Cited by 89Williams Syndrome ResearchGenetics and Neurodevelopmental DisordersFetal and Pediatric Neurological Disorders

Analysis of Cerebral Shape in Williams Syndrome

Schmitt, J. Eric, Eliez, Stephan, Bellugi, Ursula, Reiss, Allan L.·2001·Archives of Neurology

Abstract

BACKGROUND: As a neurobehavioral disorder with a specific neurocognitive profile and a well-defined genetic etiology, Williams syndrome (WMS) provides an exceptional opportunity to examine associations among measures of behavior, neuroanatomy, and genetics. This study was designed to determine how cerebral shape differs between the brains of subjects with WMS and those of normal controls. SUBJECTS: Twenty adults with clinically and genetically diagnosed WMS (mean +/- SD age, 28.5 +/- 8.3 years) and 20 healthy, age- and sex-matched controls (mean +/- SD age, 28.5 +/- 8.2 years). DESIGN: High-resolution structural magnetic resonance imaging data were used for shape-based morphological analysis of the right and left cerebral hemispheres and the corpus callosum. Statistical analyses were performed to examine group differences. RESULTS: Both right and left cerebral hemispheres of subjects with WMS bend to a lesser degree in the sagittal plane than normal controls (P<.001). The corpus callosum also bends less in subjects with WMS (P =.05). In addition, subjects with WMS have decreased cerebral (P<.001) and corpus callosum (P<.001) midline lengths. CONCLUSIONS: Subjects with WMS have significantly different cerebral shape from normal controls, perhaps due to decreased parieto-occipital lobe volumes relative to frontal regions. The similar observation in the corpus callosum may be associated with a decreased size of the splenium in WMS. These findings may provide important clues to the effect of genes in the WMS-deleted region on brain development.

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Crossref · 10.1001/archneur.58.2.283

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  • The reduced parietal bone length and reduction and upward angulation of the nasal bones in MommeD10 mice are reminiscent of the decrease in volume of the parieto-occipital region and the appearance of the nose in WBS patients.

    “The reduced parietal bone length and the reduction and upward angulation of the nasal bones in these mice (Figure 8c, d) are reminiscent of the decrease in the volume of the parieto-occipital region and the appearance of the nose in WBS patients [34,35].”

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Authors
Schmitt, J. E., Eliez, S., Bellugi, U., & Reiss, A. L.
Affiliations
Stanford Medicine (US)
Venue
Archives of Neurology
Published
2001-02-01
Volume
58
Issue
2
Pages
283
ISSN
0003-9942 (ISSN-L)
OpenAlex
W2130501665
Cited by
89
References
36
Citations by year
2026: 1 · 2024: 1 · 2023: 1 · 2021: 1 · 2020: 1 · 2019: 3 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 1 · 2014: 3 · 2013: 4 · 2012: 5
FWCI
1.53
Type
journal article
Language
en
Open access
closed
Locations
  • Archives of Neurology (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institute of Mental Health (MH01142, K02MH001142)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD33113, P01HD033113, R01HD031715, HD31715)
Topics
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Keywords
Williams syndrome, brain structure, corpus callosum, cerebral hemispheres, splenium, parieto-occipital lobe, brain development, neurobehavioral disorders
MeSH terms
Adult, Analysis of Variance, Corpus Callosum, Female, Humans, Male, Telencephalon, Case-Control Studies, Williams Syndrome

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