Quality of life (qol) in children and adolescents with mucopolysaccharidosis

Objective: To assess quality of life (QOL) of children and adolescents with mucopolysaccharidosis, seen at a treatment center for innate errors in metabolism in Recife-PE. Method: Descriptive, cross-sectional study with a quantitative and analytical approach. The instrument (Peds-QL) was applied to caregivers of children and adolescents with Mucopolysaccharidosis. Quality of life scores were correlated with numerical variables (Pearson's correlation coefficient) and median scores associated with clinical and sociodemographic variables (Kruskall Walls test). Results: 29 patients were included in the study, of these 8 had a diagnosis of mucopolysaccharidosis II and 21 with Mucopolysaccharidosis VI. Children (2-10 years) had better QoL scores in physical capacity and total QOL (p = 0.008; p = 0.033) when compared to adolescents (> 10 to <18 years). Participants with Mucopolysaccharidosis VI had better QOL scores in physical (p = 0.042) and psychosocial (p = 0.003) aspects compared to those with Mucopolysaccharidosis II. Individuals diagnosed earlier had better QOL scores (r = -0.54; p = 0.003). Conclusion: it is important to raise the awareness of the scientific community about the advent of rare diseases. Mucopolysaccharidosis, when diagnosed early, allows treatment to begin sooner, minimizes complications and in this study was shown to guarantee better QOL scores.