Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome

Ángeles Tepper, Analía Cuiza, Luz María Alliende, Carlos Mena, Juan Pablo Ramirez-Mahaluf, Barbara Iruretagoyena, Claudia Ornstein, Rosemarie Fritsch, Ruben Nachar, Alfonso González-Valderrama, Juan Undurraga, Juan Pablo Cruz, Cristian Tejos, Alex Fornito, Gabriela Repetto, Nicolas Crossley*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental disorder that represents one of the greatest known risk factors for psychosis. Previous studies in psychotic subjects without the deletion have identified a dopaminergic dysfunction in striatal regions, and dysconnectivity of striatocortical systems, as an important mechanism in the emergence of psychosis. Here, we used resting-state functional MRI to examine striatocortical functional connectivity in 22q11.2DS patients. We used a 2 × 2 factorial design including 125 subjects (55 healthy controls, 28 22q11.2DS patients without a history of psychosis, 10 22q11.2DS patients with a history of psychosis, and 32 subjects with a history of psychosis without the deletion), allowing us to identify network effects related to the deletion and to the presence of psychosis. In line with previous results from psychotic patients without 22q11.2DS, we found that there was a dorsal to ventral gradient of hypo-to hyperstriatocortical connectivity related to psychosis across both patient groups. The 22q11.2DS was additionally associated with abnormal functional connectivity in ventral striatocortical networks, with no significant differences identified in the dorsal system. Abnormalities in the ventral striatocortical system observed in these individuals with high genetic risk to psychosis may thus reflect a marker of illness risk.

Original languageEnglish
Pages (from-to)485-494
Number of pages10
JournalSchizophrenia Bulletin
Issue number2
StatePublished - 1 Mar 2022
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2021 The Author(s). Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved.


  • 22q11DS
  • Dopaminergic systems
  • Functional connectivity
  • Genetic risk to psychosis
  • Schizophrenia
  • Striatal connectivity


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