Clinical burden and health-related quality of life in Chinese patients with mucopolysaccharidosis type II under 16 years

This study assessed the health-related quality of life (HRQoL) of Chinese patients with mucopolysaccharidosis type II (MPS II) and explored key factors associated with HRQoL. A cross-sectional survey was conducted in February 2023 through the China Rare Disease Alliance Cloud Service Platform, in which patients with MPS II and their family members completed an online questionnaire collecting information on Pediatric Quality of Life (PedsQL) Version 4.0 scores, sociodemographic characteristics, and clinical features. Descriptive statistics were used to summarize patient characteristics and HRQoL levels, and multiple linear and logistic regression analyses were performed to identify factors influencing HRQoL. Data were obtained from 129 individuals across 22 regions in China, the majority of whom were boys (98%) with a mean age of 8.7 years. Initial symptoms appeared at approximately 2.5 years of age, yet diagnosis was often delayed by more than one year, and over half of the children (57%) had previously received an incorrect diagnosis. On average, nearly ten body systems were affected. Overall HRQoL was low, with a mean score of 30.08 (standard deviation (SD) = 19.51). Domain-specific scores were 30.98 for daily activities, 43.18 for emotional well-being, 24.73 for social functioning, and 20.89 for school participation, indicating substantial difficulties in performing routine tasks. Multiple linear regression (adjusted R 2 = 0.381) showed that HRQoL significantly declined with increasing age (β = −2.000, P = 0.003) and the presence of neurological or cognitive impairments (β = −12.798, P < 0.001), whereas school attendance was a strong positive predictor of higher HRQoL (β = 16.330, P < 0.001). Overall, Chinese patients with MPS II demonstrated markedly reduced HRQoL, particularly in cognitive and daily functioning domains, underscoring the need for improved clinical management and supportive strategies to enhance their well-being. • HRQoL was assessed among Chinese pts with MPS II using the PedsQL4.0 scale. • The mean HRQoL score was 30.08, indicating overall poor QoL in this population. • Physical, emotional, social, and school domains all showed low PedsQL sub-scores. • Age, education, and neurocognitive issues significantly affected pts’HRQoL. • Findings provide evidence to guide HRQoL improvement strategies for MPS II pts.