In a significant step towards understanding the complexities of autism, researchers from Princeton University and the Simons Foundation have identified four clinically and biologically distinct subtypes of the condition.
Funded by the Simons Foundation and published in Nature Genetics, the study used a computational model to analyze data from over 5,000 children in the SPARK autism cohort study. Instead of looking for single genetic links, the researchers took a “person-centered” approach, considering over 230 traits per individual to find clinically relevant groupings.
“Understanding the genetics of autism is essential for revealing the biological mechanisms that contribute to the condition, enabling earlier and more accurate diagnosis, and guiding personalized care,” senior study author Olga Troyanskaya, said.
Troyanskaya is the director of Princeton Precision Health, the Maduraperuma/Khot Professor of Computer Science and the Lewis-Sigler Institute for Integrative Genomics at Princeton, and deputy director for genomics at the Center for Computational Biology of the Simons Foundation’s Flatiron Institute.
This understanding of the underlying biology could eventually guide the development of personalized care plans tailored to the specific needs of individuals within each subtype.
The study defined the four subtypes based on distinct developmental, behavioral, and genetic profiles:
- Social and Behavioral Challenges: This group, making up about 37% of participants, displays core autism traits like social and behavioral difficulties but meets developmental milestones on a typical schedule. They often have co-occurring conditions such as ADHD or anxiety.
- Mixed ASD with Developmental Delay: This group, about 19% of the study, experiences significant delays in milestones like walking and talking but typically does not have co-occurring psychiatric conditions.
- Moderate Challenges: Comprising roughly 34% of participants, this group shows core autism-related behaviors, but less intensely than the other groups, and reaches developmental milestones without significant delays. They also tend to not have co-occurring psychiatric conditions.
- Broadly Affected: This is the smallest group at around 10%, facing the most severe and wide-ranging challenges, including developmental delays, social and communication difficulties, and co-occurring psychiatric conditions.
