WILLIAMS-SYNDROME - PSYCHOBIOLOGICAL ASPECTS

Williams syndrome (WS) is a genetic disorder of childhood characterize d by mental retardation, distinctive facial features, vascular abnorma lities (e.g., supravalvular aortic stenosis) as well as other medical problems associated. In this paper, we describe briefly clinical chara cteristics acid diagnosis of this pathology, emphasizing especially th e unusual neuropsychological profile exhibited in WS. Likewise, the ma in vascular, urinary, renal and ocular abnormalities associated to WS are also described. Finally, we examine the etiological aspects of thi s disease. Although WS is genetic, phenotypus is undoubtedly epigeneti c, being probably caused by submicroscopic deletions within chromosoma l subunit 7q11.23. Moreover, WSCR1 and, especially, LIM-Kinasa 1 genes might be particularly relevant to explain cognitive deficits seen in WS. From a neuropathological point of view, several cerebral morpholog ical and cytoarchitectonic anomalies have been also demonstrated.