Abstract
BackgroundIt has become increasingly important to measure the health-related quality of life (HRQoL) of rare diseases in children and adolescents in recent decades. Much attention has been paid to investigate the HROoL of a specific rare disease by self-report in previous studies. This study aimed to evaluate and compare the HROoL of 11 rare diseases in Chinese children by parent proxy-report, to explore the factors associated with HROoL of patients, and to understand the problems of most concern.MethodsA total of 651 children aged from 2 to 18 were enrolled from the Children’s Hospital Affiliated Zhejiang University in 2018. Their parents completed the parent proxy-report version of the Pediatric Quality of Life Inventory™ 4.0 (PedsQL™ 4.0). Independent samples t-test, one-way ANOVA, or Kruskal–Wallis H test was used to compare HROoL scores between groups. Multilevel linear regression models with random intercept were applied to analyze the relationship between socioeconomic variables and both the total score and subdomain scores.ResultsThe total PedsQL scores of Patent ductus arteriosus (PDA), Infantile agranulocytosis, Autoimmune thrombocytopenia (ITP), Polysyndactyly, Hirschsprung disease, Cleft lip and palate, Tetralogy of fallot, Myasthenia gravis, Guillain–barre syndrome, Glycogen storage disease, and Langerhans cell histiocytosis children were 79.65 ± 5.46, 95.88 ± 3.48, 71.39 ± 3.27, 91.77 ± 6.35, 76.18 ± 6.92, 96.33 ± 4.22, 77.85 ± 8.90, 95.99 ± 3.31, 85.77 ± 4.56, 82.97 ± 4.13 and 77.6 ± 5.15, respectively. Age was significantly associated with physical functioning, school functioning, and psychosocial health scores. The household registration place was significantly related to the total score. The most urgent desire of patients was to reduce the overall medical costs.ConclusionsThis study showed that patients with PDA had the lowest physical functioning score, while patients with ITP scored the lowest in the emotional functioning, social functioning, school functioning, psychosocial health, and total scores. Incentive policies should be further adopted to improve orphan drug availability and reduce the economic burden of rare diseases.
Highlights
It has become increasingly important to measure the health-related quality of life (HRQoL) of rare diseases in children and adolescents in recent decades
The present study demonstrated that Patent ductus arteriosus (PDA) had the lowest score in the physical functioning, ITP scored the lowest in the emotional functioning, social functioning, school functioning, psychosocial health and total score
Sood et al summarized that the average scores of physical functioning, psychosocial health and total score measured by parent proxy-report version of PedsQLTM 4.0 for 11–18 year patients with Hirschsprung disease were 89.17 (SD = 14.40), 82.53 (SD = 17.61) and 84.84 (SD = 14.91), respectively [8], which were higher the results revealed by the current study and Collins [37] who reported that the psychosocial health score of children with Hirschsprung disease aged between 2 and 10 years was significantly less than the healthy control group
Summary
It has become increasingly important to measure the health-related quality of life (HRQoL) of rare diseases in children and adolescents in recent decades. Most rare diseases are the result of small genetic changes and can severely impair physical, emotional, and mental abilities. These disabilities can decrease the quality of life considerably and cause a tremendous burden on the affected families and health care systems [7]. It has become increasingly important to measure the health-related quality of life (HRQoL) of rare diseases in children and adolescents. Generic instruments and disease-specific instruments may be applied to measure HRQoL in children and adolescents with the same rare diseases [8]. There is a paucity in the literature documenting differences in HRQoL among different rare diseases
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