Title: Detecting 3D Corpus Callosum abnormalities in phenylketonuria

Authors: Qing He, Shawn E. Christ, Kevin Karsch, Amanda J. Moffitt, Dawn Peck, Ye Duan

Addresses: Department of Computer Science, University of Missouri, 65211, USA. ' Department of Psychological Sciences, University of Missouri, 65211, USA. ' Department of Computer Science, University of Illinois, 61801, USA. ' Department of Psychological Sciences, University of Missouri, 65211, USA. ' Department of Child Health, University of Missouri, 65211, USA. ' Department of Computer Science, University of Missouri, 65211, USA

Abstract: Phenylketonuria (PKU) is a genetic disorder characterised by an inability to metabolise phenylalanine. Several studies have reported that the Corpus Callosum (CC) is one of the most severely affected structures with respect to volume loss in early treated PKU patients. In this work, we aim to detect the abnormalities of the CC in PKU from both global and local perspectives. 3D models of the CC are extracted from MRI data using a semiautomatic segmentation method. In the global analysis, raw and scaled volumes of the CC are compared between PKU patients and the controls. An oriented bounding box of the CC is constructed and its length, width and height are used as the MRI traits in our study. The raw and scaled values of these traits are compared between patients and controls. In the local analysis, shape differences at every surface point of the CC between PKU patients and the controls are computed using Hotelling T² two-sample metric followed by a permutation test. The height of the CC is found to be significantly shorter in the patients and significant shape abnormalities in the genu and splenium of the CC is also found in the patients.

Keywords: PKU; phenylketonuria; corpus callosum abnormalities; MRI data; shape analysis; genetic disorders; phenylalanine; volume loss; 3D modelling.

DOI: 10.1504/IJCBDD.2009.030762

International Journal of Computational Biology and Drug Design, 2009 Vol.2 No.4, pp.289 - 301

Published online: 04 Jan 2010 *

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