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

Abstract 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 i...

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Autores principales: 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
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Publicado: Nature Portfolio 2021
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spelling oai:doaj.org-article:8c526dd3417f4b0a91e7dc296ded10352021-11-08T10:46:07ZAbnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome10.1038/s41598-021-00873-82045-2322https://doaj.org/article/8c526dd3417f4b0a91e7dc296ded10352021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-00873-8https://doaj.org/toc/2045-2322Abstract 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.Teuntje A. D. PelgrimMatthijs G. BossongAnalía CuizaLuz María AlliendeCarlos MenaAngeles TepperJuan Pablo Ramirez-MahalufBarbara IruretagoyenaClaudia OrnsteinRosemarie FritschJuan Pablo CruzCristian TejosGabriela RepettoNicolas CrossleyNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
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
Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
description Abstract 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.
format article
author 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
author_facet 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
author_sort Teuntje A. D. Pelgrim
title Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
title_short Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
title_full Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
title_fullStr Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
title_full_unstemmed Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
title_sort abnormal nodal and global network organization in resting state functional mri from subjects with the 22q11 deletion syndrome
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/8c526dd3417f4b0a91e7dc296ded1035
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