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

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.

Genome-wide screening for DNA variants associated with reading and language traits

Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a genome-wide association scan (GWAS) meta-analysis using three richly characterized datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading- and language-related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected P≈10 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on-going international efforts to identify genes contributing to reading and language skills. Genome-wide association scan meta-analysis for reading and language ability. © 2014 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

Token codeswitching and language alternation in narrative discourse: a functional-pragmatic approach

This study is concerned with two phenomena of language alternation in biographic narrations in Yiddish and Low German, based on spoken language data recorded between 1988 and 1995. In both phenomena language alternation serves as an additional communicative tool which can be applied by bilingual speakers to enlarge their set of interactional devices in order to ensure a smoother or more pointed processing of communicative aims. The first phenomenon is a narrative strategy I call Token Cod-eswitching: In a bilingual narrative culminating in a line of reported speech, a single element of L2 indicates the original language of the reconstructed dialogue – a token for a quote. The second phenomenon has to do with directing procedures, carried out by the speaker and aimed at guiding the hearer's attention, which are frequently carried out in L2, supporting the hearer's attention at crucial points in the interaction. Both phenomena are analyzed following a model of narrative discourse as proposed in the framework of Functional Pragmatics. The model allows the adoption of an integral approach to previous findings in code-switching research.

Introducing international accounting standards to an emerging capital market: relative familiarity and language effect in Egypt

The purpose of this study is to assess the effect of relative familiarity and language accessibility on the International Accounting Standards (IASs) disclosures when IASs are first introduced in an emerging capital market. The study focuses on the annual reports of listed non-financial companies in Egypt when IASs were first introduced. The method used applies a disclosure index measurement to a sample of listed company annual reports and evaluates relative compliance with IASs in relation to corporate characteristics. The results show that for relatively less familiar requirements of IASs, the extent of compliance is related to the type of audit firm used and to the presence of a specific statement of compliance with IASs. A lower degree of compliance with less familiar IASs disclosure is observed consistently across a range of company characteristics. Consideration of agency theory and capital need theory would lead to prior expectation of a distinction in disclosure practices between different categories of companies. The results were, therefore, counterintuitive to expectations where the regulations were unfamiliar or not available in the native language, indicating that new variables have to be considered and additional theoretical explanations have to be found in future disclosure studies on emerging capital markets.

Language against the odds, or rather not:the weak central coherence hypothesis and language

EV is a child with a talent for learning language combined with Asperger syndrome. EV’s talent is evident in the unusual circumstances of her acquisition of both her first (Bulgarian) and second (German) languages and the unique patterns of both receptive and expressive language (in both the L1 and L2), in which she shows subtle dissociations in competence and performance consistent with an uneven cognitive profile of skills and abilities. We argue that this case provides support for theories of language learning and usage that require more general underlying cognitive mechanisms and skills. One such account, the Weak Central Coherence (WCC) hypothesis of autism, provides a plausible framework for the interpretation of the simultaneous co-occurrence of EV’s particular pattern of cognitive strengths and weaknesses. Furthermore, we show that specific features of the uneven cognitive profile of Asperger syndrome can help explain the observed language talent displayed by EV. Thus, rather than demonstrating a case where language learning takes place despite the presence of deficits, EV’s case illustrates how a pattern of strengths within this profile can specifically promote language learning.

Morphology in autism spectrum disorders:local processing bias and language

We conducted a detailed study of a case of linguistic talent in the context of autism spectrum disorder, specifically Asperger syndrome. I.A. displays language strengths at the level of morphology and syntax. Yet, despite this grammar advantage, processing of figurative language and inferencing based on context presents a problem for him. The morphology advantage for I.A. is consistent with the weak central coherence (WCC) account of autism. From this account, the presence of a local processing bias is evident in the ways in which autistic individuals solve common problems, such as assessing similarities between objects and finding common patterns, and may therefore provide an advantage in some cognitive tasks compared to typical individuals. We extend the WCC account to language and provide evidence for a connection between the local processing bias and the acquisition of morphology and grammar.

