Autism

The Science of Mental Health

Steven Hyman

• Publisher: Routledge
• Year: 2013
• eBook ISBN: 9781136800801
• Topic: Psychology
• Subtopic: History & Theory in Psychology
• Index: Psychology

First published in 2001. This is Volume 2 in a series on the science of mental health and focuses on Autism. It begins with an overview presentation of a case and a recent consensus description of diagnostic instruments for autistic-spectrum disorders. This is followed by recent epidemiologic data. Epidemiology has an enhanced prominence in studies of autism because there is an unresolved controversy about the incidence of new cases of autism. In some surveys the incidence of autism appears to be increasing, and the controversy is over whether this is a true observation or whether greater diagnostic awareness is leading to the apparent increase. This volume attempt to resolve the conflicting data as if autism is indeed on the rise, there must be a new, significant environmental risk factor, which has to be identified with a view to prevention.

The Screening and Diagnosis of Autistic Spectrum Disorders¹

Pauline A. Filipek,^2,17 Pasquale J. Accardo,³ Grace T. Baranek,⁴ Edwin H. Cook, Jr.,⁵ Géraldine Dawson,⁶ Barry Gordon,⁷ Judith S. Gravel,⁸ Chris P. Johnson,⁹ Ronald J. Kallen,⁵ Susan E. Levy,¹⁰ Nancy J. Minshew,¹¹ Barry M. Prizant,¹² Isabelle Rapin,⁸ Sally J. Rogers,¹³ Wendy L. Stone,¹⁴ Stuart Teplin,⁴ Roberto F. Tuchman,¹⁵ and Fred R. Volkmar¹⁶

The Child Neurology Society and American Academy of Neurology recently proposed to formulate Practice Parameters for the Diagnosis and Evaluation of Autism for their memberships. This endeavor was expanded to include representatives from nine professional organizations and four parent organizations, with liaisons from the National Institutes of Health. This document was written by this multidisciplinary Consensus Panel after systematic analysis of over 2,500 relevant scientific articles in the literature. The Panel concluded that appropriate diagnosis of autism requires a dual-level approach: (a) routine developmental surveillance, and (b) diagnosis and evaluation of autism. Specific detailed recommendations for each level have been established in this document, which are intended to improve the rate of early suspicion and diagnosis of, and therefore early intervention for, autism.

KEY WORDS: Practice parameters diagnosis and evaluation of autism; dual-level approach.

INTRODUCTION

The synonymous terms Autistic Spectrum Disorders and Pervasive Developmental Disorders refer to a wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors (American Psychiatric Association [APA], 1994). Many terms have been used over the years to refer to these disorders, (e.g., infantile autism, pervasive developmental disorder- residual type, childhood schizophrenia, and autistic psychoses). Although autism was first described over 50 years ago by Kanner (1943), our improved understanding of this complex disorder has emerged over the past two decades, and, despite the recent intense focus on autism, it continues to be an art and science in rapid evolution.

The terms autism, autistic, and autistic spectrum disorders are used interchangeably throughout this paper and refer to the broader umbrella of pervasive developmental disorders (PDD), whereas the specific term Autistic Disorder is used in reference to the more restricted criteria as defined by the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV; APA, 1994). The complexity and wide variability of symptoms within the autistic spectrum point to multiple etiologies which are currently grouped together under this diagnostic umbrella because of the similar core behavioral symptomatology.

The autistic spectrum disorders are not rare disorders, but instead are more prevalent in the pediatric population than cancer, diabetes, spina bifida, and Down syndrome. The earliest epidemiology studies noted a prevalence of Infantile Autism of 4–5 per 10,000 which is approximately 1 in every 2,000 people (Lotter, 1966). With the broader clinical phenotype and improved clinical recognition, the prevalence estimates have increased to 10–20 per 10,000, or one in every 500 to 1,000 people (Bryson, 1996; Bryson, Clark, & Smith, 1988a; Ehlers & Gillberg, 1993; Gillberg, Steffenburg, & Schaumann, 1991; Ishii & Takahasi, 1983; Sugiyama & Abe, 1989; Wing & Gould, 1979). Recent statistical analyses by the Commonwealth of Massachusetts Department of Public Health indicate a prevalence rate in the Zero-to-Three Early Intervention Program of 1 in 500 children (Tracey Osbahr, Massachusetts DPH, personal communication, March 1999). These higher prevalence rates imply that there are between 60,000 and 115,000 children under 15 years of age in the United States who meet diagnostic criteria for autism (Rapin, 1997). Most recently, Baird et al., (1999) found a prevalence rate of 30.8 cases per 10,000 of Autistic Disorder (1 in 333 children), with 27.1 additional cases per 10,000 for the autistic spectrum disorders. These prevalence rates are significantly higher than those noted in previous reports and require reconfimation in a future study. However, the notion of these markedly increasing prevalence rates further affirms the need for improved early screening and diagnosis.

