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Quantitative brain morphological analysis in CHARGE syndrome.

Tadashi Shiohama1, Jeremy McDavid2, Jacob Levman3

  • 1Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA; Department of Pediatrics, Chiba University Hospital, Inohana 1-8-1, Chiba-shi, Chiba 2608670, Japan.

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Summary
This summary is machine-generated.

This study quantitatively analyzed brain morphology in CHARGE syndrome (CS) using MRI. Findings reveal significant differences in brain structure, including reduced volumes in key areas and asymmetric cortical thickness, offering new insights into CS pathogenesis.

Keywords:
CHARGE syndromeHARDIStructural brain MRI

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Area of Science:

  • Neuroscience
  • Medical Imaging
  • Genetics

Background:

  • CHARGE syndrome (CS) is a rare genetic disorder with diverse congenital anomalies.
  • Previous neuroimaging studies noted structural abnormalities, but quantitative brain morphology data in CS was lacking.

Purpose of the Study:

  • To quantitatively investigate brain morphology in individuals with CHARGE syndrome using advanced MRI techniques.
  • To compare brain structure and white matter tract integrity between CS patients and healthy controls.

Main Methods:

  • Utilized structural MRI for volumetric analysis and high-angular resolution diffusion MRI (HARDI) tractography.
  • Employed voxel-based morphometry and surface-based analysis to compare brain regions and cortical thickness.
  • Analyzed fiber tract properties including volume, elongation, and diffusion parameters (ADC, FA).

Main Results:

  • CS patients exhibited decreased volumes in the globus pallidus, putamen, subthalamic nucleus, cerebellum, and brainstem.
  • Enlargement of lateral ventricles and asymmetrically increased cortical thickness in the right hemisphere were observed.
  • HARDI tractography showed reduced volume and higher ADC values in multiple fiber tracts, suggesting atypical white matter development.

Conclusions:

  • The study provides the first quantitative analysis of brain morphology in CHARGE syndrome, revealing significant structural alterations.
  • Asymmetric cortical thickness in CS mirrors facial asymmetry, a known clinical feature.
  • Abnormalities in white matter tracts suggest unique pathological mechanisms contributing to developmental delays in CS.