Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Pompe disease and physical disability.

Stephen M Haley1, Maria A Fragala, Alison M Skrinar

  • 1Department of Rehabilitation Sciences, Center for Rehabilitation Effectiveness, Sargent College of Health and Rehabilitation Sciences, Boston University, Boston, Massachusetts 02215-1605, USA. smhaley@bu.edu

Developmental Medicine and Child Neurology
|September 2, 2003
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Deductive automated pollen classification in environmental samples via exploratory deep learning and imaging flow cytometry.

The New phytologist·2023
Same author

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.

Journal of clinical neuromuscular disease·2017
Same author

Development and Validation of a Computerized-Adaptive Test for PTSD (P-CAT).

Psychiatric services (Washington, D.C.)·2016
Same author

Computerized Adaptive Tests Detect Change Following Orthopaedic Surgery in Youth with Cerebral Palsy.

The Journal of bone and joint surgery. American volume·2015
Same author

Development of an IRT-Based Short Form to Assess Applied Cognitive Function in Outpatient Rehabilitation.

American journal of physical medicine & rehabilitation·2015
Same author

Ability of PROMIS Pediatric Measures to Detect Change in Children With Cerebral Palsy Undergoing Musculoskeletal Surgery.

Journal of pediatric orthopedics·2015

Children and adolescents with Pompe disease often experience severe physical disabilities in mobility and self-care, irrespective of chronological age. Most require ventilatory support, highlighting significant functional deficits in this Pompe population.

Area of Science:

  • Pediatric physical disability
  • Rare genetic neuromuscular disorders
  • Pompe disease (GSD II)

Background:

  • Pompe disease is a rare, progressive neuromuscular disorder caused by acid alpha-glucosidase deficiency.
  • Significant physical disability impacts mobility and self-care in affected individuals.
  • Understanding the functional status is crucial for supportive care and management strategies.

Purpose of the Study:

  • To characterize the physical disability profiles of children and adolescents diagnosed with Pompe disease.
  • To assess functional deficits in mobility and self-care skills using a disease-specific instrument.
  • To explore the relationship between chronological age and functional performance in this cohort.

Main Methods:

  • A cohort of 30 children and adolescents with Pompe disease was studied.

Related Experiment Videos

  • Data on physical disability were collected via telephone interviews with parents.
  • A modified Pediatric Evaluation of Disability Inventory (PEDI) was utilized for functional assessment.

    • Main Results:

    • The study sample comprised mostly males of Caucasian origin from various countries.
    • Disability profiles were heterogeneous; functional status did not correlate with chronological age.
    • Severe functional deficits were prevalent: nearly two-thirds were non-ambulatory, and most could not perform age-expected self-care skills; three-quarters required ventilator support.

    Conclusions:

    • Children and adolescents with Pompe disease exhibit profound physical disability, particularly in mobility and self-care.
    • Functional performance is significantly delayed compared to chronological age, with a substantial need for respiratory support.
    • These findings underscore the critical need for tailored interventions and comprehensive care for individuals with Pompe disease.