions Department, John Wiley & Sons, Inc., 111 River Street, Hoboken, NJ 07030, 201-748-6011, fax 201-748-6008, or online at www.wiley.com/go/permissions.
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Library of Congress Cataloging-in-Publication Data:
Names: Volkmar, Fred R., author. | Wiesner, Lisa A., author.
Title: Essential clinical guide to understanding and treating autism / by Fred R. Volkmar, Lisa A. Wiesner.
Description: First edition. | Hoboken, New Jersey : Wiley, [2018] | Includes bibliographical references and index. |
Identifiers: LCCN 2017015023 (print) | LCCN 2017015963 (ebook) | ISBN 9781119427049 (pdf ) | ISBN 9781119427124 (epub) | ISBN 9781118586624 (pbk.)
Subjects: | MESH: Autistic Disorder—therapy | Autistic Disorder—psychology | Autism Spectrum Disorder—therapy | Autism Spectrum Disorder—psychology | Infant | Child | Adolescent | Adult
Classification: LCC RC553.A88 (ebook) | LCC RC553.A88 (print) | NLM WS 350.8.P4 | DDC 616.85/882—dc23
LC record available at https://lccn.loc.gov/2017015023
Cover image: © Ilya Terentyev/iStockphoto; © OkinawaPottery/Getty Images
Cover design: Wiley
First Edition
Preface
The last several years have seen major changes in the health care delivery system. Increasingly, primary care providers are being asked to assume a greater role in the management of medical care for individuals with developmental and behavioral problems. These responsibilities can range from early screening and case management to the care of adults with continuing difficulties. To further complicate things, the system for mental health coverage varies quite widely (and wildly) with many specialist providers taking no insurance. Somewhat paradoxically, at least in the United States (and to some extent in other countries), there is a three‐tiered approach with basic care covered under insurance programs such as Medicaid for individuals who quality for it, privately reimbursed coverage for those who can afford it (often, but not always, the highest level of service), and, for much of the middle class, insurance coverage that is remarkably spotty—with some providers who often are under tremendous pressure and scrutiny. Yet another set of issues arises for individuals who receive services from various providers and agencies, for example, child psychiatrists, social workers, educators, psychologists, speech pathologists, behavior specialists, and so on. The primary care provider has an increasingly important role in care coordination and provision of a “medical home” (Hyman & Johnson, 2012; Knapp et al., 2013). This book is written to address the needs of primary care providers for what we hope is an accessible and straightforward guide to medical care for individuals with autism, Asperger's, and the broader autism spectrum group of conditions.
We are, respectively, an academic child psychiatrist (clinician researcher) and a pediatric primary care provider. We hope that our different backgrounds have helped us focus on what is most important for primary care providers to know about autism and related conditions. We have tried to be concise but reasonably comprehensive. You will see that chapters have references and often lists of additional reading resources. One of the challenges in doing a book of this kind is the tremendous growth in the scientific and lay literature on the topic. There are now nearly 30,000 scientific papers on the topic, not to mention the many books and chapters; a quick Google search will yield an initial set of over 25,000 hits. Accordingly, we have tried to identify the most relevant and accessible resources for those who desire additional information or to read primary sources.
There are many excellent resources not included here, although we've tried to give a reasonable sample of the best ones available. We have tried to combine a life‐span approach with a focus, in some chapters, on specific age groups. As we note somewhat sadly, the literature is most limited when it comes to adults with autism spectrum disorder (ASD) (a growing and important population and a population not always well served by the health care system). You will see that we also have included a chapter on alternative treatments—obviously here we're not recommending treatments but are giving primary care providers relevant information. In our experience a majority of parents of children with autism will engage in at least one such treatment, and it is important that they be able to have a discussion with their child's primary care providers about these treatments. We also include a chapter on behavior management issues as well as another on medications—we emphasize that primary care physicians (PCPs) who are less familiar with these medications should use local resources and consultations and always be aware that research is ongoing and there may be changes in indications, doses, and so forth.
Increasingly with earlier diagnosis and intervention more children with autism and related conditions are becoming self‐sufficient adults—often with some continued vulnerability—but they are able to live independently and have productive and fulfilling lives. For others, unfortunately, longer‐term involvement of parents and family is needed, and these individuals also need PCPs who are knowledgeable about autism.
As you will see from this book many professionals are involved throughout the individual's life. PCPs have an important role in helping these specialists talk with each other, the individual, and his or her family. As one of our teacher's often said, “if you meet one person with autism you've met one person with autism.” As you work more with this group of patients you'll likely agree with this point of view.
