Handbook of Autism and Pervasive Developmental Disorders: Diagnosis, Development, Neurobiology, and Behavior / Edition 3

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Now expanded to two volumes, this invaluable reference work provides a comprehensive review of all information presently available about these disorders, drawing on findings and clinical experience from a number of related disciplines such as psychiatry, psychology, neurobiology, pediatrics, etc. The Handbook covers descriptive and diagnostic characteristics, biological contributions, intervention techniques, legal and social issues. The Third Edition is updated to include the newest work in animal models, genetics, neuropsychological processes, screening and assessment methods.

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Product Details

  • ISBN-13: 9780471716969
  • Publisher: Wiley
  • Publication date: 4/15/2005
  • Edition description: REV
  • Edition number: 3
  • Pages: 792
  • Product dimensions: 7.28 (w) x 9.98 (h) x 1.68 (d)

Meet the Author

Fred R. Volkmar, MD is a child psychiatrist who trained at Stanford University and Yale. The Associate Editor of the Journal of Autism and Developmental Disorders and the Journal of Child Psychology and Psychiatry, he is a staff member of the Yale Child Study Center.

Rhea Paul, PhD holds a joint appointment at Southern Connecticut State University, where she is Professor of Communication Disorders, and the Yale Child Study Center, where she pursues research on autism and related disabilities.

Ami Klin, PhD is the Harris Associate Professor of Child Psychology and Psychiatry at the Yale Child Study Center. He obtained his PhD from the University of London.

Donald J. Cohen, MD was founder of the renowned clinical and scientific research programs for Tourette's Syndrome at the Yale Child Study Center. Well known for his clinical expertise and breadth of understanding, Dr. Cohen served as Director of the Child Study center since 1983.

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Read an Excerpt

Handbook of Autism and Pervasive Developmental Disorders, Diagnosis, Development, Neurobiology, and Behavior

By Fred R. Volkmar

John Wiley & Sons

ISBN: 0-471-71696-0

Chapter One

Issues in the Classification of Autism and Related Conditions


Clinicians and researchers have achieved consensus on the validity of autism as a diagnostic category and the many features central to its definition (Rutter, 1996). This has made possible the convergence of the two major diagnostic systems: the fourth edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-IV, 1994) and the 10th edition of the International Classification of Diseases (ICD-10; World Health Organization [WHO], 1992). Although some differences remain, these major diagnostic systems have become much more alike than different; this has facilitated the development of diagnostic assessments "keyed" to broadly accepted, internationally recognized guidelines (Rutter, Le Couteur, & Lord, 2003; see Chapter 28, this Handbook, Volume 2). It is somewhat surprising that, as greater consensus has been achieved on the definition of strictly defined autism, an interesting and helpful discussion on issues of "broader phenotype" or potential variants of autism has begun (Bailey, Palferman, Heavey, & Le Couteur, 1998; Dawson et al., 2002; Pickles, Starr, Kazak, Bolton, Papanikolaou, et al., 2000; Piven, Palmer, Jacobi,Childress, & Arndt, 1997; Volkmar, Lord, Bailey, Schultz, & Klin, 2004).

Today, autism is probably the complex psychiatric or developmental disorder with the best empirically based, cross-national diagnostic criteria. Data from a number of research groups from around the world have confirmed the usefulness of current diagnostic approaches, and, even more importantly, the availability of a shared clinical concept and language for differential diagnosis is a great asset for clear communication among clinicians, researchers, and advocates alike (Buitelaar, Van der Gaag, Klin, & Volkmar, 1999; Magnusson & Saemundsen, 2001; Sponheim, 1996; Sponheim & Skjeldal, 1998). In the future, the discovery of biological correlates, causes, and pathogenic pathways will, no doubt, change the ways in which autism is diagnosed and may well lead to new nosological approaches that, in turn, will facilitate further scientific progress (Rutter, 2000). Simultaneously, considerable progress has been made on understanding the broader range of difficulties included within the autism spectrum; that is, as our knowledge of autism has advanced, so has our understanding of a broader range of conditions with some similarities to it. Table 1.1 lists categories of pervasive developmental disorders (PDDs) as classified by ICD-10 and DSM-IV.

