Overview

• Researchers analyzed genetic and trait data from over 5,000 children in the Simons Foundation–funded SPARK cohort to classify autism into four subtypes.
• The subtypes—social and behavioral challenges, mixed ASD with developmental delay, moderate challenges and broadly affected—show distinct mutation patterns and divergent biological processes.
• The broadly affected group exhibited the highest rate of de novo mutations, whereas the mixed ASD with developmental delay group carried more rare inherited variants.
• The findings reveal that standard genetic tests account for only about 20% of autism cases and overlook subtype-specific variants.
• Investigators are now focused on developing subtype-targeted diagnostic tools and exploring the unique biological pathways of each group.