Quality of life of children with mucopolysaccharidoses on the background of enzyme replacement therapy

Abstract

Introduction. Mucopolysaccharidoses (MPSs) represent a group of rare lysosomal storage diseases, associated with the decline in life expectancy and impairing it’s quality. Despite prolonged evaluation of the effectiveness of pathogenic therapy, patient-reported outcomes are poorly defined. The aim of the study. To describe the impact of enzyme-replacement therapy (ERT) on the quality of life in MPS children, using parent-completed validated questionnaires. Materials and methods. Parents of forty five MPSs children (27 - with neuronopathic disease, 18- with non-neuronopathic disease, 31 among them were treated with ERT) completed parent proxy-report of Pediatric Quality of Life Inventory™ (PedsQL™) 4.0 Generic Core Scales. Parents of seventeen children (10 - with neuronopathic disease), treated with ERT, completed PedsQL™ 4.0 Generic Core Scales twice, parents of 7 children with non-neuronopathic disease, treated with ERT, completed Childhood Health Assessment Questionnare (CHAQ) and visual analogue scale (VAS) of pain and overall health status, parents of 10 children with neuronopathic disease, treated with ERT, completed VAS of pain and overall health status twice. Cross-sectional and dynamic analyses have been undertaken. Results. Stabilization and lack of significant improvement of functional disability, quality of life and VAS scores of pain and overall health status have been demonstrated. In 57% of patients with non-neuronopathic disease, treated with ERT, mean score of «School Functioning» decreased, in 80% of patients with neuronopathic disease, treated with ERT, mean score of «Physical Functioning» decreased. In 50% of children with neuronopathic disease and in 57% of children with non-neuronopathic disease, mean score of «Emotional Functioning» improved. Conclusion. MPS children, treated with ERT, require additional psychological and educational help, as well as regular motor rehabilitation.