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

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