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Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

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.

SUBMITTER: Newbury DF

PROVIDER: S-EPMC3029677 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature

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Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

Newbury D F DF Paracchini S S Scerri T S TS Winchester L L Addis L L Richardson Alex J AJ Walter J J Stein J F JF Talcott J B JB Monaco A P AP

Behavior genetics 20101217 1

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, KIAA031 ...[more]

PMID: 21165691

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Project description:BackgroundThe present study investigated differences in reading and spelling outcomes in Dutch and English as a second language (ESL) in adolescents with a high familial risk of dyslexia, of whom some have developed dyslexia (HRDys) while others have not (HRnonDys), in comparison to a low familial risk control group without dyslexia (LRnonDys). This allowed us to investigate the persistence of dyslexia in the first language (L1) and the effect of dyslexia on the second language (L2), which has, in this case, a lower orthographic transparency. Furthermore, the inclusion of the HRnonDys group allowed us to investigate the continuity of the familial risk of dyslexia, as previous studies observed that the HRnonDys group often scores in between the HRDys and LRnonDys group, and whether these readers without reading deficits in Dutch, have more reading difficulties in ESL.MethodsThe data of three groups of adolescents were analyzed; 27 LRnonDys, 25 HRdys 25 HRnonDys. The mean age was 14;1 years; months, and 37 were male. All were native speakers of Dutch, attended regular secondary education (grade 7-10), and were non-native speakers of English. Using MANOVA the groups were compared on Dutch and English word reading fluency (WRF), spelling and vocabulary, Dutch pseudoword and loanword reading fluency, phonological awareness (PA), rapid automatized naming (RAN), and verbal short term and working memory. A repeated measures ANOVA was used to compare English and Dutch WRF, spelling and vocabulary directly within the three groups.ResultsThe analyses revealed that the HRDys group had a deficit in both reading and spelling in Dutch and ESL. They also performed poorer than the LRnonDys group on all other measures. Effect sizes were especially large for pseudoword reading and the reaction times during the PA task. The HRnonDys group scored generally poorer than the LRnonDys group but this difference was only significant for Dutch pseudoword reading, PA reaction times and verbal short term memory. In general the HRDys and HRnonDys group scored similar in Dutch and English, except for English WRF where the HRDys group scored slightly better than expected based on their Dutch WRF.DiscussionThere was a high persistence of dyslexia. Adolescents with dyslexia had large impairments in reading and spelling, and reading related measures, both in Dutch and ESL. Despite high inter-individual differences, an overall three-step pattern was observed. Adolescents in the HRnonDys group scored in between the HRDys and LRnonDys group, supporting the polygenetic origin of dyslexia and the continuity of the familial risk of dyslexia. The lower orthographic transparency did not have a negative effect on L2 reading, spelling and vocabulary, both in the HRnonDys and HRDys group. The latter group performed slightly better than expected in L2, which may be a result of the massive exposure to English and high motivation to use English by adolescents.

Project description:While some first language (L1) reading models suggest that inefficient word recognition and small working memory tend to inhibit higher-level comprehension processes; the Compensatory Encoding Model maintains that slow word recognition and small working memory do not normally hinder reading comprehension, as readers are able to operate metacognitive strategies to compensate for inefficient word recognition and working memory limitation as long as readers process a reading task without time constraint. Although empirical evidence is accumulated for support of the Compensatory Encoding Model in L1 reading, there is lack of research for testing of the Compensatory Encoding Model in foreign language (FL) reading. This research empirically tested the Compensatory Encoding Model in English reading among Chinese college English language learners (ELLs). Two studies were conducted. Study one focused on testing whether reading condition varying time affects the relationship between word recognition, working memory, and reading comprehension. Students were tested on a computerized English word recognition test, a computerized Operation Span task, and reading comprehension in time constraint and non-time constraint reading. The correlation and regression analyses showed that the strength of association was much stronger between word recognition, working memory, and reading comprehension in time constraint than that in non-time constraint reading condition. Study two examined whether FL readers were able to operate metacognitive reading strategies as a compensatory way of reading comprehension for inefficient word recognition and working memory limitation in non-time constraint reading. The participants were tested on the same computerized English word recognition test and Operation Span test. They were required to think aloud while reading and to complete the comprehension questions. The think-aloud protocols were coded for concurrent use of reading strategies, classified into language-oriented strategies, content-oriented strategies, re-reading, pausing, and meta-comment. The correlation analyses showed that while word recognition and working memory were only significantly related to frequency of language-oriented strategies, re-reading, and pausing, but not with reading comprehension. Jointly viewed, the results of the two studies, complimenting each other, supported the applicability of the Compensatory Encoding Model in FL reading with Chinese college ELLs.

Project description:Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs).In a dataset of children recruited for a history of reading disability (RD, also known as dyslexia) or attention deficit hyperactivity disorder (ADHD) and their siblings, we investigated the effects of CNVs on reading and language performance. First, we called CNVs with PennCNV using signal intensity data from Illumina OmniExpress arrays (~723,000 probes). Then, we computed the correlation between measures of CNV genomic burden and the first principal component (PC) score derived from several continuous reading and language traits, both before and after adjustment for performance IQ. Finally, we screened the genome, probe-by-probe, for association with the PC scores, through two complementary analyses: we tested a binary CNV state assigned for the location of each probe (i.e., CNV+ or CNV-), and we analyzed continuous probe intensity data using FamCNV.No significant correlation was found between measures of CNV burden and PC scores, and no genome-wide significant associations were detected in probe-by-probe screening. Nominally significant associations were detected (p~10(-2)-10(-3)) within CNTN4 (contactin 4) and CTNNA3 (catenin alpha 3). These genes encode cell adhesion molecules with a likely role in neuronal development, and they have been previously implicated in autism and other neurodevelopmental disorders. A further, targeted assessment of candidate CNV regions revealed associations with the PC score (p~0.026-0.045) within CHRNA7 (cholinergic nicotinic receptor alpha 7), which encodes a ligand-gated ion channel and has also been implicated in neurodevelopmental conditions and language impairment. FamCNV analysis detected a region of association (p~10(-2)-10(-4)) within a frequent deletion ~6 kb downstream of ZNF737 (zinc finger protein 737, uncharacterized protein), which was also observed in the association analysis using CNV calls.These data suggest that CNVs do not underlie a substantial proportion of variance in reading and language skills. Analysis of additional, larger datasets is warranted to further assess the potential effects that we found and to increase the power to detect CNV effects on reading and language.

Dataset Information

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

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Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

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