Exploring the Influence of Concurrent Nutritional Therapy on Children with Spinal Muscular Atrophy Receiving Nusinersen Treatment
Eymen Pinar,
Bilal Berke Ayvaz,
Erkan Akkus,
Ipek Ulkersoy,
Tugce Damla Dilek,
Yilmaz Zindar,
Fitnat Ulug,
Aysel Guzeler,
Huseyin Kilic,
Serhat Guler,
Omer Faruk Beser,
Sema Saltik,
Fugen Cullu Cokugras
Affiliations
Eymen Pinar
Department of Pediatrics, Cerrahpasa Medical Faculty, Pediatrics, Istanbul University, Istanbul 34000, Turkey
Bilal Berke Ayvaz
Department of Pediatrics, Cerrahpasa Medical Faculty, Pediatrics, Istanbul University, Istanbul 34000, Turkey
Erkan Akkus
Division of Pediatric Gastroenterelogy, Hepatology and Nutrition, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Ipek Ulkersoy
Division of Pediatric Gastroenterelogy, Hepatology and Nutrition, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Tugce Damla Dilek
Division of Pediatric Neurology, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Yilmaz Zindar
Division of Pediatric Neurology, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Fitnat Ulug
Division of Pediatric Neurology, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Aysel Guzeler
Division of Pediatric Neurology, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Huseyin Kilic
Division of Pediatric Neurology, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Serhat Guler
Division of Pediatric Neurology, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Omer Faruk Beser
Division of Pediatric Gastroenterelogy, Hepatology and Nutrition, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Sema Saltik
Division of Pediatric Neurology, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
Fugen Cullu Cokugras
Division of Pediatric Gastroenterelogy, Hepatology and Nutrition, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul 34000, Turkey
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.
