The paradigm shift from a single autism to multiple autisms through the convergence of genomic research and neurodiversity advocacy
For decades, the concept of autism as a singular spectrum disorder has shaped both public understanding and scientific research. The familiar image of a linear continuum from "mild" to "severe" autism is rapidly giving way to a more complex truth—what if we're not looking at one autism, but multiple autisms with distinct biological origins and life trajectories? Groundbreaking research is now revealing what autistic advocates have long expressed through the neurodiversity movement: that autism encompasses fundamentally different conditions with unique genetic profiles, developmental pathways, and support needs 5 .
The identification of biologically distinct autism subtypes 5 aligns with the advocacy community's insistence that "if you've met one autistic person, you've met one autistic person" 9 . This article explores how cutting-edge genomics and the neurodiversity movement together are reshaping our understanding of what autism is, how it develops, and what constitutes meaningful support.
The traditional view of autism as a linear spectrum has proven inadequate for capturing the condition's complexity. The DSM-5 diagnostic framework introduced three levels based on support needs, but this clinical categorization often fails to predict individual outcomes or guide personalized interventions 8 . Meanwhile, the autistic community has consistently challenged the deficit-based perspective that underlies these diagnostic approaches, advocating instead for understanding autism as a form of natural neurological diversity 3 9 .
The neurodiversity movement, led by autistic self-advocates, has fundamentally redefined the conversation around autism. Rather than viewing autism as a disease to be cured, this framework recognizes it as an integral aspect of identity 6 .
"Nothing About Us Without Us"
- Autistic Self-Advocacy Network
In July 2025, a transformative study published in Nature Genetics revealed that autism can be categorized into at least four biologically distinct subtypes 5 . Led by researchers at Princeton University and the Simons Foundation, the team analyzed data from over 5,000 children in the SPARK autism cohort study, employing a novel "person-centered" computational approach that considered more than 230 traits simultaneously—from social interactions and repetitive behaviors to developmental milestones and co-occurring conditions 5 .
Children Analyzed
Core autism traits, typical developmental milestones, often with ADHD, anxiety, or depression.
Mutations in genes active later in childhood
Developmental delays in walking/talking, minimal co-occurring mental health conditions.
Rare inherited genetic variants
Milder core autism traits, typical milestones, few co-occurring psychiatric conditions.
Genetic profile not specified
Significant developmental delays, social-communication difficulties, multiple co-occurring conditions.
Highest rate of damaging de novo mutations
The research revealed that these subtypes follow different developmental pathways that align with their genetic profiles. Perhaps most strikingly, the study found differences in when relevant genetic variations affect brain development across subtypes 5 . While most genetic impacts on autism were thought to occur prenatally, the Social and Behavioral Challenges subtype—characterized by significant social difficulties and later diagnosis—involved mutations in genes that become active later in childhood.
This finding suggests that the biological mechanisms of autism may unfold on different timetables across subtypes. Co-lead author Aviya Litman noted, "These findings point to specific hypotheses linking various pathways to different presentations of autism" 5 . The Broadly Affected and Mixed ASD with Developmental Delay subtypes, despite sharing some clinical features like intellectual disability, showed completely different genetic patterns—the former dominated by spontaneous mutations not inherited from parents, the latter by rare inherited variants 5 .
| Subtype | Primary Genetic Features | Developmental Timing | Biological Pathways |
|---|---|---|---|
| Social & Behavioral Challenges | Modest polygenic burden | Postnatal gene activation | Neural connectivity, synaptic function |
| Mixed ASD with Developmental Delay | Rare inherited variants | Prenatal/early development | Brain structure formation |
| Moderate Challenges | Not specified | Not specified | Not specified |
| Broadly Affected | High de novo mutation burden | Early prenatal development | Multiple fundamental cellular processes |
Modern autism research relies on a sophisticated array of methodological approaches and analytical tools. The landmark study exemplifies this interdisciplinary approach, combining genomic sequencing with detailed phenotypic assessment and advanced computational modeling.
Identifies genetic variations across entire genome to discover inherited and de novo mutations associated with autism subtypes.
Groups individuals based on multidimensional data patterns to identify biologically meaningful autism subtypes without preconceived categories.
Standardized assessments providing consistent phenotypic data across research participants through observation and caregiver interviews .
| Method/Reagent | Function/Role | Application in Autism Research |
|---|---|---|
| Whole-genome sequencing | Identifies genetic variations across entire genome | Discovering inherited and de novo mutations associated with autism subtypes |
| Computational clustering algorithms | Groups individuals based on multidimensional data patterns | Identifying biologically meaningful autism subtypes without preconceived categories |
| Autism Diagnostic Observation Schedule (ADOS-2) | Standardized assessment of social interaction and communication | Providing consistent phenotypic data across research participants |
| Autism Diagnostic Interview-Revised (ADI-R) | Comprehensive caregiver interview about developmental history | Gathering detailed retrospective and current behavioral data |
| Polygenic risk scoring | Estimates cumulative effect of multiple genetic variants | Quantifying genetic liability for autism and related traits 2 |
| Growth mixture modeling | Identifies latent trajectory classes in longitudinal data | Mapping different developmental pathways in autism 2 |
The genomic revolution in autism research coincides with another transformative movement: the rise of autistic self-advocacy and the neurodiversity paradigm. While these developments might seem unrelated, they increasingly inform and reinforce each other.
The neurodiversity movement, embodied by organizations like the Autistic Self-Advocacy Network (ASAN), argues that autism represents a form of natural neurological variation rather than a disease to be cured 9 . ASAN's motto—"Nothing About Us Without Us"—encapsulates their demand that autistic people must be involved in decisions about autism research, policies, and services 9 .
This perspective has gained significant traction, influencing how researchers frame their questions and what outcomes they consider meaningful. Autistic advocates have particularly criticized interventions focused on making autistic people appear "less autistic," arguing that this can lead to masking—the suppression of natural autistic behaviors—at great cost to mental health 6 .
The convergence of advocacy and science is particularly evident in how researchers now discuss their findings. The Princeton team explicitly noted that their subtypes "represent different clinical presentations and outcomes" 5 , acknowledging the diversity of autistic experiences rather than framing autism as a monolithic condition. This nuanced approach reflects the advocacy community's emphasis on recognizing the full humanity and individuality of autistic people.
The discovery of biologically distinct autism subtypes marks a paradigm shift in how we understand and approach autism. Rather than a single spectrum with varying severity, we now see multiple autisms with different underlying mechanisms, developmental trajectories, and support needs. This refined understanding promises more personalized approaches to care and support that align with the neurodiversity movement's emphasis on respecting individual differences.
As research continues to unravel the complexities of autism biology, the insights from autistic advocates remain essential for ensuring that scientific advances translate into meaningful improvements in quality of life. Jennifer Foss-Feig, a clinical psychologist and study co-author, noted that understanding an individual's autism subtype could "tell families, when their children with autism are still young, something more about what symptoms they might—or might not—experience, what to look out for over the course of a lifespan, which treatments to pursue, and how to plan for their future" 5 .
As we continue to unravel the complexities of multiple autisms, we move closer to a world where every autistic person receives the specific understanding and support they need to thrive.
References to be added