Background: Type 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. Methods: Treatment 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. Results: There 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). Conclusion: This 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.

Coratti, G., Lenkowicz, J., Pera, M. C., D'Amico, A., Bruno, C., Gulli, C., Brolatti, N., Pedemonte, M., Antonaci, L., Ricci, M., Capasso, A., Cicala, G., Cutrona, C., De Sanctis, R., Carnicella, S., Forcina, N., Cateruccia, M., Damasio, M. B., Labianca, L., Manfroni, F., Leone, A., Bertini, E. S., Pane, M., Patarnello, S., Valentini, V., Mercuri, E. M., Early treatment of type II SMA slows rate of progression of scoliosis, <<JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY>>, 2023; (September): 1-6. [doi:10.1136/jnnp-2023-332084] [https://hdl.handle.net/10807/260235]

Early treatment of type II SMA slows rate of progression of scoliosis

Coratti, Giorgia;Lenkowicz, Jacopo;Pera, Maria Carmela;Antonaci, Laura;Capasso, Anna;Cutrona, Costanza;De Sanctis, Roberto;Labianca, Luca;Bertini, Enrico Silvio;Pane, Marika;Mercuri, Eugenio Maria
2023

Abstract

Background: Type 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. Methods: Treatment 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. Results: There 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). Conclusion: This 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.
2023
Inglese
Coratti, G., Lenkowicz, J., Pera, M. C., D'Amico, A., Bruno, C., Gulli, C., Brolatti, N., Pedemonte, M., Antonaci, L., Ricci, M., Capasso, A., Cicala, G., Cutrona, C., De Sanctis, R., Carnicella, S., Forcina, N., Cateruccia, M., Damasio, M. B., Labianca, L., Manfroni, F., Leone, A., Bertini, E. S., Pane, M., Patarnello, S., Valentini, V., Mercuri, E. M., Early treatment of type II SMA slows rate of progression of scoliosis, <<JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY>>, 2023; (September): 1-6. [doi:10.1136/jnnp-2023-332084] [https://hdl.handle.net/10807/260235]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/260235
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact