nusinersen and Developmental-Disabilities

In this study we examined the feasibility of assessing motor milestone performance of infants with spinal muscular atrophy (SMA) using the Hammersmith Infant Neurological Exam-Part 2 (HINE-2) in a phase 2 study of nusinersen.. Nineteen SMA infants were assessed using the HINE-2 at baseline (≤7 months of age), and periodically up to 39 months of age. We evaluated whether the HINE-2 was feasible, reliable, and sensitive to change.. Motor milestone assessments in SMA infants were feasible using the HINE-2. Baseline test-retest reliability was excellent (R = 0.987; P < 0.0001). SMA infants were extremely low functioning at baseline and the HINE-2 was able to detect changes over time in 16 of 19 infants within all 8 domains. HINE-2 improvements were correlated with changes in other neuromuscular outcome measures.. Results support the use of the HINE-2 motor milestone assessment in clinical trials of SMA infants. Muscle Nerve 57: 143-146, 2017.

Topics: Child, Preschool; Developmental Disabilities; Disease Progression; Female; Humans; Infant; Male; Movement; Neurologic Examination; Observer Variation; Oligonucleotides; Reference Standards; Reproducibility of Results; Sensitivity and Specificity; Spinal Muscular Atrophies of Childhood