Quality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment.

IF 3.2 Q2 CLINICAL NEUROLOGY
Bogdana Cavaloiu, Iulia-Elena Simina, Lazar Chisavu, Crisanda Vilciu, Iuliana-Anamaria Trăilă, Maria Puiu
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Abstract

Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the responsible genetic mutations and the variability in its manifestations make it a significant research focus. This prospective cross-sectional descriptive study evaluated health-related quality of life (HRQoL) across eight health domains in 43 Romanian SMA patients treated with nusinersen, using the SF-36 questionnaire to analyze influencing factors. The survey was conducted online with informed consent, and the data were analyzed using MedCalc software, employing both parametric and non-parametric statistical tests for accurate interpretation. The results revealed significant variations in HRQoL. Most patients were non-ambulatory (74.4%), reflecting SMA's impact on mobility. Urban residents reported better outcomes, particularly in physical functioning (p = 0.014), which may be attributed to improved access to healthcare services. Younger participants (under 14), represented by proxy responses, noted better general health (p = 0.0072) and emotional well-being (p = 0.0217) compared to older participants. These findings suggest that younger patients or their proxies perceive a better health status, highlighting the need for age-specific approaches in SMA management and the potential optimistic bias associated with proxy reporting on perceived health outcomes.

接受奴西那生治疗的罗马尼亚脊髓肌肉萎缩症患者的生活质量评估
脊髓性肌萎缩症(SMA)早在一个多世纪前就已发现,其特征是严重的肌肉萎缩和早期死亡。尽管脊髓性肌萎缩症十分罕见,但其致病基因突变的高携带率及其表现形式的多变性使其成为一个重要的研究焦点。这项前瞻性横断面描述性研究采用 SF-36 问卷分析了影响因素,评估了 43 名接受奴西那生治疗的罗马尼亚 SMA 患者在八个健康领域的健康相关生活质量 (HRQoL)。调查是在知情同意的情况下在线进行的,数据使用 MedCalc 软件进行分析,并采用参数和非参数统计检验进行准确解释。结果显示,患者的 HRQoL 存在明显差异。大多数患者无法行走(74.4%),这反映了 SMA 对行动能力的影响。城市居民报告的结果较好,尤其是在身体功能方面(p = 0.014),这可能归因于医疗保健服务的改善。与年长的参与者相比,以代理回复为代表的年轻参与者(14 岁以下)的总体健康状况(p = 0.0072)和情绪健康状况(p = 0.0217)更好。这些研究结果表明,年轻患者或其代理人认为自己的健康状况更好,这凸显了在 SMA 管理中采用特定年龄方法的必要性,以及代理人报告所感知的健康结果可能存在的乐观偏差。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neurology International
Neurology International CLINICAL NEUROLOGY-
CiteScore
3.70
自引率
3.30%
发文量
69
审稿时长
11 weeks
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