Seeing Autism Through Multiple Lenses: Genetics, Diagnosis, and Lived Experience- A Recent Study

Seeing Autism Through Multiple Lenses: Genetics, Diagnosis, and Lived Experience- A Recent Study

https://rdcu.be/eObEa

A new study published in Nature (2025) looked at whether autism presents differently depending on the age at which someone is diagnosed or identified. Using genetic and developmental data from thousands of autistic people, researchers identified two broad patterns.

Those diagnosed in early childhood were more likely to show differences in communication and social development that were noticed early. Those diagnosed later in adolescence or adulthood often had genetic profiles that overlapped more with characteristics such as emotional sensitivity, ADHD, or anxiety.

This seems like a typical “genetic study,” seeking to map biological variation and trace developmental trajectories. However, for those of us invested in neuroaffirming practice, it offers a chance to pause and reflect: what does this research mean when viewed through a lens that values identity, lived experience, and context?

The Biomedical Perspective

From a traditional biomedical point of view, the findings make sense. Autism has long been recognised as highly heterogeneous. Some people present with strong early social and/or communication differences. Others may have more subtle characteristics or co-occurring conditions that only become obvious later in life.

The study reinforces the idea that autism is not one thing. There may be multiple developmental pathways, each with different genetic influences. In practical terms, used wisely, understanding these differences could eventually help researchers design more tailored accommodations or anticipate the support needs of diverse groups of autistic people.

Seen purely through this lens, the research speaks to variation and developmental profiling. It is undeniably valuable for the scientific community and their understanding of autism.

The Neuroaffirmative Perspective

A neuroaffirmative view tells a complementary story. Rather than focusing on “subtypes” or implying deficit, we can ask a different question: what do these patterns tell us about how society recognises and responds to difference?

Some autistic people are noticed early because their "ways of being" are more visible beyond current existing developmental expectations. They may have clear communication differences, sensory sensitivities that are hard to mask, or behaviours that stand out in school or clinical settings.

Others, however, go through childhood and even adolescence unnoticed and unrecognised. Often, these are people who do not fit common stereotypes of autism, such as girls and AFAB people, whose external presentation may be more subtle or easier to miss. These individuals frequently learn to mask, hide, or suppress natural behaviours to survive in a world that is not always designed to accommodate them.

When these individuals are finally diagnosed/identified later in life, they often carry the emotional weight of having spent many years masking, adapting, contorting themselves, and navigating environments that did not align with their ways of being. Anxiety, burnout, or other co-occurring difficulties may be more apparent. This is not because their neurology is different, but because the social and cultural context failed to see and support them earlier.

From a neuroaffirmative standpoint, this research is less about biological subtypes and more about the interaction between neurological difference and society. Genetics may shape tendencies, but the environment shapes well-being.

Why Both Perspectives Matter

The biomedical perspective helps us understand variation and could informs research into developmental pathways. If used appropriately, it can be useful for scientists, clinicians, and policymakers who want evidence-based strategies for early identification and support.

The neuroaffirmative perspective reminds us that lived experience, identity, and social context are equally important. It encourages us to ask questions such as: how can we design schools, workplaces, and healthcare systems that recognise and support difference rather than pathologising it and assuming deficit or disease? How can we reduce the need for masking and help autistic people flourish?

Bringing This Into Practice

For parents, educators, and practitioners, this has several practical implications:

• Individualised support matters: Early or late diagnosis does not define a person’s needs. Tailoring support to everyone’s strengths and challenges is essential.

• Masking and late recognition: Be aware that later-diagnosed individuals may carry years of stress or unrecognised need. Compassionate, identity-affirming support is crucial.

• Diversity is not a deficit: Differences in presentation are natural variations of human neurology, not evidence of weakness or “lesser ability.”

• Systems need to adapt: Schools, workplaces, and healthcare settings must be designed to recognise and accommodate difference rather than forcing conformity.

A Final Thought

This study reminds us that autism is not a single, rigid category. It is a spectrum of difference, shaped by both genetics and lived experience. The question is not how we fit people into neat boxes, but how can we shape a world so that neurodivergent people can flourish.

For me personally, neuroaffirming practice in this context is not a rejection of science, but a call to integrate scientific evidence and knowledge carefully with humanity, compassion, and respect for the rich diversity of human minds.