Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome

Williams syndrome (WMS) is a rare sporadic disorder that yields a distincti ve profile of medical, cognitive, neurophysiological, neuroanatomical and g enetic characteristics. The cognitive hallmark of WMS is a dissociation bet ween language and face processing (relative strengths) and spatial cognitio n (profound impairment). Individuals with WMS also tend to be overly social , behavior that is opposite to that seen in autism. A genetic hallmark of W MS is a deletion on chromosome band 7q11.23. Williams syndrome is also asso ciated with specific neuromorphological and neurophysiological profiles: pr oportional sparing of frontal,limbic and neocerebellar structures is seen u sing MRI; and abnormal functional organization of the neural systems that u nderlie both language and face processing is revealed through studies using event related potentials. The non-uniformity in the cognitive, neuromorpho logical and neurophysiological domains of WMS make it a compelling model fo r elucidating the relationships between cognition, the brain and, ultimatel y, the genes.