Williams syndrome: an exploration of neurocognitive and genetic features

We report here on significant attempts to forge links between neurodevelopmental disorders, development of specific neuropsychological abilities, and the functional establishment of patterns of brain organization. Such research programs are providing converging evidence for the coherence or dissociability of components of cognition (e.g. language, spatial cognition) and will allow development of theoretical explanations for the underlying architecture of human cognition. Williams syndrome involves focal rather than generalized cognitive deficits, and offers an important opportunity for linking brain findings to specific atypical cognitive profiles. The unusual neurocognitive profile of Williams syndrome makes it a compelling model of the pathways between genes and human cognition. It is becoming clear that the syndrome's unique genomic organization may also make it an important model of human chromosomal evolution and disease. These studies with a specific neurodevelopmental disorder that presents a rare dissociation of higher cortical functioning may provide opportunities to explore some of the central issues of cognitive neuroscience that tie cognitive functions to brain organization and ultimately to the human genome. (C) 2001 Association for Research in Nervous and Mental Disease. Published by Elsevier Science B.V. All rights reserved.