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.

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.

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.

Autochthonous heritage languages and social media:writing and bilingual practices in Low German on Facebook

This article analyses how speakers of an autochthonous heritage language (AHL) make use of digital media, through the example of Low German, a regional language used by a decreasing number of speakers mainly in northern Germany. The focus of the analysis is on Web 2.0 and its interactive potential for individual speakers. The study therefore examines linguistic practices on the social network site Facebook, with special emphasis on language choice, bilingual practices and writing in the autochthonous heritage language. The findings suggest that social network sites such as Facebook have the potential to provide new mediatized spaces for speakers of an AHL that can instigate sociolinguistic change.

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.

Dyslexia - towards diagnosis : the implications of corical laterality for children's reading difficulties

Dyslexia as a concept is defined and reviewed in a context of psychological, neurological and educational processes. In the present investigation these processes are recognised but emphasis is placed on dyslexia as a phenomenon of a written language system. The type of script system involved in the phenomenon is that of an alphabetic code representing phonological elements of language In script form related to meaning. The nature of this system is viewed In the light of current linguistic and psycholinguistic studies. These studies based as they are on an analysis of underlying written language structures provide a framework for examining the arbitrary and rule-governed system which a young child is expected to acquire. There appear to be fundamental implications for reading, spelling and writing processes; for example an alphabetic system requires recognition of consistent script-phonetic relationships, 'mediated word identification' and in particular uni-directional sensory and motor modes of perceiving. These are critical maturational factors in the young learner. The skills needed by the child for decoding and encoding such a phonemic script are described in a psychological and neuropsychological framework. Evidence for individual differences in these skills is noted and the category of the dyslexic-type learner emerges. Incidence is related to the probabilities of individual differences in lateralisation of brain function not favouring the acquisition of our script system In some cases. Dyslexia is therefore regarded as a primary difficulty consequent upon the incompatibility between:the written language system itself and the intrinsic, developmental skills of an individual's perceptual/motor system. It is recognised that secondary stresses e.g. socio-cultural deprivation, low intellectual potential or emotional trauma can further inhibit the learning process. Symptomology of a dyslexic syndrome is described.. The symptomology is seen by the writer to constitute a clinical entity. a specific category of learning difficulty for which predictive and diagnostic procedure could be devised for classroom use. Consequently an index of relevant test items has been compiled, based upon key clinical experiences and theoretical writings. This instrument knovn as the Aston Index is presented and discussed. The early stages of validation are reported and the proposed longtitudinal studies are described. The aim is to give teachers in the classroom the power and understanding to plan more effectively the earliest stages of teaching and learning; in particular to provide the means of matching the nature of the skill to be acquired with the underlying developmental patterns of each individual learner.

Speech and non-speech stimuli in the prediction of early reading skills:the influence of processing demands and response-type

Purpose: Both phonological (speech) and auditory (non-speech) stimuli have been shown to predict early reading skills. However, previous studies have failed to control for the level of processing required by tasks administered across the two levels of stimuli. For example, phonological tasks typically tap explicit awareness e.g., phoneme deletion, while auditory tasks usually measure implicit awareness e.g., frequency discrimination. Therefore, the stronger predictive power of speech tasks may be due to their higher processing demands, rather than the nature of the stimuli. Method: The present study uses novel tasks that control for level of processing (isolation, repetition and deletion) across speech (phonemes and nonwords) and non-speech (tones) stimuli. 800 beginning readers at the onset of literacy tuition (mean age 4 years and 7 months) were assessed on the above tasks as well as word reading and letter-knowledge in the first part of a three time-point longitudinal study. Results: Time 1 results reveal a significantly higher association between letter-sound knowledge and all of the speech compared to non-speech tasks. Performance was better for phoneme than tone stimuli, and worse for deletion than isolation and repetition across all stimuli. Conclusions: Results are consistent with phonological accounts of reading and suggest that level of processing required by the task is less important than stimuli type in predicting the earliest stage of reading.

What drives the prediction of early reading? An analysis of stimulus and response-type

Purpose: Phonological accounts of reading implicate three aspects of phonological awareness tasks that underlie the relationship with reading; a) the language-based nature of the stimuli (words or nonwords), b) the verbal nature of the response, and c) the complexity of the stimuli (words can be segmented into units of speech). Yet, it is uncertain which task characteristics are most important as they are typically confounded. By systematically varying response-type and stimulus complexity across speech and non-speech stimuli, the current study seeks to isolate the characteristics of phonological awareness tasks that drive the prediction of early reading. Method: Four sets of tasks were created; tone stimuli (simple non-speech) requiring a non-verbal response, phonemes (simple speech) requiring a non-verbal response, phonemes requiring a verbal response, and nonwords (complex speech) requiring a verbal response. Tasks were administered to 570 2nd grade children along with standardized tests of reading and non-verbal IQ. Results: Three structural equation models comparing matched sets of tasks were built. Each model consisted of two 'task' factors with a direct link to a reading factor. The following factors predicted unique variance in reading: a) simple speech and non-speech stimuli, b) simple speech requiring a verbal response but not simple speech requiring a non-verbal-response, and c) complex and simple speech stimuli. Conclusions: Results suggest that the prediction of reading by phonological tasks is driven by the verbal nature of the response and not the complexity or 'speechness' of the stimuli. Findings highlight the importance of phonological output processes to early reading.

The neural correlates of reading impairment in adults with developmental dyslexia:evidence from fMRI between group analyses and an fMRI multiple-case study

The goal of this project was to investigate the neural correlates of reading impairment in dyslexia as hypothesised by the main theories – the phonological deficit, visual magnocellular deficit and cerebellar deficit theories, with emphasis on individual differences. This research took a novel approach by: 1) contrasting the predictions in one sample of participants with dyslexia (DPs); 2) using a multiple-case study (and between-group comparisons) to investigate differences in BOLD between each DP and the controls (CPs); 3) demonstrating a possible relationship between reading impairment and its hypothesised neural correlates by using fMRI and a reading task. The multiple-case study revealed that the neural correlates of reading in dyslexia in all cases are not in agreement with the predictions of a single theory. The results show striking individual differences - even, where the neural correlates of reading in two DPs are consistent with the same theory, the areas can differ. A DP can exhibit under-engagement in an area in word, but not in pseudoword reading and vice versa, demonstrating that underactivation in that area cannot be interpreted as a ‘developmental lesion’. Additional analyses revealed complex results. Within-group analyses between behavioural measures and BOLD showed correlations in the predicted regions, areas outside ROI, and lack of correlations in some predicted areas. Comparisons of subgroups which differed on Orthography Composite supported the MDT, but only for Words. The results suggest that phonological scores are not a sufficient predictor of the under-engagement of phonological areas during reading. DPs and CPs exhibited correlations between Purdue Pegboard Composite and BOLD in cerebellar areas only for Pseudowords. Future research into reading in dyslexia should use a more holistic approach, involving genetic and environmental factors, gene by environment interaction, and comorbidity with other disorders. It is argued that multidisciplinary research, within the multiple-deficit model holds significant promise here.