Relationship between brain abnormalities and cognitive profile in williams syndrome

Deny Menghini, Margherita Di Paola, Francesca Federico, Stefano Vicari, Laura Petrosini, Carlo Caltagirone, Marco Bozzali

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)394-402
Number of pages9
JournalBehavior Genetics
Issue number3
Publication statusPublished - May 2011


  • Cognitive phenotype
  • Developmental disabilities
  • Magnetic resonance
  • Voxel-based morphometry

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Ecology, Evolution, Behavior and Systematics


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