We are grateful to a number of our colleagues who have reviewed parts of this book in our efforts to make it helpful to primary care providers who deal with individuals with autism and their families. We have profited from their wisdom and comments. They include Karen Bailey, MSW; Leah Booth, CC‐SPL; Kasia Chawarska, PhD; Michelle Goyette‐Ewing, PhD; Roger Jou, MD, PhD; Kathy Koening, MSN, APRN; James McPartland, PhD; and Nancy Moss, PhD. We also particularly thank Ellen Keene, JD, for her extremely helpful review of the chapter on legal issues. We also are grateful to our editor, Patricia Rossi, and the staff at Wiley for their unflagging support and help in making this book as readable as possible. We also thank Lori Klein and Evelyn Pomichetr for their secretarial assistance and Logan Hart for helping us identify resources. Finally, we thank our own children, who have taught us much about child development, and, of course, our patients and their families, who have taught us much about autism.
REFERENCES
Hyman, S. L., & Johnson, J. K. (2012). Autism and pediatric practice: Toward a medical home.
Journal of Autism and Developmental Disorders
,
42(6), 1156–1164.
Knapp, C., Woodworth, L., Fernandez‐Baca, D., Baron‐Lee, J., Thompson, L., & Hinojosa, M. (2013). Factors associated with a patient‐centered medical home among children with behavioral health conditions.
Maternal and Child Health Journal
,
17(9), 1658–1664.
CHAPTER 1What Is Autism?Diagnostic Concepts, Causes, and Current Research
Autism and related conditions (now widely known as autism spectrum disorders, or ASDs) are disorders that share significant social disability as a major defining feature. This social disability is quite severe, and its severity and early onset lead to more general and pervasive problems in learning and adaptation. Over the years there have been a number of changes in classification, and for purposes of completeness we'll give a brief summary of these conditions here. Then we'll go on to briefly review what we know about causes and review some of the current research on the condition. For primary care providers it is helpful to understand how our understanding of autism has changed over time and how it is manifested clinically. Subsequent chapters will review aspects of autism and related conditions in more depth. This chapter gives an overview of diagnostic concepts, causes of the condition, and current research.
The Discovery of Autism
The condition known as autistic disorder, childhood autism, or infantile autism (all three names mean the same thing) was first described by Dr. Leo Kanner in 1943 (although cases had likely been noted earlier). Kanner reported on 11 children with what he termed “an inborn disturbance of affective contact,” that is, these children came into the world without the usual interest in other people and in dealing with the social world. (For an interesting, and somewhat divergent, set of views on the development of autism as a concept see the books by Donvan and Zuker [2016] and Silberman [2015] in the reading list at the end of this chapter.) Dr. Kanner gave a careful and detailed description of the unusual behaviors these cases exhibited. Kanner mentioned that these children exhibited “resistance to change.” He also identified them as having an “insistence on sameness.” For example, these children might require that their parents take the same route to school or church and become very upset if there was any deviation from this routine. They might panic if anything in their living room was out of place. They might be very rigid about what kinds of clothes they would wear or foods they would eat. The term resistance to change also was used to refer to some of the unusual behaviors frequently seen in children with autism, for example, the apparently purposeless motor behaviors (stereotypies) such as body rocking, toe walking, and hand flapping; Kanner felt that these behaviors might be helping the child “maintain sameness.”
Kanner mentioned that when language developed at all it was unusual. For example, the child with autism might fail to give the proper tone to his or her speech (that is, might speak like a robot) or might echo language (echolalia) or confuse personal pronouns (pronoun reversal). Or, when asked if he or she wanted a cookie, the child might respond “Wanna cookie, wanna cookie, wanna cookie.” Sometimes the language that was echoed was from the distant past (delayed echolalia). Sometimes it happened immediately (immediate echolalia). Sometimes part of it was echoed but part had been changed (mitigated echolalia).
In his original report Kanner thought there were two things essential for a diagnosis of autism—first the autism that is social isolation and second the unusual behaviors and insistence on sameness. (See Box 1.1.)
BOX 1.1 KANNER'S DESCRIPTION OF AUTISM
The outstanding, “pathognomonic,” fundamental disorder is in the children's inability to relate themselves in the ordinary way to people and situations for the beginning of life. Their parents referred to them as having always been “self‐sufficient”; “like in a shell”; “happiest when left alone”; “acting as if people weren't there”; “perfectly oblivious to everything about him”; “giving the impression of silent wisdom”; “failing to develop the usual amount of social awareness”; “acting almost as if hypnotized.” This is not, as in schizophrenic children or adults, a departure from an initially present relationship; it is not a “withdrawal” from formerly existing participation. There is from the start an extreme autistic aloneness that, whenever possible, disregards, ignores, shuts out anything that comes into the child from outside. Direct physical contact or such motion or noise as threatens to disrupt the aloneness is either treated “as if it weren't there” or, if this is no longer sufficient, resented painfully as a distressing interference.
