Multisystemic Evaluation in Pediatric Spinal Muscular Atrophy: Linking Biochemical Markers to Functional Outcomes and Family Quality of Life

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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

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