Exploring the Influence of Concurrent Nutritional Therapy on Children with Spinal Muscular Atrophy Receiving Nusinersen Treatment.

Background This study examines spinal muscular atrophy (SMA), a neuromuscular disease associated with malnutrition. Our goals are to assess how effectively screening tools can detect malnutrition and evaluate the impact of nutritional interventions on neurological outcomes, particularly motor functions. Methods Thirty-seven genetically diagnosed SMA patients (types 1, 2, and 3) under nusinersen therapy were included in the study. The nutritional status of these patients was assessed by using anthropometric measurements, including height for age (HFA), weight for height (WFH), and body mass index (BMI) before and after the study. Additionally, the risk of malnutrition was determined using screening tools, namely the Pediatric Yorkhill Malnutrition Score (PYMS) and the Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP). Nutritional counseling followed the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines and considered the patients' dietary history, including content and administration method. Motor functions were assessed by validated tests: the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Hammersmith Functional Motor Scale-Expanded (HFMSE). Result The study showed an improvement in HFA, by a change from -0.95 to -0.65 (