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Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder / Paolo PRONTERA in Journal of Autism and Developmental Disorders, 44-10 (October 2014)
[article]
Titre : Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Paolo PRONTERA, Auteur ; Domenico SERINO, Auteur ; Bernardo CALDINI, Auteur ; Laura SCARPONI, Auteur ; Giuseppe MERLA, Auteur ; Giuseppe TESTA, Auteur ; Marco MUTI, Auteur ; Valerio NAPOLIONI, Auteur ; Giovanni MAZZOTTA, Auteur ; Massimo PICCIRILLI, Auteur ; Emilio DONTI, Auteur Article en page(s) : p.2608-2613 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders 7q11.23 Duplication Amygdala Williams–Beuren syndrome Limbic system Magnetic resonance Functional magnetic resonance Index. décimale : PER Périodiques Résumé : The duplication of the Williams–Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function. En ligne : http://dx.doi.org/10.1007/s10803-014-2117-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240
in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2608-2613[article] Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Paolo PRONTERA, Auteur ; Domenico SERINO, Auteur ; Bernardo CALDINI, Auteur ; Laura SCARPONI, Auteur ; Giuseppe MERLA, Auteur ; Giuseppe TESTA, Auteur ; Marco MUTI, Auteur ; Valerio NAPOLIONI, Auteur ; Giovanni MAZZOTTA, Auteur ; Massimo PICCIRILLI, Auteur ; Emilio DONTI, Auteur . - p.2608-2613.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2608-2613
Mots-clés : Autism spectrum disorders 7q11.23 Duplication Amygdala Williams–Beuren syndrome Limbic system Magnetic resonance Functional magnetic resonance Index. décimale : PER Périodiques Résumé : The duplication of the Williams–Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function. En ligne : http://dx.doi.org/10.1007/s10803-014-2117-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240