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15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia

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dc.contributor Háskóli Íslands
dc.contributor University of Iceland
dc.contributor Háskólinn í Reykjavík
dc.contributor Reykjavik University
dc.contributor.author Ulfarsson, Magnus
dc.contributor.author Walters, G B
dc.contributor.author Gústafsson, O
dc.contributor.author Steinberg, S
dc.contributor.author Silva, A
dc.contributor.author Doyle, O M
dc.contributor.author Brammer, M
dc.contributor.author Gudbjartsson, Daniel
dc.contributor.author Arnarsdóttir, S
dc.contributor.author Jonsdottir, Gudbjorg
dc.contributor.author Gísladóttir, R S
dc.contributor.author Bjornsdottir, Gyda
dc.contributor.author Helgason, H
dc.contributor.author Ellingsen, L M
dc.contributor.author Halldórsson, J G
dc.contributor.author Sæmundsen, Evald E.
dc.contributor.author Stefánsdóttir, B
dc.contributor.author Jónsson, L
dc.contributor.author Eiríksdóttir, V K
dc.contributor.author Eiríksdóttir, G R
dc.contributor.author Jóhannesdóttir, G H
dc.contributor.author Unnsteinsdóttir, U
dc.contributor.author Jónsdóttir, B
dc.contributor.author Magnúsdóttir, B B
dc.contributor.author sulem, patrick
dc.contributor.author Þorsteinsdóttir, Unnur
dc.contributor.author Sigurðsson, E
dc.contributor.author Brandeis, D
dc.contributor.author Meyer-Lindenberg, A
dc.contributor.author Stefánsson, H
dc.contributor.author Stefansson, Kari
dc.date.accessioned 2017-09-06T13:14:16Z
dc.date.available 2017-09-06T13:14:16Z
dc.date.issued 2017-04-25
dc.identifier.citation Ulfarsson, M. O., Walters, G. B., Gustafsson, O., Steinberg, S., Silva, A., Doyle, O. M., . . . Stefansson, K. (2017). 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia. Transl Psychiatry, 7, e1109. doi:10.1038/tp.2017.77
dc.identifier.issn 2158-3188
dc.identifier.uri https://hdl.handle.net/20.500.11815/379
dc.description.abstract Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1–BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1–BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1–BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
dc.description.sponsorship The research leading to these results has received support from the Innovative Medicines Initiative Joint Undertaking under grant agreements’ no. 115008 (NEWMEDS) and no. 115300 (EUAIMS) of which resources are composed of EFPIA in-kind contribution and financial contribution from the European Union’s Seventh Framework Programme (EU-FP7/2007-2013), EU-FP7 funded grant no. 602450 (IMAGEMEND) and EU funded FP7-People-2011-IAPP grant agreement no. 286213 (PsychDPC). Approval for this study was obtained from the National Bioethics Committee of Iceland and the Icelandic Data Protection Authority.
dc.format.extent e1109
dc.language.iso en
dc.publisher Springer Nature
dc.relation info:eu-repo/grantAgreement/EC/FP7/602450
dc.relation info:eu-repo/grantAgreement/EC/FP7/286213
dc.relation.ispartofseries Translational Psychiatry;7(4)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Dislexia
dc.subject Lesblinda
dc.subject Stærðfræðiörðugleikar
dc.subject Taugalífeðlisfræði
dc.title 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia
dc.type info:eu-repo/semantics/article
dcterms.license This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.description.version Peer Reviewed
dc.identifier.journal Translational Psychiatry
dc.identifier.doi 10.1038/tp.2017.77
dc.relation.url http://www.nature.com/doifinder/10.1038/tp.2017.77
dc.contributor.department Rafmagns- og tölvuverkfræðideild (HÍ)
dc.contributor.department Faculty of Electrical and Computer Engineering (UI)
dc.contributor.department Raunvísindadeild (HÍ)
dc.contributor.department Faculty of Physical Sciences (UI)
dc.contributor.department Læknadeild (HÍ)
dc.contributor.department Faculty of Medicine (UI)
dc.contributor.department Viðskiptadeild (HR)
dc.contributor.department School of Business (RU)
dc.contributor.school Verkfræði- og náttúruvísindasvið (HÍ)
dc.contributor.school School of Engineering and Natural Sciences (UI)
dc.contributor.school Heilbrigðisvísindasvið (HÍ)
dc.contributor.school School of Health Sciences (UI)

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