Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Saco, Stockholm, Sweden.
Eur J Paediatr Neurol. 2019 May;23(3):347-356. doi: 10.1016/j.ejpn.2019.03.004. Epub 2019 Mar 21.
To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.
We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments.
Of 824 identified articles, 15 met study criteria. Included publications contained data derived from samples from a total of 11 countries and three continents (Europe, North America, and South America). Estimates of the latent trait, primarily derived using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and the PedsQL 3.0 Neuromuscular Module, indicated impairment in patient QoL, in particular physical functioning. However, both patient self- and caregiver proxy-assessments varied markedly across studies and subgroups. Among adult individuals, the mean self-assessed EuroQol-5D-3L utility has been estimated at 0.16 for a pooled sample of patients with SMA type I, II, and III, and -0.01 for SMA type II. Little is known of the impact of available treatments, including nusinersen, on patient QoL.
Our review show that QoL is impaired in SMA, mainly due to compromised physical health, but also reveal that little is known of the impact of the disease across different phenotypes and clinical interventions.
系统回顾脊髓性肌萎缩症（SMA）患者的生活质量（QoL）文献，SMA 是一种罕见的常染色体隐性神经肌肉疾病，发病率高，死亡率高。
我们在 Embase、Web of Science 和 PubMed 中检索了全文为英文的文章（发表于 2000 年 1 月 1 日至 2018 年 7 月 31 日），这些文章报告了 SMA 患者 QoL 的研究结果。我们排除了综述和社论文章、报告样本中包含 <5 名患者的研究（以允许进行有意义的推断）以及病例报告/定性评估。
在 824 篇已确定的文章中，有 15 篇符合研究标准。包含的出版物的数据来自来自 11 个国家和三个大洲（欧洲、北美和南美）的样本。对潜在特质的估计主要使用了儿科生活质量问卷（PedsQL）4.0 通用核心量表和 PedsQL 3.0 神经肌肉模块，表明患者 QoL 受损，特别是身体功能。然而，患者自我和照顾者代理评估在不同的研究和亚组之间差异很大。在成年个体中，SMA 型 I、II 和 III 患者的 pooled 样本中，平均自我评估的 EuroQol-5D-3L 效用值估计为 0.16，而 SMA 型 II 的为 -0.01。对于可用治疗方法（包括 nusinersen）对患者 QoL 的影响，知之甚少。
我们的综述表明，SMA 患者的 QoL 受损，主要是由于身体健康状况不佳，但也表明，对于不同表型和临床干预的疾病影响知之甚少。
