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Transl Psychiatry. 2017 Apr 25;7(4):e1109. doi: 10.1038/tp.2017.77.

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

Author information

1
deCODE Genetics/Amgen, Reykjavik, Iceland.
2
Faculty of Electrical and Computer Engineering, University of Iceland, Reykjavik, Iceland.
3
Cardiff University Brain Imaging Research Center, Cardiff University, Cardiff, UK.
4
Institute of Psychiatry, King's College, London, UK.
5
Faculty of Physical Sciences, University of Iceland, Reykjavik, Iceland.
6
Department of Psychiatry, Landspitali National University Hospital, Reykjavik, Iceland.
7
Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
8
The State Diagnosis and Counselling Center, Kopavogur, Iceland.
9
Röntgen Domus, Reykjavik, Iceland.
10
School of Business, University of Reykjavik, Reykavik, Iceland.
11
Department of Child and Adolescent Psychiatry and Psychotherapy, Psychiatric Hospital, University of Zurich, Zurich, Switzerland.
12
Central Institute of Mental Health, University of Heidelberg Medical Faculty Mannheim, Mannheim, Germany.

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.

PMID:
28440815
PMCID:
PMC5416713
DOI:
10.1038/tp.2017.77
[Indexed for MEDLINE]
Free PMC Article

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