Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular condition manifested by progressive skeletal muscle weakness, cardiopulmonary involvement and cognitive deficits. Neurodevelopmental symptoms and signs are under-appreciated in this population despite the recognition that cognition has a major impact on quality-of-life. Here, the authors systematically evaluated the prevalence of neurodevelopmental needs, stratified based on DMD mutation location, in a large prospectively followed cohort of 204 boys between ages 4 to less than 9 years with DMD. These 204 boys were recruited as part of the DMD Natural History Study (DHNS) conducted by the Cooperative International Neuromuscular Research Group (CINRG)19. They describe the neurodevelopmental needs in this young cohort at study enrollment as reported by the parent or primary care-giver. Data supporting that young boys with DMD have a high prevalence of neurodevelopmental needs as reported by parent or care-giver are presented. Further, boys with DMD mutations between exons 45-50 reported higher cognitive problems. There was no relationship between neurodevelopmental needs and glucocorticoid use. The authors conclude that there is an unmet, critical medical need in DMD to develop pragmatic solutions for early detection and intervention of neurodevelopmental needs during a window of neurodevelopmental plasticity.
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Thangarajh M, Spurney CF, Gordish-Dressman H, et al Neurodevelopmental Needs in Young Boys with Duchenne Muscular Dystrophy (DMD): Observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS). PLoS Curr. 2018 Oct 17;10. pii:ecurrents.md.4cdeb6970e54034db2bc3dfa54b4d987.
