Health-Related Quality of Life in Adults With Classical Infratentorial Superficial Siderosis: A Cross-sectional Study

BACKGROUND AND OBJECTIVES: 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. METHODS: 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. RESULTS: 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(2) = 0.096; b = −0.008; p = 0.047) but not EQ5D. DISCUSSION: 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.