Brief report: Functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder

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

Research output: Contribution to journalArticlepeer-review

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 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.

Original languageEnglish
Pages (from-to)2608-2613
Number of pages6
JournalJournal of Autism and Developmental Disorders
Volume44
Issue number10
DOIs
Publication statusPublished - 2014

Keywords

  • 7q11.23 Duplication
  • Amygdala
  • Autism spectrum disorders
  • Functional magnetic resonance
  • Limbic system
  • Magnetic resonance
  • Williams–Beuren syndrome

ASJC Scopus subject areas

  • Developmental and Educational Psychology
  • Medicine(all)

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