Rice, M. L., Smith, S. D. & Gayan, J. Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment. J. Neurodev. Disord. 1, 264-282

Journal of Neurodevelopmental Disorders (Impact Factor: 3.27). 12/2009; 1(4):264-82. DOI: 10.1007/s11689-009-9031-x
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We analyzed genetic linkage and association of measures of language, speech and reading phenotypes to candidate regions in a single set of families ascertained for SLI. Sib-pair and family-based analyses were carried out for candidate gene loci for Reading Disability (RD) on chromosomes 1p36, 3p12-q13, 6p22, and 15q21, and the speech-language candidate region on 7q31 in a sample of 322 participants ascertained for Specific Language Impairment (SLI). Replication or suggestive replication of linkage was obtained in all of these regions, but the evidence suggests that the genetic influences may not be identical for the three domains. In particular, linkage analysis replicated the influence of genes on chromosome 6p for all three domains, but association analysis indicated that only one of the candidate genes for reading disability, KIAA0319, had a strong effect on language phenotypes. The findings are consistent with a multiple gene model of the comorbidity between language impairments and reading disability and have implications for neurocognitive developmental models and maturational processes.

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    • "Subsequently, the SLI Consortium has shown that CMIP is also associated with reading abilities in SLI, although interestingly not with dyslexia (Newbury et al. 2011). Rice et al. (2009) have also directly addressed the question of shared effects between SLI and RD by performing association analyses of genes previously associated with RD in a sample selected for SLI (Rice et al. 2009). They found marginal association (0.05 > P > 0.01 prior to correction for multiple testing) with several SNPs across KIAA0319 and measures of reading, articulation, and vocabulary, and for an omnibus test of language ability. "
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    ABSTRACT: Although there is considerable evidence that individual differences in language development are highly heritable, there have been few genome-wide scans to locate genes associated with the trait. Previous analyses of language impairment have yielded replicable evidence for linkage to regions on chromosomes 16q, 19q, 13q (within lab), and at 13q (between labs). Here we report the first linkage study to screen the continuum of language ability, from normal to disordered, as found in the general population. 383 children from 147 sib-ships (214 sib-pairs) were genotyped on the Illumina® Linkage IVb Marker Panel using three composite language-related phenotypes and a measure of phonological memory (PM). Two regions (10q23.33; 13q33.3) yielded genome-wide significant peaks for linkage with PM. A peak suggestive of linkage was also found at 17q12 for the overall language composite. This study presents two novel genetic loci for the study of language development and disorders, but fails to replicate findings by previous groups. Possible reasons for this are discussed. This article is protected by copyright. All rights reserved.
    No preview · Article · May 2015 · Genes Brain and Behavior
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    • "In particular, pleiotropic effect of KIAA0319 was found between special language impairment (SLI) and DD. Rice et al. studied some previously reported DD or speech-sound disorder putative loci in SLI subjects [26]. Linkage analyses supported that chromosome 6p22 was linked to several language measures. "
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    ABSTRACT: Background: Previous studies have shown that KIAA0319 is a candidate gene for dyslexia in western populations. In view of the different languages used in Caucasian and Chinese populations, the aim of the present study was to investigate whether there is also an association of KIAA0319 in Chinese children with dyslexia and/or to the language-related cognitive skills. Method and results: A total of twenty six single nucleotide polymorphisms (SNPs) were genotyped from three hundred and ninety three individuals from 131 Chinese families. Four of the SNPs have been reported in the literature and twenty two being tag SNPs at KIAA0319. Analysis for allelic and haplotypic associations was performed with the UNPHASED program and multiple testing was corrected using permutation. Results indicate that KIAA0319 is not associated with Chinese children with dyslexia but a haplotype consisting of rs2760157 and rs807507 SNPs were significantly associated with an onset detection test, a measure of phonological awareness (pnominal = 6.85 10-5 and pcorrected = 0.0029). Conclusion: In conclusion, our findings suggest that KIAA0319 is associated with a reading-related cognitive skill.
    Full-text · Article · Jul 2014 · Behavioral and Brain Functions
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    • "Given that both oral language and reading skills rely on an intact language system, one view of the overlap between SLI and dyslexia is that they both stem from a language impairment affecting reading only in its mild form, and oral language and reading in more severe cases. Consistent with this view are findings of shared genetic effects across SLI and dyslexia [40-42]. However, recent evidence including separable genetic effects [41] and subtle dissociations in the oral language profiles of the two populations [43,44] suggest that this single deficit/severity view is too simplistic. "
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    ABSTRACT: Dyscalculia, dyslexia, and specific language impairment (SLI) are relatively specific developmental learning disabilities in math, reading, and oral language, respectively, that occur in the context of average intellectual capacity and adequate environmental opportunities. Past research has been dominated by studies focused on single impairments despite the widespread recognition that overlapping and comorbid deficits are common. The present study took an epidemiological approach to study the learning profiles of a large school age sample in language, reading, and math. Both general learning profiles reflecting good or poor performance across measures and specific learning profiles involving either weak language, weak reading, weak math, or weak math and reading were observed. These latter four profiles characterized 70% of children with some evidence of a learning disability. Low scores in phonological short-term memory characterized clusters with a language-based weakness whereas low or variable phonological awareness was associated with the reading (but not language-based) weaknesses. The low math only group did not show these phonological deficits. These findings may suggest different etiologies for language-based deficits in language, reading, and math, reading-related impairments in reading and math, and isolated math disabilities.
    Full-text · Article · Oct 2013 · PLoS ONE
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