… This insistence on sameness led several children to become greatly disturbed upon the sight of anything broken or incomplete. A great part of the day was spent in demanding not only the sameness of the wording of a request but also the sameness of the sequence of events.
… The dread of change and incompleteness seems to be a major factor in the explanation of the monotonous repetitiousness and the resulting limitation in the variety of spontaneous activity. A situation, a performance, a sentence is not regarded as complete if it is not made up of exactly the same elements that were present at the time the child was first confronted with it. If the slightest ingredient is altered or removed the total situation is no longer the same and this is not accepted as such, or it is resented with impatience “or even with a reaction of profound frustration.”
Source: Kanner (1943, pp. 242, 245, 246).
By the late 1970s there was a consensus that autism was characterized by (1) impaired social development of a type quite different from that in normal children, (2) impaired language and communication skills—again of a distinctive type, (3) resistance to change or insistence on sameness as reflected in inflexible adherence to routines, motor mannerisms, and stereotypies, and other behavioral oddities; and (4) an onset in the first years of life. There have been some changes in how autism is diagnosed since that time and we'll discuss them shortly, but we should also note some important (and persistent) mistakes about autism.
Some Early Mistakes About Autism
Although Kanner's description remains a “classic,” it was not, of course, the last word on the subject. Some aspects of his original report misled early clinicians and investigators.
Autism and Intelligence
Kanner originally thought that children with autism probably had normal intelligence. He thought this because they did rather well on some parts of intelligence (IQ) tests. On other parts of these tests, however, they did quite poorly or refused to cooperate at all. Kanner assumed that, if they did as well on all parts of the IQ test as they did on the one or two parts that they seemed to do well on, the child would not be retarded. Unfortunately, it turns out that often cognitive or intellectual skills are difficult to assess, in large part because these are frequently very scattered. Put in another way, children with autism often do some things well such as solving puzzles but they may have tremendous difficulty with more language‐related tasks. The degree of discrepancy among different skill areas is very unusual in the typically developing population but very frequent in children with autism.
As time went on it became clear that overall many children with autism have an intellectual disability (IQ below 70). In the past this was true for the majority of cases, but fortunately with earlier diagnosis and more effective interventions, this number has gone down so that probably only a minority of cases now do so. However, the pattern of performance in autism is usually rather different from that seen in mental retardation without autism, often with highly discrepant scores in various parts of the IQ test, for example, strengths in nonverbal abilities but great weakness in verbal or more socially related tasks. Occasionally (maybe 10% of the time) children with autism have some unusual ability, such as drawing, playing music, memorizing things, or sometimes calculating days of the week for events in the past or future (calendar calculation). These abilities are usually isolated (the otherwise very wonderful version of autism in Rain Man is misleading in this respect). These individuals are usually referred to as autistic savants. Savant skills typically fall into a specific set of categories: calendar calculation, artistic ability, mathematical‐calculating skills, music, and visual‐spatial skills. Stephen Wiltshire, for example, is an extraordinarily productive artist who captures amazing architectural detail of a city after a single viewing (go to www.stephenwiltshire.co.uk). Sometimes savant skills diminish with age; for example, Nadia (Selfe, 1979) had truly amazing drawing abilities as a young child but lost these as she became older. However, one young man we know has had long‐standing abilities to do calendar calculations extending at least 10,000 years before and after the current date and has not lost these abilities as he aged (Thioux, Stark, Klaiman, & Schultz, 2006). Box 1.2 provides an example of a child with unusual drawing ability. Keep in mind that even when these abilities are present (at most in 10% of cases) they are often isolated areas of strength and should not lead teachers, parents, and care providers to overestimate other levels of ability!
BOX 1.2 AN EXAMPLE OF UNUSUAL DRAWING ABILITY IN A BOY WITH AUTISM
“Bim Gets Breakfast in the Love Kitchen” Drawn by a child with autism; Bim is the child's made‐up cartoon character.
Source: Reprinted with permission from Volkmar and Pauls (2003, p. 1134).
These isolated abilities are often noted in the presence of overall intellectual disability. During the 1970s and 1980s most children with autism exhibited intellectual disability; as we discuss in other chapters of this book, this is now much less true.
Autism and Parenting
Kanner's (1943) report also mentioned that cases often came from families in which a parent was remarkably successful; in the first 11 cases he described a parent was either in Who's Who of America or American Men and Women of Science. This led to the idea, in the 1950s that perhaps the parent's success had led them to somehow neglect the child so concepts such as “refrigerator mother” were invoked to account for autism. As you'll see in the rest of this chapter there is no evidence to support this and considerable evidence that shows that autism is a strongly genetically and brain‐based disorder. But this myth of poor parenting traumatized an entire generation of parents and led to inappropriate and ineffective treatments for the child. Fortunately as it became clear during the 1970s that autism was strongly genetic and brain‐based, and it also became clear that structured educational and behavioral interventions could help the child with autism to learn (National Research Council, 2001; Reichow, Doehring, Cicchetti, & Volkmar, 2011).
