Erik Landfeldt, Berenike Leibrock, Justine Hussong, Simone Thiele, Sophia Abner, Maggie C Walter, Eva Moehler, Michael Zemlin, Ulrich Dillmann, Marina Flotats-Bastardas
{"title":"脊髓性肌肉萎缩症患儿自述的健康相关生活质量:来自德国全国患者登记处的初步见解。","authors":"Erik Landfeldt, Berenike Leibrock, Justine Hussong, Simone Thiele, Sophia Abner, Maggie C Walter, Eva Moehler, Michael Zemlin, Ulrich Dillmann, Marina Flotats-Bastardas","doi":"10.3233/JND-230071","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is a rare, severely debilitating neuromuscular disease characterized by a wide spectrum of progressive muscular atrophy and weakness.</p><p><strong>Objectives: </strong>The objective of this pilot study was to estimate self-assessed health-related quality of life (HRQoL) of children with SMA.</p><p><strong>Methods: </strong>Children with SMA were recruited via the German national TREAT-NMD SMA patient registry and asked to self-complete the following rating-scales: KIDSCREEN-27, KINDL, the PedsQL 3.0 Neuromuscular Module (PedsQL 3.0 NMM), EQ-5D-5L, and the Health Utilities Index (HUI). Estimates were stratified by current best motor function of the lower limb and trunk (i.e., non-sitter, sitter, and walker) and SMA type (i.e., type I, II, and III).</p><p><strong>Results: </strong>In total, 17 children with SMA (mean age: 9.88 years, SD: 4.33 years, range: 5-16 years; 59% female) participated in the study. Across examined strata, the mean KIDSCREEN-27 total score was estimated at between 48.24 and 83.81; the mean KINDL total score at between 60.42 and 76.73; the mean PedsQL 3.0 NMM total score at between 58.00 and 83.83; the mean EQ-5D-5L utility at between 0.31 and 0.99; and the mean HUI-derived utility at between -0.02 and 0.96.</p><p><strong>Conclusions: </strong>The results from this pilot study show that German children with SMA, despite significant physical disability, have surprisingly good HRQoL as assessed using KIDSCREEN-27. Yet, many reside in health states associated with low utility. The disease burden was generally higher among non-sitters compared with walkers, and SMA type I compared with type III, but more research is needed to further delineate this variability. Our preliminary findings contribute to the understanding of HRQoL in pediatric patients with SMA and should be helpful to inform the design of future studies of this patient population.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.2000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789359/pdf/","citationCount":"0","resultStr":"{\"title\":\"Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.\",\"authors\":\"Erik Landfeldt, Berenike Leibrock, Justine Hussong, Simone Thiele, Sophia Abner, Maggie C Walter, Eva Moehler, Michael Zemlin, Ulrich Dillmann, Marina Flotats-Bastardas\",\"doi\":\"10.3233/JND-230071\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is a rare, severely debilitating neuromuscular disease characterized by a wide spectrum of progressive muscular atrophy and weakness.</p><p><strong>Objectives: </strong>The objective of this pilot study was to estimate self-assessed health-related quality of life (HRQoL) of children with SMA.</p><p><strong>Methods: </strong>Children with SMA were recruited via the German national TREAT-NMD SMA patient registry and asked to self-complete the following rating-scales: KIDSCREEN-27, KINDL, the PedsQL 3.0 Neuromuscular Module (PedsQL 3.0 NMM), EQ-5D-5L, and the Health Utilities Index (HUI). Estimates were stratified by current best motor function of the lower limb and trunk (i.e., non-sitter, sitter, and walker) and SMA type (i.e., type I, II, and III).