Analysis of the disease burden of rare disorders among children: a single-center study from western China

Abstract Objective To analyze the disease profiles and associated burdens of hospitalized children with rare disorders. Study design: Clinical data of 1,975 children hospitalized with rare disorders from 2012 to 2018 at a single medical center in western China were retrospectively analyzed. A family-structured questionnaire survey was conducted on 200 children with 10 of these diseases, capturing demographic information, family economic status, disease costs, compliance behavior, outpatient and inpatient service use, and the psychological burden of parents. Results: The male-to-female ratio among the children was 1.71:1. The majority were infants and children aged 0–3 years (43.75%), and predominantly from urban areas (74.03%). In total, 48 rare disorders, classified into 10 types, were identified. Diseases of the blood and hematopoietic organs, and certain disorders involving immune mechanisms, were the most prevalent type (31.04%). Significant differences were observed in the duration of hospital stays and treatment and examination costs for different rare childhood disorders (P < 0.001). Circulatory diseases incurred the highest overall hospitalization costs, whereas diseases of the blood and hematopoietic organs, and immune mechanism disorders had the highest treatment costs (72.19%). Endocrine, nutritional, and metabolic diseases accounted for the highest examination costs (57.32%). Conclusion: Rare disorders in children are highly variable, with complex disease characteristics, underscoring the need for individualized medical approaches for diagnosis and treatment. Enhanced genetic counseling and eugenics guidance, improved health insurance policies, structured diagnosis and treatment strategies, and emphasis on the psychological well-being of affected families can help reduce the disease burden.