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Lookup NU author(s): Dr Chloe GeaganORCiD, Professor Volker StraubORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author(s) 2026.Duchenne muscular dystrophy (DMD) is a severe X-linked disorder characterised by dystrophin deficiency, leading to progressive muscle degeneration and reduced life expectancy. Recent studies report neurodevelopmental and psychiatric comorbidities, though their manifestations remain only partially understood. In this multicentre European study, conducted within the Brain Involvement iN Dystrophinopathies (BIND) consortium, we assessed neurobehavioural outcomes in 238 males aged 5–17 years with genetically confirmed DMD, using standardised parent-report questionnaires. Parent-reported symptoms were reviewed and rated by trained clinicians using criteria from the Diagnostic and Statistical Manual of Mental Disorders (DSM-V1). We compared findings with two UK-based cohorts: (1) children with pathogenic copy number variants (CNVs) from the IMAGINE-ID study [2] (n = 470; matched on sex, chronological age, and parent-estimated mental age), and (2) a male normative population sample [3] (n = 3,851). Clinician-rated Development and Well-Being Assessment (DAWBA) assessments indicated that 21% of participants met criteria for at least one DSM-5 diagnosis, including attention-deficit/hyperactivity disorder (ADHD, 8.4%), anxiety-type disorders (7.9%), and autism spectrum disorder (ASD, 6.7%). Genotype-phenotype analyses within DMD revealed elevated ASD prevalence in individuals with Dp140– variants, while ADHD and anxiety were distributed across genotypic groups. Although the DMD cohort exhibited a less severe neurobehavioral impact than the IMAGINE-ID group, they showed markedly elevated emotional and behavioural difficulties as well as prevalence of DAWBA-based diagnoses compared to normative population data. Our findings underscore the neuropsychiatric burden associated with DMD and support the need for routine screening and stratified care approaches informed by genotype.
Author(s): Kolesnik A, Geagan C, Weerkamp P, Miranda R, Slipsager A, Desguerre I, Straub V, Hendriksen J, Mercuri E, Muntoni F, Skuse D, Wolstencroft J, Vroom E, Vogel A, Vissing J, Stemmerik MPG, Spitali P, Smythe L, Siminiuc S, Sakellariou E, Poncet S, Pellizzari M, Niks E, Moriconi F, Mandy W, Malinova M, Gregory L, Hendel R, Hemar L, Hankinson C, Guliaeva I, Govaart R, Fortunato F, Garcia-Moreno LM, Durrlemann C, Drummond E, Chieffo DPR, Boddaert N, Bakker S-A, Suarez Bagnasco M, Athanasiou D, Angeard N
Publication type: Article
Publication status: Published
Journal: European Child and Adolescent Psychiatry
Year: 2026
Pages: epub ahead of print
Online publication date: 28/04/2026
Acceptance date: 08/02/2026
Date deposited: 26/05/2026
ISSN (print): 1018-8827
ISSN (electronic): 1435-165X
Publisher: Springer Science and Business Media Deutschland GmbH
URL: https://doi.org/10.1007/s00787-026-02988-7
DOI: 10.1007/s00787-026-02988-7
Data Access Statement: Authors confirm that the datasets supporting the find ings of this study are deposited in the Duchenne Data Repository at h t t p s : / / r e p o s i t o r y . d u c h e n n e d a t a f o u n d a t i o n . o r g / d a t a s e t / d e e p - c o g n i t i v e - a n d - b e h a v i o r a l - p h e n o t y p i n g - o f - p a t i e n t s - w i t h - d y s t r o p h i n o p a t i e s and under the license CC BY-NC-ND: A t t r i b u t i o n - N o n C o m m e r c i a l - N o D e r i v a t i v e s 4.0. Interested parties may request access by completing the data access form in the repository’s portal. Access requests will be reviewed in accordance with the repository’s data sharing policies and the terms of the license.
PubMed id: 42047813
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