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

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 1⁄4 465) with their siblings (n 1⁄4 481) and population controls (n 1⁄4 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) 1⁄4 2.0, 95% confidence interval (CI): 1.3, 3.0) and pervasive developmental disorder not otherwise specified (OR 1⁄4 2.2, 95% CI: 1.1, 4.3) but not for Asperger syndrome (OR 1⁄4 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.