LANGUAGE, COMMUNICATION, AND NEURAL SYSTEMS IN WILLIAMS-SYNDROME

Purpose: Williams syndrome, a rare, genetically based disorder, result s in a distinctive facies, a specific heart defect, mental retardation , but remarkably spared language. We discuss results of a research pro gram designed to forge links between cognition, brain, and gene in the context of new directions in cognitive neuroscience. Findings: Illust ration of the relevance of this approach begins with the separation of language from concept formation which challenges important theories o f the development of cognition. When compared to Down syndrome (anothe r genetically based syndrome), dissociations in cognition, linguistic, and memory functions are discussed. Next, dissociations within the vi sual-processing capabilities, specifically spared face processing, and impaired visual-spatial processing in Williams syndrome are character ized. Third, developmental trajectories of specific aspects of cogniti on including receptive language, visual-spatial function, and face pro cessing in both syndromes are contrasted. Finally, the neurobiological bases of Williams syndrome is reviewed, including neurophysiological, neuroanatomical, and molecular genetic characteristics. Conclusions: The special characteristics of Williams syndrome provide an opportunit y to challenge and develop theories of cognition and, on a larger scal e, forge links between specific neuropsychological, neuroanatomical, a nd genetic underpinnings relevant to developmental cognitive neuroscie nce. (C) 1997 Wiley-Liss, Inc.