In addition to the international and cross-disciplinary agreement about diagnostic criteria for autism, a consensus has emerged about other issues that were once debated. Today, there is broad agreement that autism is a developmental disorder, that autism and associated disorders represent the behavioral manifestations of underlying dysfunctions in the functioning of the central nervous system, and that sustained educational and behavioral interventions are useful and constitute the core of treatment (National Research Council, 2001).

In this chapter, we summarize the development of current diagnostic concepts with a particular focus on autism and on the empirical basis for its current official definition. We address the rationale for inclusion of other nonautistic PDDs/autism spectrum disorders (ASDs), which are discussed in detail in other chapters in this section. We also note areas in which knowledge is lacking, such as the relationships of autism to other comorbid conditions and the ongoing efforts to provide alternative approaches to subtyping these conditions.


Although children with what we now would describe as autism had probably been described much earlier as so called wild or feral children (Candland, 1993; Simon, 1978) it was Leo Kanner who first elaborated what today would be termed the syndrome of childhood autism.

Kanner's Description-Early Controversies

Kanner's (1943) seminal clinical description of 11 children with "autistic disturbances of affective contact" has endured in many ways. His description of the children was grounded in data and theory of child development, particularly the work of Gesell, who demonstrated that normal infants exhibit marked interest in social interaction from early in life. Kanner suggested that early infantile autism was an inborn, constitutional disorder in which children were born lacking the typical motivation for social interaction and affective comments. Using the model of inborn errors of metabolism, Kanner felt that individuals with autism were born without the biological preconditions for psychologically metabolizing the social world. He used the word autism to convey this self-contained quality. The term was borrowed from Bleuler (1911/1950), who used autism to describe idiosyncratic, self-centered thinking. Autism for Kanner was intended to suggest that autistic children, too, live in their own world. Yet, the autism of individuals with autism is distinct from that of schizophrenia: It represents a failure of development, not a regression, and fantasy is impoverished if present at all. The sharing of the term increased early confusion about the relationship of the conditions.

In addition to the remarkable social failure of autistic individuals, Kanner observed other unusual features in the clinical histories of the children. Kanner described the profound disturbances in communication. In the original cohort, three of the children were mute. The language of the others was marked by echolalia and literalness, as well as a fascinating difficulty with acquiring the use of the first person, personal pronoun ("I"), and referral to self in the third person (" he" or by first name). Another intriguing feature was the children's unusual responses to the inanimate environment; for example, a child might be unresponsive to parents, yet overly sensitive to sounds or to small changes in daily routine.

While Kanner's brilliant clinical accounts of the unusual social isolation, resistance to change, and dysfunction in communication have stood the test of time, other aspects of the original report have been refined or refuted by further research.

A contentious issue early in the history of autism research concerned the role of parents in pathogenesis. Kanner observed that parents of the initial cases were often remarkably successful educationally or professionally; he also appreciated that there were major problems in the relations between these parents and their child. In his initial paper, he indicated that he believed autism to be congenital, but the issue of potential psychological factors in causing autism was taken up by a number of individuals; this issue plagued the history of the field for many years. From the 1960s, however, it has been recognized that parental behavior as such played no role in pathogenesis. Yet, the pain of parents having been blamed for a child's devastating disorder tended to linger in the memories of families, even those whose children were born long after the theory was dead; unfortunately, this notion still prevails in some countries.

Two types of information went against the psychogenic theories. It is now known that children with autism are found in families from all social classes if studies control for possible factors that might bias case ascertainment (e.g., Wing, 1980); while additional data on this topic are needed, more recent and rigorous research has failed to demonstrate associations with social class (see Chapter 2, this Handbook, this volume, for a review). A more central issue relevant to psychogenic etiology concerns the unusual patterns of interaction that children with autism and related conditions have with their parents (and other people as well). The interactional problems of autistic individuals clearly can be seen to arise from the side of the child and not the parents (Mundy, Sigman, Ungerer, & Sherman, 1986) although parents may be at risk for various problems (see Chapter 15, this Handbook, this volume). Probably most important, data support the role of dysfunction in basic brain systems in the pathogenesis of the disorder (see Volkmar et al., 2004). Today, the data appear to support the concept that biological factors, particularly genetic ones, convey a vulnerability to autism; as Rutter (1999) has noted, the issue of interaction between genetic and environmental vulnerabilities of all types remains an important one relevant to a host of disorders in addition to autism.

