Pinar Eymen, Ayvaz Bilal Berke, Akkus Erkan, Ulkersoy Ipek, Dilek Tugce Damla, Zindar Yilmaz, Ulug Fitnat, Guzeler Aysel, Kilic Huseyin, Guler Serhat, Beser Omer Faruk, Saltik Sema, Cullu Cokugras Fugen
Department of Pediatrics, Cerrahpasa Medical Faculty, Pediatrics, Istanbul University, Istanbul 34000, Turkey.
Division of Pediatric Gastroenterelogy, Hepatology and Nutrition, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey.
Children (Basel). 2024 Jul 23;11(8):886. doi: 10.3390/children11080886.
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 ( = 0.015). Conversely, BMI scores decreased from 0.08 to -0.54 ( = 0.015), while WFH and MUAC showed no significant alterations ( = 0.135, = 0.307). Following nutritional interventions, HFMSE demonstrated a median increase from 29.5 to 30.5 ( = 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, = 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.
背景 本研究探讨脊髓性肌萎缩症（SMA），这是一种与营养不良相关的神经肌肉疾病。我们的目标是评估筛查工具检测营养不良的有效性，并评估营养干预对神经学结局，特别是运动功能的影响。方法 本研究纳入了37例接受诺西那生治疗的基因诊断SMA患者（1型、2型和3型）。在研究前后，通过人体测量学指标评估这些患者的营养状况，包括年龄别身高（HFA）、身高别体重（WFH）和体重指数（BMI）。此外，使用筛查工具，即儿科约克希尔营养不良评分（PYMS）和儿科营养不良评估筛查工具（STAMP）来确定营养不良风险。营养咨询遵循欧洲儿科胃肠病学、肝病学和营养学会（ESPGHAN）指南，并考虑患者的饮食史，包括内容和给药方法。通过经过验证的测试评估运动功能：费城儿童医院婴儿神经肌肉疾病测试（CHOP-INTEND）和哈默史密斯功能运动量表扩展版（HFMSE）。结果 研究显示HFA有所改善，从-0.95变为-0.65（P = 0.015）。相反，BMI评分从0.08降至-0.54（P = 0.015），而WFH和上臂围（MUAC）无显著变化（P = 0.135，P = 0.307）。营养干预后，HFMSE的中位数从29.5增加到30.5（P = 0.023）。根据PYMS和STAMP被确定为营养不良高风险的患者属于中重度营养不良组（BMI Z评分≤-2，P = 0.001）。结论 在SMA患者中使用筛查工具对早期发现营养不良非常有益。未来的研究应强调将营养管理与诺西那生治疗相结合的重要性，以潜在地改变疾病轨迹，特别是在运动和神经功能方面。
