Al Amrani Fatima, Amin Reshma, Chiang Jackie, Xiao Lena, Boyd Jennifer, Law Eugenia, Nigro Elisa, Weinstock Lauren, Stosic Ana, Gonorazky Hernan D
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
Neurol Clin Pract. 2022 Aug;12(4):279-287. doi: 10.1212/CPJ.0000000000001179.
The introduction of spinal muscular dystrophy (SMA)-modifying therapies, such as antisense oligonucleotide therapy, has changed the natural history of SMA. Most reports on treatment outcomes have focused on motor scores and respiratory function. The objective of this study is to document the development and progression of scoliosis in patients with SMA1 treated with nusinersen.
A descriptive single-center study was conducted in patients with SMA1 who were treated with nusinersen before 6 months of age. Data were collected on patients who met criteria, including age at the first nusinersen dose, number of nusinersen doses, degree of scoliosis, respiratory parameters, feeding route, and motor scores at baseline and follow-up. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) was subanalyzed using axial (AxS) and appendicular motor (ApS) scores to evaluate a possible correlation between scoliosis and axial muscle strength.
From our cohort, 31 percent (11/35) of patients had a diagnosis of SMA1. Sixty-three percent (7/11) met the inclusion criteria. All patients (7/7) showed initial improvement in their CHOP-INTEND scores in correlation with improvement on the ApS. Despite this, most patients did not show improvement in the AxS. Subsequently, all patients developed scoliosis in the first year of life with Cobb angles that ranged between 18° and 60°. Furthermore, total CHOP-INTEND scores had dropped in 2 patients alongside the development of a Cobb angle of >40°.
Despite the significant improvement in functional motor assessment in patients with SMA1, there is a progression of significant scoliosis despite treatment. Subsequently, lack or minimal improvement on the axial CHOP-INTEND scores may predict worsening on the total motor scores.
脊髓性肌萎缩症（SMA）修正疗法的引入，如反义寡核苷酸疗法，改变了SMA的自然病程。大多数关于治疗结果的报告都集中在运动评分和呼吸功能上。本研究的目的是记录接受诺西那生治疗的1型SMA患者脊柱侧弯的发展和进展情况。
对6个月龄前接受诺西那生治疗的1型SMA患者进行了一项描述性单中心研究。收集符合标准患者的数据，包括首次使用诺西那生剂量时的年龄、诺西那生剂量数、脊柱侧弯程度、呼吸参数、喂养途径以及基线和随访时的运动评分。使用轴向（AxS）和肢体运动（ApS）评分对费城儿童医院神经肌肉疾病婴儿测试（CHOP-INTEND）进行亚分析，以评估脊柱侧弯与轴向肌肉力量之间的可能相关性。
在我们的队列中，31%（11/35）的患者被诊断为1型SMA。63%（7/11）符合纳入标准。所有患者（7/7）的CHOP-INTEND评分最初均有改善，与ApS的改善相关。尽管如此，大多数患者的AxS并未改善。随后，所有患者在生命的第一年都出现了脊柱侧弯，Cobb角在18°至60°之间。此外，2例患者的Cobb角>40°时，CHOP-INTEND总分下降。
尽管1型SMA患者的功能性运动评估有显著改善，但尽管接受了治疗，严重脊柱侧弯仍在进展。随后，轴向CHOP-INTEND评分缺乏改善或改善甚微可能预示着总运动评分会恶化。
