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 (P0.05). 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.
Highlights
Mucopolysaccharidosis (MPS) is a rare, inherited lysosomal storage disease characterized by accumulation of glycosaminoglycan (GAG) in tissues as a result of deficiency of lysosomal enzymes
Patients refusing to participate in the study, patients without a definite diagnosis and patients, parents who did not cooperate with the study tests, patients who have had surgical operations on upper and lower extremities and who have already had physical therapy were excluded from the study
Four children who did not meet age criteria were excluded from the study
Summary
Mucopolysaccharidosis (MPS) is a rare, inherited lysosomal storage disease characterized by accumulation of glycosaminoglycan (GAG) in tissues as a result of deficiency of lysosomal enzymes. It occurs in approximately 1 in 25,000 live births and 7 distinct forms of MPS have been identified (Zhou et al, 2020). MPS causes chronic, progressive systemic disorders due to enzyme deficiency. Individuals with MPS may develop obstructive respiratory disorders such as obstructive sleep apnea due to narrowing of the airways, especially in the upper respiratory tract, as a result of GAG accumulation. Cardiovascular disorders may be seen and as with other systemic conditions, cardiovascular symptoms are progressive and have a significant impact on the aerobic capacity of the patients (Mohan et al, 2002). The accumulation of glycosaminoglycans in the central nervous system may cause mental and neurocognitive effects and neuropathy may develop due to spinal cord compression arising from spinal canal stenosis due to
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