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Gepubliceerd in: Journal of Autism and Developmental Disorders 10/2014

01-10-2014 | Brief Report

Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder

Auteurs: Paolo Prontera, Domenico Serino, Bernardo Caldini, Laura Scarponi, Giuseppe Merla, Giuseppe Testa, Marco Muti, Valerio Napolioni, Giovanni Mazzotta, Massimo Piccirilli, Emilio Donti

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2014

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Abstract

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.
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Metagegevens
Titel
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder
Auteurs
Paolo Prontera
Domenico Serino
Bernardo Caldini
Laura Scarponi
Giuseppe Merla
Giuseppe Testa
Marco Muti
Valerio Napolioni
Giovanni Mazzotta
Massimo Piccirilli
Emilio Donti
Publicatiedatum
01-10-2014
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 10/2014
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-014-2117-7

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