Characterizing obsessive-compulsive features in Duchenne muscular dystrophy: a DSM-5 approach

Obsessive-Compulsive Disorder (OCD) traits are increasingly recognized as part of the broader psychopathological profile in Duchenne Muscular Dystrophy (DMD). However, standardized diagnostic data based on DSM-5 criteria are limited. This study aimed to systematically examine OCD traits in pediatric and young adult patients with DMD. In this single-center, cross-sectional observational study, 77 DMD patients were enrolled, regardless of disease severity or comorbidities. Standardized psychometric instruments were administered to assess cognitive functioning and obsessive-compulsive symptomatology. OCD traits were qualitatively identified in 68.8% of patients. Psychometric tests confirmed this high prevalence. OCD traits were significantly associated with reduced general functioning, underscoring the impact of psychopathological dimensions in DMD. Correlations emerged between the site of mutation in the DMD gene, cognitive performance and OCD traits. Interestingly, OCD traits were more frequent in patients with normal IQ, while in those with intellectual disability were more closely related to functional impairment. These findings highlight the need for nuanced clinical evaluation and individualized interventions addressing the interaction between genetic, cognitive, and psychopathological factors in DMD. The study underscores the importance of a holistic approach to care, emphasizing the recognition and management of OCD traits within this population.