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

NEUROPSYCHIATRY PAEDIATRIC NEUROLOGY SPINAL MUSCULAR ATROPHY

Journal

Journal of neurology, neurosurgery, and psychiatry
ISSN: 1468-330X
Titre abrégé: J Neurol Neurosurg Psychiatry
Pays: England
ID NLM: 2985191R

Informations de publication

Date de publication:
22 Sep 2023
Historique:
received: 26 06 2023
accepted: 05 09 2023
medline: 23 9 2023
pubmed: 23 9 2023
entrez: 22 9 2023
Statut: aheadofprint

Résumé

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. 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. 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). 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.

Sections du résumé

BACKGROUND 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 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 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 CONCLUSIONS
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.

Identifiants

pubmed: 37739783
pii: jnnp-2023-332084
doi: 10.1136/jnnp-2023-332084
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: GC, MCP, AD'A, MP, RdS, MC, EB, MP and EM have been a consultant for BIOGEN S.R.L. which owns patent rights to nusinersen of which data from patients in treatment were used in this study. GC, MCP, AD'A, MP, RdS, MC, EB, MP and EM have been a consultant for ROCHE which owns patent rights to risdiplam of which data from patients in treatment were used in this study.

Auteurs

Giorgia Coratti (G)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Jacopo Lenkowicz (J)

Gemelli Generator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Maria Carmela Pera (MC)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Adele D'Amico (A)

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.

Claudio Bruno (C)

Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Consolato Gullì (C)

Department of Radiological and Hematological Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Noemi Brolatti (N)

Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Marina Pedemonte (M)

Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Laura Antonaci (L)

Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Martina Ricci (M)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Anna Capasso (A)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Gianpaolo Cicala (G)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Costanza Cutrona (C)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.

Roberto de Sanctis (R)

Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Sara Carnicella (S)

Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Nicola Forcina (N)

Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Michela Cateruccia (M)

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.

Maria Beatrice Damasio (MB)

Department of Radiology, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Luca Labianca (L)

Department of Trauma and Orthopaedics, University of Rome La Sapienza, Rome, Italy.

Francesca Manfroni (F)

Division of traumatology, spine surgery unit, Department of surgery and transplant, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.

Antonio Leone (A)

Department of Radiological and Hematological Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Enrico Bertini (E)

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.

Marika Pane (M)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.

Stefano Patarnello (S)

Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Vincenzo Valentini (V)

Department of Bioimaging Radiation Oncology and Hematology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica S. Cuore, Roma, Italy.

Eugenio Mercuri (E)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy eugeniomaria.mercuri@unicatt.it.
Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

Classifications MeSH