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Characterizing obsessive-compulsive features in Duchenne muscular dystrophy: a DSM-5 approach
Francesca Cumbo1, Michele Tosi1, Michela Catteruccia1
1Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Neuromuscular Disorders : NMD
|July 29, 2026
Summary
Obsessive-Compulsive Disorder (OCD) traits are common in Duchenne Muscular Dystrophy (DMD), affecting over 68% of patients. Early recognition and tailored interventions are crucial for managing these traits and improving overall functioning in individuals with DMD.
Area of Science:
- Neurology
- Psychiatry
- Genetics
Background:
- Obsessive-Compulsive Disorder (OCD) traits are increasingly noted in Duchenne Muscular Dystrophy (DMD).
- Limited standardized diagnostic data exists for OCD in DMD patients.
- This study addresses the gap by systematically examining OCD traits in DMD.
Purpose of the Study:
- To systematically investigate the prevalence and characteristics of Obsessive-Compulsive Disorder (OCD) traits in pediatric and young adult patients with Duchenne Muscular Dystrophy (DMD).
- To explore the relationship between OCD traits, genetic factors, cognitive performance, and overall functioning in DMD.
- To inform clinical evaluation and intervention strategies for this population.
Main Methods:
- A single-center, cross-sectional observational study involving 77 Duchenne Muscular Dystrophy (DMD) patients.
- Administration of standardized psychometric instruments to assess cognitive functioning and obsessive-compulsive symptomatology.
- Qualitative identification and psychometric confirmation of OCD traits.
Main Results:
- Obsessive-Compulsive Disorder (OCD) traits were identified in 68.8% of Duchenne Muscular Dystrophy (DMD) patients.
- OCD traits were significantly associated with reduced general functioning.
- Correlations were found between DMD gene mutation site, cognitive performance, and OCD traits. OCD traits were more prevalent in patients with normal IQ, while in those with intellectual disability, they related more closely to functional impairment.
Conclusions:
- A high prevalence of Obsessive-Compulsive Disorder (OCD) traits exists in Duchenne Muscular Dystrophy (DMD) patients, impacting their general functioning.
- The study highlights the interplay between genetic factors, cognitive status, and psychopathology in DMD.
- Nuanced clinical evaluation and individualized interventions are essential for holistic care in DMD, focusing on recognizing and managing OCD traits.
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