Quality of life evaluation in patients with mucopolysaccharidosis using PedsQL

Mucopolysaccharidosis (MPS) is a rare and neglected disorder. Only a few studies to date have focused on humanistic impacts of the disease, particularly health-related quality of life (HRQOL). The objective of our research is to (1) evaluate HRQOL in Brazilian patients with MPS and (2) assess the validity of the PedsQL 4.0 Generic Core Scales (PedsQL) in this specific disease. We performed an analytical cross-sectional study using the Brazilian Portuguese version of the PedsQL in 22 patients with MPS between the ages of 8 and 21. With regard to assessing the validity of the PedsQL for MPS, we evaluated internal consistency using Cronbach's α coefficient and reliability using the Spearman-Brown estimate of agreement. The mean HRQOL score in our sample was 63.6 points. The worst score was obtained in the Psychosocial domain (61.9) on account of interference with school (56.1), while the Physical Health domain had the highest score (67.6). The total PedsQL internal consistency was .764 points. The Physical Health domain obtained the highest internal consistency (.914), whereas the Psychosocial Health domain obtained the lowest one (.754). MPS was demonstrated to decrease HRQOL, and PedsQL seems to be a valid instrument to perform this kind of analysis.