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Study Identifies Four Genetic Subtypes of Autism

A Nature Genetics study highlights gaps in current testing, pointing toward diagnostics matched to each subtype alongside novel treatment approaches.

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Illustration: Sarah Grillo/Axios
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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.