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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Association between cerebral shape and social use of language in Williams syndrome.

Williams syndrome (WS) is a neurogenetic disorder resulting from a hemizygous microdeletion at band 7q11.23. It is characterized by aberrant development of the brain and a unique profile of cognitive and behavioral features. We sought to identify the neuroanatomical abnormalities that are most strongly associated with WS employing signal detection methodology. Once identified with a Quality Receiver Operating Characteristic Curve (QROC), we hypothesized those brain regions distinguishing subjects with WS from controls would be linked to the social phenotype of individuals with this disorder. Thirty-nine adolescents and young adults with WS and 40 typically developing controls matched for age and gender were studied. The QROC identified a combination of an enlarged ventral anterior prefrontal cortex and large bending angle of the corpus callosum to distinguish between WS and controls with a sensitivity of 85.4% and specificity of 75.0%. Within the WS group, bending angle significantly correlated with ventral anterior prefrontal cortex size but not with other morphometric brain measures. Ventral anterior prefrontal size in subjects with WS was positively associated with the use of social engagement devices in a narrative task assessing the use of social and affective language. Our findings suggest that aberrant morphology of the ventral anterior prefrontal cortex is a pivotal contributing factor to the abnormal size and shape of the cerebral cortex and to the social-affective language use typical of individuals with WS.[1]

References

  1. Association between cerebral shape and social use of language in Williams syndrome. Gothelf, D., Searcy, Y.M., Reilly, J., Lai, P.T., Lanre-Amos, T., Mills, D., Korenberg, J.R., Galaburda, A., Bellugi, U., Reiss, A.L. Am. J. Med. Genet. A (2008) [Pubmed]
 
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