Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children with Mucopolysaccharidosis

Abstract

The mucopolysaccharidosis (MPS) can lead to poor endurance and mobility, often associated with pain, restricted range of motion (ROM), low energy levels and fatigue, negatively affecting quality of life and activities of daily living. This study aimed to examine the impact of enzyme replacement therapy (ERT) on aerobic capacity, functional independence and quality of life in children with MPS and to determine the anxiety and depression levels of their caregivers. Study Design established in Cross sectional study. Twelve children aged 3 to 11 years were included in the study. The subjects were divided into two groups according to the use of ERT. Quality of life and functional independence were assessed using the Pediatric Quality of Life Inventory (PedsQL) and Functional Independence Measure for Children (WeeFIM). The 6-minute walk test (6MWT) and timed up and go test (TUG) were used to evaluate aerobic capacity. Anxiety and depression levels of parents were assessed using the Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI), respectively. A total of 12 MPS patients 7 boys (58.3%) and 5 girls (41.7%) with a mean age of 5.58±2.67 years were included in the study.1 patient had MPS type I, 2 patients had MPS type III, 5 patients had MPS type IV, and 4 patients had MPS type VI. Six patients were receiving ERT. The children had a mean 6MWT score of 330.83±114.29, a mean TUG score of 14.24±5.71 sec, a mean PedsQL score of 46.83±14.03 and a mean WeeFIM score of 70.83±26.85. Their caregivers had a mean BAI score of 19.25±10.95 and a mean BDI score of 19.41±6.81. A significant difference was found between the children receiving ERT and those not receiving in the WeeFIM scores (P<0.05); other parameters were comparable between the groups (P>0.05). ERT did not change aerobic capacity and quality of children with MPS but increased their level of functional independence. Multisystem involvement in MPS children may affect anxiety and depression levels of their caregivers but ERT does not seem to have any effect on this psychosocial aspect.