Disordered cholesterol metabolism in autism spectrum disorders sterol and genetic analyses

Autism spectrum disorders (ASDs) have risen sharply in prevalence, yet their causes often remain unknown. Reports of ASDs in individuals with Smith‑Lemli‑Opitz syndrome (SLOS), a disorder of impaired cholesterol synthesis, suggest a role for cholesterol metabolism in ASD biology. Because cholesterol is essential for brain development, this study uses SLOS as a model to assess cholesterol’s involvement in ASDs. We will measure cholesterol, its precursor 7‑dehydrocholesterol, the brain‑derived metabolite 24S‑hydroxycholesterol, and DHCR7 mutations in children with and without ASDs to test whether cholesterol metabolism is disrupted in ASD.