Background: Autism Spectrum Disorder (ASD) is characterized by differences in behavior, communication, and social interaction and has been linked to genetic and environmental risk factors. Studies haves suggested that congenital abnormalities such as cleft lips and palates—which begin to form early in pregnancy—are more common in children with ASD.

What’s New: On June 3, 2015, the Journal of Autism and Developmental Disorders published a study exploring the relationship between various congenital abnormalities and ASD in children with and without intellectual disabilities. The researchers examined the records of 17,695 Finnish children born between 1987 and 2000—4,441 with ASD and 934 with congenital abnormalities. They found that children with ASD were more likely to have congenital abnormalities of the eye, face, and neck, as well as the central nervous and musculoskeletal systems, development of which occurs during the first trimester. They also found that both the children with ASD and those with congenital abnormalities were more likely to have been born prematurely or at a low birth weight.

Why it’s important: This study suggests that—while ASD isn’t typically diagnosed until children are at least two years old—the underlying factors leading to the disorder may appear very early during gestation. Further research could illuminate the precise environmental, genetic, and epigenetic influences leading to ASD in the developing brain.

What are the Genetic Risk Factors for Autism?

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