Other Conditions on the Autism Spectrum and Changes with DSM‐5
By the late 1970s a consensus on the validity of autism as a concept had emerged, and by 1980 it was included in the landmark third edition of the American Psychiatric Association's official diagnostic guidelines (a book called Diagnostic and Statistical Manual of Mental Disorders; DSM‐III (APA,1980). DSM‐III had to have a class of disorder to which autism belonged and the term pervasive developmental disorder (PDD) was chosen. In retrospect a term such as autism and related conditions or autism spectrum disorders might have been better. Over the next decade some revisions were made as research became available, and in 1994 the fourth edition of the book (DSM‐IV, APA, 1994) recognized a number of conditions in addition to autism within the broader PDD class. These concepts have their own history and an attempt was made to expand the range of conditions in DSM‐IV (and its companion international volume ICD‐10 [WHO, 1993]). For autism and related conditions the American DSM and international ICD‐10 were essentially the same as DSM‐IV, and even in the new DSM‐5 individuals with “well‐established” diagnoses under DSM‐IV are “grandfathered” in (APA, 2013), so DSM‐IV effectively remains in effect. The “new” conditions identified in the fourth edition of the DSM and in ICD‐10 are described in the next sections.
Asperger's Disorder
Hans Asperger, a medical student working at the University of Vienna during the Second World War, wrote a paper (1944) on boys who had marked social problems but good language (in some ways) (see Box 1.3). They also had all‐encompassing special interests (he described them as “little professors”) and he made the important point that the child's special interests actually interfered with other aspects of their learning (and often dominated family life). These boys also tended to have significant motor problems, and in several cases it appeared that other family members, particularly fathers, had similar kinds of problems. The special interests can focus on any of a host of topics—we've seen children with interests as diverse as dinosaurs and snakes, the stock market, spelling, the operas of Wagner, and time—to give just a few examples. Box 1.4 provides an example of such interests.
BOX 1.3 ASPERGER'S DISORDER (AS)
Hans Asperger, a medical student at the University of Vienna, wrote his medical school thesis on boys who couldn't form groups—he used the term autistic personality disorder in describing these boys.
Problem Areas
Marked social and motor problems
Unusual circumscribed interests (that interfered with learning)
Areas of Strength
Good language vocabulary and speech but issues with social language
Apparently good cognitive skills
The family history was often positive for similar problems in fathers. Over time several modifications were made as new cases were identified, for example, in girls, in lower IQ individuals, and in some individuals with language problems.
BOX 1.4 CIRCUMSCRIBED INTERESTS IN ASPERGER'S DISORDER
In contrast to unusual abilities, circumscribed interests are more typical of individuals with Asperger's syndrome. In his initial description of the condition Asperger (1944) mentioned several such interests (e.g., train schedules, dinosaurs, American gangsters) and noted that because of their intensity these interfered with other areas of learning for the child and had a negative impact on family life. Among the more cognitively able individuals on the autism spectrum such interests are common. Rather than being more mechanical than savant abilities these interests have to do with acquisition of knowledge and the intense fixation on a topic. The figure shows an example of one such interest, and although drawing is involved in the child's presentation of his interest, it is not itself extraordinary in contrast to his long‐standing and highly intense interest in time (Volkmar, Klin, Schultz, Rubin, & Bronen, 2000).
Drawing made by a boy with Asperger's disorder, illustrating his interest in time. His autobiographical statement made at the same time indicated what his drawing referred to:
My name is … I am an intelligent unsociable, but adaptable person would like to dispel any untrue rumors about me. I cannot fly. I cannot use telekinesis. My brain is not large enough to destroy the entire world when unfolded. I did not teach my long‐haired guinea pig, Chronos, to eat everything in sight. That is the nature of the long‐haired guinea pig.
Source: Reprinted with permission from Volkmar et al. (2000, p. 263).
The drawing illustrates the history of the universe from the moment of its creation (12:00 midnight) through geologic time, for example, the appearance of bacteria (6:30 a.m.). It illustrates the patient's profound interest (and knowledge) regarding this topic, which tended to be all‐encompassing, as well as his less‐developed fine motor abilities.
