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Related Experiment Videos

Physical performance testing in mucopolysaccharidosis I: a pilot study.

Helene M Dumas1, Maria A Fragala, Stephen M Haley

  • 1Research Center for Children with Special Health Care Needs, Franciscan Hospital for Children, Bostan MA 02135, USA. hdumas@fchrc.org

Pediatric Rehabilitation
|June 19, 2004
PubMed
Summary

A new physical performance measure for Mucopolysaccharidosis I (MPS I) shows individuals with MPS I have significant arm, leg, and endurance deficits. This tool can detect functional limitations and track changes over time.

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Area of Science:

  • Rare genetic disorders
  • Biomedical engineering
  • Clinical assessment

Background:

  • Mucopolysaccharidosis I (MPS I) is a rare genetic disorder affecting multiple organ systems.
  • Limited standardized measures exist to assess physical function in individuals with MPS I.
  • Understanding physical performance deficits is crucial for patient management and intervention.

Purpose of the Study:

  • To develop and field-test a physical performance measure (MPS-PPM) for individuals with MPS I.
  • To assess the feasibility and sensitivity of the MPS-PPM in a pilot study.
  • To establish a baseline for evaluating functional changes in MPS I patients.

Main Methods:

  • Developed motor performance and endurance items based on literature and expert feedback.

Related Experiment Videos

  • Created a standardized testing protocol for the MPS-PPM, including Arm Function, Leg Function, and Endurance sub-tests.
  • Collected pilot data from 10 subjects (ages 5-29) and analyzed correlations with age and disease severity.

    • Main Results:

    • The MPS-PPM detected significant physical performance deficits in individuals with MPS I.
    • Increasing age correlated with greater physical performance severity and lower scores in Leg Function and Endurance.
    • Many subjects could not complete all items, indicating limitations in arm and leg function and endurance.

    Conclusions:

    • Individuals with MPS I experience substantial difficulties with arm and leg function and reduced endurance.
    • The MPS-PPM is a clinically feasible tool for detecting physical performance limitations in MPS I.
    • The MPS-PPM has potential for quantifying functional changes following therapeutic interventions.