From the Ear Institute (N.K., D.-E.B.), Stroke Research Centre (D.W.), Department of Brain Repair and Rehabilitation, Queen Square Institute of Neurology (A.A.M.), and Department of Statistical Science (M.P.), University College London; and National Institute for Health and Care Research (N.K., D.-E.B.), University College London Hospitals Biomedical Research Centre (Deafness and Hearing Problems Theme), London; Southampton School of Medicine (A.A.M.), University of Southampton, UK.
Neurology. 2022 Nov 7;99(19):e2201-e2211. doi: 10.1212/WNL.0000000000201115.
Infratentorial superficial siderosis (iSS) is a rare but disabling neurologic condition characterized by progressive hearing loss and balance and mobility problems. The functional decline in these neurologic domains with iSS progression is likely to adversely affect health-related quality of life (HRQoL). We studied the HRQoL of adults with iSS using 2 common generic HRQoL measures (Health Utilities Index Mark III [HUI3] and EuroQoL EQ5D [5 Level]) to determine the most affected domains and evaluate the association between HRQoL scores and disease duration.
This observational study was an anonymous online survey. Following institutional Research Ethics Committee approval, we contacted dedicated international organizations, charities, and patient groups identified through online searches, social media, and collaborative networks, to distribute the study information and study link, inviting their members diagnosed with iSS to participate. Participation required access to a digital device connected to the Internet, confirmation of eligibility (aged 18 years and older and previously diagnosed with iSS), and informed consent to participate in the survey, which included study-specific questions (demographics, iSS, and hearing) and HRQoL questionnaires. Survey responses were captured by the Research Electronic Data Capture survey software and analyzed using the SPSS statistical package. Linear regression analysis was performed to investigate the association between HRQoL scores and disease duration.
Of 50 participants, 60% were male; the median (interquartile range [IQR]) age was 60 (15) years. The median (IQR) multiattribute scores for HUI3 and EQ5D were 0.36 (0.53) and 0.64 (0.33), respectively. The most frequently affected domains (moderate or worse category) were hearing (64%) and pain (48%) for HUI3 and mobility (54%) and pain (50%) for EQ5D. There was a weak association between disease duration and multiattribute scores for HUI3 (R = 0.353; adjusted R = 0.096; b = -0.008; = 0.047) but not EQ5D.
Our findings demonstrate low HRQoL scores that capture low functional status in several domains typically affected in iSS, suggesting that iSS has a major adverse effect on quality of life in multiple functional domains. Measures of HRQoL in iSS should be included in clinical and research settings, including treatment trials.
颅后窝表面铁沉积症（iSS）是一种罕见但致残的神经系统疾病，其特征为进行性听力损失以及平衡和活动能力问题。随着 iSS 的进展，这些神经系统领域的功能下降可能会对健康相关生活质量（HRQoL）产生不利影响。我们使用两种常见的通用 HRQoL 测量工具（健康效用指数 Mark III [HUI3] 和 EuroQoL EQ5D [5 水平]）来研究 iSS 成人的 HRQoL，以确定受影响最严重的领域，并评估 HRQoL 评分与疾病持续时间之间的关联。
这是一项观察性研究，采用匿名在线调查。在获得机构研究伦理委员会批准后，我们联系了专门的国际组织、慈善机构和通过在线搜索、社交媒体和合作网络确定的患者团体，以分发研究信息和研究链接，邀请他们组织中符合条件的 iSS 患者参与。参与需要使用连接到互联网的数字设备，确认符合条件（年龄在 18 岁及以上且之前被诊断患有 iSS）并同意参与调查，调查包括特定于研究的问题（人口统计学、iSS 和听力）和 HRQoL 问卷。调查回复由 Research Electronic Data Capture 调查软件捕获，并使用 SPSS 统计软件包进行分析。线性回归分析用于研究 HRQoL 评分与疾病持续时间之间的关联。
在 50 名参与者中，有 60%为男性；中位（四分位距 [IQR]）年龄为 60（15）岁。HUI3 的多属性评分中位数（IQR）为 0.36（0.53），EQ5D 的中位数（IQR）为 0.64（0.33）。HUI3 中受影响最严重的领域（中度或更差类别）是听力（64%）和疼痛（48%），而 EQ5D 中受影响最严重的领域是活动能力（54%）和疼痛（50%）。疾病持续时间与 HUI3 的多属性评分之间存在弱关联（R = 0.353；调整后的 R = 0.096；b = -0.008； = 0.047），但与 EQ5D 无关联。
我们的研究结果表明，HRQoL 评分较低，表明 iSS 在多个功能领域对生活质量有重大不利影响。应在临床和研究环境中包括 iSS 的 HRQoL 测量，包括治疗试验。
