Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam—Part 2: Experience from a nusinersen clinical study

: 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. Methods: 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. Results: 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. Conclusion: Results support the use of the HINE‐2 motor milestone assessment in clinical trials of SMA infants. Muscle Nerve 57 : 143–146, 2017