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 Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Q wave and non-Q wave myocardial infarction: a multivariate analysis of survival experience and clinical outcome after first diagnosis at a tertiary care hospital.

JPMA. The Journal of the Pakistan Medical Association·1999
Same author

A study of 20 SLE patients with intravenous immunoglobulin--clinical and serologic response.

Lupus·1999
Same author

Complications of traditional male circumcision.

Annals of tropical paediatrics·1999
Same author

Novel endoscopic approach for removal of a rectal foreign body.

Gastrointestinal endoscopy·1999
Same author

Estimating the true extent of cognitive decline in the old old.

Journal of the American Geriatrics Society·1999
Same author

Evidence that high-density lipoprotein cholesterol is an independent predictor of acute platelet-dependent thrombus formation.

The American journal of cardiology·1999
Same journal

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.

JIMD reports·2026
Same journal

JAK Inhibition in <i>PNPT1</i>-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune Crosstalk.

JIMD reports·2026
Same journal

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

JIMD reports·2026
Same journal

Cardiac Manifestation in Wilson Disease: Results of a 9-Year Prospective Cohort.

JIMD reports·2026
Same journal

Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders.

JIMD reports·2026
Same journal

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

JIMD reports·2026
See all related articles

Related Experiment Video

Updated: Apr 5, 2026

Author Spotlight: Self-Assessment Protocol for Predicting Psoriatic Arthritis in Psoriasis Patients
02:28

Author Spotlight: Self-Assessment Protocol for Predicting Psoriatic Arthritis in Psoriasis Patients

Published on: March 1, 2024

1.0K

Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity.

A Ahmed1, K Rudser2, A Kunin-Batson3

  • 1Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55414, USA. ahmed306@umn.edu.

JIMD Reports
|August 26, 2015
PubMed
Summary
This summary is machine-generated.

The Physical Symptom Score (PSS) effectively measures disease burden in mucopolysaccharidoses (MPS) type I, correlating with age and impacting daily living skills and quality of life in attenuated MPS I patients.

More Related Videos

The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool
11:35

The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool

Published on: June 30, 2014

58.9K
Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research
07:25

Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research

Published on: October 13, 2023

6.6K

Related Experiment Videos

Last Updated: Apr 5, 2026

Author Spotlight: Self-Assessment Protocol for Predicting Psoriatic Arthritis in Psoriasis Patients
02:28

Author Spotlight: Self-Assessment Protocol for Predicting Psoriatic Arthritis in Psoriasis Patients

Published on: March 1, 2024

1.0K
The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool
11:35

The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool

Published on: June 30, 2014

58.9K
Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research
07:25

Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research

Published on: October 13, 2023

6.6K

Area of Science:

  • Medical research
  • Rare diseases
  • Symptomology

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic disorders impacting multiple organ systems.
  • Accurate assessment of somatic disease burden is crucial for research and treatment monitoring in MPS.
  • Existing measures may not fully capture the comprehensive disease impact in MPS type I.

Purpose of the Study:

  • To develop and validate the Physical Symptom Score (PSS) for quantifying somatic disease burden in MPS.
  • To assess the reliability, concurrent validity, and age-related changes of the PSS in MPS type I.
  • To evaluate the PSS's relationship with daily living skills and quality of life.

Main Methods:

  • Developed the PSS by summing frequency and severity of organ involvement, surgeries, and hydrocephalus from medical histories.
  • Recruited 54 patients with MPS I (Hurler syndrome and attenuated MPS I) aged 5-18 years for longitudinal study over 5 years.
  • Assessed concurrent validity using the Vineland Adaptive Behavior Scale (DLS) and Child Health Questionnaire (CHQ).

Main Results:

  • The PSS demonstrated an association with age in both MPS I groups, indicating increased disease burden over time.
  • A significant negative correlation was observed between PSS and DLS (r = -0.48) and CHQ (r = -0.55) in the attenuated MPS I group.
  • This association was not significant in the Hurler syndrome group, suggesting potential differences in disease manifestation or response to treatment.

Conclusions:

  • The PSS is a valuable tool for measuring disease burden and treatment effects in attenuated MPS I.
  • The PSS's correlation with daily living skills and quality of life highlights its clinical relevance.
  • Adaptations to the PSS may be necessary for the Hurler syndrome population due to factors like early transplant and differing expectations.