Asperger thought of the condition as something more like a personality trait rather than a developmental disorder. He speculated that the condition was not usually recognized until after about age 3. His original German term for the condition was autistic psychopathy (probably better translated as autistic personality disorder); thus he used the word autism (as had Kanner) but was not aware of Kanner's report in the United States the year before. Asperger, who lived for many years after describing this condition, saw many cases in his lifetime. Even at the end of his life, he felt that the condition was different from infantile autism. The condition began to receive attention with the publication of a large case series in 1980, although, over time, the concept of Asperger's came to be used in several different ways. This inconsistency has been a complication in the way the term is used. The category of Asperger's disorder was officially recognized in DSM‐IV but by DSM‐5 a decision was made to drop it. In the meantime, of course, the concept is frequently to refer to individuals who have what seem to be good verbal skills but who also have a serious social disability. It is interesting that before DSM‐IV appeared a series of terms had been proposed (from a range of disciplines) to account for similar patterns of social disability. These terms came from different disciplines, for example, from pediatric neurology, right hemisphere learning disability syndrome; from speech pathology, semantic‐pragmatic processing disorder; from psychiatry, schizoid personality disorder; and from psychology, a profile of termed nonverbal learning disability. The last term refers to a profile on psychological testing in which strengths early in life are in the verbal domain and weaknesses in the nonverbal one. This profile is associated with a range of conditions but does seem more commonly associated with Asperger's than autism. It has specific implications for treatment (e.g., emphasizing verbal approaches).
As a practical matter, children with AS have better verbal skills and we can sometimes use language‐based treatments, such as very structured and problem‐oriented psychotherapy and counseling. These therapies might not work with many typical autistic children. Poor motor skills in AS may also have important implications for vocational training. A comprehensive review of work on Asperger's is available (McPartland, Klin, & Volkmar, 2014).
Childhood Disintegrative Disorder (CDD)
Although it is fortunately rather rare, childhood disintegrative disorder, or CDD, is of interest for several reasons. It first was described almost 100 years ago by a specialist in special education, who noted the onset of what we would now describe as autism but only after a period of several years of normal development. The term disintegrative psychosis was used to refer to the condition but more recently the term CDD has been used. This condition clearly is quite rare, although it's also the case that many times children with the condition probably have not been adequately diagnosed or studied. Children with CDD develop normally for several years of life. Typically they talk on time, walk on time, acquire the capacity to speak in sentences, are normally socially related, and are toilet trained but, usually between the ages of 3 and 4 years the child experiences a marked and enduring regression in skills. Many behaviors that resemble those in autism develop, such as the motor mannerisms (stereotypies) and the profound lack of interest in other people typical of autism. One of the interesting questions for present research is whether children with autism who have a major regression in their development are exhibiting something like this condition (Volkmar, Koenig, & State, 2005).
Rett's Disorder
In 1966, Andreas Rett described a group of girls with an unusual history and clinical features. They were apparently normal at birth and developed normally for the first months of life. However, usually within the first year or so of life their head growth rate began to decrease. In addition, they started to lose the developmental skills they had acquired. As time went on they lost purposeful hand movements and various unusual symptoms began to develop. They seemed to lose interest in other people in the preschool years—which is why there was the potential to misdiagnose the girls as having autism. As they became somewhat older the developmental losses became more progressive and quite different from those in autism. Unusual hand‐washing or hand‐wringing stereotypies developed (see Figure 1.1).
FIGURE 1.1 Handwashing: Stereotyped Hand Movements in Rett's Disorder.
Source: Reprinted from Van Acker, Loncola, and Van Acker (2005, p. 127).
The girls developed other unusual respiratory symptoms, such as breath holding spells or air swallowing (aerophagia). Seizure disorders sometimes developed as well. Problems in walking and in posture were seen and, over time, scoliosis often developed. By adulthood the girls had become severely retarded young women. However, their course was different from that seen in autism. The degree of problems in breathing, in loss of hand movements and other motor difficulties, scoliosis, and so on suggested that this was a very distinct condition. And indeed the condition has now been related to a defect in a single gene (Rutter and Thapar, 2014).
Pervasive Developmental Disorder Not Otherwise Specified (Atypical Autism, the “Broader” Autism Phenotype)
Beginning with DSM‐III (1980) a group of individuals who had some features of autism but not the full condition was recognized. This turns out to be a relatively large group of individuals. Various terms have been used in describing these cases: atypical autism, pervasive developmental disorder not otherwise specified, the broader autism spectrum, and so forth. Given its very nature of being not quite autism but resembling the concept it is a bit complicated to think about. Over time, however, as we've become aware of the complex genetics of autism and the clinical manifestation of this group it is clear that such cases are relatively frequent and of considerable clinical and research interest (Ingersoll and Wainer, 2014; Rutter & Thapar, 2014). Indeed these cases outnumber the more “classically” autistic ones and likely account for much of the apparent increase in rates of autism and related conditions (Presmanes Hill, Zuckerman, & Fombonne, 2014). Practitioners should be aware that terms are often used rather loosely, and someone may tell you about a child with some oddities and eccentricities and equate this with autism.