Common variance in amplitude envelope perception tasks and their impact on phoneme duration perception and reading and spelling in Finnish children with reading disabilities

Our goal was to investigate auditory and speech perception abilities of children with and without reading disability (RD) and associations between auditory, speech perception, reading, and spelling skills. Participants were 9-year-old, Finnish-speaking children with RD (N = 30) and typically reading children (N = 30). Results showed significant group differences between the groups in phoneme duration discrimination but not in perception of amplitude modulation and rise time. Correlations among rise time discrimination, phoneme duration, and spelling accuracy were found for children with RD. Those children with poor rise time discrimination were also poor in phoneme duration discrimination and in spelling. Results suggest that auditory processing abilities could, at least in some children, affect speech perception skills, which in turn would lead to phonological processing deficits and dyslexia.

Interval timing in children:effects of auditory and visual pacing stimuli and relationships with reading and attention variables

Motor timing tasks have been employed in studies of neurodevelopmental disorders such as developmental dyslexia and ADHD, where they provide an index of temporal processing ability. Investigations of these disorders have used different stimulus parameters within the motor timing tasks which are likely to affect performance measures. Here we assessed the effect of auditory and visual pacing stimuli on synchronised motor timing performance and its relationship with cognitive and behavioural predictors that are commonly used in the diagnosis of these highly prevalent developmental disorders. Twenty- one children (mean age 9.6 years) completed a finger tapping task in two stimulus conditions, together with additional psychometric measures. As anticipated, synchronisation to the beat (ISI 329 ms) was less accurate in the visually paced condition. Decomposition of timing variance indicated that this effect resulted from differences in the way that visual and auditory paced tasks are processed by central timekeeping and associated peripheral implementation systems. The ability to utilise an efficient processing strategy on the visual task correlated with both reading and sustained attention skills. Dissociations between these patterns of relationship across task modality suggest that not all timing tasks are equivalent.

Susceptibility to pattern glare and the effect of spectral filters on rate of reading and visual search in stroke patients

The present thesis investigates pattern glare susceptibility following stroke and the immediate and prolonged impact of prescribing optimal spectral filters on reading speed, accuracy and visual search performance. Principal observations: A case report has shown that visual stress can occur following stroke. The use of spectral filters and precision tinted lenses proved to be a successful intervention in this case, although the parameters required modification following a further stroke episode. Stroke subjects demonstrate elevated levels of pattern glare compared to normative data values and a control group. Initial use of an optimal spectral filter in a stroke cohort increased reading speed by ~6% and almost halved error scores, findings not replicated in a control group. With the removal of migraine subjects reading speed increased by ~8% with an optimal filter and error scores almost halved. Prolonged use of an optimal spectral filter for stroke subjects, increased reading speed by >9% and error scores more than halved. When the same subjects switched to prolonged use of a grey filter, reading speed reduced by ~4% and error scores increased marginally. When a second group of stroke subjects used a grey filter first, reading speed decreased by ~3% but increased by ~3% with prolonged use of an optimal filter, with error scores almost halving; these findings persisted with migraine subjects excluded. Initial use of an optimal spectral filter improved visual search response time but not error scores in a stroke cohort with migraine subjects excluded. Neither prolonged use of an optimal nor grey filter improved response time or reduced error scores in a stroke group; these findings persisted with the exclusion of migraine subjects.

Introducing International Accounting Standards to an emerging capital market:Relative familiarity and language effect in Egypt

The purpose of this study is to assess the effect of relative familiarity and language accessibility on the International Accounting Standards (IASs) disclosures when IASs are first introduced in an emerging capital market. The study focuses on the annual reports of listed non-financial companies in Egypt when IASs were first introduced. The method used applies a disclosure index measurement to a sample of listed company annual reports and evaluates relative compliance with IASs in relation to corporate characteristics. The results show that for relatively less familiar requirements of IASs, the extent of compliance is related to the type of audit firm used and to the presence of a specific statement of compliance with IASs. A lower degree of compliance with less familiar IASs disclosure is observed consistently across a range of company characteristics. Consideration of agency theory and capital need theory would lead to prior expectation of a distinction in disclosure practices between different categories of companies. The results were, therefore, counterintuitive to expectations where the regulations were unfamiliar or not available in the native language, indicating that new variables have to be considered and additional theoretical explanations have to be found in future disclosure studies on emerging capital markets. © 2003 Elsevier Science Inc. All rights reserved.

