An Assessment of Paediatricians' Knowledge and Perspectives of Duchenne Muscular Dystrophy in Oman

Duchenne muscular dystrophy (DMD) is a severe, X-linked recessive disorder. The rarity of DMD and insufficient training result in paediatricians being uninformed about the condition, delaying diagnosis and treatment. This study aimed to evaluate the knowledge and perspectives of Oman's paediatric residents and paediatricians regarding the genetics, clinical features and therapy of DMD. Furthermore, this study assessed the association between residency training phases (R1-R4) and post-residency knowledge, together with the influence of professional titles on DMD knowledge.

This prospective cross-sectional study was conducted from October 2024 to February 2025 and included paediatric healthcare practitioners. An online questionnaire was used to enquire about DMD's genetic, clinical and management components. Knowledge scores were evaluated by residency level and professional title and used a Kruskal-Wallis test (P <0.05) for statistical significance.

A total of 151 participants were included in this study (response rate = 54.6%); 94% correctly identified DMD as X-linked and 96% as male-dominated. However, only 44.7% correctly identified high creatine kinase-MM levels as a neonatal screening marker and 33.3% were unsure of glucocorticoid use in DMD. Performance improved with residency year, with later-stage residents performing better in clinical features and management (P <0.001). Knowledge of DMD varied by professional title (P = 0.04), with residents scoring the lowest and senior specialists the highest.

DMD management options are poorly understood by paediatricians in this study. Despite considerable genetic information, diagnostic indicators and disease-modifying medicines were poorly understood. The findings suggest that junior residents need targeted instruction and ongoing professional development to provide comprehensive management for DMD patients.