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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-04-25

AUTHORS

M O Ulfarsson, G B Walters, O Gustafsson, S Steinberg, A Silva, O M Doyle, M Brammer, D F Gudbjartsson, S Arnarsdottir, G A Jonsdottir, R S Gisladottir, G Bjornsdottir, H Helgason, L M Ellingsen, J G Halldorsson, E Saemundsen, B Stefansdottir, L Jonsson, V K Eiriksdottir, G R Eiriksdottir, G H Johannesdottir, U Unnsteinsdottir, B Jonsdottir, B B Magnusdottir, P Sulem, U Thorsteinsdottir, E Sigurdsson, D Brandeis, A Meyer-Lindenberg, H Stefansson, K Stefansson

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. More... »

PAGES

e1109

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/tp.2017.77

DOI

http://dx.doi.org/10.1038/tp.2017.77

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1085057390

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28440815


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