The overall ratio of males to females with autism has traditionally been reported at approximately 3:1 to 4:1 (Lotter, 1966; Wing & Gould, 1979). However, the ratio seems to vary with IQ, ranging from 2:1 with severe dysfunction to more than 4:1 in those with average IQ (Bryson, 1997; Ehlers & Gillberg, 1993; Wing & Gould, 1979). Some feel that fewer females with normal IQ are diagnosed with autism because they may be more socially adept than males with similar IQ (McLennan, Lord, & Schopler, 1993; Volkmar, Szatmari, & Sparrow, 1993b). Every health care or educational agency serving young children can expect to see children with autism. Although symptoms of autism may be present in the first year of life in children who are diagnosed later, and symptoms are virtually always present before the age of 3 years, autism is often not diagnosed until 2 to 3 years after symptoms appear. Individuals with autism also often remain undiagnosed or inaccurately diagnosed. Many clinicians hesitate to discuss the possibility of a diagnosis of autism with parents of young children even when some symptoms are present, due to concerns about family distress, the possible adverse effects of labeling a child, the possibility of being incorrect, or the hope that the symptoms will reverse over time. However, it is believed that the positive outcomes of accurate diagnosis far outweigh the negative effects, and families universally express the desire to be informed as early as possible (Marcus & Stone, 1993).

In actuality, the advantages of early diagnosis of autism are many and include earlier educational planning and treatment, provision for family supports and education, reduction of family stress and anguish, and delivery of appropriate medical care to the child (Cox et al., 1999). Screening activities are crucial to early diagnosis. The purpose of screening is to identify children at risk for autism as soon as possible so that they can be rapidly referred for full diagnostic assessment and needed interventions. The press for early identification comes from evidence gathered over the past 10 years that intensive early intervention in optimal educational settings results in improved outcomes in most young children with autism, including speech in 75% or more and significant increases in rates of developmental progress and intellectual performance (Dawson & Osterling, 1997; Rogers, 1996, 1998). However, these kinds of outcomes have been documented only for children who receive 2 years or more of intensive intervention services during the preschool years (Anderson, Avery, Dipietro, Edwards, & Christian, 1987; Anderson, Campbell, & Cannon, 1994; Fenske, Zalenski, Krantz, & McClannahan, 1985; Hoyson, Jamieson, & Strain, 1984; Lovaas, 1987; McEachin, Smith, & Lovaas, 1993; Ozonoff & Cathcart, 1998). Thus, early screening and early identification are crucial for improving outcomes of children with autism (Hoyson et al., 1984; McEachin et al., 1993; Rogers, 1996, 1998, in press; Rogers & Lewis, 1989; Sheinkopf & Siegel, 1998).

Howlin and Moore (1997) described the diagnostic experiences of almost 1,300 families with children with autism from the United Kingdom. The average age at diagnosis in this study was not until 6 years (while in the U.S. the average is 3 to 4 years of age), despite the fact that most if not all parents of children with autism had a sense that something was wrong by 18 months of age on average and usually first sought medical assistance by 2 years of age. The U.K. parents reported that despite concerns in at least three different developmental areas, fewer than 10% were given a diagnosis at initial presentation. About 90% were referred to another professional (at a mean age of 40 months). Twenty-five percent were nonetheless told “not to worry.” In the remaining 10%, over half were told to return if their worries persisted, and the rest were told that their child “would grow out of it.” Of those families referred to a second professional, only 40% were given a formal diagnosis and 25% were referred to yet a third or fourth professional. Almost 25% of the families were either reassured by the second professional and told not to worry, or their concern was acknowledged but no further action was taken. Almost 20% reported that they either had to exert considerable pressure to obtain the referrals or pay privately. Over 30% of parents referred to subsequent professionals reported that no help was offered (e.g., with education, therapy, or referrals to parent support groups), and only about 10% reported that a professional explained their child’s problems. Almost half of the families reported that the school system and other parents were the major source of assistance over time, rather than the medical health care community.

Howlin and Moore (1997) concluded that (a) early parental concerns about a child’s development should be taken more seriously by both primary care and specialist professionals, with speedy referrals to appropriate facilities, (b) labels such as “autistic tendencies” or “features” should be avoided if one is unable to give a specific diagnosis of autism, and that (c) diagnosis in itself may be a critical step but will not improve prognosis unless combined with practical help and support to assist parents in obtaining treatment for the child, in order to develop skills and strategies applicable throughout the child’s life.

