Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: A review

• Duchenne muscular dystrophy (DMD) has a central nervous system component.
• Intellectual and cognitive abilities are often impacted in DMD.
• Boys with DMD tend to display verbal memory deficits and executive dysfunction.
• Depression and difficulties with social interactions are often present in DMD.
• Comorbid conditions include autism spectrum and obsessive-compulsive disorders.

Duchenne muscular dystrophy (DMD) is a genetic condition affecting predominantly boys that is characterized by fatal muscle weakness. While there is no cure, recent therapeutic advances have extended the lifespan of those with DMD considerably. Although the physiological basis of muscle pathology is well-documented, less is known regarding the cognitive, behavioral, and psychosocial functioning of those afflicted. Several lines of evidence point to central nervous system involvement as an organic feature of DMD, challenging our view of the disorder as strictly neuromuscular. This report provides a review of the literature on neuropsychological and neurobehavioral functioning in DMD. Recent research identifying associations with DMD and neuropsychiatric disorders is also discussed. Lastly, the review presents implications of findings related to nonmotor aspects of DMD for improving the quality of life in those affected. While the literature is often contradictory in nature, this review highlights some key findings for consideration by clinicians, educators and parents when developing therapeutic interventions for this population.