Joint colloquium on plurilingualism and language education:opportunities and challenges, (AAAL/TESOL)

This colloquium was organised by Ryuko Kubota (University of British Columbia, Canada) and Sue Garton (Aston University, UK) as part of the collaboration between the American Association for Applied Linguistics (AAAL) and TESOL International Association.

Something to talk about: Content and Language Integrated Learning in Modern Languages in British Higher Education. A case study of German at Aston University

This thesis investigates Content and Language Integrated Learning (CLIL) in German undergraduate programmes in the UK. At its core is a study of how one German department integrates the teaching of language and content in its undergraduate programmes and how instructors and students experience this approach. This micro-context is embedded in the wider macro-context of UK Higher Education and subject to outside forces - be they political, economic, socio-cultural - whose effects will manifest in more or less obvious ways. Data was collected via an online survey of Heads of German at British universities to determine the status quo of CLIL in UK Higher Education and to investigate how certain institutional parameters determine the introduction of CLIL in Higher Education. This project employs a mixed-method case study approach and is based on student questionnaires and semi-structured interview with German teaching staff. The study brings to light a number of significant aspects. For example, contrary to popular belief, content provision in the L2 is rather common at British universities, which is currently not reflected in the research. Student data indicates that German students perceive clear advantages in the university’s approach to CLIL. They consider German-taught content classes challenging yet beneficial for their language development. Staff interviews have yielded intriguing information about perceived advantages and disadvantages of CLIL, about its implications for classroom practice, and about instructors’ attitude towards teacher training, which echo findings from similar investigations in European contexts. Finally, the results of the macro-analysis and the case study are compared and contrasted with findings from European research on ICLHE/CLIL to determine differences and similarities with the British context, a set of recommendations is made regarding CLIL practice at the case study institution, and some implications these indings may have for the future of CLIL in British higher education are discussed.

Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes

Background - Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5–10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. Methods - We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. Results - We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. Conclusions - A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits.

Early hearing loss and language abilities in children with Down syndrome

BACKGROUND: Although many children with Down syndrome experience hearing loss, there has been little research to investigate its impact on speech and language development. Studies that have investigated the association give inconsistent results. These have often been based on samples where children with the most severe hearing impairments have been excluded and so results do not generalize to the wider population with Down syndrome. Also, measuring children's hearing at the time of a language assessment does not take into account the fluctuating nature of hearing loss in children with Down syndrome or possible effects of losses in their early years. AIMS: To investigate the impact of early hearing loss on language outcomes for children with Down syndrome. METHODS & PROCEDURES: Retrospective audiology clinic records and parent report for 41 children were used to categorize them as either having had hearing difficulties from 2 to 4 years or more normal hearing. Differences between the groups on measures of language expression and comprehension, receptive vocabulary, a narrative task and speech accuracy were investigated. OUTCOMES & RESULTS: After accounting for the contributions of chronological age and nonverbal mental age to children's scores, there were significant differences between the groups on all measures. CONCLUSIONS & IMPLICATIONS: Early hearing loss has a significant impact on the speech and language development of children with Down syndrome. Results suggest that speech and language therapy should be provided when children are found to have ongoing hearing difficulties and that joint audiology and speech and language therapy clinics could be considered for preschool children.

A sensory-linguistic approach to normal and impaired reading development

In this chapter we outline a sensory-linguistic approach to the, study of reading skill development. We call this a sensory-linguistic approach because the focus of interest is on the relationship between basic sensory processing skills and the ability to extract efficiently the orthographic and phonological information available in text during reading. Our review discusses how basic sensory processing deficits are associated with developmental dyslexia, and how these impairments may degrade word-decoding skills. We then review studies that demonstrate a more direct relationship between sensitivity to particular types of auditory and visual stimuli and the normal development of literacy skills. Specifically, we suggest that the phonological and orthographic skills engaged while reading are constrained by the ability to detect and discriminate dynamic stimuli in the auditory and visual systems respectively.