Uncovering Comorbid Psychopathology in Children With Duchenne Muscular Dystrophy: Insights From an Observational Study

Abstract Background Duchenne Muscular Dystrophy (DMD) is the most common inherited childhood muscular dystrophy, caused by mutations in the DMD gene on the X chromosome. It is characterized by progressive muscle weakness and functional loss, which may contribute to psychiatric and neurodevelopmental conditions such as anxiety, depression, attention deficit hyperactivity disorder (ADHD), and autism spectrum traits. These comorbidities, together with motor function impairment, negatively affect daily functioning, social adaptation, and quality of life. This study aimed to evaluate both the physical impact, including motor function, and the accompanying psychiatric and neurodevelopmental features in children and adolescents with DMD. Methods Forty-three children with genetically confirmed DMD were included and classified by ambulatory status using the Ambulatory Functional Classification System for DMD (AFCSD), with levels 4–5 considered non-ambulatory. Structured interviews with K-SADS-PL assessed psychiatric comorbidities, and cognitive function was evaluated using the Wechsler Intelligence Scale for Children–Revised (WISC-R). Parents completed questionnaires on attention deficit and hyperactivity (ADHD Rating Scale), autistic traits (ASSQ), and anxiety and depressive symptoms (RCADS). Psychiatric and cognitive outcomes were compared by ambulatory status. Results Participants had a mean age of 9.9 ± 1.9 years; 72% were ambulatory and 81% received special education. Psychiatric assessment revealed that 83% had at least one comorbid disorder, predominantly ADHD (58%), anxiety (21%), and major depressive disorder (5%). Mean total IQ was 78. RCADS total scores exceeded cutoff values, indicating clinically significant anxiety and depression, while ADHD and ASSQ scores were generally below population thresholds. No significant differences in psychiatric or behavioral measures were observed between ambulatory and non-ambulatory children, though cognitive scores were lower in non-ambulatory participants (p = 0.039). Conclusions Children and adolescents with DMD exhibit a high prevalence of psychiatric comorbidities that are not solely determined by motor function. Cognitive profiles are variable, emphasizing the need to assess both global and domain-specific abilities. Early, multidisciplinary follow-up and intervention can mitigate psychiatric symptom burden and support psychosocial well-being.