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

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


Title: 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia
Author: Ulfarsson, Magnus   orcid.org/0000-0002-0461-040X
Walters, G B
Gústafsson, O
Steinberg, S
Silva, A
Doyle, O M
Brammer, M
Gudbjartsson, Daniel   orcid.org/0000-0002-5222-9857
Arnarsdóttir, S
Jonsdottir, Gudbjorg   orcid.org/0000-0002-8852-9560
... 21 more authors Show all authors
Date: 2017-04-25
Language: English
Scope: e1109
University/Institute: Háskóli Íslands
University of Iceland
Háskólinn í Reykjavík
Reykjavik University
School: Verkfræði- og náttúruvísindasvið (HÍ)
School of Engineering and Natural Sciences (UI)
Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Department: Rafmagns- og tölvuverkfræðideild (HÍ)
Faculty of Electrical and Computer Engineering (UI)
Raunvísindadeild (HÍ)
Faculty of Physical Sciences (UI)
Læknadeild (HÍ)
Faculty of Medicine (UI)
Viðskiptadeild (HR)
School of Business (RU)
Series: Translational Psychiatry;7(4)
ISSN: 2158-3188
DOI: 10.1038/tp.2017.77
Subject: Dislexia; Lesblinda; Stærðfræðiörðugleikar; Taugalífeðlisfræði
URI: https://hdl.handle.net/20.500.11815/379

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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

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.

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