Brain Topography

, Volume 27, Issue 6, pp 808–821 | Cite as

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

  • Elisa Scariati
  • Marie Schaer
  • Jonas Richiardi
  • Maude Schneider
  • Martin Debbané
  • Dimitri Van De Ville
  • Stephan Eliez
Original Paper


The clinical picture associated with 22q11.2 deletion syndrome (22q11DS) includes mild mental retardation and an increased risk of schizophrenia. While the clinical phenotype has been related to structural brain network alterations, there is only scarce information about functional connectivity in 22q11DS. However, such studies could lead to a better comprehension of the disease and reveal potential biomarkers for psychosis. A connectivity decoding approach was used to discriminate between 42 patients with 22q11DS and 41 controls using resting-state connectivity. The same method was then applied within the 22q11DS group to identify brain connectivity patterns specifically related to the presence of psychotic symptoms. An accuracy of 84 % was achieved in differentiating patients with 22q11DS from controls. The discriminative connections were widespread, but predominantly located in the bilateral frontal and right temporal lobes, and were significantly correlated to IQ. An 88 % accuracy was obtained for identification of existing psychotic symptoms within the patients group. The regions containing most discriminative connections included the anterior cingulate cortex (ACC), the left superior temporal and the right inferior frontal gyri. Functional connectivity alterations in 22q11DS affect mostly frontal and right temporal lobes and are related to the syndrome’s mild mental retardation. These results also provide evidence that resting-state connectivity can potentially become a biomarker for psychosis and that ACC plays an important role in the development of psychotic symptoms.


22q11DS Resting-state networks Brain connectivity decoding Schizophrenia Early psychosis 



We would like to thank Ayca Karagöz Uzel, Laure Chevalley and Elodie Cuche for participating in data collection; Sophie Dahoun, Christine Hinard and Lucia Bartoloni for genetical analyses and Sarah Menghetti for her involvement with the families and proofreading the manuscript. Further thanks go to François Lazeyras, Frank Henry and Yohann Ouvrier Buffet at the CIBM. Finally we acknowledge the patients and their families who kindly participated in our study. This study was supported by the Swiss National Science Foundation (SNF) (Grant numbers: to S. Eliez 32473B_121996 and 234730_144260; to D. Van De Ville PP00P2_123438 and PP00P2_123438) and by the National Center of Competence in Research (NCCR) “Synapsy-The Synaptic Bases of Mental Diseases” (SNF, Grant number: 51AU40_125759). E. Scariati (#145250) and M. Schaer (#145760) were supported by a fellowship from the SNF and J. Richiardi by a Marie-Curie International Outgoing Fellowship (#299500).

Conflict of interest

The authors declare no conflicts of interest.


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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Elisa Scariati
    • 1
  • Marie Schaer
    • 1
    • 2
  • Jonas Richiardi
    • 3
    • 4
  • Maude Schneider
    • 1
  • Martin Debbané
    • 1
    • 5
  • Dimitri Van De Ville
    • 6
    • 7
  • Stephan Eliez
    • 1
    • 8
  1. 1.Office Médico-Pédagogique Research Unit, Department of PsychiatryUniversity of Geneva School of MedicineGeneva 8Switzerland
  2. 2.Stanford Cognitive and Systems Neuroscience LaboratoryStanford University School of MedicinePalo AltoUSA
  3. 3.Laboratory for Neurology and Imaging of Cognition, Department of Neurosciences and Department of Clinical NeurologyUniversity of GenevaGenevaSwitzerland
  4. 4.Functional Imaging in Neuropsychiatric Disorders Laboratory, Department of Neurology and Neurological SciencesStanford UniversityStanfordUSA
  5. 5.Adolescence Clinical Psychology Research Unit, Faculty of Psychology and Educational SciencesUniversity of GenevaGenevaSwitzerland
  6. 6.Department of Radiology and Medical InformaticsUniversity of GenevaGenevaSwitzerland
  7. 7.Medical Image Processing Lab, Institute of BioengineeringEcole Polytechnique Féderale de LausanneLausanneSwitzerland
  8. 8.Department of Genetic Medicine and DevelopmentUniversity of Geneva School of MedicineGenevaSwitzerland

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