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MPS II: adaptive behavior of patients and impact on the family system

Mary Needham1, Wendy Packman, Maxwell Rappoport

  • 1Pacific Graduate School of Psychology, Palo Alto University, Palo Alto, CA, USA.

Journal of Genetic Counseling
|November 6, 2013
PubMed

Insights

Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, significantly impacts adaptive behaviors and family quality of life. Severe MPS II cases show the most profound deficits in daily living, communication, socialization, and motor skills.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Pediatric health

Background:

  • Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a progressive X-linked lysosomal disorder affecting multiple organ systems.
  • MPS II presents in mild and severe forms, impacting males with a prevalence of 1 in 65,000 to 132,000 births.
  • Key complications include vision and hearing loss, skin changes, cognitive impairment, and organ enlargement.

Purpose of the Study:

  • To evaluate the adaptive behavior of individuals with MPS II.
  • To assess the impact of MPS II on family functioning and quality of life.
  • To compare adaptive functioning between mild and severe MPS II forms.

Main Methods:

  • Utilized Vineland-II Adaptive Behavior Scales to assess patient functioning.
  • Employed the Peds QL Family Impact Module to evaluate family quality of life.
  • Compared MPS II patient data against normative data and chronic illness controls.

Main Results:

  • MPS II patients demonstrated significantly lower adaptive functioning in communication, daily living, socialization, and motor skills.
  • Severe MPS II cases exhibited markedly reduced adaptive functioning across all domains compared to mild cases.
  • Families of MPS II patients reported lower health-related quality of life and family functioning.

Conclusions:

  • MPS II significantly impairs adaptive behaviors in affected individuals.
  • The severity of MPS II correlates with the degree of adaptive functioning deficits.
  • MPS II substantially diminishes the quality of life and functioning for patient families.

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