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Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk

Dima, Diana C. ORCID:, Adams, Rachael, Linden, Stefanie C. ORCID:, Baird, Alister, Smith, Jacqueline, Foley, Sonya ORCID:, Perry, Gavin ORCID:, Routley, Bethany C., Magazzini, Lorenzo ORCID:, Drakesmith, Mark ORCID:, Williams, Nigel ORCID:, Doherty, Joanne, van den Bree, Marianne B. M. ORCID:, Owen, Michael J. ORCID:, Hall, Jeremy ORCID:, Linden, David E. J. ORCID: and Singh, Krish D. ORCID: 2020. Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk. Translational Psychiatry 10 , 324. 10.1038/s41398-020-00998-w

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Rare copy number variants associated with increased risk for neurodevelopmental and psychiatric disorders (referred to as ND-CNVs) are characterized by heterogeneous phenotypes thought to share a considerable degree of overlap. Altered neural integration has often been linked to psychopathology and is a candidate marker for potential convergent mechanisms through which ND-CNVs modify risk; however, the rarity of ND-CNVs means that few studies have assessed their neural correlates. Here, we used magnetoencephalography (MEG) to investigate resting-state oscillatory connectivity in a cohort of 42 adults with ND-CNVs, including deletions or duplications at 22q11.2, 15q11.2, 15q13.3, 16p11.2, 17q12, 1q21.1, 3q29, and 2p16.3, and 42 controls. We observed decreased connectivity between occipital, temporal and parietal areas in participants with ND-CNVs. This pattern was common across genotypes and not exclusively characteristic of 22q11.2 deletions, which were present in a third of our cohort. Furthermore, a data-driven graph theory framework enabled us to successfully distinguish participants with ND-CNVs from unaffected controls using differences in node centrality and network segregation. Together, our results point to alterations in electrophysiological connectivity as a putative common mechanism through which genetic factors confer increased risk for neurodevelopmental and psychiatric disorders.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Cardiff University Brain Research Imaging Centre (CUBRIC)
Neuroscience and Mental Health Research Institute (NMHRI)
Publisher: Springer Nature
ISSN: 2158-3188
Funders: MRC, Wellcome Trust
Date of First Compliant Deposit: 22 September 2020
Date of Acceptance: 2 September 2020
Last Modified: 26 Mar 2024 09:10

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