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Genetic Etiologies and Risk Factors for Regressive Autism and Childhood Disintegrative Disorder: A Scoping Review
Jennifer Fairthorne1,2, Fiona Rae1, Abha Gupta3
1Centre for Genomics and Personalised Health, School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Kelvin Grove, Queensland, Australia.
Journal of Child Neurology
|July 6, 2026
Summary
Regressive autism, a subtype of autism spectrum disorder, involves developmental regression after a period of normal development. Research highlights nearly 90 genetic variants and various contributing factors, necessitating a precise definition for further study.
Area of Science:
- Neurodevelopmental Disorders
- Genetics
- Pediatric Neurology
Background:
- Autism spectrum disorder (ASD) is characterized by social communication deficits and restricted behaviors.
- Regressive autism involves developmental regression after normal early development, a phenomenon also seen in childhood disintegrative disorder.
- The etiology and correlates of regressive autism and childhood disintegrative disorder remain incompletely understood.
Purpose of the Study:
- To conduct a scoping review to identify and summarize the genetic etiologies and correlates of regressive autism and childhood disintegrative disorder.
- To synthesize current research on the causes and associated factors of these specific autism subtypes.
- To highlight the need for a precise definition and further research into biomarkers and endotypes.
Main Methods:
- Scoping review methodology was employed.
- Searched four databases using relevant keywords for papers published between January 2010 and February 2024.
- Thirty-two papers were included in the final analysis.
Main Results:
- Nearly 90 genetic variants were associated with regressive autism and childhood disintegrative disorder.
- Epigenetic factors, immune dysfunction, and toxicant exposures were linked to autistic regression.
- Recurring comorbidities included inflammatory bowel disease, fever, and mitochondrial disease.
Conclusions:
- Regressive autism is variably defined, hindering research progress; a precise definition is crucial.
- The diverse etiologies of regressive autism and childhood disintegrative disorder underscore the need for biomarkers and endotypes.
- Given its increasing prevalence, enhanced research into regressive autism is vital for improving outcomes and providing genetic counseling.
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