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American Journal of Epidemiology Advance Access originally published online on April 16, 2009
American Journal of Epidemiology 2009 169(11):1296-1303; doi:10.1093/aje/kwp059
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American Journal of Epidemiology © The Author 2009. Published by the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org.

ORIGINAL CONTRIBUTIONS

Birth Defects in Children With Autism Spectrum Disorders: A Population-based, Nested Case-Control Study

Somer Dawson, Emma J. Glasson, Glenys Dixon and Carol Bower

Correspondence to Prof. Carol Bower, Telethon Institute for Child Health Research, University of Western Australia, P.O. Box 855, West Perth, Western Australia 6872, Australia (e-mail: carolb{at}ichr.uwa.edu.au).

Received for publication November 3, 2008. Accepted for publication February 17, 2009.

The causes of autism spectrum disorders (ASDs) are unknown, although genetic and environmental influences have been implicated. Previous studies have suggested an association with birth defects, but most investigators have not addressed associations with specific diagnostic categories of ASD. In this study, the authors investigated the associations between birth defects and autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified. Using Western Australian population-based linked data, the authors compared all children with ASD born in Western Australia during 1980–1995 (n = 465) with their siblings (n = 481) and population controls (n = 1,313) in a nested case-control study. The prevalence of birth defects was significantly higher in ASD cases than in population controls; this difference remained significant after adjustment for confounding factors. Odds ratios for birth defects were similar for autism (odds ratio (OR) = 2.0, 95% confidence interval (CI): 1.3, 3.0) and pervasive developmental disorder not otherwise specified (OR = 2.2, 95% CI: 1.1, 4.3) but not for Asperger syndrome (OR = 0.5, 95% CI: 0.1, 1.9). Birth defects in case siblings were not significantly different from those in cases and population controls. The association between birth defects and ASD may be due to underlying genetic and/or environmental factors common to both ASD and birth defects, or birth defects may predispose a child to ASD.

Asperger syndrome; autistic disorder; congenital abnormalities

Abbreviations: ASD, autism spectrum disorders; CI, confidence interval; DSM, Diagnostic and Statistical Manual of Mental Disorders; ICD-10, International Classification of Diseases, Tenth Revision; OR, odds ratio; PDD-NOS, pervasive developmental disorder not otherwise specified


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