Nearly four times more males are diagnosed with autism spectrum disorder (ASD) than females. Consequently, most basic and preclinical studies on ASD have focused on males. A new study sheds light on how ASD manifests in the brains of females. Based on the findings, the researchers warn that conclusions drawn from studies conducted primarily in males should not be assumed to hold true for females.
Scientists use bioinformatic tools to demonstrate tandem repeats may contribute to ASD. The study demonstrates a significant genome-wide increase of tandem repeat mutations in children with ASD. The study shows TR mutations in affected children are larger, enriched in fetal brain regulatory regions, and predicted to be more evolutionarily deleterious compared to mutations observed in unaffected siblings.