title: Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II.
abstract: OBJECTIVE
  Reliable markers for predicting neurologic outcome in patients with MPS II are lacking. The purpose of this study is to explore whether quantitative volumetric measurements of brain MR imaging can be used to differentiate between MPS II patients with and without cognitive impairment. This MR imaging study is the first in MPS II patients to use automated/semi-automated methods to quantify brain volumes in a longitudinal design.
  
  
  METHODS
  Sixteen male patients with MPS II in a natural history study had annual brain MR imaging and detailed neurodevelopmental assessment over 2 years. Automated and semi-automated methods were used to determine brain volumes. Linear mixed regression models adjusting for age were used to assess the correlation between the volumetric parameters and cognition.
  
  
  RESULTS
  Among the 16 MPS II patients, 10 (22 MR imaging studies) had cognitive impairment whereas the other 6 (11 MR imaging studies) had normal cognition. A decreased brain tissue/ICV ratio (-5%; P < .001) and an increased lateral ventricle/ICV ratio (+4%; P = .029) were found in patients with cognitive impairment compared with patients with normal cognition. These changes were apparent in patients as young as 7 years of age in addition to older patients.
  
  
  CONCLUSIONS
  Quantitative volumetric measurements of brain MR imaging in MPS II patients can be obtained by using automated and semi-automated segmentation methods. MPS II patients with cognitive impairment have decreased brain tissue volumes, but longer studies with more subjects are required to confirm these results.
authors.affiliation: Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA. zhengfan@med.unc.edu
authors.forename: Zheng
authors.initials: Z
authors.lastname: Fan
authors.forename: M
authors.initials: M
authors.lastname: Styner
authors.forename: J
authors.initials: J
authors.lastname: Muenzer
authors.forename: M
authors.initials: M
authors.lastname: Poe
authors.forename: M
authors.initials: M
authors.lastname: Escolar
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology / Q000473:pathology*; D018450:Disease Progression; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000473:pathology*; D011237:Predictive Value of Tests; D012044:Regression Analysis; D055815:Young Adult