Mathula Thangarajh, MD
Virginia Commonwealth University, Richmond, VA
2016 ANF Development Grant
Project Title
Cognition in Duchenne Muscular Dystrophy
Project Summary
Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy, affecting 1 in 3,500 boys, and is caused by mutations in DMD gene located on the X chromosome. Boys present in early childhood with delay in acuquisition of motor milestones. There is also striking cognitive co-morbidity in these boys including speech delay, learning difficulties, and attention-hyperactivity. Of particular importance, core cognitive skills are often weak in DMD. Some of the core cognitive skills are potential targets for intervention. Indeed, children with sickle-cell anemia and childhood cancer survivors show improvement in salient cognitive skills following computer-based cognitive intervention. Therefore, cognitive intervention may be potentially useful to improve cognitive skills in DMD. Mitigating cognitive co-morbidity in boys with DMD will help them attain their full human potential and improve their quality of life. There is an urgency to address this unmet medical need, as the life-expectancy of boys with DMD has increased, and it is our collective responsibility to help emerging adults with DMD more capably meet their social, emotional, and financial milestones of adulthood.