Health-related Quality of Life among Children Living with Rare Diseases in China: a Nationwide Study

Abstract A large proportion of rare diseases (RDs) manifest in childhood, posing substantial physical and psychosocial burden on pediatric populations. This study aims to evaluate the health-related quality of life (HRQoL) and associated factors among children living with RDs across key age groups in China. A nationwide cross-sectional survey was conducted on 9,110 infants and children diagnosed with 28 different RDs in China in 2019–2020. The survey collected socio-demographic and disease-related factors of children and family-related factors such as parental wellbeing, and family functioning. HRQoL of children was measured by parent proxy-report version of the Pediatric Quality of Life Inventory™ 4.0 generic core scales or Infant Scales. Multivariable regression analysis was used to identify factors associated with children’s physical, psychosocial, and overall HRQoL. Substantially impaired HRQoL was observed across all domains, particularly for those with Huntington’s disease, mucopolysaccharidosis and Dravet syndrome. Lower HRQoL was associated with older age, male sex, lower socio-economic status, worse parental wellbeing and family functioning, lack of treatment, diagnostic delays, comorbidities, and higher disease severity. The findings suggest that RDs impose substantial negative impacts on Chinese children’s physical and psychosocial wellbeing. Efforts are needed to improve diagnosis and treatment accessibility. Targeted psychosocial support and family-centered strategies are needed to mitigate burdens on this vulnerable group.