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Relationship Between Brain Abnormalities and Cognitive Profile in Williams Syndrome

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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.

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Acknowledgments

D.M. gratefully acknowledges financial support from the Jerome Lejeune Foundation.

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Authors and Affiliations

  1. Child Neuropsychiatry Unit, Department of Neuroscience, I.R.C.C.S, Children’s Hospital “Bambino Gesù”, Piazza Sant’Onofrio 4, 00165, Rome, Italy

    Deny Menghini & Stefano Vicari

  2. Neuroimaging Laboratory, Santa Lucia Foundation, Rome, Italy

    Deny Menghini, Margherita Di Paola & Marco Bozzali

  3. Department of Internal Medicine and Public Health, University of L’Aquila, L’Aquila, Italy

    Margherita Di Paola

  4. Department of Psychology, University of Rome “La Sapienza” and Santa Lucia Foundation, Rome, Italy

    Francesca Federico & Laura Petrosini

  5. Department of Neuroscience, University of Rome “Tor Vergata”, Italy and Santa Lucia Foundation, Rome, Italy

    Carlo Caltagirone

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  1. Deny Menghini
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  2. Margherita Di Paola
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  3. Francesca Federico
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  4. Stefano Vicari
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Correspondence to Deny Menghini.

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Edited by Pierre Roubertoux and Petrus de Vries.

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Menghini, D., Di Paola, M., Federico, F. et al. Relationship Between Brain Abnormalities and Cognitive Profile in Williams Syndrome. Behav Genet 41, 394–402 (2011). https://doi.org/10.1007/s10519-010-9419-0

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  • DOI: https://doi.org/10.1007/s10519-010-9419-0

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