Researchers from Princeton University and the Simons Foundation have identified four different subtypes of autism, based on both clinical symptoms and genetic differences.
This is a major step forward in understanding the complex condition and could help improve diagnosis, treatment, and care tailored to individual needs.
The study used data from over 5,000 children in the SPARK autism study. Instead of looking at just one trait at a time, the scientists used over 230 traits for each child, including social behavior, repetitive actions, and developmental milestones.
They grouped the children using a “person-centered” approach, meaning they looked at combinations of traits for each child rather than studying each trait separately.
This helped them discover four clear subtypes of autism, each with its own genetic and developmental profile. These subtypes were published in the journal Nature Genetics and show that autism is not one single condition, but rather a mix of different biological pathways.
The four subtypes are:
1. Social and Behavioral Challenges: These individuals show core autism traits like social difficulties and repetitive behaviors but develop at a normal pace. They often also experience anxiety, depression, ADHD, or OCD. This group makes up 37% of the children.
2. Mixed ASD with Developmental Delay: These children are slower to reach key milestones like walking or talking but usually don’t show signs of anxiety or mood problems. This group includes about 19% of participants.
3. Moderate Challenges: This group shows autism-related behaviors to a lesser extent and usually develops on a normal timeline without additional mental health conditions. Around 34% of participants fall into this group.
4. Broadly Affected: The smallest group, at 10%, faces the most serious challenges, including developmental delays, communication difficulties, repetitive behavior, and mental health problems like anxiety and mood issues.
Each subtype also has unique genetic patterns. For example, children in the Broadly Affected group had more harmful mutations that were not inherited from their parents. In contrast, those in the Mixed ASD group had more rare inherited variants. This shows that even when two children seem to have similar traits, the biological reasons behind their autism could be very different.
The researchers also found that the timing of when genes become active in brain development varies across the subtypes. For some children, genetic changes seem to affect the brain before birth, while in others, like those in the Social and Behavioral Challenges group, the changes may occur later in childhood.
By identifying these subtypes, scientists can now study autism more precisely. This shift in research means that instead of looking for one explanation for autism, experts can focus on the distinct causes and needs of each group. This could help doctors give better care, predict future development, and create personalized treatment plans.
For families, knowing which subtype their child belongs to could provide clearer information about what to expect, how to support their child, and which treatments might work best.
The researchers believe this new approach could also be used to study other complex conditions in the future, helping scientists and doctors find better ways to understand and treat them.
If you care about autism, please read studies about food additives and ADHD, and natural fixes for ADHD.
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The study is published in Nature Genetics.
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