Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome

Teuntje A.D. Pelgrim, Matthijs G. Bossong, Analía Cuiza, Luz María Alliende, Carlos Mena, Angeles Tepper, Juan Pablo Ramirez-Mahaluf, Barbara Iruretagoyena, Claudia Ornstein, Rosemarie Fritsch, Juan Pablo Cruz, Cristian Tejos, Gabriela Repetto, Nicolas Crossley*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


The 22q11 deletion syndrome is a genetic disorder associated with a high risk of developing psychosis, and is therefore considered a neurodevelopmental model for studying the pathogenesis of schizophrenia. Studies have shown that localized abnormal functional brain connectivity is present in 22q11 deletion syndrome like in schizophrenia. However, it is less clear whether these abnormal cortical interactions lead to global or regional network disorganization as seen in schizophrenia. We analyzed from a graph-theory perspective fMRI data from 40 22q11 deletion syndrome patients and 67 healthy controls, and reconstructed functional networks from 105 brain regions. Between-group differences were examined by evaluating edge-wise strength and graph theoretical metrics of local (weighted degree, nodal efficiency, nodal local efficiency) and global topological properties (modularity, local and global efficiency). Connectivity strength was globally reduced in patients, driven by a large network comprising 147 reduced connections. The 22q11 deletion syndrome network presented with abnormal local topological properties, with decreased local efficiency and reductions in weighted degree particularly in hub nodes. We found evidence for abnormal integration but intact segregation of the 22q11 deletion syndrome network. Results suggest that 22q11 deletion syndrome patients present with similar aberrant local network organization as seen in schizophrenia, and this network configuration might represent a vulnerability factor to psychosis.

Original languageEnglish
Article number21623
Pages (from-to)21623
JournalScientific Reports
Issue number1
StatePublished - 3 Nov 2021
Externally publishedYes

Bibliographical note

Funding Information:
This work was funded by the Agencia Nacional de Investigación y Desarrollo from Chile (ANID), through its grants ANILLO PIA ACT192064, FONDECYT regular 1200601, and Millenium Nucleus for Cardiovascular Disease NCN17_129.

Publisher Copyright:
© 2021, The Author(s).


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