Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II

Abstract

BACKGROUND AND PURPOSE: 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. MATERIALS AND 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