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 (p = 0.015). Conversely, BMI scores decreased from 0.08 to -0.54 (p = 0.015), while WFH and MUAC showed no significant alterations (p = 0.135, p = 0.307). Following nutritional interventions, HFMSE demonstrated a median increase from 29.5 to 30.5 (p = 0.023). Patients identified as being at high risk for malnutrition based on PYMS and STAMP belonged to the moderate-to-severe malnutrition group (BMI Z-score ≤ -2, p = 0.001). Conclusions Use of screening tools in SMA patients is highly beneficial for the early detection of malnutrition. Future research should highlight the importance of combining nutritional management with nusinersen therapy to potentially alter the disease trajectory, especially in motor and neurological functions.
Keywords: PYMS; STAMP; malnutrition; motor functions; nutritional intervention; screening tools.