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

2.50
Hdl Handle:
http://hdl.handle.net/2336/620223
Title:
15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.
Authors:
Ulfarsson, M O; Walters, G B; Gustafsson, O; Steinberg, S; Silva, A; Doyle, O M; Brammer, M; Gudbjartsson, D F; Arnarsdottir, S; Jonsdottir, G A; Gisladottir, R S; Bjornsdottir, G; Helgason, H; Ellingsen, L M; Halldorsson, J G; Saemundsen, E; Stefansdottir, B; Jonsson, L; Eiriksdottir, V K; Eiriksdottir, G R; Johannesdottir, G H; Unnsteinsdottir, U; Jonsdottir, B; Magnusdottir, B B; Sulem, P; Thorsteinsdottir, U; Sigurdsson, E; Brandeis, D; Meyer-Lindenberg, A; Stefansson, H; Stefansson, K
Citation:
15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia. 2017, 7 (4):e1109 Transl Psychiatry
Issue Date:
25-Apr-2017
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.
Description:
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files
Additional Links:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416713/pdf/tp201777a.pdf
Rights:
Archived with thanks to Translational psychiatry

Full metadata record

DC FieldValue Language
dc.contributor.authorUlfarsson, M Oen
dc.contributor.authorWalters, G Ben
dc.contributor.authorGustafsson, Oen
dc.contributor.authorSteinberg, Sen
dc.contributor.authorSilva, Aen
dc.contributor.authorDoyle, O Men
dc.contributor.authorBrammer, Men
dc.contributor.authorGudbjartsson, D Fen
dc.contributor.authorArnarsdottir, Sen
dc.contributor.authorJonsdottir, G Aen
dc.contributor.authorGisladottir, R Sen
dc.contributor.authorBjornsdottir, Gen
dc.contributor.authorHelgason, Hen
dc.contributor.authorEllingsen, L Men
dc.contributor.authorHalldorsson, J Gen
dc.contributor.authorSaemundsen, Een
dc.contributor.authorStefansdottir, Ben
dc.contributor.authorJonsson, Len
dc.contributor.authorEiriksdottir, V Ken
dc.contributor.authorEiriksdottir, G Ren
dc.contributor.authorJohannesdottir, G Hen
dc.contributor.authorUnnsteinsdottir, Uen
dc.contributor.authorJonsdottir, Ben
dc.contributor.authorMagnusdottir, B Ben
dc.contributor.authorSulem, Pen
dc.contributor.authorThorsteinsdottir, Uen
dc.contributor.authorSigurdsson, Een
dc.contributor.authorBrandeis, Den
dc.contributor.authorMeyer-Lindenberg, Aen
dc.contributor.authorStefansson, Hen
dc.contributor.authorStefansson, Ken
dc.date.accessioned2017-06-14T13:08:16Z-
dc.date.available2017-06-14T13:08:16Z-
dc.date.issued2017-04-25-
dc.date.submitted2017-
dc.identifier.citation15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia. 2017, 7 (4):e1109 Transl Psychiatryen
dc.identifier.issn2158-3188-
dc.identifier.pmid28440815-
dc.identifier.doi10.1038/tp.2017.77-
dc.identifier.urihttp://hdl.handle.net/2336/620223-
dc.descriptionTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Filesen
dc.description.abstractSeveral 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.en
dc.description.sponsorshipInnovative Medicines Initiative Joint Undertaking European Union's Seventh Framework Programme (EU-FP7) EU-FP7 EUen
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416713/pdf/tp201777a.pdfen
dc.rightsArchived with thanks to Translational psychiatryen
dc.subjectLesblindaen
dc.subjectStærðfræðiörðugleikaren
dc.subjectOAG12en
dc.subject.meshDyslexiaen
dc.subject.meshDyscalculiaen
dc.subject.meshGene Deletionen
dc.subject.meshGeneticsen
dc.title15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.en
dc.typeArticleen
dc.contributor.department[ 1 ] deCODE Genet Amgen, Sturlugata 8, Reykjavik 101, Iceland Show the Organization-Enhanced name(s) [ 2 ] Univ Iceland, Fac Elect & Comp Engn, Reykjavik, Iceland Show the Organization-Enhanced name(s) [ 3 ] Cardiff Univ, Brain Imaging Res Ctr, Cardiff, S Glam, Wales Show the Organization-Enhanced name(s) [ 4 ] Kings Coll London, Inst Psychiat, London, England Show the Organization-Enhanced name(s) [ 5 ] Univ Iceland, Fac Phys Sci, Reykjavik, Iceland Show the Organization-Enhanced name(s) [ 6 ] Landspitali Natl Univ Hosp, Dept Psychiat, Reykjavik, Iceland Show the Organization-Enhanced name(s) [ 7 ] Univ Iceland, Fac Med, Reykjavik, Iceland [ 8 ] State Diag & Counselling Ctr, Kopavogur, Iceland [ 9 ] Rontgen Domus, Reykjavik, Iceland [ 10 ] Univ Reykjavik, Sch Business, Reykavik, Iceland Show the Organization-Enhanced name(s) [ 11 ] Univ Zurich, Psychiat Hosp, Dept Child & Adolescent Psychiat & Psychotherapy, Zurich, Switzerland Show the Organization-Enhanced name(s) [ 12 ] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, Mannheim, Germanyen
dc.identifier.journalTranslational psychiatryen
dc.rights.accessOpen Access - Opinn aðganguren

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