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

Area of Science:

• Pediatric Health
• Rare Diseases
• Quality of Life Research

Background:

• Rare diseases (RDs) frequently emerge in childhood, creating significant physical and psychosocial challenges for affected children.
• Understanding the health-related quality of life (HRQoL) in pediatric rare disease populations is crucial for developing effective support strategies.

Purpose of the Study:

• To assess the HRQoL and identify associated factors among children with rare diseases across various age groups in China.
• To provide insights into the specific challenges faced by different rare diseases and age cohorts.

Main Methods:

• A nationwide cross-sectional survey involving 9,110 infants and children with 28 different RDs in China (2019-2020).
• Data collection included socio-demographic, disease-related, and family factors (parental wellbeing, family functioning).
• HRQoL was measured using parent proxy-report scales (PedsQL™ 4.0 Generic Core/Infant Scales); multivariable regression analyzed associated factors.

Main Results:

• Substantially impaired HRQoL was prevalent across all domains, with notable impacts in Huntington's disease, mucopolysaccharidosis, and Dravet syndrome.
• Negative HRQoL associations included older age, male sex, lower socioeconomic status, poor parental wellbeing, lack of treatment, diagnostic delays, comorbidities, and higher disease severity.
• Impaired physical and psychosocial HRQoL was observed, underscoring the broad impact of RDs.

Conclusions:

• Rare diseases significantly diminish the physical and psychosocial wellbeing of children in China.
• Urgent improvements in diagnosis and treatment accessibility are necessary.
• Targeted, family-centered psychosocial support is essential to alleviate the burden on this vulnerable pediatric population.