Molecular genetics and metabolism reports · 2026
Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis.
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Dealy Jian, Inbar-Feigenberg Michal
Аннотация
OBJECTIVES: We aimed to determine the impact of regular physiotherapy (PT) intervention, tailored to the individual needs and physical limitations of children with Mucopolysaccharidosis (MPS), on their function and quality of life (QoL).
DESIGN: Prospective longitudinal mixed methods study.
PARTICIPANTS: Eligible patients diagnosed with MPS followed in the Lysosomal Disease Clinic at our center.
INTERVENTION: Patients were seen for five regular physiotherapy visits over 12 months. Our clinic's physiotherapist designed a physiotherapy assessment form and created individualized home exercise programs (HEPs) for MPS patients.
OUTCOME MEASURES: Health-related quality of life was measured using the Pediatric Quality of Life Inventory™ (PedsQL). A descriptive analysis approach was used to identify trends in PedsQL survey data and physiotherapy outcomes.
RESULTS: 15 participants were enrolled; however, only 7 completed the entire study. Participants who completed at least two study visits demonstrated improved PedsQL™ scores between the first and last visits, except for one participant. The majority of participants who completed the entire study presented with stable or improved findings for function, strength, balance, range of motion, and pain.
CONCLUSION: We found that physiotherapy intervention is a safe adjunct to existing therapies and might allow children to maintain their functional status, decrease pain, and improve quality of life.
DESIGN: Prospective longitudinal mixed methods study.
PARTICIPANTS: Eligible patients diagnosed with MPS followed in the Lysosomal Disease Clinic at our center.
INTERVENTION: Patients were seen for five regular physiotherapy visits over 12 months. Our clinic's physiotherapist designed a physiotherapy assessment form and created individualized home exercise programs (HEPs) for MPS patients.
OUTCOME MEASURES: Health-related quality of life was measured using the Pediatric Quality of Life Inventory™ (PedsQL). A descriptive analysis approach was used to identify trends in PedsQL survey data and physiotherapy outcomes.
RESULTS: 15 participants were enrolled; however, only 7 completed the entire study. Participants who completed at least two study visits demonstrated improved PedsQL™ scores between the first and last visits, except for one participant. The majority of participants who completed the entire study presented with stable or improved findings for function, strength, balance, range of motion, and pain.
CONCLUSION: We found that physiotherapy intervention is a safe adjunct to existing therapies and might allow children to maintain their functional status, decrease pain, and improve quality of life.