Overview

• A Princeton University–led team analyzed more than 5,000 children and over 230 traits in the SPARK cohort to define four data-driven autism subtypes.
• The four subtypes—Social and Behavioral Challenges; Mixed ASD with Developmental Delay; Moderate Challenges; and Broadly Affected—align with distinct genetic mutations and developmental pathways.
• Distinct genetic profiles emerge across subtypes, with the Broadly Affected group carrying the highest rate of de novo mutations and the Mixed ASD with Developmental Delay subtype enriched for rare inherited variants.
• Current genetic testing explains only about 20% of autism cases, highlighting the potential of subtype-specific approaches to improve diagnostic yield.
• Researchers are now translating the subtype framework into clinical diagnostic tools and tailored intervention strategies to enable earlier and more accurate care for autistic individuals.