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It has been reported that in patients with spinal muscular atrophy (SMA), lower levels of motor function are associated with hyperleptinemia. Additionally, hyperleptinemia has been found to be more frequent in underweight SMA patients. Therefore, we aimed to analyze serum leptin levels in patients with SMA.
This was a cross-sectional study of pediatric patients (2–19 years old) with SMA types 2 and 3. The investigations included anthropometric measurements, assessment of pubertal status, motor function evaluation using the Hammersmith Functional Motor Scale – Expanded (HFMSE), and serum leptin levels.
In total, 37 patients (22 with type 2 and 15 with type 3 SMA) were included in the study. The male-to-female ratio was 1:1.3 and 62.2% of patients were prepubertal. No statistically significant correlation was found between the HFMSE score and leptin levels, rs(35) = 0.24, p = 0.15. There was, however, a strong positive relationship between the body mass index (BMI) z-score and leptin levels, rs(35) = 0.87, p < 0.001.
Serum leptin levels do not seem to be a useful marker of disease severity in children and adolescents with types 2 and 3 SMA. As in the general pediatric population, leptin levels are strongly correlated with BMI, which is a surrogate measure of body fat.Le texte complet de cet article est disponible en PDF.
Keywords : Spinal muscular atrophy, Leptin, Motor activity, Child, Adolescent
| ✰The present work was part of a broader study of cardiac and metabolic abnormalities in pediatric patients with SMA types 2 and 3 that formed the basis for the first author's doctoral thesis. Our previously published articles are referenced in the manuscript.