Landfeldt Erik, Leibrock Berenike, Hussong Justine, Thiele Simone, Walter Maggie C, Moehler Eva, Zemlin Michael, Dillmann Ulrich, Flotats-Bastardas Marina
IQVIA, Stockholm, Sweden.
Department of Medicine, University of Saarland, Saarbruecken, Germany.
Patient Relat Outcome Meas. 2025 Jun 27;16:93-103. doi: 10.2147/PROM.S517362. eCollection 2025.
The objective of this pilot study was to examine the agreement between child self- and parent proxy-assessment of health-related quality of life (HRQoL) in spinal muscular atrophy (SMA) in the era of disease-modifying therapy.
Children with SMA and one of their parents were recruited via the German national TREAT-NMD SMA patient registry. HRQoL was measured using the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module (PedsQL 3.0 NMM), KIDSCREEN-27, and the Health Utilities Index (HUI). Agreement between child self- and parent proxy-ratings of ordinal measures was estimated using Cohen's κ, and for continuous measures using intraclass correlation coefficients (ICCs) from one-way random-effects models.
The final sample comprised 17 children with SMA (mean age: 9.88 years, SD: 4.33 years, range: 5-16 years; 59% female) and one of their parents. All but two patients (88%) were receiving disease-modifying therapy (nusinersen or risdiplam). The ICC for the total PedsQL 3.0 NMM score was estimated at 0.85 (95% CI: 0.64-0.94, p < 0.001) (indicative of excellent agreement). The corresponding estimate for the KIDSCREEN total score was 0.27 (95% CI: 0.00-0.75, p = 0.197) (poor/fair agreement) and the global HUI utility 0.98 (95% CI: 0.93 to 0.9952, p < 0.001) (excellent agreement). The lowest levels of concordance were found for school and family life, as well as mental well-being, as opposed to physical functioning and disability.
We show that the agreement between child self- and parent proxy-reports of HRQoL in SMA varies markedly across HRQoL measures and examined domains, ranging from poor/fair to excellent. Compared with previous research, agreement for the PedsQL 3.0 NMM was markedly higher in our contemporary cohort of patients treated with novel therapies. These preliminary findings will be helpful in informing the design of future research of HRQoL in SMA.
本初步研究的目的是在疾病修饰治疗时代，检验脊髓性肌萎缩症（SMA）患儿自我评估与家长代理评估的健康相关生活质量（HRQoL）之间的一致性。
通过德国国家TREAT-NMD SMA患者登记处招募SMA患儿及其一名家长。使用儿童生活质量量表3.0神经肌肉模块（PedsQL 3.0 NMM）、儿童筛查量表27（KIDSCREEN-27）和健康效用指数（HUI）测量HRQoL。使用Cohen's κ估计序数测量的儿童自我评分与家长代理评分之间的一致性，对于连续测量，使用单向随机效应模型的组内相关系数（ICC）。
最终样本包括17名SMA患儿（平均年龄：9.88岁，标准差：4.33岁，范围：5 - 16岁；59%为女性）及其一名家长。除两名患者外（88%），所有患者均接受疾病修饰治疗（诺西那生或利司扑兰）。PedsQL 3.0 NMM总分的ICC估计值为0.85（95%置信区间：0.64 - 0.94，p < 0.001）（表明一致性极佳）。KIDSCREEN总分的相应估计值为0.27（95%置信区间：0.00 - 0.75，p = 0.197）（一致性差/一般），全球HUI效用为0.98（95%置信区间：0.93至0.9952，p < 0.001）（一致性极佳）。与身体功能和残疾情况相比，学校和家庭生活以及心理健康方面的一致性水平最低。
我们表明，SMA患儿自我报告与家长代理报告的HRQoL之间的一致性在不同的HRQoL测量方法和所考察的领域中差异显著，从差/一般到极佳不等。与先前的研究相比，在我们接受新型疗法治疗的当代患者队列中，PedsQL 3.0 NMM的一致性明显更高。这些初步发现将有助于为未来SMA患者HRQoL研究的设计提供参考。