Changes with DSM‐5
The most recent version, DSM‐5 (APA, 2013), has introduced a number of changes based on a review of the two decades of work that followed DSM‐IV. The rather awkward term pervasive developmental disorder that had been used for many years was dropped as the overall label for the category and replaced with autism spectrum disorder. This was a welcome change.
The new definition of autism spectrum disorder is simpler than that used in DSM‐IV with fewer criteria for the diagnosis but probably overfocuses on more “classic” autism, because a number of studies have now shown that several groups, including the more cognitively able adolescents and adults as well as infants, would “lose” their diagnosis in DSM‐5 (Smith, Reichow, & Volkmar, 2015). As a result of these concerns the DSM‐5 definition does allow cases with “well‐established” diagnoses under DSM‐IV to keep the diagnosis. DSM‐5 also includes a new category—social communication disorder—for individuals with problems primarily in the area of pragmatic language. The rationale for this new category was poorly made and it is clearly the case that this new term does not simply replace the older PDD‐NOS term.
Epidemiology of Autism and Related Conditions
Numerous epidemiological studies of autism have been conducted. Their interpretation is complicated given differences in case findings, diagnostic criteria used, and other factors. There has been much interest in whether autism is increasing, with public service messages in the media suggesting that autism is very common. However, much of these claims are based on school records or school‐assigned diagnosis for educational purposes, and it is well known that often a diagnosis of autism is desired in terms of getting more services (a problem referred to as diagnostic substitution). Furthermore children diagnosed by schools or inexperienced clinicians are more likely to outgrow and “lose” their diagnosis as time goes on (Blumberg, Zablotsky, Avila, Colpe, Pringle, & Kogan, 2016). A recent comprehensive review (Presmanes Hill, Zuckerman, & Fombonne, 2014) noted that the prevalence of autism (looking at the most recent studies) is about 1 in 152 children. The authors of this review did not find evidence supporting a major increase in the condition. Clearly the more stringent the criteria used the lower the rates noted, particularly if the data are based on direct examination rather than school report.
ASDs are clearly more common in males by three‐ to fivefold. In lower‐IQ groups this is much less pronounced but in the more intellectually able the male predominance increases. There is some suggestion that higher rates of disability (overall) in females may reflect an even stronger genetic risk (see Rutter & Thapar, 2014). Studies of social class and autism in the United States typically note lower prevalence rates in Black and Hispanic children, a difference not so consistently observed in other countries with more uniform approaches to screening and medical care.
What Causes Autism?
There was much confusion in the first decade or two after autism was first described relative to its causes. Speculation began in the 1950s to center on psychosocial factors. However, during the 1960s and 1970s evidence began to strongly accumulate to show that autism was a brain‐based and strongly genetic condition.
Neurobiological Aspects of Autism
It took several decades for it to become clear that autism was a strongly brain‐based disorder. In his original report Kanner (1943) emphasized that autism was congenital (i.e., present from birth if not before), but he also observed that the children in his sample were attractive (i.e., not dysmorphic) and that parents were remarkably successful. These observations, combined with considerable diagnostic confusion about childhood psychosis and a strong psychosocial approach generally used in understanding mental illness, led early workers to suggest psychotherapy to “remedy” the difficulties in parenting that presumably caused autism. As time went on, however, it became clear that there was strong evidence that autism was brain‐based given the frequent development of seizure disorder during childhood, a topic we discuss in more detail in subsequent chapters. Researchers began in earnest to look at the brain basis of the disorder.
A host of theories speculate about what brain region or regions may be involved, although over time models have become more sophisticated as we understand more about the complexity of the “social brain” (Pelphrey, Shultz, Hudac, & Vander Wyk, 2011; Volkmar, 2011). The significance and severity of the difficulties in processing social and other information across various areas of development are now taken to suggest that a rather diverse and widely distributed set of neural systems are implicated. At the same time it is clear that some aspects of neurocognitive functioning are spared and may even, in some cases, be highly superior, for example with savant skills sometimes present.
Scientists have conducted neuroimaging studies of the brain's structure and function. It appears that there are differences in the amygdala as well as in overall brain size. The latter appears to increase during toddlerhood (ages 2 to 4 years) with growth decelerating after that time so that by the end of adolescence brain size is only slightly larger. The nature of this difference remains the focus of research and speculation and theories have centered on abnormal connectivity in individuals with autism with more connections “locally” and fewer “long‐range” connections. One of the best‐replicated fMRI findings came from our group (Schultz et al., 2000) when we observed that a part of the ventral surface of the temporal lobe (the fusiform gyrus) was underactive during a face perception task. This area in typically developing individuals seems to have a high specificity for processing faces.