Kanner speculated that autism was not related to other medical conditions. Subsequent research has shown that various medical conditions can be associated with autism (see Chapter 2, this Handbook, this volume) and, most importantly, that approximately 25% of persons with autism develop a seizure disorder (Rutter, 1970; Volkmar & Nelson, 1990; see also Chapters 18 & 20, this Handbook, this volume). With the recognition of the prevalence of medical problems, some investigators proposed a distinction between "primary" and "secondary" autism depending on whether associated medical conditions, for example, congenital rubella (Chess, Fernandez, & Korn, 1978), could be demonstrated. As time went on, it became apparent that, in some basic sense, all cases were "organic," and designations such as primary and secondary autism are no longer generally made.

Kanner also misconstrued the relation between autism and intellectual disability. His first cases were attractive youngsters without unusual physical features, who performed well on some parts of IQ tests (particularly those that test rote memory and copying, such as block design, rather than comprehension of abstract, verbal concepts). Kanner felt that autistic children were not mentally retarded, and he, and many psychologists after him, invoked motivational factors to explain poor performance. Autistic individuals were called "functionally retarded." Decades of research have now shown that when developmentally appropriate tests are given in their entirety, full-scale intelligence and developmental scores (IQ and DQ scores) are in the mentally retarded range for the majority of individuals with autism (Rutter, Bailey, Bolton, & Le Couter, 1994) and maintain stability over time (Lockyer & Rutter, 1969, 1970). Kanner's impression of potentially normal intelligence, even in the face of apparent retardation, was based on what has proven to be a consistent finding on psychological testing. Children with autism often have unusually scattered abilities, with nonverbal skills often significantly advanced over more verbally mediated ones (see Chapter 29, this Handbook, Volume 2); at the same time, children with autism differ in their pattern of behavior and cognitive development from children with severe language disorders (Bartak, Rutter, & Cox, 1977). On the other hand, when the focus shifts from autism, strictly defined, to the broader autistic spectrum, a much broader range of IQ scores is observed (Bailey et al., 1998).

The severity of the autistic syndrome led some clinicians in the 1950s to speculate that autism was the earliest form of schizophrenia (Bender, 1946). Clinicians during the first decades of the study of autism tended to attribute complex mental phenomena such as hallucinations and delusions to children who were, and remained, entirely mute (Volkmar & Cohen, 1991a). In the 1970s, research findings began to show that these two conditions are quite disparate in terms of onset patterns, course, and family genetics (Kolvin, 1971; Rutter, 1972).

Other Diagnostic Concepts

In contrast to autism, the definition of autistic-like conditions remains in need of more clarification (Rutter, 1996; Szatmari, 2000; Szatmari, Volkmar, & Walther, 1995). Although the available research is less extensive than that on autism, several of these autistic-like conditions were well enough studied, broadly recognized, and clinically important enough to be included in DSM-IV and ICD-10. We anticipate that further studies will improve the definition of these conditions and that new disorders may well be delineated within the broad and heterogeneous class of PDD.

Diagnostic concepts with similarities to autism were proposed before and after Kanner's clinical research. Shortly after the turn of the century, Heller, a special educator in Vienna, described an unusual condition in which children appeared normal for a few years and then suffered a profound regression in their functioning and a derailment of future development (Heller, 1908). This condition was originally known as dementia infantilis or disintegrative psychosis; it now has official status in DSM-IV as childhood disintegrative disorder (see Chapter 3, this Handbook, this volume). Similarly, the year after Kanner's original paper, Hans Asperger, a young physician in Vienna, proposed the concept of autistic psychopathy or, as it is now known, Asperger's disorder (Asperger, 1944; see Chapter 4, this Handbook, this volume). Although Asperger apparently was not aware of Kanner's paper or his use of the word autism, Asperger used this same term in his description of the marked social problems in a group of boys he had worked with. Asperger's concept was not widely recognized for many years, but it has recently received much greater attention and is now included in both DSM-IV and ICD-10. Another clinician, Andreas Rett, observed an unusual developmental disorder in girls (Rett, 1966) characterized by a short period of normal development and then a multifaceted form of intellectual and motor deterioration. Rett's disorder is also now officially included in the PDD class (see Chapter 5, this Handbook, this volume).

