Physical therapy eases pain, improves life for Sanfilippo kids: Study
Programs need to be individually tailored to ensure success, researchers say
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Physical therapy (PT) appears to be safe for children with Sanfilippo syndrome and other types of mucopolysaccharidosis (MPS), and may help maintain function, ease pain, and support quality of life, according to a small study.
However, the researchers said, many families were unable to attend all scheduled therapy sessions, underscoring the need to tailor therapy plans to the realities of caregiving and the complex medical needs of these patients.
“Regular [physical therapy] intervention is likely beneficial for all children with [Sanfilippo syndrome and related disorders],” the researchers wrote. “The frequency of follow-up visits should be tailored to meet the individual needs of each patient and their family to optimize outcomes and quality of life.”
The study, “Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis,” was published in Molecular Genetics and Metabolism Reports.
MPS encompasses a group of rare genetic disorders caused by defects in enzymes needed to break down certain sugar molecules. Sanfilippo syndrome, or MPS type 3, is marked by a deficiency in enzymes necessary to degrade heparan sulfate, which causes this complex sugar molecule to build to toxic levels in the body. The disease primarily affects the brain and nervous system, but it can also involve motor difficulties that may benefit from supportive care.
Family, medical needs interfere with therapy schedules
PT involves guided exercises designed to maintain mobility, reduce pain, and support daily functioning. While it is commonly recommended for children with neurodevelopmental conditions, data on its long-term benefits in MPS remain limited.
In this study, researchers in Canada aimed to assess the potential impact of a PT intervention in 15 children with different types of MPS, including three with Sanfilippo syndrome.
Participants were scheduled to attend five PT sessions over about one year, with assessments of function and quality of life conducted throughout. However, fewer than half the families attended all planned sessions. Among those affected by Sanfilippo, none attended more than three sessions.
“Caregivers of children with [Sanfilippo syndrome] were motivated and engaged during PT sessions in our study; however, other medical appointments, caregiving for siblings, and pandemic-related circumstances contributed to inconsistent follow-through,” the researchers wrote.
Despite these challenges, children’s quality of life remained stable or improved from the first PT session to the last session they attended. For those who completed at least two sessions, measures of function, range of motion, balance, and strength were also stable or improved after the sessions. Pain was similarly stabilized or eased.
No safety issues related to physical therapy were reported.
Given the small sample size and inconsistent attendance, the findings are limited. Still, they suggest that regular PT may offer supportive benefits for children with MPS, including those with Sanfilippo syndrome. The researchers emphasized that therapy plans should be individualized and flexible, accounting for each family’s circumstances.
“Regardless of MPS subtype, the authors believe that all children with MPS would benefit from being connected with a physiotherapist to monitor strength and [range of motion], supporting optimal function given the multi-system nature of the disease,” the researchers wrote, noting that, “PT interventions should focus on pain management, functional mobility and activity endurance.”
