Understanding Autism From Basic Neuroscience to Treatment

Edited by
Steven O. Moldin, Ph.D.
University of Southern California
Los Angeles, California
John L.R. Rubenstein, M.D., Ph.D.
University of California
San Francisco, California

CONTENTS
The Spectrum of Autistic Disorders..........................................................................1
The Phenotype ...........................................................................................................3
Core Features......................................................................................................3
Social and Communication Deficits in ASD ................................................3
Repetitive and Restricted Behaviors and Interests........................................4
Sex Differences...................................................................................................5
Other Associated Features..................................................................................5
ASD and Cognitive Impairments ..................................................................5
Relationship to Sensory and Motor Impairments .........................................6
Relationship to Epilepsy................................................................................7
Macrocephaly in ASD ...................................................................................7
Comorbid Psychiatric Diagnoses ..................................................................8
Developmental Trajectories ................................................................................9
Prognoses for ASD...........................................................................................10
Relationship to Disorders with Known Etiology....................................................11
Neurogenetic Syndromes..................................................................................11
Diagnosis and Assessment.......................................................................................12
Standardized Diagnoses....................................................................................13
Summary and Conclusions......................................................................................14
Acknowledgments....................................................................................................

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Foreword
Autism spectrum disorders exact a serious toll on those affected, on their families,
and, as a result of behavioral problems and significant levels of disability, on society.
Despite that toll, autism has not historically received adequate research attention. The
lack of research reflected a mistaken belief that autism was very rare, and there was
a lack of reliable, broadly accepted diagnostic standards, and until recently, a lack of
scientific tools with which to make progress. As attested to by this volume, all this
has changed. While we still have far to go before we possess a deep understanding of
autism that translates into highly efficacious new treatments, research on autism is
moving at an increasingly rapid pace and yielding promising new results.
What factors have led to the exciting new progress in autism research that is
summarized in this text? An important contribution, without doubt, was the tireless
advocacy of the families of affected individuals, families who refused to accept the
message that there was no hope. Interest in autism was also spurred by the broad
recognition that it represented a spectrum of disorders, which in aggregate were more
tated by improved approaches to diagnosis. Progress in phenotyping and diagnosis
of many researchers to reach consensus on the assignment of individuals to the autism
spectrum and to different points along the way. All this could not have created the
stirrings of progress without the emergence of new scientific tools and approaches. Some,
like the explosion of new tools for genetics developed entirely independently of autism
research, others like social neuroscience — the investigation of the circuitry and neural
mechanisms that underlie human interaction — developed in part, as a result of the new
interest in autism. Social neuroscience itself depended on the development of increasingly
good tools for human neuroimaging and the broad advance made by cognitive
neuroscience in addressing the underpinnings of thought, emotion, and behavior.
It is hard to overstate both the potential significance and also the difficulty of a
provide tools for neuroscientists trying to understand the neural basis of autism, and
may provide clues to new treatments. Based on twin studies, we know that of all
risk factors, genes make the largest contribution to autism spectrum disorders. As
is well known, twin studies also reveal that genes are not fate — not all monozygotic
twin pairs with an affected member are concordant for an autism spectrum disorder.
Thus, developmental, stochastic, or environmental factors must play a role in converting
genetic risk into disease. Nonetheless, genes exert a powerful effect, more
powerful than for schizophrenia or bipolar disorder, for example. Despite the large
effect of genes, the search for genetic risk factors has proved extremely frustrating.
In recent years, it has been hypothesized that autism spectrum disorders —indeed,
all common neuropsychiatric phenotypes — are genetically complex. That is to say
© 2006 by Taylor & Francis Group, LLC
common than had been believed and more costly to society (Chapter 20). This new
(Chapter 1) required not only new scientific efforts, but also a willingness on the part
epidemiological information (Chapter 2) and indeed all of autism research were faciligenetic
analysis of the autism spectrum (Chapters 3 and 4). Gene discovery should