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Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II

Brianna Yund1, Kyle Rudser2, Alia Ahmed1

  • 1Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.

Molecular Genetics and Metabolism
|December 27, 2014
PubMed
Abstract

Insights

Attention is compromised in attenuated mucopolysaccharidosis type II (MPS II), or Hunter syndrome, despite average intelligence. White matter and corpus callosum abnormalities are linked to attention deficits in these patients.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • The attenuated phenotype of mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is not well-characterized, particularly regarding potential mild cognitive or behavioral impairments.
  • While severe MPS II involves significant cognitive deficits, the impact of the attenuated form on long-term functional outcomes remains unclear.
  • Previous studies indicate MRI abnormalities, including white matter changes, in MPS II patients.

Purpose of the Study:

  • To investigate the association between brain volumes, somatic disease burden, and neuropsychological outcomes in patients with attenuated MPS II.
  • To compare brain volumes in patients with attenuated MPS II to those of normal controls.

Main Methods:

  • Cross-sectional analysis of a longitudinal study involving 20 patients with attenuated MPS II (mean age 15.8).
  • Neuropsychological assessments included measures of intelligence, memory, and attention.
  • Brain MRI volumes were analyzed and compared to 55 age-matched normal controls.

Main Results:

  • Patients with attenuated MPS II demonstrated average IQ and memory but attention measures were one standard deviation below average.
  • Corpus callosum volumes were significantly smaller (22% difference) in MPS II patients compared to controls.
  • MPS II patients did not exhibit normal age-related white matter volume increases seen in controls.
  • Somatic disease burden, white matter, and corpus callosum volumes were significantly associated with attention deficits.

Conclusions:

  • Attention is impaired in attenuated MPS II, even with average intelligence.
  • Corpus callosum and white matter abnormalities, along with somatic disease burden, contribute to attention difficulties in MPS II.
  • Increased awareness and appropriate management are crucial for patients with attenuated MPS II.
Keywords:
AttenuatedMRI brain volumesMucopolysaccharidosis type IINeuropsychological outcomes

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