Epidemiologic Reviews 24:137-153 (2002)
© 2002 by the Johns Hopkins Bloomberg School of Public Health
Heritable and Nonheritable Risk Factors for Autism Spectrum Disorders
From the Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD.
Received for publication June 17, 2002; accepted for publication January 15, 2003.
Abbreviations: ASD, autism spectrum disorder; DSM-IV, Diagnostic and Statistical Manual of Mental Disorders, Fourth Revision.
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INTRODUCTION |
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Autism spectrum disorders (ASDs) are developmental disabilities where language development is absent or delayed, rote or repetitive behaviors typically emerge, and nonverbal communication, imagination, and social interactions are profoundly hindered (1). The severity of impairment in each of these dimensions can be quite variable, as can individual cognitive functioning (2). However, even higher-functioning persons with ASD are confronted with significant lifelong challenges.
The first clinical descriptions of ASD were offered almost simultaneously by psychiatrist Leo Kanner and pediatrician Hans Asperger in the early 1940s. In his original paper, Kanner remarked on "the children’s aloneness from the beginning of life" (3, p. 250), implying that the constellation of behaviors that he observed was the result of pathology he believed to be present at birth. Despite this, because few autistic offspring had autistic parents, no obvious chromosomal anomalies were consistently found among autistic children, and the
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DIAGNOSIS AND CASE DEFINITION |
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PATHOPHYSIOLOGY |
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DESCRIPTIVE EPIDEMIOLOGY |
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Prevalence
ASD high-risk groups
ASD subtypes
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HERITABLE RISK FACTORS |
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Evidence for heritability
Twin studies. Familial aggregation studies. Overlap with known genetic disorders. Genetic models for ASD
Segregation analyses. Chromosomal abnormalities. Identification of ASD genes
Linkage studies. Candidate genes. Interpretations
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NONHERITABLE RISK FACTORS |
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Obstetric suboptimality
Specific prenatal factors
Maternal infections. Prenatal and intrapartum pharmaceutical agents. Preconception factors
Postnatal factors
Chemical exposures. Infection. Measles-mumps-rubella vaccine. Mercury and thimerosal-containing vaccines. Interpretations
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ALTERNATIVE EPIDEMIOLOGIC APPROACHES FOR UNDERSTANDING ASD ETIOLOGY |
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ACKNOWLEDGMENTS |
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