Major New Study Identifies Four Core Subtypes of Autism

A major study published in Nature Genetics on 9 July 2025, involving over 5,300 autistic children aged 4–18 (and nearly 2,000 of their non‑autistic siblings), has identified four biologically distinct subtypes of autism. Researchers assessed around 240 traits per child — including social skills, communication, repetitive behaviours, development, co‑occurring mental health conditions, and intellectual differences — then analysed genetic data to map traits onto biological profiles.

The four autism subtypes

1. Social & Behavioural Challenges (~37%)
   • Core autism features: social communication differences and repetitive behaviours.
   • Meet developmental milestones (walking, talking) in line with peers.
   • Common co-occurring conditions: ADHD, anxiety, depression, OCD.
   • Genetic variants expressed later in childhood
2. Mixed ASD with Developmental Delay (~19%)
   • Later attainment of early milestones (speech, motor).
   • Varying levels of social/repetitive traits, but generally fewer mental health challenges.
   • Enriched for rare inherited genetic variants
3. Moderate Challenges (~34%)
   • Present autistic traits to a milder degree.
   • Developmental milestones typically keep pace with neurotypical children.
   • Less likely to have co-occurring psychiatric conditions
4. Broadly Affected (~10%)
   • The most severe subgroup, with pronounced differences in social, communication, repetitive behaviours, development, and mental health (anxiety, depression, mood regulation).
   • Higher burden of de novo (spontaneous) damaging mutations rather than inherited ones.

Why this matters for families

1. Validation of neurodiversity

This research confirms that autism isn’t a single condition but a collection of diverse neuro‑biological pathways — and every child’s profile is uniquely valid.

2. Personalised insights and early guidance

If your child fits one of these subtypes, it could illuminate their developmental path, strengths, and areas needing support — helping you plan therapies, education strategies, and emotional care more effectively.

3. Tailored support strategies

For example:

• Children in the Mixed group may benefit from early speech and motor support.
• Those in the Social & Behavioural group might need help for anxiety, attention, or emotional regulation.
• Broadly Affected children may need more comprehensive, multidisciplinary support.

4. Timing of genetic effects

The study found that the when of genetic expression matters. Some children’s autistic traits arise after birth — particularly those in the Social & Behavioural group — emphasising the importance of ongoing observation and support, not just early detection.

5. Hope for future precision care

Knowing which genetic pathways are involved in your child’s subtype could, in future, guide personalised therapies, educational planning, and targeted interventions. It’s encouraging progress towards more precise, strength-based care.

Take away for parents…

This research expands the autism narrative: instead of a single “puzzle”, we’re seeing four distinct pieces, each with its own shape and colour. Recognising where your child fits can empower your parenting by offering:

• Clarity about developmental expectations
• Insight into co-occurring conditions to watch
• Confidence in planning specific supports
• A deeper appreciation of your child’s neuro‑distinctiveness as a normal, valuable way of being

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References

• Litman A et al. “Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programmes”, Nature Genetics, 9 July 2025, 57(7), 1611–1619 (Autism Speaks, pubmed.ncbi.nlm.nih.gov).
• Data release on Cancer four autism subtypes — Simons Foundation / NPJ, detailing the four groups and genetic profiles (EurekAlert!).
• SciTechDaily summary: Groundbreaking Study Identifies Four Biologically Distinct Autism Subtypes (SciTechDaily).
• Reuters/Health Rounds summary: New autism discovery paves way for personalised care (Reuters).