26/07/2025
Autism isn't just one condition.
A groundbreaking study just identified four distinct types of autism.
In a major breakthrough, researchers from Princeton University and the Simons Foundation have identified four biologically and clinically distinct subtypes of autism.
Drawing from data on more than 5,000 children in the SPARK autism cohort, the team used a data-driven, person-centered model that grouped individuals by shared developmental, behavioral, and medical traits.
Each subtype—Social and Behavioral Challenges, Mixed ASD with Developmental Delay, Moderate Challenges, and Broadly Affected—revealed its own clinical profile and genetic signature, reshaping the understanding of autism’s complexity.
The findings mark a paradigm shift in autism research, showing that what’s been called a single diagnosis may actually encompass several unique biological conditions. Importantly, the study found different timelines for how genetic disruptions affect brain development—some emerging only later in childhood. This new framework allows for more targeted developmental monitoring, personalized care, and refined genetic research, opening the door to precision medicine in neurodevelopmental disorders and beyond.
Reference: “Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs” by Aviya Litman, Natalie Sauerwald, LeeAnne Green Snyder, Jennifer Foss-Feig, Christopher Y. Park, Yun Hao, Ilan Dinstein, Chandra L. Theesfeld and Olga G. Troyanskaya, 9 July 2025, Nature Genetics.
