Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
Dianne F. Newbury,Silvia Paracchini,Thomas S. Scerri,Laura Winchester,Laura Addis,Alex J. Richardson,J. Walter,John F. Stein,Joel B. Talcott,Anthony P. Monaco +9 more
TLDR
The role of variants in these genes (namely MRPL19/C20RF3,ROBO1,DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia is investigated.Abstract:
Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia. We perform case–control and quantitative association analyses using measures of oral and written language skills in samples of SLI and dyslexic families and cases. We replicate association between KIAA0319 and DCDC2 and dyslexia and provide evidence to support a role for KIAA0319 in oral language ability. In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families.read more
Citations
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Cerebral Asymmetry and Language Development: Cause, Correlate, or Consequence?
TL;DR: It is argued that the evidence for the endophenotype account is unconvincing, not least because there is little support for strong genetic influences on individual differences in cerebral asymmetry.
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Ten questions about terminology for children with unexplained language problems.
TL;DR: A survey of labels in current use found 132 different terms, 33 of which had 600 or more returns on Google Scholar between 1994 and 2013 as mentioned in this paper. Of the remainder, the term "specific language impairment" was the most commonly used.
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Shining a light on CNTNAP2: complex functions to complex disorders.
TL;DR: The role of CNTNAP2 is examined in the context of larger neurogenetic networks during development and disorder, given what is known regarding the regulation and function of this gene.
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Brain mechanisms of acoustic communication in humans and nonhuman primates: An evolutionary perspective
TL;DR: The proposed model assumes age-dependent interactions between the basal ganglia and their cortical targets, similar to vocal learning in some songbirds, and provides a solution to the question for the adaptive value of the “first word”.
Journal ArticleDOI
DCDC2, KIAA0319 and CMIP Are Associated with Reading-Related Traits
Thomas S. Scerri,Andrew P. Morris,Lyn-Louise Buckingham,Dianne F. Newbury,Laura L. Miller,Anthony P. Monaco,Dorothy V. M. Bishop,Silvia Paracchini +7 more
TL;DR: In this article, the authors analyzed common risk variants within dyslexia (reading disability; RD) and specific language impairment (SLI) candidate loci in the Avon Longitudinal Study of Parents and Children cohort (n = 3725), representing children born in southwest England in the early 1990s, and detected associations between reading skills and KIAA0319, DCDC2, and CMIP.
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