1. Functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder
- Author
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Prontera, Paolo, Serino, Domenico, Caldini, Bernardo, Scarponi, Laura, Merla, Giuseppe, Testa, Giuseppe, Muti, Marco, Napolioni, Valerio, Mazzotta, Giovanni, Piccirilli, Massimo, and Donti, Emilio
- Subjects
Amygdala (Brain) -- Care and treatment ,Magnetic resonance imaging -- Usage ,Williams syndrome -- Diagnosis -- Care and treatment ,Health - 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 genedosage alteration on brain development and limbic system function. Keywords Autism spectrum disorders * 7q11.23 Duplication * Amygdala * Williams-Beuren syndrome * Limbic system * Magnetic resonance * Functional magnetic resonance, Introduction Genome-wide analyses of copy-number variants (CNVs) have demonstrated that the duplication of the 7q11.23 region is associated with autism spectrum disorder (ASD) (7dupASD, OMIM #609757) and with a highly [...]
- Published
- 2014
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