Can Autism Be Misdiagnosed as Autism-Like Genetic Syndromes?

PostedNovember 13, 2025

UpdatedNovember 13, 2025

ByMy Patient Advice

Author: Beatrice Holloway, MSc | Reviewed by: Dr. Rebecca Fernandez, MBBS

Yes, autism vs genetic syndromes is a real diagnostic concern, especially in early development when behaviours can look deceptively similar. Genetic conditions that impact neurological and cognitive function often share traits with autism, such as communication challenges, repetitive movements, and sensory sensitivities. Without a full medical and developmental picture, mislabelling can occur.

Genetic syndromes differ from autism in their biological roots. While autism is a neurodevelopmental condition diagnosed through behavioural observations, some genetic syndromes have identifiable mutations and additional physical signs. A holistic diagnostic approach is crucial, especially when symptoms seem to overlap.

Signs That May Be Confused

Here are a few examples of overlapping traits and how professionals begin to tell them apart:

Delayed Communication

Children with certain genetic conditions may have similar language delays to autistic individuals. However, their developmental trajectories often include distinct patterns or regression.

Physical or Neurological Features

Some genetic syndromes, like Fragile X, present with physical markers (e.g. elongated face, joint flexibility) that are not part of autism but may go unnoticed without genetic testing.

Movement Regression

In Rett syndrome, children may lose skills over time, including purposeful hand use. This type of regression differs from autism, where skill loss is less typical.

Diagnostic Challenges
Misinterpreting these overlapping signs as purely behavioural can result in clinical misinterpretation. That’s why developmental history, genetic testing, and multidisciplinary input matter.

Visit providers like Autism Detect for personal consultations that consider the full diagnostic picture.

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

Beatrice Holloway, MSc

Author

Beatrice Holloway is a clinical psychologist with a Master’s in Clinical Psychology and a BS in Applied Psychology. She specialises in CBT, psychological testing, and applied behaviour therapy, working with children with autism spectrum disorder (ASD), developmental delays, and learning disabilities, as well as adults with bipolar disorder, schizophrenia, anxiety, OCD, and substance use disorders. Holloway creates personalised treatment plans to support emotional regulation, social skills, and academic progress in children, and delivers evidence-based therapy to improve mental health and well-being across all ages.

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.