@article{article_1732522, title={Multisystemic Evaluation in Pediatric Spinal Muscular Atrophy: Linking Biochemical Markers to Functional Outcomes and Family Quality of Life}, journal={Medical Journal of Western Black Sea}, volume={9}, pages={249–254}, year={2025}, DOI={10.29058/mjwbs.1732522}, author={Yıldız, Nihal and Acar Arslan, Elif and Özkan Kart, Pınar and Kamasak, Tulay and Şahin, Sevim and Cansu, Ali}, keywords={İmmünoglobulin, multidisipliner bakım, Spinal müsküler atrofi, vitamin D düzeyi, yaşam kalitesi}, abstract={Aim: Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder requiring a multidisciplinary approach. This study aimed to investigate the clinical, biochemical, and immunological parameters in pediatric SMA patients and to explore their potential associations with quality of life. Material and Methods: In this study, 16 genetically confirmed SMA patients aged 2–18 years were evaluated. Data on hematologic and biochemical profiles, including vitamin B12, 25-OH-vitamin D3, and immunoglobulin levels, were recorded. The PedsQL™ 3.0 Neuromuscular Module was administered to assess quality of life. Results: The cohort included 8 patients with SMA type 1, 5 with type 2, and 3 with type 3. Seven (43.75%) were females, with a mean age of 93±60 months. The mean follow-up period was 36±5 months. Serum vitamin B12 values were 271±66ng/L, and 25-OH-D3 vitamin values were 21.14±12.9μg/L. Immunoglobulin (Ig) G levels of 5 (31.25%) were below the normal range for their ages. When SMAtype1, SMA type2, and 3 groups were compared, there was no difference in vitamin B12, vitamin D, and IgE levels. Hemoglobin and transferrin saturation were significantly lower in SMA type 1 patients(p <0.05). According to the quality of life assessment of SMA type 2 and 3 patients reported greater financial concerns. All children who completed the questionnaire had similarly low scores. While a decrease in vitamin D level was associated with lower CHOP scores, the relationship was not statistically significant. Conclusion: Even in small cohorts, periodic evaluation of immune and nutritional parameters may reveal clinically relevant findings in SMA. These factors, along with tailored support for families, should be considered in long-term multidisciplinary management}, number={2}, publisher={Zonguldak Bülent Ecevit Üniversitesi}