Abstract：
Spinal muscular atrophy (SMA) is a severe hereditary lower motor neuron disorder characterised by degeneration of alpha motor neurons in the spinal cord, resulting in progressive weakness and paralysis of proximal muscles. A systematic literature search was carried out by using PRISMA guidelines and searching through different databases that could provide findings of evidence on the health outcomes of the approved therapies for the management of paediatric SMA type 1 regarding efficacy with follow-up in terms of motor and respiratory functions and the tolerability and incidence of adverse drug reactions (ADRs) post-treatment from real-world publications. Half of the publications (50%) had a prospective observational design. Eight studies (66.7%) assessed nusinersen, and three studies (25%) assessed onasemnogene abeparvovec with a duration of follow-up ranging from 6 months to 3 years to evaluate the motor and respiratory functions using different assessment tools, hospitalisation rates, and the tolerability and incidence of ADRs post-treatment. The three currently approved treatments for SMA type 1 provided good support and health outcomes in terms of motor function, respiratory outcomes, reduction of hospitalisations, and improvement of survival. Nevertheless, uncertainties regarding continued improvement after long-term illness and the generalizability of results are still unknown.
摘要：
脊髓性肌萎缩症（SMA）是一种严重的遗传性下运动神经元疾病，其特征是脊髓中的α运动神经元变性，导致近端肌肉进行性无力和瘫痪。通过使用PRISMA指南并在不同的数据库中进行搜索，进行了系统的文献检索，这些数据库可以提供有关已批准的用于儿科SMA1型治疗的治疗方法的健康结果的证据，包括运动和呼吸功能方面的疗效随访以及来自现实世界出版物的治疗后药物不良反应（ADR）的耐受性和发生率。一半的出版物（50％）具有前瞻性观察性设计。八项研究（66.7％）评估了nusinersen，三项研究（25％）评估了asemnogeneabeparvovec，随访时间为6个月至3年，以使用不同的评估工具评估运动和呼吸功能。住院率,以及治疗后不良反应的耐受性和发生率。目前批准的三种SMA1型治疗方法在运动功能方面提供了良好的支持和健康结果。呼吸结果，减少住院治疗，和生存的改善。然而，关于长期患病后持续改善和结果的普遍性的不确定性仍然未知.
