{"title":"Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?","authors":"Niyazi Erdem Yasar, Guzelali Ozdemir, Elif Uzun Ata, Mustafa Okan Ayvali, Naim Ata, Mahir Ulgu, Ebru Dumlupınar, Suayip Birinci, Izzet Bingol, Senol Bekmez","doi":"10.1177/18632521241235028","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear.</p><p><strong>Methods: </strong>In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation.</p><p><strong>Results: </strong>Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration (<i>r</i> = 0.539, <i>p</i> = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age (<i>r</i> = 0.361) or the time of first nusinersen dose (<i>r</i> = 0.39) was not significant (<i>p</i> = 0.076 and <i>p</i> = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores.</p><p><strong>Conclusion: </strong>Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.</p>","PeriodicalId":56060,"journal":{"name":"Journal of Childrens Orthopaedics","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144372/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Childrens Orthopaedics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/18632521241235028","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"ORTHOPEDICS","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear.
Methods: In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation.
Results: Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration (r = 0.539, p = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age (r = 0.361) or the time of first nusinersen dose (r = 0.39) was not significant (p = 0.076 and p = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores.
Conclusion: Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.
期刊介绍:
Aims & Scope
The Journal of Children’s Orthopaedics is the official journal of the European Paediatric Orthopaedic Society (EPOS) and is published by The British Editorial Society of Bone & Joint Surgery.
It provides a forum for the advancement of the knowledge and education in paediatric orthopaedics and traumatology across geographical borders. It advocates an increased worldwide involvement in preventing and treating musculoskeletal diseases in children and adolescents.
The journal publishes high quality, peer-reviewed articles that focus on clinical practice, diagnosis and treatment of disorders unique to paediatric orthopaedics, as well as on basic and applied research. It aims to help physicians stay abreast of the latest and ever-changing developments in the field of paediatric orthopaedics and traumatology.
The journal welcomes original contributions submitted exclusively for review to the journal. This continuously published online journal is fully open access and will publish one print issue each year to coincide with the EPOS Annual Congress, featuring the meeting’s abstracts.