Autism has long been understood as a spectrum, a broad range of developmental differences that can present in vastly different ways. But a groundbreaking 2025 study published in Nature Genetics, titled, ‘Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs’ is reshaping that view. This discovery offers a major leap forward in tailoring diagnosis, interventions and support systems finally bridging the gap between observed behaviours and underlying biology.

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Here’s What  The Study Found:

The study mentioned above was led by research teams from Princeton University and the Simons Foundation. They analysed over 5,000 children with autism (aged 4–18) plus 2,000 non‑autistic siblings, assessing nearly 240 traits per participant that spanned developmental, behavioural, psychiatric and medical domains.

Using advanced computational clustering applied to phenotypic and genetic data, researchers identified four subtypes, each with distinctive patterns of gene mutations, the timing of neurodevelopmental disruptions, and clinical features.

The 4 Sub-types Explained:

1. Social & Behavioural Challenges (37 per cent)

• What it looks like: Children in this group have clear difficulties with social communication (e.g. making eye contact, reading social cues) and repetitive routines, but they usually reach milestones like walking and talking at a normal pace.
• Other issues: They often also have ADHD, anxiety, depression or obsessive‑compulsive traits.
• Genetics: These kids tend to carry common genetic variants associated with psychiatric traits and those affecting brain circuits that develop later in childhood.

2. Mixed ASD (Autism Spectrum Disorder) with Developmental Delay (19 per cent)

• What it looks like: These children often learn to walk or talk later than usual and may have language or motor delays. Their repetitive or social challenges vary in severity (“mixed”), but they usually do not have anxiety, ADHD or disruptive behaviour.
• Genetics: This group shows both rare inherited mutations and some new mutations, often affecting genes active before birth during early brain development.

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3. Moderate Challenges (34 per cent)

• What it looks like: These children have core autism traits, social and repetitive behaviours, but generally milder than other groups. Developmental milestones typically occur on time and they rarely have other psychiatric conditions.
• Genetics: They show an intermediate pattern, less burden of rare mutations, and milder polygenic risk profiles.

4. Broadly Affected (10 per cent)

• What it looks like: Children in this smallest group experience the most severe challenges across the board: marked delays in speech, cognition and motor skills; major social and communication difficulties; and frequent co-occurring conditions such as anxiety, depression or mood regulation issues.
• Genetics: They are distinguished by the highest rates of new damaging mutations, particularly in key brain‑development genes that are not inherited from parents.

Why It Matters: Genetic & Clinical Implications

Each subtype corresponds to different genetic pathways and timing of brain changes: inherited variants versus spontaneous mutations, and prenatal versus later developmental disruption.

Researchers say it’s like discovering multiple jigsaw puzzles inside what looked like one, explaining why earlier genetic studies often failed to see clear connections until subtypes were separated.

Tailored interventions may finally become feasible: knowing the subtype could guide whether a child benefits most from behavioural therapy, psychiatric support, early developmental intervention or more targeted genetic counselling.

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What Families and Clinicians Should Know

• Diagnosis: Acknowledging subtype diversity helps explain why two autistic children with similar outward behaviour may require very different support.
• Prognosis: Subtypes may relate to differing developmental outcomes; for instance, the Mixed with Delay group may face early milestone challenges but fewer later psychiatric symptoms.
• Intervention: Combining subtype classification with personal strengths and needs enables more adaptive, personalised care.
• Genetic counselling: Knowing whether variants are inherited or new can inform discussions with families regarding recurrence risks.

This breakthrough reframes autism not just as a single, broad spectrum, but as distinct biological pathways manifested through four hidden subtypes. By linking behavioural traits with gene patterns and developmental timing, the research offers hope for earlier detection, subtype-specific interventions, and clearer guidance for families. As more subtypes emerge in future research, the promise of truly personalised autism care becomes ever more real.

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