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3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry.

Ming-Chang Chiang1, Allan L Reiss, Agatha D Lee

  • 1Laboratory of Neuro Imaging, Brain Mapping Division, Department of Neurology, UCLA School of Medicine, Los Angeles, CA 90095-7332, USA.

Neuroimage
|May 22, 2007
PubMed
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Williams syndrome (WS), a genetic disorder, shows widespread brain volume reductions, particularly in parietal and occipital lobes. Preserved frontal and temporal regions may relate to unique cognitive strengths in WS patients.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Williams syndrome (WS) is a neurodevelopmental disorder caused by a deletion of genes on chromosome 7q11.23.
  • Individuals with WS often display specific cognitive profiles, including relative strengths in language and music alongside intellectual disability.

Purpose of the Study:

  • To visualize and quantify gray and white matter reductions in the brains of individuals with Williams syndrome using tensor-based morphometry (TBM).
  • To investigate the relationship between regional brain volumes, diagnosis of WS, and intelligence quotient (IQ) scores.

Main Methods:

  • Structural 3D T1-weighted brain MRIs were acquired from 41 WS subjects and 39 healthy controls.
  • Fluid registration and tensor-based morphometry were employed to map fine-scale volumetric differences and brain asymmetry between groups.

Related Experiment Videos

  • Regional brain volumes were analyzed for associations with WS diagnosis and IQ scores.

    • Main Results:

    • WS subjects exhibited significant, widespread brain volume reductions (10-15%) compared to controls.
    • Parietal and occipital lobes, thalamus, basal ganglia, and midbrain showed disproportionately decreased volumes.
    • Frontal lobes, anterior cingulate, superior temporal gyrus, amygdala, and cerebellum were relatively preserved and correlated positively with performance IQ in adult WS subjects.

    Conclusions:

    • Tensor-based morphometry effectively visualizes brain volume alterations in Williams syndrome.
    • Reduced parietal/occipital volumes may underlie visuospatial deficits in WS.
    • Relatively preserved frontal, amygdala, and cingulate regions align with observed strengths in affect regulation and language.