Nutritional Therapy in Children With Spinal Muscular Atrophy in the Era of Nusinersen.

Abstract

Spinal muscular atrophy (SMA) is a genetic motor neuron disorder characterized by progressive muscle atrophy. Our aims were to evaluate the impact of nutritional intervention and nusinersen therapy on the nutritional status of SMA patients. This prospective study included all children and young adults (<24 years of age) with SMA who attended our multidisciplinary SMA clinic, during January 2017-July 2019. We documented demographic, clinical, anthropometric, and nutritional data at baseline and follow-up. A nutritional intervention was implemented according to standards of the 2018 Consensus Statement of SMA Management. The cohort included 51 SMA patients with a median age of 7.2 (interquartile range 2.1-15.3) years. Among them, 24 (47%) were SMA type 1, 16 (31.4%) SMA type 2, and 11 (21.6%) SMA type 3 patients. At baseline, 28 (54.9%) patients presented with malnutrition, 20 (71.4%) of whom with severe malnutrition. A decline in the frequency of severe malnutrition of SMA type 1 patients was observed at follow-up. The body mass index of patients who started nusinersen therapy after the nutritional intervention increased significantly compared with patients that started nusinersen therapy before the nutritional intervention (P = 0.042). There was also a significant increase in total energy and protein consumption in the former group (P = 0.043). Malnutrition is frequent among children with SMA, and the nutritional status of patients that started nusinersen therapy after implementation of a nutritional intervention underwent a more significant improvement. The importance of combining adequate nutritional management with disease-modifying treatment is highlighted.