Analysis of Cerebral Shape in Williams Syndrome
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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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].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [35]
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A comparison between linguistic skills and socio‐communicative abilities in Williams syndrome
Alfieri, P., Menghini, D., Marotta, L., Peppo, L. D., Ravà, L., Salvaguardia, F., Varuzza, C., & Vicari, S. (2017) · Journal of Intellectual Disability Research · doi:10.1111/jir.12401 · Cited by 16 · see citing works
Cerebral and cerebellar MRI volumes in Williams syndrome
Osório, A., Soares, J. M., Fernández‐Prieto, M., Vasconcelos, C., Fernandes, C., Sousa, S. S., Carracedo, Á., Gonçalves, Ó. F., & Sampaio, A. (2014) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2013.12.014 · Cited by 15 · see citing works
Cerebellar vermis abnormalities and cognitive functions in individuals with Williams syndrome
Menghini, D., Paola, M. D., Murri, R., Costanzo, F., Caltagirone, C., Vicari, S., & Petrosini, L. (2013) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2013.03.026 · Cited by 15 · see citing works
Morphometry of corpus callosum in Williams syndrome: shape as an index of neural development
Sampaio, A., Sylvain Bouix, A., Sousa, N., Vasconcelos, C., Fernández‐Prieto, M., Shenton, M. E., & Gonçalves, Ó. F. (2012) · Brain Structure and Function · doi:10.1007/s00429-012-0423-4 · Cited by 15 · see citing works
Green, T., Fierro, K. C., Raman, M. M., Saggar, M., Sheau, K. E., & Reiss, A. L. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32422 · Cited by 14 · see citing works
Self-citationRetinotopically defined primary visual cortex in Williams syndrome
Olsen, R. K., Kippenhan, J. S., JAPEE, S. A., Kohn, P. D., Mervis, C. Β., Saad, Z. S., Morris, C. A., Meyer‐Lindenberg, A., & Berman, K. F. (2009) · Brain · doi:10.1093/brain/awn362 · Cited by 13 · see citing works
Genetics and Genomics of Neurobehavioral Disorders
Fisch, G. S. (2003) · Humana Press eBooks · doi:10.1385/1592593534 · Cited by 9 · see citing works
Influences of RASopathies on Neuroanatomical Variation in Children
McGhee, C., Honari, H., Sanchez, M. S., Serur, Y., van Staalduinen, E. K., Stevenson, D. A., Bruno, J. L., Raman, M. M., & Green, T. (2024) · Biological Psychiatry Cognitive Neuroscience and Neuroimaging · doi:10.1016/j.bpsc.2024.04.003 · Cited by 9 · see citing works
Development and Developmental Disorders of the Cerebral Cortex
ten Donkelaar, H. J., Lammens, M. M. Y., Aronica, E., van Bokhoven, H., Ulzen, K. K.-V., & Hori, A. (2014) · Springer eBooks · doi:10.1007/978-3-642-54687-7_10 · Cited by 9 · see citing works
Handedness and corpus callosal morphology in Williams syndrome
Martens, M. A., Wilson, S. J., Chen, J., WOOD, A. G., & Reutens, D. C. (2013) · Development and Psychopathology · doi:10.1017/s0954579412001009 · Cited by 8 · see citing works
Williams syndrome: recent developments
Schmitt, J. E. (2001) · Current Opinion in Psychiatry · doi:10.1097/00001504-200109000-00005 · Cited by 7 · see citing works
Self-citationHan, Z., Thornton‐Wells, T. A., Dykens, E. M., Gore, J. C., & Dawant, B. M. (2012) · Magnetic Resonance Imaging · doi:10.1016/j.mri.2012.02.005 · Cited by 6 · see citing works
Genetic Syndromes Associated with Intellectual Disabilities
Abbeduto, L., Thurman, A. J., Bullard, L., Potter, S. N., & McDuffie, A. S. (2019) · Springer eBooks · doi:10.1007/978-3-030-14895-9_13 · Cited by 6 · see citing works
Neurophysiological Correlates of Dynamic Beat Tracking in Individuals With Williams Syndrome
Kasdan, A. V., Gordon, R. L., & Lense, M. D. (2020) · Biological Psychiatry Cognitive Neuroscience and Neuroimaging · doi:10.1016/j.bpsc.2020.10.003 · Cited by 6 · see citing works
