Margherita Di Paola1,2, Deny Menghini3,4, Riccardo Murri5, Stefano Vicari3,6, Laura Petrosini7, Carlo Caltagirone8,9
1Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy; 2Department of Internal Medicine and Public Health, University of L'Aquila, L'Aquila, Italy, Italy; 3Department of Neuroscience, I.R.C.C.S. Childrens Hospital Bambino Ges, Rome, Italy; 4Neuroimaging Laboratory, IRCCS S. Lucia Foundation, ; 5CSCS - Centro Svizzero di Calcolo Scientifico, ETH Zuerich ; 6LUMSA, University of Rome; 7Department of Psychology, University of Rome La Sapienza; 8Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, Italy; 9Department of Neurological Sciences, University of Rome Tor Vergata
Williams Syndrome (WS) is a rare genetic disorder, with an estimated incidence of 1 in 25000 births, caused by the deletion of one copy of about 20 contiguous genes on the long arm of the chromosome 7. Individuals with WS show cognitive areas of strength and weakness in different cognitive domains. Previous neuroimaging studies have been performed to identify anatomical correlates accounting for the cognitive profile observed in WS subjects. The direct correlation between volumes of cerebellar subregions and measures of cognitive abilities can provided interesting results on the comprehension of some patho-physiological aspects underlying the clinical features of WS.