Background: Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder, characterized by progressive physical decline beginning in early childhood. In addition to physical impairment, individuals with DMD frequently experience neuropsychiatric comorbidities including depression and anxiety. Mental health screening commonly relies on both patient and caregiver reported questionnaires; however, alignment between patient and caregiver perceptions remains incompletely characterized.
Objective: To evaluate discrepancies between patient and caregiver reported mental health screening among children and adolescents with DMD.
Methods: We conducted a retrospective chart review of 276 patients with DMD, encompassing 1,513 clinic visits between January 30, 2019, and August 18, 2025. Visits included patients aged ≥5 and <19. Patient- and caregiver-completed PROMIS Depression and Anxiety questionnaires were analyzed. Patient self-report analyses were restricted to validated ages 8 to <18 years. Results: Across all pediatric age strata, patient-reported depression scores were significantly higher than caregiver proxy reports (p<0.05), without significant differences between age groups. Patient-reported anxiety scores similarly did not vary significantly across age strata. However, patient-reported anxiety scores were significantly lower than caregiver proxy reports in the oldest adolescent group (ages 15.5-17.99; p<0.05), without significant patient-caregiver differences observed in younger age groups. Patient-reported anxiety scores were highest in the oldest adolescent group (13.56 ± 6.44), while patient-reported depression scores were highest in the youngest age group (15.58 ± 6.53). In contrast, caregiver-reported anxiety and depression scores were both highest in the oldest age group (16.16 ± 6.61 and 11.71 ± 5.35, respectively). Conclusions: Patient and caregiver perceptions of mental health differ meaningfully in DMD. Caregivers consistently under-recognized depressive symptoms relative to patient self-report across childhood and adolescence, while discrepancies in anxiety reporting emerged only in late adolescence. These findings highlight the importance of incorporating patient-reported outcome measures into routine clinical care, as reliance on caregiver report alone may misestimate psychological distress.