Are distinct genetic subtypes recognised within autism?

PostedNovember 19, 2025

UpdatedNovember 19, 2025

ByMy Patient Advice

Author: Lucia Alvarez, MSc | Reviewed by: Dr. Rebecca Fernandez, MBBS

Yes, researchers have begun identifying genetic subtypes within the autism spectrum, helping to explain the wide diversity of traits and developmental pathways seen in autistic individuals. Advances in genetic testing and analysis have made it possible to classify certain forms of autism based on specific gene mutations or patterns, offering a clearer lens into autism’s biological foundations.

These genetic subtypes often relate to rare but high-impact mutations in genes such as CHD8, SHANK3, or SCN2A. While not all autistic individuals have identifiable genetic changes, the growing list of gene-linked classifications allows for more personalised diagnosis, support, and research. This new understanding adds structure to the autism spectrum, allowing for better clinical and therapeutic decisions based on underlying biology rather than just observable behaviours.

Why Genetic Subtypes Matter in Autism

Here are two key reasons genetic subtypes are becoming increasingly important in autism research and care:

Clarify causes and predict challenges

Knowing which gene is involved can help families and clinicians anticipate co-occurring challenges, such as intellectual disability, epilepsy or motor delays, that are more common in certain subtypes. This knowledge supports earlier, more targeted interventions.

Advance tailored treatment and classification

As genetic technologies improve, the classification of autism spectrum presentations will likely move beyond broad behavioural criteria to include biological markers. This shift could lead to personalised therapies based on a person’s specific genetic profile.

Recognising genetic subtypes within autism is reshaping how the condition is understood and managed. Visit providers like Autism Detect for personal consultations and further guidance on screening and support.

For a deeper dive into the science, diagnosis and full treatment landscape, read our complete guide to Genetic Influences.

Lucia Alvarez, MSc

Author

Lucia Alvarez is a clinical psychologist with a Master’s in Clinical Psychology and extensive experience providing evidence-based therapy and psychological assessment to children, adolescents, and adults. Skilled in CBT, DBT, and other therapeutic interventions, she has worked in hospital, community, and residential care settings. Her expertise includes grief counseling, anxiety management, and resilience-building, with a strong focus on creating safe, supportive environments to improve mental well-being.

All qualifications and professional experience stated above are authentic and verified by our editorial team. However, pseudonym and image likeness are used to protect the author's privacy.

Dr. Rebecca Fernandez, MBBS

Reviewer

Dr. Rebecca Fernandez is a UK-trained physician with an MBBS and experience in general surgery, cardiology, internal medicine, gynecology, intensive care, and emergency medicine. She has managed critically ill patients, stabilised acute trauma cases, and provided comprehensive inpatient and outpatient care. In psychiatry, Dr. Fernandez has worked with psychotic, mood, anxiety, and substance use disorders, applying evidence-based approaches such as CBT, ACT, and mindfulness-based therapies. Her skills span patient assessment, treatment planning, and the integration of digital health solutions to support mental well-being.

All qualifications and professional experience stated above are authentic and verified by our editorial team. However, pseudonym and image likeness are used to protect the reviewer's privacy.