title: Cognition and lobar morphology in full mutation boys with fragile X syndrome.
abstract: 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.
authors: Department of Research on Children with Special Needs, Medical Genetics Division, The National Research Centre, Cairo, Egypt.
authors: Nagwa A
authors: NA
authors: Meguid
authors: Cherine
authors: C
authors: Fahim
authors: Rasha
authors: R
authors: Sami
authors: Neveen H
authors: NH
authors: Nashaat
authors: Uicheul
authors: U
authors: Yoon
authors: Mona
authors: M
authors: Anwar
authors: Hosam M
authors: HM
authors: El-Dessouky
authors: Elham A
authors: EA
authors: Shahine
authors: Ahmed Samir
authors: AS
authors: Ibrahim
authors: Adham
authors: A
authors: Mancini-Marie
authors: Alan C
authors: AC
authors: Evans
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D003072:Cognition Disorders / Q000473:pathology* / Q000523:psychology; D005600:Fragile X Syndrome / Q000473:pathology* / Q000523:psychology*; D006801:Humans; D008297:Male; D059906:Neuroimaging; D009483:Neuropsychological Tests