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Princeton Researchers Map Four Genetic Subtypes of Autism

Distinct genetic profiles with unique developmental patterns signal the possibility of more precise clinical care.

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Illustration: Sarah Grillo/Axios
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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.