Journal of Autism and Developmental Disorders

, Volume 44, Issue 10, pp 2608–2613

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
Brief Report

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.

Keywords

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

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Paolo Prontera
    • 1
  • Domenico Serino
    • 2
  • Bernardo Caldini
    • 3
  • Laura Scarponi
    • 3
  • Giuseppe Merla
    • 4
  • Giuseppe Testa
    • 5
  • Marco Muti
    • 6
  • Valerio Napolioni
    • 7
  • Giovanni Mazzotta
    • 8
  • Massimo Piccirilli
    • 3
  • Emilio Donti
    • 1
  1. 1.Medical Genetics Unit, Hospital “S. M. della Misericordia”University of PerugiaPerugiaItaly
  2. 2.Neurology DivisionOspedale Pediatrico Bambino GesùRomeItaly
  3. 3.Section of Psychiatry and Clinical Psychology, Terni School of MedicineUniversity of PerugiaPerugiaItaly
  4. 4.Medical Genetics UnitIRCCS “Casa Sollievo della Sofferenza” HospitalSan Giovanni RotondoItaly
  5. 5.Department of Experimental OncologyEuropean Institute of OncologyMilanItaly
  6. 6.Department of RadiotherapyHospital “S.Maria”TerniItaly
  7. 7.Innovation Pole for Genomics, Genetics and BiologyPerugiaItaly
  8. 8.School of Specialization in Childhood Neurology and PsychiatryUniversity of PerugiaPerugiaItaly

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