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8h ago

New Autism Framework Defines Four Genetic and Behavioral Subtypes

Published in Nature Genetics, the study lays the groundwork for tailored autism diagnoses through upcoming subtype validation in diverse populations

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Children and instructors participate in a game prior to riding waves, as part of the Surftismo program, an alternative therapy for children with autism spectrum disorder diagnoses that uses surfing, in Chiltiupan, El Salvador August 14, 2022. REUTERS/Jose Cabezas
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Overview

  • Princeton University and Simons Foundation researchers analyzed genetic sequences and behavioral data from more than 5,000 children in the SPARK autism cohort to uncover distinct subtype patterns
  • The four categories—Social and Behavioral Challenges, Mixed ASD with Developmental Delay, Moderate Challenges and Broadly Affected—are each linked to unique genetic mutations and developmental trajectories
  • Children in the Social and Behavioral Challenges group (37 percent of participants) often reach developmental milestones on schedule but face co-occurring conditions such as ADHD, anxiety or OCD
  • Standard genetic testing currently explains only about 20 percent of autism cases, underscoring the need for the deeper genomic insights this framework provides
  • Researchers are now validating these subtypes in more diverse populations and working to integrate the classification into clinical practice for earlier diagnosis and personalized care