Behavioural indexes of callosal functioning in Williams syndrome
Santos, A., Rondan, C., Mancini, J., & Deruelle, C. (2007) · Journal of Neuropsychology · doi:10.1348/174866407x202328 · Cited by 5 · see citing works
Neuronal Size and Neuronal-Packing Density in Primary Visual Cortex
Galaburda, A. M., Holinger, D. P., Bellugi, U., & Sherman, G. F. (2002) · Cited by 5 · see citing works
Self-citationWilliams–Beuren syndrome with brain malformation and hypertrophic cardiomyopathy
Okamoto, N., Yamagata, T., Yada, Y., Ichihashi, K., Matsumoto, N., Momoi, M. Y., & Mizuguchi, T. (2013) · Brain and Development · doi:10.1016/j.braindev.2013.07.002 · Cited by 3 · see citing works
Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes
Jackowski, A. P., Laureano, M. R., Del’Aquilla, M. A. G., Moura, L. M., Assunção-Leme, I. B., Silva, I., & Schwartzman, J. S. (2010) · Journal of Applied Research in Intellectual Disabilities · doi:10.1111/j.1468-3148.2010.00603.x · Cited by 2 · see citing works
Development and Developmental Disorders of the Cerebral Cortex
ten Donkelaar, H. J., Vasung, L., Molnár, Z., Aronica, E., Lammens, M. M. Y., van Bokhoven, H., Ulzen, K. K.-V., & Hori, A. (2023) · Springer eBooks · doi:10.1007/978-3-031-26098-8_10 · Cited by 2 · see citing works
Correlación fenotipo neuroanatómico y neurocognitivo en el síndrome de Williams
Sampaio, A., Osório, A., Fernández‐Prieto, M., Carracedo, Á., Garayzábal, E., Fernandes, C., Vasconcelos, C., & Gonçalves, Ó. F. (2013) · Revista de Investigación en Logopedia · doi:10.5209/rlog.58682 · Cited by 1 · see citing works
Neuroimaging of Williams–Beuren syndrome
Santos, A., & Meyer‐Lindenberg, A. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511782091.038 · Cited by 1 · see citing works
Neuroanatomical Considerations Specific to the Study of Neurogenetics
Galaburda, A. M., & Schmitt, J. E. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-353-8_2 · Cited by 5 · see citing works
Self-citation(2002) · Archives of Neurology · doi:10.1001/archneur.59.9.1467 · Cited by 1 · see citing works
Williams-Beuren Syndrome And Supravalvularaortic Stenosis
Jurado, L. A. P. (2001) · Developments in cardiovascular medicine · doi:10.1007/978-94-010-1019-1_10 · Cited by 1 · see citing works
Cognitive profile in William syndrome: a case study
Gonçalves, Ó. F., Fernández‐Prieto, M., Sampaio, A., Pérez, A., Henriques, M. I. R. S., Lima, M. R., Siebert, M. F., Sousa, N., & Carracedo, Á. (2005) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.1179/096979505799103722
Bayés, M., & Jurado, L. A. P. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-353-8_9
Cerebral dysgeneses associated with chromosomal disorders
Pinter, J. D. (2007) · Handbook of clinical neurology · doi:10.1016/s0072-9752(07)87024-2
3D Shape and Molecular Analyses of Facial Dysmorphology associated with Cognitive Impairment
Hammond, P., & Tassabehji, M. (2010) · Monographs in human genetics · doi:10.1159/000287598
Caracterização do fenótipo comportamental e de linguagem na síndrome de Williams-Beuren
Rossi, N. F. (2010) · Revista da Sociedade Brasileira de Fonoaudiologia · doi:10.1590/s1516-80342010000300029
Klima, E. S., & McDonnell, J. S. (2007)
Williams Syndrome: The Costs and Benefits of Chromosomal Deletion
Valtierra, S. (2008) · Eukaryon
Use of mouse models to establish genotype-phenotype correlations in Williams-Beuren syndrome
Puimedon, S., & Fragaki, M. (2012) · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
Functional neuroimaging studies of reading and reading disability (developmental dyslexia)
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Self-citation
- Authors
- Schmitt, J. E., Eliez, S., Bellugi, U., & Reiss, A. L.
- Affiliations
- Stanford Medicine (US)
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- 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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