Williams Syndrome: An Unusual Neuropsychological Profile
Ursula Bellugi The Salk Institute for Biological Studies
Paul P. Wang The Salk Institute for Biological Studies
Terry L. Jernigan Veterans Affairs Medical Center and UCSD School of Medicine
As a genetic experiment of nature, Williams syndrome (WS) is expressed on multiple biological levels. Ultimately, WS presents an unusual neurobehavioral profile, affording the opportunity to study both neurobiology and neuropsychology within a single, genetically defined paradigm. The Salk Institute's Laboratory for Cognitive Neuroscience (LCN) has been engaged in a comprehensive program of study that spans multiple biological levels in WS. These levels include the linguistic, the neuropsychological, the neuroanatomic, the neurophysiologic, and the genetic. The fundamental goal of these combined investigations is to help elucidate the brain bases of behavior.
In this chapter, we first present the unusual neuropsychological profile of WS, a profile of peaks and valleys of abilities within and across domains of higher cognitive functioning. We then review the results of recent studies on the neuroanatomic basis of WS and its neurophysiological characteristics, and the implications of this research program for an understanding of the neural systems that subserve language and cognitive functioning. A more complete discussion of the neuroanatomic and neurophysiologic investigations in WS is presented in the chapters that follow. Important to note, these cross- disciplinary studies are all carried out on the same subjects, and thus give us the unusual opportunity to relate findings from cognitive, neuroanatomical, and neurophysiological levels.