</p><p><strong>Results: </strong>In total, 17 children with SMA (mean age: 9.88 years, SD: 4.33 years, range: 5-16 years; 59% female) participated in the study. Across examined strata, the mean KIDSCREEN-27 total score was estimated at between 48.24 and 83.81; the mean KINDL total score at between 60.42 and 76.73; the mean PedsQL 3.0 NMM total score at between 58.00 and 83.83; the mean EQ-5D-5L utility at between 0.31 and 0.99; and the mean HUI-derived utility at between -0.02 and 0.96.</p><p><strong>Conclusions: </strong>The results from this pilot study show that German children with SMA, despite significant physical disability, have surprisingly good HRQoL as assessed using KIDSCREEN-27. Yet, many reside in health states associated with low utility. The disease burden was generally higher among non-sitters compared with walkers, and SMA type I compared with type III, but more research is needed to further delineate this variability. 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引用次数: 0
摘要
背景:脊髓性肌萎缩症(SMA脊髓性肌萎缩症(SMA)是一种罕见、严重致残的神经肌肉疾病,其特征是广泛的进行性肌肉萎缩和无力:本试验性研究的目的是评估SMA患儿自我评估的健康相关生活质量(HRQoL):方法:通过德国国家 TREAT-NMD SMA 患者登记处招募 SMA 儿童,要求他们自我填写以下评分量表:KIDSCREEN-27、KINDL、PedsQL 3.0 神经肌肉模块(PedsQL 3.0 NMM)、EQ-5D-5L 和健康效用指数(HUI)。根据目前下肢和躯干的最佳运动功能(即非坐姿、坐姿和步行)和 SMA 类型(即 I 型、II 型和 III 型)进行分层估算:共有 17 名 SMA 患儿(平均年龄:9.88 岁,SD:4.33 岁,年龄范围:5-16 岁;59% 为女性)参加了研究。在所有接受检查的分层中,KIDSCREEN-27 总分的平均值估计在 48.24 和 83.81 之间;KINDL 总分的平均值估计在 60.42 和 76.73 之间;PedsQL 3.0 NMM 总分的平均值估计在 58.00 和 83.83 之间;EQ-5D-5L 实用性的平均值估计在 0.31 和 0.99 之间;HUI 衍生实用性的平均值估计在 -0.02 和 0.96 之间:这项试点研究的结果表明,德国 SMA 患儿尽管有严重的肢体残疾,但在 KIDSCREEN-27 评估的 HRQoL 方面却出人意料地好。然而,许多儿童的健康状况与低效用有关。与步行者相比,不坐立者的疾病负担普遍较重;与 III 型 SMA 患者相比,I 型 SMA 患者的疾病负担普遍较重。我们的初步研究结果有助于人们了解 SMA 儿童患者的 HRQoL,并有助于设计未来针对该患者群体的研究。
Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.
Background: Spinal muscular atrophy (SMA) is a rare, severely debilitating neuromuscular disease characterized by a wide spectrum of progressive muscular atrophy and weakness.
Objectives: The objective of this pilot study was to estimate self-assessed health-related quality of life (HRQoL) of children with SMA.
Methods: Children with SMA were recruited via the German national TREAT-NMD SMA patient registry and asked to self-complete the following rating-scales: KIDSCREEN-27, KINDL, the PedsQL 3.0 Neuromuscular Module (PedsQL 3.0 NMM), EQ-5D-5L, and the Health Utilities Index (HUI). Estimates were stratified by current best motor function of the lower limb and trunk (i.e., non-sitter, sitter, and walker) and SMA type (i.e., type I, II, and III).
Results: In total, 17 children with SMA (mean age: 9.88 years, SD: 4.33 years, range: 5-16 years; 59% female) participated in the study. Across examined strata, the mean KIDSCREEN-27 total score was estimated at between 48.24 and 83.81; the mean KINDL total score at between 60.42 and 76.73; the mean PedsQL 3.0 NMM total score at between 58.00 and 83.83; the mean EQ-5D-5L utility at between 0.31 and 0.99; and the mean HUI-derived utility at between -0.02 and 0.96.
Conclusions: The results from this pilot study show that German children with SMA, despite significant physical disability, have surprisingly good HRQoL as assessed using KIDSCREEN-27. Yet, many reside in health states associated with low utility. The disease burden was generally higher among non-sitters compared with walkers, and SMA type I compared with type III, but more research is needed to further delineate this variability. Our preliminary findings contribute to the understanding of HRQoL in pediatric patients with SMA and should be helpful to inform the design of future studies of this patient population.
期刊介绍:
The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.