Downs Syndrome, Linguistic Abilities, Sociability and Language, Spatial Cognition, Face Recognition, Chromosomal Deletion
Williams Syndome (WS) is as complex neurodevelopmental disorder characterized by vascular and heart disease, mental retardation, characteristic facial features, and chararteristic personality. WS, which is usually sporadic, affects approximately 1 in 20,000 live births and is caused by a particular deletion of about 1.5 Mb of chromosome 7q11.23. My lab has shed light on the anatomical and cognitive basis for WS. While WS patients have cognitive gifts, such as notable linguistic abilities, they also have deficits, such as visuospatial deficits. WS patients also show significant anatomical differences, with a reduces perimeter of the corpus collosum and amygdalar nuclei. The major current goal in the field is to connect the genetic basis to these anatomical and cognitive differences. About 28 genes are deleted in WS; four such genes are Elastin, Lim kinase, WSTF and GTF21. An elastin deletion results in supravalcular aortic sclerosis (SVAS), which is commin in WS patients. Lim kinase absence affects actin polmerization and lamellipodia formation and may regulate abnormal synaptic development. WSTF deletion results in misregulation of chromatin remodeling and this may have profound consewuences during development. GTF absence explains the facial and skull abnormalities in WS. The impact of other gene deletions is poorly understood; thus, future work continues to focus on the relationship between genetics, the brain and cognition in relation to WS syndrome.
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