A Gene-Environment Interaction Linked with Autism Severity

Martin T. Stein, MD, Lauren Gist, MD, MPH reviewing Mazina V et al. J Dev Behav Pediatr 2015 Feb/Mar.

In children with ASD, genetic predisposition modified the interaction between prenatal maternal infection and severity of certain behaviors.

Epidemiologic studies suggest that activation of the maternal immune system in response to infection during pregnancy increases the risk for autism spectrum disorder (ASD). However, in most pregnancies a gestational infection is not associated with autism. Could a child's genetic predisposition to ASD play a role in this association?

Researchers evaluated the interactive effect of ASD-associated copy number variants (CNVs), determined by array comparative genomic hybridization, and self-reported infection or fever during pregnancy on autism severity in 1971 children with ASD (age range, 4–18 years). The diagnosis of ASD was established with a standardized test and diagnostic interview.

Children with ASD-associated CNVs and a history of maternal infection had increased rates of social impairments and repetitive or restricted behaviors suggesting increased severity of autism. An interaction between CNVs and prenatal infections was not found for outcomes of cognitive and adaptive functions of children with ASD.

Citation(s):

Mazina V et al. Epigenetics of autism-related impairment: Copy number variation and maternal infection. J Dev Behav Pediatr 2015 Feb/Mar; 36:61.