• Giorgia Coratti, Jacopo Lenkowicz, Maria Carmela Pera, Adele D'Amico, Claudio Bruno, Consolato Gullì, Noemi Brolatti, Marina Pedemonte, Laura Antonaci, Martina Ricci, Anna Capasso, Gianpaolo Cicala, Costanza Cutrona, Roberto de Sanctis, Sara Carnicella, Nicola Forcina, Michela Cateruccia, Maria Beatrice Damasio, Luca Labianca, Francesca Manfroni, Antonio Leone, Enrico Bertini, Marika Pane, Stefano Patarnello, Vincenzo Valentini, and Eugenio Mercuri.
• Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
• J. Neurol. Neurosurg. Psychiatr. 2024 Feb 14; 95 (3): 235240235-240.

BackgroundType II spinal muscular atrophy (SMA) often leads to scoliosis in up to 90% of cases. While pharmacological treatments have shown improvements in motor function, their impact on scoliosis progression remains unclear. This study aims to evaluate potential differences in scoliosis progression between treated and untreated SMA II patients.MethodsTreatment effect on Cobb's angle annual changes and on reaching a 50° Cobb angle was analysed in treated and untreated type II SMA patients with a minimum 1.5-year follow-up. A sliding cut-off approach identified the optimal treatment subpopulation based on age, Cobb angle and Hammersmith Functional Motor Scale Expanded at the initial visit. Mann-Whitney U-test assessed statistical significance.ResultsThere were no significant differences in baseline characteristics between the untreated (n=46) and treated (n=39) populations. The mean Cobb angle variation did not significantly differ between the two groups (p=0.4). Optimal cut-off values for a better outcome were found to be having a Cobb angle <26° or an age <4.5 years. When using optimal cut-off, the treated group showed a lower mean Cobb variation compared with the untreated group (5.61 (SD 4.72) degrees/year vs 10.05 (SD 6.38) degrees/year; p=0.01). Cox-regression analysis indicated a protective treatment effect in reaching a 50° Cobb angle, significant in patients <4.5 years old (p=0.016).ConclusionThis study highlights that pharmacological treatment, if initiated early, may slow down the progression of scoliosis in type II SMA patients. Larger studies are warranted to further investigate the effectiveness of individual pharmacological treatment on scoliosis progression in this patient population.© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.

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