Overview

• Researchers analyzed data from over 5,000 children in the Simons Foundation–funded SPARK cohort across 230 traits to define four genetically distinct autism subtypes.
• The subtypes—social and behavioral challenges (37%), moderate challenges (34%), mixed ASD with developmental delay (19%) and broadly affected (10%)—are each linked to specific genetic mutation patterns.
• Broadly affected individuals showed the highest rate of de novo mutations while the mixed ASD with developmental delay group carried more rare inherited variants.
• The social and behavioral challenges subtype faces elevated risks of ADHD, anxiety, depression and OCD compared with lower psychiatric comorbidity in the moderate and mixed delay groups.
• Researchers say the subtype framework could drive earlier, more accurate diagnoses and open the door to tailored therapeutic approaches based on biological profiling.