Cognition and lobar morphology in full mutation boys with Fragile X Syndrome

Department of Research on Children with Special Needs, Medical Genetics Division, The National Research Centre, Cairo, Egypt.
Brain and Cognition (Impact Factor: 2.48). 11/2011; 78(1):74-84. DOI: 10.1016/j.bandc.2011.09.005
Source: PubMed


The aims of the present study are twofold: (1) to examine cortical morphology (CM) associated with alterations in cognition in fragile X syndrome (FXS); (2) to characterize the CM profile of FXS versus FXS with an autism diagnosis (FXS+Aut) as a preliminary attempt to further elucidate the behavioral distinctions between the two sub-groups. We used anatomical magnetic resonance imaging surface-based morphometry in 21 male children (FXS N=11 and age [2.27-13.3] matched controls [C] N=10). We found (1) increased whole hemispheric and lobar cortical volume, cortical thickness and cortical complexity bilaterally, yet insignificant changes in hemispheric surface area and gyrification index in FXS compared to C; (2) linear regression analyses revealed significant negative correlations between CM and cognition; (3) significant CM differences between FXS and FXS+Aut associated with their distinctive behavioral phenotypes. These findings are critical in understanding the neuropathophysiology of one of the most common intellectual deficiency syndromes associated with altered cognition as they provide human in vivo information about genetic control of CM and cognition.

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Available from: Nagwa Abdel Meguid
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    • "In order to address maturational abnormalities in FXS, cortical and subcortical morphology have been studied and were found to be associated with alterations in cognition (Meguid et al., 2012). Given the availability of the Event Related Potential technique and its capacity to record local field potentials, which are summarized postsynaptic potentials from large groups of neurons (Luck, 2005), it is surprising that only a few ERP studies have addressed FXS, in which synaptic plasticity is assumed to be impaired. "
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