
21/07/2025
New Autism Study Confirms 4 Distinct Subtypes
Just published in Nature Genetics, a landmark study involving over 5,000 autistic children reveals that autism comprises four biologically distinct subtypes—each with unique symptom profiles, co-occurring challenges, and genetic activity.
1. Social & Behavioural Challenges
Marked difficulties with social interaction and repetitive behaviours, along with high rates of anxiety, ADHD, and OCD, but no developmental delays.
2. Developmental Delay Subtype
Significant delays in milestones such as walking and talking, with fewer behavioural or anxiety issues.
3. Moderate Presentation
Mild to moderate symptoms, no milestone delays, and relatively fewer co-occurring conditions.
4. Broadly Affected
Severe developmental delays, strong autism symptoms, and multiple co-occurring challenges like anxiety and depression.
Importantly, the study shows that different genes are active in different subtypes—and at distinct developmental stages. Some genes act before birth, shaping early brain development, while others influence behaviour and emotional regulation during childhood.
This is powerful validation of what many clinicians already observe: autism is not a one-size-fits-all diagnosis. Each child benefits from a tailored approach based on their genetic and developmental profile.
Full study:
Classes of autism are uncovered with a generative mixture modeling approach leveraging matched phenotypic and genetic data from a large cohort, revealing different genetic programs underlying their phenotypic and clinical traits.