Neuropsychological management in Duchenne muscular dystrophy: A critical overview and future directions

Pediatric neuromuscular disorders constitute a highly heterogeneous group of over 200 distinct conditions, varying in etiology, affected structures (e.g., peripheral motor neurons, neuromuscular junction, or muscle tissue), central nervous system involvement, age of onset, severity, and progression. Among these, Duchenne muscular dystrophy (DMD) is the most common and extensively studied genetic neuromuscular disorder in childhood. Increasing evidence suggests that DMD is not solely a motor condition but also involves a distinct neuropsychological phenotype, frequently characterized by cognitive impairments and comorbid neurodevelopmental disorders. This article provides a comprehensive review of the neuropsychological profile associated with DMD, with particular emphasis on language, memory, executive functions, and social cognition. The developmental trajectory of these domains is discussed in light of recent findings, including genotype-phenotype correlations. Furthermore, we offer recommendations for systematic neuropsychological assessment and screening for early non-motor symptoms, and propose emerging intervention strategies to support cognitive development in individuals with DMD.