A Retrospective Cohort Study of Nutrition Outcomes in Children With Spinal Muscular Atrophy Type 1 and 2 Treated With Disease Modifying Therapies

INTRODUCTION/AIMS: Few studies have investigated nutrition as a primary outcome of disease modifying therapy (DMT) in spinal muscular atrophy (SMA). This study aimed to describe nutrition outcomes of DMT in children with SMA 1 and 2. METHODS: Children ≤ 18 years old with SMA 1 or 2 treated with DMTs, and untreated children with SMA 1 were included. Retrospective data (anthropometry, feeding, dietetic intervention) were collected from medical records for their duration of care in a tertiary pediatric neuromuscular clinic. Data were analyzed descriptively and reported as median (interquartile range) or percentages. RESULTS: Seventeen treated and 19 untreated children with SMA 1 and 23 treated children with SMA 2 were included. Age (months) at DMT initiation was 3.8 (1.8, 8.7) and 60.3 (28.5, 127.5) for children with SMA 1 and 2 respectively. SMA 1: At 6 months old, weight z-score was -0.25 (-1.21, 0.07, n = 7) for treated and -2.67 (-3.09, 0.13, n = 7) for untreated children. Tube feeding was initiated in 82% treated and 89% untreated children; time to initiation (months) was 16.2 for treated children and 6.6 for untreated children. Three treated children ceased tube feeding after 0.6-19 months. SMA 2: Nutrition outcomes were described over 4 years of DMT. All were orally fed. Minimal changes were observed in weight z-score trajectories or feeding. DISCUSSION: Nutrition outcomes were improved in treated children with SMA 1 and stable in treated children with SMA 2. Regular dietetic assessment and intervention remain integral to SMA care. Prospective studies are required.