We performed a prospective, cross-sectional analysis of neurodevelopmental concerns and psychosocial adjustment in relation to DMD mutations in young steroid-naïve boys with dystrophinopathy.

Study measures and Study-related questionnaires

Parents or legal guardians completed study-related review-of-systems during the first study visit. Specifically, the subject’s medical history included age (in months) at which the subject began to speak in full sentences, speech delay (yes, no, unknown) and learning difficulties (yes, no or unknown). A parent or legal guardian completed the following questionnaires during the study subject’s screening visit: IOWA Conners scale for ADHD, and PARS-III questionnaire for psychosocial adjustment.

We observed that 39% of boys were reported to have speech delay with a mean age of speaking of 28 months (range 7 to 66 months). Learning difficulties were reported in 28% of subjects. Inattentive-overactive (IO) and oppositional-defiant (OD) behavior was reported in 8% and 5% of subjects, respectively. Psychosocial adjustment challenges were reported in 4% of subjects. Speech delay, learning difficulties and OD behavior were more common in boys with mutations downstream of DMD exon 45. Boys of DMD carrier mothers did not have longer speech delay or more learning difficulties.