Psychology

Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia

C. A. Moreau, S. G. W. Urchs, et al.

Uncover the startling link between copy number variants (CNVs) at 16p11.2 and 22q11.2 loci and neuropsychiatric disorders. This insightful study by authors including Clara A. Moreau and Sebastian G. W. Urchs delves into how these genetic variants influence brain connectivity, revealing dysconnectivity patterns that may shed light on cognitive and behavioral symptoms in conditions like ASD and SZ.

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Index

Abstract

Copy number variants (CNVs) at 16p11.2 and 22q11.2 loci are associated with neuropsychiatric disorders. This study analyzed resting-state functional connectivity (FC) in CNV carriers, individuals with idiopathic ASD, SZ, or ADHD, and controls. CNVs showed mirror effects on FC. Thalamus, somatomotor, and posterior insula regions showed dysconnectivity across deletions, duplications, idiopathic ASD, and SZ but not ADHD. Higher similarity to deletion FC-signatures correlated with worse cognitive and behavioral symptoms. Results suggest shared dysconnectivity dimensions across seemingly distinct genetic variants and idiopathic disorders.

Publisher

Nature Communications

Published On

Oct 19, 2020

Authors

Clara A. Moreau, Sebastian G. W. Urchs, Kumar Kuldeep, Pierre Orban, Catherine Schramm, Guillaume Dumas, Aurélie Labbé, Guillaume Huguet, Elise Douard, Pierre-Olivier Quirion, Amy Lin, Leila Kushan, Stephanie Grot, David Luck, Adrianna Mendrek, Stephane Potvin, Emmanuel Stip, Thomas Bourgeron, Alan C. Evans, Carrie E. Bearden, Pierre Bellec, Sebastien Jacquemont

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