TY - JOUR
T1 - Brief report
T2 - Functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder
AU - Prontera, Paolo
AU - Serino, Domenico
AU - Caldini, Bernardo
AU - Scarponi, Laura
AU - Merla, Giuseppe
AU - Testa, Giuseppe
AU - Muti, Marco
AU - Napolioni, Valerio
AU - Mazzotta, Giovanni
AU - Piccirilli, Massimo
AU - Donti, Emilio
PY - 2014
Y1 - 2014
N2 - 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 shortterm 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 genedosage alteration on brain development and limbic system function.
AB - 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 shortterm 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 genedosage alteration on brain development and limbic system function.
KW - 7q11.23 Duplication
KW - Amygdala
KW - Autism spectrum disorders
KW - Functional magnetic resonance
KW - Limbic system
KW - Magnetic resonance
KW - Williams–Beuren syndrome
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U2 - 10.1007/s10803-014-2117-7
DO - 10.1007/s10803-014-2117-7
M3 - Article
C2 - 24722762
AN - SCOPUS:84912009889
VL - 44
SP - 2608
EP - 2613
JO - Journal of Autism and Developmental Disorders
JF - Journal of Autism and Developmental Disorders
SN - 0162-3257
IS - 10
ER -