The descriptions proposed by some other clinicians have not fared as well. For example, Mahler, a child psychoanalyst, proposed the concept of symbiotic psychosis (Mahler, 1952) for children who seemed to fail in the task of separating their psychological selves from the hypothesized early fusion with their mothers. This concept now has only historical interest, as does her view of a "normal autistic phase" of development. In contrast, Rank (1949), also working from the framework of psychoanalysis, suggested that there is a spectrum of dysfunctions in early development that affects children's social relations and their modulation of anxiety. Her detailed descriptions of atypical personality development are of continuing interest in relation to the large number of children with serious, early-onset disturbances in development who are not autistic. These ideas were developed by Provence in her studies of young children with atypical development (Provence & Dahl, 1987; see also Chapter 6, this Handbook, this volume).

In the first (1952) and second (1968) editions of the American Psychiatric Association's Diagnostic and Statistical Manuals only the term childhood schizophrenia was officially available to describe autistic children. Much of the early work on autism and related conditions is, therefore, difficult to interpret because it is unclear exactly what was being studied. As information on life course and family history became available (Kolvin, 1971; Rutter, 1970), it became clear that autism could not simply be considered an early form of schizophrenia, that most autistic individuals were retarded, that the final behavioral expression of the autistic syndrome was potentially the result of several factors, and that the disorder was not the result of deviant parent-child interaction (Cantwell, Baker, & Rutter, 1979; DeMyer, Hingtgen, & Jackson, 1981). These findings greatly influenced the inclusion of autism in the third edition of DSM (American Psychiatric Association, 1980), to which we return later.



Excerpted from Handbook of Autism and Pervasive Developmental Disorders, Diagnosis, Development, Neurobiology, and Behavior by Fred R. Volkmar Excerpted by permission.
All rights reserved. No part of this excerpt may be reproduced or reprinted without permission in writing from the publisher.
Excerpts are provided by Dial-A-Book Inc. solely for the personal use of visitors to this web site.

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Table of Contents



Chapter 1. Issues in the Classification of Autism and Related Conditions (Fred R. Volkmar and Ami Klin).

Chapter 2. Epidemiological Studies of Pervasive Developmental Disorders (Eric Fombonne).

Chapter 3. Childhood Disintegrative Disorder (Fred R. Volkmar, Kathy Koenig, and Matthew State).

Chapter 4. Asperger Syndrome (Ami Klin, James McPartland, and Fred R. Volkmar).

Chapter 5. Rett Syndrome: A Pervasive Developmental Disorder (Richard Van Acker, Jennifer A. Loncola, and Eryn Y. Van Acker).

Chapter 6. Pervasive Developmental Disorder Not Otherwise Specified (Kenneth E. Towbin).

Chapter 7. Outcomes in Autism Spectrum Disorders (Patricia Howlin).


Chapter 8. Autism in Infancy and Early Childhood (Katarzyna Chawarska and Fred R. Volkmar).

Chapter 9. The School-Age Child with an Autistic Spectrum Disorder (Katherine A. Loveland and Belgin Tunali-Kotoski).

Chapter 10. Adolescents and Adults with Autism (Victoria Shea and Gary B. Mesibov).

Chapter 11. Social Development in Autism (Alice S. Carter, Naomi Ornstein Davis, Ami Klin, and Fred R. Volkmar).

Chapter 12. Language and Communication in Autism (Helen Tager-Flusberg, Rhea Paul, and Catherine Lord).

Chapter 13. Neuropsychological Characteristics in Autism and Related Conditions (Katherine D. Tsatsanis).

Chapter 14. Imitation and Play in Autism (Sally J. Rogers, Ian Cook, and Adrienne Meryl).

Chapter 15. Autism and Emotion (Peter Hobson).


Chapter 16. Genetic Influences and Autism (Michael Rutter).

Chapter 17. Neurochemical Studies of Autism (George M. Anderson and Yoshihiko Hoshino).

Chapter 18. Neurologic Aspects of Autism (Nancy J. Minshew, John A. Sweeney, Margaret L. Bauman, and Sara Jane Webb).

Chapter 19. Functional Neuroimaging Studies of Autism Spectrum Disorders (Robert T. Schultz and Diana L. Robins).

Chapter 20. Medical Aspects of Autism (Pauline A. Filipek).


