P.26 Motor and cognitive manifestations of young female carriers of Duchenne muscular dystrophy (DMD): a prospective natural history study

Abstract

Clinical manifestations of Duchenne muscular dystrophy (DMD) have been well documented. However, less is known about the impact of DMD gene mutations for young female carriers. This cross-sectional study seeks to address the gap in understanding of the impact of carrier status on motor skill and cognitive functioning during formative years of development. We examined the motor abilities and neuropsychological functioning of genetically confirmed female DMD carriers in childhood and adolescence. Age appropriate functional and motor outcome assessments were administered including the Neuromuscular Gross Motor Outcome (GRO), 100-meter timed test (100m), Performance of Upper Limb (PUL), and others. Additionally, we assessed intelligence, executive functioning, visual motor integration, behavioral functioning and emotional regulation using standardized testing. To date, 8 subjects have been enrolled, average 11.7 years of age (range: 5–17 years) through the Nationwide Children's Hospital clinics. Gross motor performance was variable across the full cohort ranging between 71–100% of total score on the GRO, 10-95% of average predicted performance on the 100m, and 85-100% of total score on the PUL. Fine motor behavior and visual-motor integration tests indicate this cohort may experience a higher rate of motor coordination deficit and fine motor slowing, as evidenced by performance on norm-referenced assessments including the Grooved Pegboard Test (z-scores range: -0.75 to -5.61; N=7) and Beery Visual Motor Integration Scale (percentiles range: 0.7 – 63; N=7). Individual and group performance on motor outcome assessments and cognitive performance in areas related to attention, organization, working memory, arithmetic/mathematics, and verbal fluency to be presented. Subject enrollment, data collection, and analysis is ongoing.