Abstract
ABSTRACTObjective: The health-related quality of life (HRQoL), clinical status and perceived burden of disease in children and adolescents with Gaucher Disease (GD) were assessed.Method: A Spanish multicenter collaboration study involving 13 hospitals was performed to evaluate pediatric patients with GD (n = 17, ages 5–18; n = 3, ages 2–4) and their parents (n = 20) using a HRQoL measure (PedsQL 4.0) and a survey on the perceived burden of the disease. Three children under five years old were evaluated by parent proxy-report. Relevant medical and socio-demographical characteristics were recorded.Results: Sixty-nine percent of the participants with GD had mild and 31% had moderate severity level, all receiving enzyme replacement therapy (ERT). HRQoL was associated with the severity score index and was adjusted for age. Age was related to school functioning (older patients had lower scores), and female patients reported worse school functioning than males. Symptoms such as bone, joint or abdominal pain, bleeding, and fatigue were negatively associated with HRQoL. Perceptions of the burden related to GD, such as feeling ill and feeling sad, were negatively associated with HRQoL. Although the PedsQL scores of children and parents showed concordance, patterns of association between symptoms and perceived burden differed between children and parents. No associations were observed between HRQoL scores and time on ERT or ERT dosage.Conclusion: HRQoL perceptions were affected by clinical status, observable and subjective symptoms, feelings of burden related to the disease, and patient characteristics (e.g. age and gender). Aspects of the disease that affect HRQoL may be perceived differently by children and parents.
Highlights
Gaucher Disease (GD) is rare, genetic metabolic disorder that affects 1 in 149,000 individuals in the Iberian Peninsula, similar to that of other European populations
Questionnaires with no invasive measures were not being evaluated by the ethics committee at our university, the proposal was submitted and approved, regarding quality and ethics, by the Spanish Group of Pediatric Experts on Gaucher Disease
A group of medical professionals following children and adolescent patients with GD from 13 hospitals in Spain were contacted to participate in the study
Summary
Gaucher Disease (GD) is rare, genetic metabolic disorder that affects 1 in 149,000 individuals in the Iberian Peninsula, similar to that of other European populations GD is the most common lysosomal storage disorder and results from a specific enzyme deficiency in the body that is caused by a genetic mutation in the gene encoding the lysosomal enzyme acid beta glucosidase (Deroma et al, 2013). This disease is classified into 3 clinically recognized types based on the presence and degree of nervous system involvement. The most common symptoms include enlargement of the liver and spleen, anemia, reduced platelets (resulting in easy bruising and long clotting times), bone pain, bone infarctions that often lead to damage of the shoulder or hip joints, and generalized bone demineralization (osteoporosis). The weakening of the bones can subsequently lead to spontaneous fractures (Milligan, Hughes, Goodwin, Richfield, & Mehta, 2006)
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