What Is the Yield of Genetic Testing in Toddlers with Autism?

Genetic testing is recommended after a child is diagnosed with autism spectrum disorder (ASD), but most do not get tested. Barriers to testing include variable insurance reimbursement and parents not knowing whether the results will yield helpful recommendations.

Researchers performed a retrospective chart review of 500 toddlers aged 18 to 36 months diagnosed with ASD by team evaluation at a large children's hospital between 2013 and 2016. Genetic testing (microarray and fragile X) was recommended for all children and completed in 299 (60%). Children who underwent genetic testing were more likely to have dysmorphic features, be nonverbal, and have lower motor, cognitive, and language developmental scores. Of children who completed testing, 6…