Cohort-guided insights into gene-environment interactions in autism spectrum disorders

Abstract

Prospective birth cohorts offer unprecedented opportunities to investigate the pathogenesis of complex disorders such as autism, in which gene-environment interactions must be appreciated in a temporal context. This Perspective article considers the history of autism research, including missteps that reflected an incomplete understanding of the epidemiology of autistic spectrum disorders, the effects of advocacy and philanthropy on the trajectory of scientific inquiry, and the current and future roles of prospective birth cohort research in illuminating the pathology of these and other complex disorders wherein exposures during gestation might not manifest until later in life.

Fig. 1. Timeline of contributions to autism research.

Although initially characterized as psychosis^–, from the 1970s onwards autism was reframed as a developmental disorder with a heritable component^,–. Various exposures were subsequently identified as contributing to the risk of autism spectrum disorder, the understanding of which continues to evolve^,,,,,,–. Special projects initiated and supported by The National Alliance for Autism Research and Cure Autism Now include the Autism Tissue Program brain bank, the Autism Genetic Resource Exchange and the High-Risk Baby Siblings Consortium.