DESCRIPTION OF THE ANALYTICAL PROCESS

Selection of Consensus Panel

Filipek was named by the American Academy of Neurology to chair a committee to determine practice parameters for screening and diagnosis of autism. Nominations were then sought from the American Academy of Audiology, American Academy of Child and Adolescent Psychiatry, American Academy of Family Physicians, American Academy of Neurology, American Academy of Pediatrics, American Occupational Therapy Association, American Psychological Association, American Psychological Society, American Speech-Language Hearing Association, Child Neurology Society, Society for Developmental and Behavioral Pediatrics, and the Society for Developmental Pediatrics for representative(s) from each organization with the requisite expertise in the screening and diagnosis of autism, whether by clinical research or clinical practice.

Final representatives include Judith S. Gravel (American Academy of Audiology); Edwin H. Cook Jr. and Fred R. Volkmar (American Academy of Child and Adolescent Psychiatry); Isabelle Rapin and Barry Gordon (American Academy of Neurology); Stuart Teplin, Ronald J. Kallen, and Chris Plauche Johnson (American Academy of Pediatrics); Grace T. Baranek (American Occupational Therapy Association); Sally J. Rogers and Wendy L. Stone (American Psychological Association); Geraldine Dawson (American Psychological Society); Barry M. Prizant (American Speech-Language Hearing Association); Nancy J. Minshew and Roberto F. Tuchman (Child Neurology Society); Susan E. Levy (Society for Developmental and Behavioral Pediatrics); and Pasquale J. Accardo (Society for Developmental Pediatrics). Representatives were named from the following associations: Barbara Cutler and Susan Goodman (Autism National Committee), Cheryl Trepagnier (Autism Society of America), Daniel H. Geschwind (Cure Autism Now), and Charles T. Gordon (National Alliance for Autism Research). The National Institutes of Health also named liaisons to serve on this committee, including Marie Bristol-Power (National Institute of Child Health and Human Development), Judith Cooper (National Institute of Deafness and Communication Disorders), Judith Rumsey (National Institute of Mental Health), and Giovanna Spinella (National Institute of Neurological Disorders and Stroke).

Consensus was reached by group discussion in all cases, either including the entire panel, or within subgroups by specialities.

Literature Review

Comprehensive computerized literature searches of Medline (National Library of Medicine) and PsychlNFO (American Psychological Association) in all languages using the terms “(autistic OR autism OR pervasive) NOT treatment” produced over 4,000 documents. The focus was on literature published since 1990 that reported scientific research, but older sources and less stringent studies were included when relevant. A bibliography of over 2,750 references was developed for this review; article abstracts were initially reviewed, followed by the relevant articles in entirety. The review process was expedited by the many review papers and meta-analyses developed for DSM-IV (APA, 1994), the research overview resulting from the National Institutes of Health State of the Science Conference on Autism in 1995 (see Bristol et al., 1996, and accompanying articles) and current review articles, book chapters and books (Bailey, Phillips, & Rutter, 1996; Bauer, 1995a, 1995b; D.J. Cohen & Volkmar, 1997; Filipek, 1999; Minshew, 1996a; Minshew, Sweeney, & Bauman, 1997; Rapin, 1997; Rutter, 1996).

HISTORICAL PERSPECTIVE

Autism from 1943 to 1980

Kanner(1943) first described a syndrome of “autistic disturbances” with case histories of 11 children who presented between the ages of 2 and 8 y...

Table of contents

• Cover
• Half Title
• Title Page
• Copyright Page
• Contents
• Introduction
• An 8-Year-Old Boy with Autism
• The Screening and Diagnosis of Autistic Spectrum Disorders
• Epidemiology of Autism: Prevalence, Associated Characteristics, and Implications for Research and Service Delivery
• The Epidemiology of Autism: A Review
• Autistic and Dysphasic Children, II Epilepsy
• Autism as a Strongly Genetic Disorder: Evidence from a British Twin Study
• Genetics of Autism: Characteristics of Affected and Unaffected Children from 37 Multiplex Families
• Evidence Supporting WNT2 as an Autism Susceptibility Gene
• The Neuroanatomy of Autism: A Voxel-Based Whole Brain Analysis of Structural Scans
• Abnormal Processing of Social Information from Faces in Autism
• The Human Amygdala in Social Judgment
• A Clinicopathological Study of Autism
• Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives
• Hypoplasia of Cerebellar Vermal Lobules VI and VII in Autism
• “Theory of Mind” in the Brain: Evidence from a PET Scan Study of Asperger Syndrome
• Neuropathology of Infantile Autism
• Autism Spectrum Disorders
• Frontal Lobe Contributions to Theory of Mind
• A Double-Blind, Placebo-Controlled Study of Risperidone in Adults with Autistic Disorder and Other Pervasive Developmental Disorders
• Long-Term Outcome for Children with Autism Who Received Early Intensive Behavioral Treatment
• Empirically Supported Comprehensive Treatment of Young Children with Autism
• Acknowledgments