Chapter 21. Problems of Categorical Classification Systems (Lorna Wing).

Chapter 22. Executive Functions (Sally Ozonof f, Mikle South, and Sherri Provencal).

Chapter 23. Empathizing and Systemizing in Autism Spectrum Conditions (Simon Baron-Cohen, Sally Wheelwright, John Lawson, Richard Grif fin, Chris Ashwin, Jac Billington, and Bhismadev Chakrabarti).

Chapter 24. The Weak Central Coherence Account of Autism (Francesca Happé).

Chapter 25. Joint Attention and Neurodevelopmental Models of Autism (Peter Mundy and Courtney Burnette).

Chapter 26. The Enactive Mind—From Actions to Cognition: Lessons from Autism (Ami Klin, Warren Jones, Robert T. Schultz, and Fred R. Volkmar).

Author Index.

Subject Index.



Chapter 27. Screening for Autism in Young Children (Elaine E. Coonrod and Wendy L. Stone).

Chapter 28. Diagnostic Instruments in Autistic Spectrum Disorders (Catherine Lord and Christina Corsello).

Chapter 29. Clinical Evaluation in Autism Spectrum Disorders: Psychological Assessment within a Transdisciplinary Framework (Ami Klin, Celine Saulnier, Katherine Tsatsanis, and Fred R. Volkmar).

Chapter 30. Assessing Communication in Autism Spectrum Disorders (Rhea Paul).

Chapter 31. Behavioral Assessment of Individuals with Autism: A Functional Ecological Approach (Michael D. Powers).

Chapter 32. Sensory and Motor Features in Autism: Assessment and Intervention (Grace T. Baranek, L. Diane Parham, and James W. Bodfish).


Chapter 33. Curriculum and Classroom Structure (J. Gregory Olley).

Chapter 34. Behavioral Interventions to Promote Learning in Individuals with Autism (Laura Schreibman and Brooke Ingersoll).

Chapter 35. Behavioral Interventions (Joel D. Bregman, Dianne Zager, and John Gerdtz).

Chapter 36. Critical Issues in Enhancing Communication Abilities for Persons with Autism Spectrum Disorders (Barry M. Prizant and Amy M. Wetherby).

Chapter 37. Enhancing Early Language in Children with Autism Spectrum Disorders (Rhea Paul and Dean Sutherland).

Chapter 38. Addressing Social Communication Skills in Individuals with High-Functioning Autism and Asperger Syndrome: Critical Priorities in Educational Programming (Wendy D. Marans, Emily Rubin, and Amy Laurent).

Chapter 39. School-Based Programs (Joel R. Arick, David A. Krug, Ann Fullerton, Lauren Loos, and Ruth Falco).

Chapter 40. Helping Children with Autism Enter the Mainstream (Jan S. Handleman, Sandra L. Harris, and Megan P. Martins).

Chapter 41. Models of Educational Intervention for Students with Autism: Home, Center, and School-Based Programming (Sandra L. Harris, Jan S. Handleman, and Heather K. Jennett).

Chapter 42. Working with Families (Lee M. Marcus, Linda J. Kunce, and Eric Schopler).

Chapter 43. Employment: Options and Issues for Adolescents and Adults with Autism Spectrum Disorders (Peter F. Gerhardt and David L.. Holmes).

Chapter 44. Psychopharmacology (Lawrence Scahill and Andrés Martin).


Chapter 45. Preparation of Autism Specialists (Gail G. McGee and Michael J. Morrier).

Chapter 46. Educating Children with Autism: Current Legal Issues (Myrna R. Mandlawitz).

Chapter 47. Cross-Cultural Program Priorities and Reclassification of Outcome Research Methods (Eric Schopler).


Chapter 48. International Perspectives (Fred R. Volkmar).


Chapter 49. Community-Integrated Residential Services for Adults with Autism: A Working Model (Based on a Mother’s Odyssey) (Ruth Christ Sullivan).

Chapter 50. A Sibling’s Perspective on Autism (Jason B. Konidaris).

Chapter 51. A Personal Perspective of Autism (Temple Grandin).

Chapter 52. A Teacher’s Perspective: Adult Outcomes (Virginia Walker Sperry).

Chapter 53. Autism: Where We Have Been, Where We Are Going (Isabelle Rapin).

Author Index.

Subject Index.

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