title: Relationship between brain abnormalities and cognitive profile in Williams syndrome.
abstract: Previous studies have shown inconsistent results when reporting brain abnormalities in Williams syndrome (WS). This makes an interpretation of clinical and behavioural data uncertain in terms of anatomical localization of brain tissue changes. In this study we employed voxel based morphometry to directly investigate the regional distribution of grey matter (GM) density as a function of individual neuropsychological profiles in individuals with WS. GM maps were regressed against the neuropsychological measures on which WS individuals performed worse than controls. Results showed an association between the regional GM density in the cerebellum, bilaterally, the right Supplementary Motor Area, the right fusiform gyrus, and measures of morpho-syntactic ability. An association was also found between measures of visuo-spatial and visuo-motor abilities and regional GM density in the left cerebellum, left parietal lobule, right superior and left orbital frontal gyri. The study shows the potential to clarify the anatomical substrate underlying specific cognitive deficits in WS.
authors.affiliation: Child Neuropsychiatry Unit, Department of Neuroscience, I.R.C.C.S, Children's Hospital "Bambino Gesù", Rome, Italy. menghinideny@gmail.com
authors.forename: Deny
authors.initials: D
authors.lastname: Menghini
authors.forename: Margherita
authors.initials: M
authors.lastname: Di Paola
authors.forename: Francesca
authors.initials: F
authors.lastname: Federico
authors.forename: Stefano
authors.initials: S
authors.lastname: Vicari
authors.forename: Laura
authors.initials: L
authors.lastname: Petrosini
authors.forename: Carlo
authors.initials: C
authors.lastname: Caltagirone
authors.forename: Marco
authors.initials: M
authors.lastname: Bozzali
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D003072:Cognition Disorders / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D009929:Organ Size / Q000502:physiology; D010641:Phenotype; D012016:Reference Values; D013223:Statistics as Topic; D018980:Williams Syndrome / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult