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Genetic Mapping Reveals Four Distinct Autism Subtypes

Researchers say the four genetic subtypes offer a roadmap for earlier, more precise diagnoses, targeted treatments.

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Overview

  • Princeton researchers analyzed data from over 5,000 children in the SPARK cohort, assessing more than 230 traits to define four autism subtypes.
  • The subtypes are social and behavioral challenges, mixed ASD with developmental delay, moderate challenges and broadly affected, each aligning with unique genetic mutations and biological processes.
  • Broadly affected children exhibited the highest proportion of de novo mutations, while those with mixed ASD and developmental delay had increased rare inherited variants.
  • The social and behavioral challenges subtype accounts for 37% of cases and shows elevated risks of comorbid ADHD, anxiety, depression and OCD.
  • Researchers anticipate the framework will spur subtype-specific diagnostic tools and personalized interventions as federal health officials probe environmental factors ahead of September findings.