Characterize neurocognitive development disorders in DMD

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. The authors describe the neurodevelopmental needs in a large cohort of young boys with DMD from the DMD Natural History Study (DNHS). They explore the association between neurodevelopmental needs and DMD mutation location, and with glucocorticoid use. They prospectively evaluated 204 participants between ages 4 to less than 9 years of age with DMD as part of a large, longitudinal, international DNHS. They obtained parent- or primary care-giver report of neurodevelopmental needs as part of their study visit. They assessed the relationship between parent/care-giver neurodevelopmental needs and DMD mutation location, and glucocorticoid use.

The neurodevelopmental needs that were most commonly reported included speech delay (33%), mild developmental delay (24%), significant behavioral problems (16.5%), language impairment (14.5%), learning disability (14.5%), attention-deficit hyperactivity disorder (5%) and autism spectrum disorder (3%). Neurodevelopmental needs were more commonly reported by care-givers in those with DMD mutations downstream of exon 51. There was no relationship between care-giver reported neurodevelopmental needs and glucocorticoid use.

Neurodevelopmental needs are highly prevalent in young boys with DMD. Care-givers report higher neurodevelopmental needs when subjects have DMD mutations downstream of exon 51. Early interventions aimed at cognitive health are critical to improve the quality-of-life of individuals with DMD.

 

Neurodevelopmental Needs in Young Boys with Duchenne Muscular Dystrophy (DMD): Observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS). Thangarajh M., Spurney CF., Gordish-Dressman H., Clemens PR., Hoffman EP., McDonald CM., Henricson EK., Investigators C. PLoS Curr. 2018 Oct 17;10.

 

On clinicaltrials.gov NCT00468832