Overall the literature on neuroimaging suggests volume differences in specific brain regions with brain overgrowth the most replicated finding in one subgroup of cases and atypical structural and functional connectivity with some changes observed with age (Anagnostou & Taylor, 2011). These studies have been complemented by other approaches. For example, autopsy studies are relatively uncommon, but the available work has suggested differences in cortical structure particularly in those brain regions involved in social‐affective processing, specifically, the amygdala, hippocampus, septum, anterior cingulate, and mammillary bodies; these strongly interconnected regions comprise the limbic system. Newer work has used stem cell technology to replicate early brain development.
New methods have also been used to understand social information processing. For example, methods using eye tracking (infrared cameras are able to follow the exact point of regard as an individual watches social situation) note major differences in the way social scenes are viewed. The following figure shows the focus of interest for a person with autism and a typically developing adult viewing a short film clip from the movie classic Who's Afraid of Virginia Wolf? The person with autism who is cognitively high functioning tracks the mouth during the playing of this clip while the typically developing adult focuses on the eye region—(see Figure 1.2) the latter giving much more social affective information than the former.
FIGURE 1.2 Visual focus of a typically developing adult (top line) and a high‐functioning man with autism (bottom line) while viewing a short movie clip from the classic film Who's Afraid of Virginia Woolf? The typically developing individual focuses on the top portion of the face while observing the interaction; the individual with autism focuses on the mouth region (losing much of the social‐emotional information).
Source: Reprinted, with permission from Klin, Jones, Schultz, Volkmar, and Cohen (2002, p. 899).
As might be expected, attempts have been made to produce animal models of autism. Early work focused on lesion studies or exposure to various teratogens in utero. Interpretation of behavioral change was challenging. Furthermore developmental aspects of autism did not seem to be simply observed. However, with the discovery of single‐gene disorders such as Fragile X syndrome and Rett's syndrome, it is now possible to produce genetically modified animal models, and exciting work on basic genetic mechanisms is proceeding and may even lead to treatments.
Genetic Factors
A strong role of genetic factors was suggested in the first twin study of autism (Folstein & Rutter, 1977). Subsequent twin studies have confirmed these findings with estimates of heritability in the 60% to 90% range. This line of research has also suggested vulnerability in family members for a broader range of neuropsychiatric disorders including ADHD, anxiety, and learning and language problems. Subsequent work in the area has exploded in the past decade, particularly over the last few years as genetic methods and techniques have become much more sophisticated (and relatively cheaper!). We've moved from the 1980s, when we were looking at karyotypes, to now having the potential for genomic sequencing. Several critical findings have emerged over the last decade or so (Rutter & Thapar, 2014).
It is clear that genetic influences are very important in autism and that in a small group of cases (clearly less than 10%) associations with conditions such as Fragile X and tuberous sclerosis are identified. These associations are, however, important in terms of initial work; for example, screening for these conditions and their presence has important implications for genetic counseling of parents and family members. It has become apparent that there is a wide range of variability in the phenotypes of autism and that a number of genes and mechanisms create considerable genetic heterogeneity. More commonly it appears that the genes involved in autism are multiple and are involved as well in the potential expression of a broader range of conditions (the “broader phenotype”). Many of the genes identified have made sense in that they often seem to be involved in aspects of brain development or neural connectivity.
Obstetrical Risk and Environmental Factors in ASD
Given that the concordance rate in identical twins is less than 100% some potential importance might be attached to issues of obstetrical risk or environmental factors—perhaps interacting with genetic vulnerability (Lyall, Schmidt, & Hertz‐Picciotto, 2014). Research has addressed the relevance of possible environmental factors or specific toxins, but findings have not been conclusive in terms of proving strong environmental connections. Similarly a recent meta‐analysis of more than 40 studies looking at prenatal factors in autism evaluated 50 potential risk factors. Those factors observed included advanced parental age, medication use by the mother, early‐ or later‐born children, and gestational diabetes among others, although, of course, one of the difficulties here is that problems in the fetus might themselves increase obstetric risk. The study concluded that there was not sufficient evidence to implicate any one single prenatal factor in the pathogenesis of autism (Gardener, Spiegelman, & Buka, 2009). In a large study from Finland (including a broad diagnostic approach encompassing cases with subthreshold autism) low Apgars at birth were noted to be a risk (Polo‐Kantola, Lampi, Salomaki, Gissler, et al., 2014).
