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Systematic Review: Convergence and Divergence Between Autism Spectrum Disorder and Obsessive-Compulsive Disorder: Genetic, Neuroimaging, and Cognitive Findings - 28/01/26

Doi : 10.1016/j.jaac.2025.06.017 
Joseph A. Pereira, MD a, b, Jeremy Veenstra-VanderWeele, MD a, b, c, Amandeep Jutla, MD a, c, ⁎
a Columbia University, New York, New York 
b Weill Cornell Medicine in New York, New York 
c New York State Psychiatric Institute in New York, New York 

∗ Correspondence to Amandeep Jutla, MD, 1051 Riverside Drive, Mail Unit 78, New York, NY 10032 Mail Unit 78 1051 Riverside Drive New York NY 10032

Abstract

Objective

Autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD), albeit distinct diagnoses, overlap in presentation and frequently co-occur. However, the relationship between them remains poorly understood. We reviewed comparative studies of ASD and OCD to identify patterns of convergence and divergence across these diagnoses at cognitive, neurobiological, and genetic levels.

Method

We searched MEDLINE, Web of Science, and PsycInfo databases. The systematic review was registered on PROSPERO (ID: CRD42023395895). Studies that compared individuals with ASD and OCD regarding cognition, neurobiology, or genetics were included. Articles were screened in 2 phases: (1) for relevancy, and (2) based on exclusion and inclusion criteria. We conducted a qualitative synthesis of the results.

Results

The search yielded 2,009 articles. After excluding irrelevant articles (n = 1,623), including studies examining compulsivity without an OCD scale (n = 71), nonempirical reports (n = 97), nonhuman studies (n = 42), studies that were out of scope (n = 6), duplicates (n = 7), and studies with fewer than 20 participants in any comparator group (n = 111), 50 articles remained and were included in the qualitative synthesis.

Conclusion

At a genetic level, ASD and OCD share heritability, but studies of polygenic risk are limited. At a neuroimaging level, both diagnoses are associated with reduced cortical thickness in the temporal lobe, but ASD is specifically associated with increased frontal cortical thickness. At a cognitive level, inflexibility may be characteristic of both conditions, but performance in facial emotion processing and sustained attention may differ. The literature is limited by heterogeneity and reduced focus on quantitative traits. Future studies are needed to clarify these relationships.

Plain language summary

Autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) are different diagnoses, but both involve repetitive behavior, and children with ASD are much more likely than neurotypical children to be diagnosed with OCD. But the connection between ASD and OCD is not well understood. This systematic review examined the relationships of ASD and OCD at three levels: genetic, neurobiological, and cognitive. Similarities and differences were identified at all levels, though existing studies have some limitations. Future work is needed to better understand the relationships between these diagnoses.

Study registration information

Comparison of Genetic, Neurobiological, and Cognitive Underpinnings of Autism Spectrum Disorder and Obsessive-Compulsive Disorder: A Systematic Review; https://www.crd.york.ac.uk/PROSPERO/view/CRD42023395895

Le texte complet de cet article est disponible en PDF.

Key words : autism spectrum disorder, obsessive-compulsive disorder, neuroimaging, genetics, cognition


Plan


 This project was supported by the National Institutes of Mental Health grants T32-MH016434 and 1K23MH132874.
 Data Sharing: Data collected for the study will be made available upon publication.
 This article is part of a special series devoted to the subject of the mental health of autistic children and adolescents. The series was edited by Guest Editors Ellen Hoffman, MD, PhD, David Cochran, MD, PhD, Meng-Chuan Lai, MD, PhD, and Emily Simonoff; MD, FRCPsych, Consulting Editor Jean Frazier, MD, Associate Editor Robert R. Althoff, MD, PhD, and Editor-in-Chief Douglas K. Novins, MD.
 This study was presented at AACAP’s 2024 Annual Meeting; October 18, 2024; Seattle, Washington.
 Disclosure: Jeremy Veenstra-VanderWeele has consulted or served on an advisory board for Roche Pharmaceuticals, Novartis, SynapDx, and Yamo Pharmaceuticals. He has received research funding from Roche Pharmaceuticals, Novartis, SynapDx, Seaside Therapeutics, Janssen, Yamo Pharmaceuticals, MapLight, Acadia, Forest, the Simons Foundation, the Department of Defense, and the National Institute of Health. He has also received an editorial stipend from Springer and Wiley. Amandeep Jutla has received research funding from the National Institute of Health. Joseph Pereira has reported no biomedical financial interests or potential conflicts of interest.


© 2025  American Academy of Child and Adolescent Psychiatry. Publié par Elsevier Masson SAS. Tous droits réservés.
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Vol 65 - N° 2

P. 250-268 - février 2026 Retour au numéro
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