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Musculoskeletal function in patients with mucopolysaccharidosis using the pediatric outcomes data collection
Adam O'Brien1, Viviana Bompadre, Susan Hale
1Departments of *Surgery §Orthopaedics and Sports Medicine, University of Washington †Department of Orthopedics and Sports Medicine ‡Department of Pediatrics, Division of Biochemical Genetics, Seattle Children's Hospital, Seattle, WA.
Insights
Mucopolysaccharidosis (MPS) patients show limited musculoskeletal function, with significant differences across MPS types. This study provides normative data for the Pediatric Outcomes Data Collection Instrument (PODCI) in MPS.
Area of Science:
- Pediatric orthopedics
- Rare genetic disorders
- Musculoskeletal health
Background:
- Musculoskeletal impairment significantly impacts quality of life for individuals with mucopolysaccharidosis (MPS).
- The Pediatric Outcomes Data Collection Instrument (PODCI) is a validated, accessible tool for assessing pediatric musculoskeletal disorders.
- Establishing normative PODCI data for MPS patients is crucial for understanding functional limitations.
Purpose of the Study:
- To establish normative data for the PODCI in patients diagnosed with various types of MPS.
- To assess and compare musculoskeletal function across different subtypes of MPS using the PODCI.
Main Methods:
- Utilized PODCI assessments on 16 pediatric patients with MPS (MPS IH, II, IV, VI) at initial evaluation.
- Employed Kruskal-Wallis test to analyze differences in PODCI scores among MPS IH, II, and IV patient groups.
Main Results:
- MPS patients generally scored below average on most PODCI domains compared to typically developing children.
- A statistically significant difference in upper extremity and physical function scores was observed among MPS subtypes (P = 0.02).
- MPS IV patients demonstrated better function than MPS IH, while MPS II patients had the lowest scores; MPS VI patient had the highest.
Conclusions:
- This study highlights the significant musculoskeletal functional limitations in patients with MPS, varying by diagnosis.
- The established PODCI normative data offers a foundational understanding and objective measure for future MPS research and intervention studies.
Background:
Musculoskeletal function is often the limiting factor in quality of life in patients with mucopolysaccharidosis (MPS). The Pediatric Outcomes Data Collection Instrument (PODCI) is a validated tool to be used in children aged 2 to 18 years with chronic musculoskeletal disorders and is freely available to any investigator. The goal of this study is to establish normative data for patients with MPS.
Methods:
Of our 25 patients with MPS, 16 had PODCI's performed at initial evaluation. This included 4 patients with MPS IH (Hurler), 7 patients with MPS II (Hunter), 4 patients with MPS IV (Morquio), and 1 patient with MPS VI (Maroteaux-Lamy). Differences in PODCI scores among children with MPS IH (Hurler), II (Hunter), and IV were estimated using a Kruskal-Wallis test.
Results:
With the exception of upper extremity and physical functioning function in MPS IV, all domains for our MPS patients measured below average for typically developing children. We found a statistically significant difference among the groups in the upper extremity and physical function scale [H (2) = 8.16, P = 0.02]. The single MPS VI patient had the highest scores overall. MPS IV patients scored better than the MPS IH patients, and the MPS II patients scored lowest.
Conclusions:
This study demonstrates the limited musculoskeletal function in patients with MPS and the differences among different MPS diagnoses.
Clinical Relevance:
The data establishes a basic understanding of musculoskeletal function in patients with MPS and should provide comparative data for future studies in which musculoskeletal function is measured as an objective outcome. It can also serve as a better objective measure for interventions, as previous models have only served as proxies to musculoskeletal function.
