U. Bellugi et al., LANGUAGE, COMMUNICATION, AND NEURAL SYSTEMS IN WILLIAMS-SYNDROME, Mental retardation and developmental disabilities research reviews, 3(4), 1997, pp. 334-342
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.