Researchers from Princeton University, the Simons Foundation, and affiliated institutions have identified four biologically and clinically distinct subtypes of autism spectrum disorder (ASD). Utilizing computational modeling, artificial intelligence, and a generative mixture modeling approach that integrates matched phenotypic and genetic data from a large cohort, the study reveals unique genetic programs underlying each subtype's phenotypic and clinical traits. The four subtypes are characterized by different blends of symptoms, genetic profiles, and developmental trajectories, including categories such as Social and Behavioral Challenges, Mixed ASD with Developmental Delay, Moderate Challenges, and Broadly Affected. This advancement marks a transformative step toward precision diagnosis and personalized care for individuals with autism, potentially enabling more targeted interventions based on subtype-specific biological and clinical features.
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