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Health-Related Quality of Life in Patients with MPS II

Mary Needham1, Wendy Packman, Natasha Quinn

  • 1Pacific Graduate School of Psychology at Palo Alto University, University of California, San Francisco, USA.

Journal of Genetic Counseling
|November 15, 2014
PubMed

Insights

Children with Hunter syndrome (Mucopolysaccharidosis type II) experience significantly lower health-related quality of life. This impacts physical, emotional, social, and school functioning compared to healthy peers.

Area of Science:

  • Medical Genetics
  • Rare Diseases
  • Lysosomal Storage Disorders

Background:

  • Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a progressive X-linked lysosomal disorder primarily affecting males.
  • MPS II impacts multiple organ systems, leading to severe clinical manifestations and reduced life expectancy.
  • The prevalence of MPS II is estimated between 1 in 100,000 and 1 in 150,000 males globally.

Purpose of the Study:

  • To evaluate the health-related quality of life (HRQOL) in individuals with MPS II.
  • To compare the HRQOL of MPS II patients with healthy individuals and those with other chronic illnesses.
  • To explore potential correlations between HRQOL and enzyme replacement therapy (ERT) duration.

Main Methods:

  • Utilized the Pediatric Quality of Life Inventory (PedsQL™) parent and self-report versions to assess HRQOL domains.
  • Compared HRQOL scores of MPS II patients against a healthy sample.
  • Compared HRQOL scores of MPS II patients with cohorts of children suffering from cancer, MSUD, and galactosemia.

Main Results:

  • Both parents and patients with MPS II reported significantly lower HRQOL scores across all PedsQL™ domains (physical, emotional, social, school functioning).
  • MPS II patients demonstrated substantially lower HRQOL compared to healthy children.
  • The MPS II cohort exhibited significantly lower PedsQL™ scores in several domains when compared to patients with other chronic conditions.

Conclusions:

  • Individuals with MPS II exhibit a markedly diminished health-related quality of life.
  • MPS II patients face greater HRQOL challenges than children with other serious chronic illnesses.
  • No significant association was found between HRQOL scores and the duration of enzyme replacement therapy.

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