What role do de novo mutations play in autism development?

PostedNovember 22, 2025

UpdatedNovember 22, 2025

ByMy Patient Advice

Author: Hannah Smith, MSc | Reviewed by: Dr. Rebecca Fernandez, MBBS

De novo mutations and autism are increasingly central to understanding how some cases of autism spectrum disorder (ASD) arise. These are new mutations that appear spontaneously in a child’s DNA, without being inherited from either parent, and they can significantly influence ASD onset.

Researchers have discovered that many de novo mutations and autism links involve changes in genes essential for brain development. These spontaneous mutations may disrupt how neurons grow, connect, or signal, increasing the likelihood of neurodevelopmental differences. While not all new mutations lead to autism, certain ones, particularly those affecting synapse-related genes, have a stronger impact on developmental outcomes.

Common Traits and Treatment Paths

Individuals with ASD linked to de novo mutations often show a specific set of developmental traits. Here’s what they might look like and how treatment can help.

Developmental delays

This may involve later-than-average walking, talking, or social interaction. Early intervention therapies such as speech or occupational therapy can support developmental milestones and boost long-term outcomes.

Motor coordination issues

Clumsiness or poor hand-eye coordination may occur. Physical therapy can improve movement skills and daily independence.

Co-occurring conditions

These may include intellectual disability or ADHD. A combination of behavioural therapy and, in some cases, medication can help manage symptoms and support daily functioning.

If you are looking for expert advice or tailored assessments, consider booking a consultation with independent services like Autism Detect, where professionals can help guide you through personalised support plans based on individual needs.

For a deeper dive into the science, diagnosis, and full treatment landscape, read our complete guide to Gene Mutations and Chromosomal Variations.

Hannah Smith, MSc

Author

Hannah Smith is a clinical psychologist with a Master’s in Clinical Psychology and over three years of experience in behaviour therapy, special education, and inclusive practices. She specialises in Applied Behavior Analysis (ABA), Cognitive Behavioural Therapy (CBT), and inclusive education strategies. Hannah has worked extensively with children and adults with Autism Spectrum Disorder (ASD), ADHD, Down syndrome, and intellectual disabilities, delivering evidence-based interventions to support development, mental health, and 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.