Services for Children with Autism
Initial treatment approaches in the 1950s and 1960s often focused on correcting a putative problem related to emotional deprivation. In the 1960s this began to change as research suggested a strong brain basis for the disorder (Rimland, 1964). During the 1970s other work appeared that showed that structured interventions with strong behavioral and special education components were more effective than unstructured psychotherapy (Bartak & Rutter, 1973). Most important, increased legislative interest in children with disabilities of all kinds resulted in the passage of the Education for All Handicapped Children Act in 1975. Before then parents often were told by schools that there was no way their child could be educated. Often parents were advised to place their child in a residential or large state institution where the child got little in the way of intervention.
Now schools in the United States are mandated to provide a free and appropriate public education (FAPE) for all individuals with disabilities. This is a radically different approach. As programs have become increasingly sophisticated schools have done an increasingly better job of providing education for children with autism (NRC, 2001). This means that schools now provide the major focus of intervention for this population. As a result it appears that more children are being identified in schools and receiving services and, importantly, it also seems that, as a group, children with autism are doing better as services are provided. A considerable, and expanding, body of work on evidence‐based treatments in autism is now available (Reichow, Doehring, Cicchetti & Volkmar, 2011).
Diagnostic and intervention practice are rather similar in the United States and most English‐speaking countries as well as in Northern Europe and Japan. In other parts of the world interest is increasing. Although autism is seen in all cultures there are only a few studies of cultural issues in autism (Freeth, Milne, Sheppard, & Ramachandran, 2014). Within the United States high socioeconomic status (SES) and high‐income families are more likely to seek a diagnosis and access services; conversely, families in poverty may be less aware of the condition and less likely to receive a diagnosis or access services (Palmer, Walker, Mandell, Bayles, & Miller, 2010). Sadly it is the case that few attempts have been made to examine differences in practice across states in the United States (Doehring, 2014).
Current Research
Research in autism has expanded tremendously over the last several decades as a result of increased federal and private support and the potential for investigators to understand more about what makes us uniquely human—the social brain. Work has proceeded using a variety of techniques that look at actual brain processes in a host of ways; for example, fMRI, EEG, and new methods such as eye tracking have been used to clarify some of the basic ways in which social engagement differs in individuals with ASD. Work on genetic mechanisms is now beginning to link to other areas, including work on brain development and connectivity.
Work has also proceeded on evaluating treatments with a view toward establishing treatments as being evidence based—something we will discuss in Chapter 12 when we talk about alternative treatments (see Box 1.5). Treatment studies are among the most difficulty to obtain federal funding for, unfortunately, for both psychosocial and pharmacological research. Furthermore the knowledge base among the various disciplines involved in the care of individuals with autism varies tremendously. And, unfortunately and notably, work on and with older adults is quite limited indeed. This relates, in part, to the enthusiasm over the potential for early diagnosis and treatment and the hope for better outcomes. But it does reflect the unfortunate tendency to overlook the very significant needs of adolescents and adults. A number of practice guidelines and books on evidence‐based treatments in autism are now available (McClure, 2014; Volkmar et al., 2014).
BOX 1.5 EVIDENCE‐BASED MEDICINE AND EVIDENCE‐BASED PRACTICE
Evidence‐based medicine approaches clinical decision making based on well‐conducted research. In development of recommendations such as practice guidelines, several levels of support are typically identified (procedures vary somewhat), typically giving the most credence to the strongest types of support (meta‐analyses of multiple studies, systematic reviews, and well‐conducted randomized controlled trials). Intermediate levels of support typically derive from case‐controlled studies, particularly if these are well conducted and free of potential confounds and bias. The weakest levels of evidence are case reports or, ultimately, clinical opinion. It is important to note that some procedures are in common use but have never, ever been subject to a randomized trial (e.g., jumping out of airplanes with and without parachutes!). For psychological research, issues may arise relative to the kinds of studies that can be designed and conducted, for example, in the move of a treatment program from specialized treatment (academic) centers to more real‐world settings. Official practice guidelines typically will attempt to summarize the strength of available evidence in making recommendations about potential treatments.
Evidence‐based practice has its origins in evidence‐based medicine but has expanded to a range of other fields, including psychology, speech‐communication, education, and others. It strives to use the best available research evidence on the selection of treatment in the context of the individual needs and treatment preferences.
Summary
This chapter has provided some background information on autism‐related concepts that now fall within the broad term of autism spectrum disorder. All these share, as a basic and essential feature, major problems in social interaction. These social learning disorders have important ramifications for the ways children learn from the social and nonsocial world. Autism and related conditions are strongly genetic and brain‐based. They can be associated with eventual intellectual deficiency but, and fortunately increasingly often, with earlier diagnosis and intervention, outcomes may well be substantially improved. Various medical conditions are associated with autism including, more frequently, seizure disorders (epilepsy) and, less commonly, specific genetic conditions, notably Fragile X and tuberous sclerosis.
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