Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Aim: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. Method: Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). Results: In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. Interpretation: The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

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.

Tense, aspect and modality in first and second language

Time after time… and aspect and mood. Over the last twenty five years, the study of time, aspect and - to a lesser extent - mood acquisition has enjoyed increasing popularity and a constant widening of its scope. In such a teeming field, what can be the contribution of this book? We believe that it is unique in several respects. First, this volume encompasses studies from different theoretical frameworks: functionalism vs generativism or function-based vs form-based approaches. It also brings together various sub-fields (first and second language acquisition, child and adult acquisition, bilingualism) that tend to evolve in parallel rather than learn from each other. A further originality is that it focuses on a wide range of typologically different languages, and features less studied languages such as Korean and Bulgarian. Finally, the book gathers some well-established scholars, young researchers, and even research students, in a rich inter-generational exchange, that ensures the survival but also the renewal and the refreshment of the discipline. The book at a glance The first part of the volume is devoted to the study of child language acquisition in monolingual, impaired and bilingual acquisition, while the second part focuses on adult learners. In this section, we will provide an overview of each chapter. The first study by Aviya Hacohen explores the acquisition of compositional telicity in Hebrew L1. Her psycholinguistic approach contributes valuable data to refine theoretical accounts. Through an innovating methodology, she gathers information from adults and children on the influence of definiteness, number, and the mass vs countable distinction on the constitution of a telic interpretation of the verb phrase. She notices that the notion of definiteness is mastered by children as young as 10, while the mass/count distinction does not appear before 10;7. However, this does not entail an adult-like use of telicity. She therefore concludes that beyond definiteness and noun type, pragmatics may play an important role in the derivation of Hebrew compositional telicity. For the second chapter we move from a Semitic language to a Slavic one. Milena Kuehnast focuses on the acquisition of negative imperatives in Bulgarian, a form that presents the specificity of being grammatical only with the imperfective form of the verb. The study examines how 40 Bulgarian children distributed in two age-groups (15 between 2;11-3;11, and 25 between 4;00 and 5;00) develop with respect to the acquisition of imperfective viewpoints, and the use of imperfective morphology. It shows an evolution in the recourse to expression of force in the use of negative imperatives, as well as the influence of morphological complexity on the successful production of forms. With Yi-An Lin’s study, we concentrate both on another type of informant and of framework. Indeed, he studies the production of children suffering from Specific Language Impairment (SLI), a developmental language disorder the causes of which exclude cognitive impairment, psycho-emotional disturbance, and motor-articulatory disorders. Using the Leonard corpus in CLAN, Lin aims to test two competing accounts of SLI (the Agreement and Tense Omission Model [ATOM] and his own Phonetic Form Deficit Model [PFDM]) that conflicts on the role attributed to spellout in the impairment. Spellout is the point at which the Computational System for Human Language (CHL) passes over the most recently derived part of the derivation to the interface components, Phonetic Form (PF) and Logical Form (LF). ATOM claims that SLI sufferers have a deficit in their syntactic representation while PFDM suggests that the problem only occurs at the spellout level. After studying the corpus from the point of view of tense / agreement marking, case marking, argument-movement and auxiliary inversion, Lin finds further support for his model. Olga Gupol, Susan Rohstein and Sharon Armon-Lotem’s chapter offers a welcome bridge between child language acquisition and multilingualism. Their study explores the influence of intensive exposure to L2 Hebrew on the development of L1 Russian tense and aspect morphology through an elicited narrative. Their informants are 40 Russian-Hebrew sequential bilingual children distributed in two age groups 4;0 – 4;11 and 7;0 - 8;0. They come to the conclusion that bilingual children anchor their narratives in perfective like monolinguals. However, while aware of grammatical aspect, bilinguals lack the full form-function mapping and tend to overgeneralize the imperfective on the principles of simplicity (as imperfective are the least morphologically marked forms), universality (as it covers more functions) and interference. Rafael Salaberry opens the second section on foreign language learners. In his contribution, he reflects on the difficulty L2 learners of Spanish encounter when it comes to distinguishing between iterativity (conveyed with the use of the preterite) and habituality (expressed through the imperfect). He examines in turn the theoretical views that see, on the one hand, habituality as part of grammatical knowledge and iterativity as pragmatic knowledge, and on the other hand both habituality and iterativity as grammatical knowledge. He comes to the conclusion that the use of preterite as a default past tense marker may explain the impoverished system of aspectual distinctions, not only at beginners but also at advanced levels, which may indicate that the system is differentially represented among L1 and L2 speakers. Acquiring the vast array of functions conveyed by a form is therefore no mean feat, as confirmed by the next study. Based on the prototype theory, Kathleen Bardovi-Harlig’s chapter focuses on the development of the progressive in L2 English. It opens with an overview of the functions of the progressive in English. Then, a review of acquisition research on the progressive in English and other languages is provided. The bulk of the chapter reports on a longitudinal study of 16 learners of L2 English and shows how their use of the progressive expands from the prototypical uses of process and continuousness to the less prototypical uses of repetition and future. The study concludes that the progressive spreads in interlanguage in accordance with prototype accounts. However, it suggests additional stages, not predicted by the Aspect Hypothesis, in the development from activities and accomplishments at least for the meaning of repeatedness. A similar theoretical framework is adopted in the following chapter, but it deals with a lesser studied language. Hyun-Jin Kim revisits the claims of the Aspect Hypothesis in relation to the acquisition of L2 Korean by two L1 English learners. Inspired by studies on L2 Japanese, she focuses on the emergence and spread of the past / perfective marker ¬–ess- and the progressive – ko iss- in the interlanguage of her informants throughout their third and fourth semesters of study. The data collected through six sessions of conversational interviews and picture description tasks seem to support the Aspect Hypothesis. Indeed learners show a strong association between past tense and accomplishments / achievements at the start and a gradual extension to other types; a limited use of past / perfective marker with states and an affinity of progressive with activities / accomplishments and later achievements. In addition, - ko iss– moves from progressive to resultative in the specific category of Korean verbs meaning wear / carry. While the previous contributions focus on function, Evgeniya Sergeeva and Jean-Pierre Chevrot’s is interested in form. The authors explore the acquisition of verbal morphology in L2 French by 30 instructed native speakers of Russian distributed in a low and high levels. They use an elicitation task for verbs with different models of stem alternation and study how token frequency and base forms influence stem selection. The analysis shows that frequency affects correct production, especially among learners with high proficiency. As for substitution errors, it appears that forms with a simple structure are systematically more frequent than the target form they replace. When a complex form serves as a substitute, it is more frequent only when it is replacing another complex form. As regards the use of base forms, the 3rd person singular of the present – and to some extent the infinitive – play this role in the corpus. The authors therefore conclude that the processing of surface forms can be influenced positively or negatively by the frequency of the target forms and of other competing stems, and by the proximity of the target stem to a base form. Finally, Martin Howard’s contribution takes up the challenge of focusing on the poorer relation of the TAM system. On the basis of L2 French data obtained through sociolinguistic interviews, he studies the expression of futurity, conditional and subjunctive in three groups of university learners with classroom teaching only (two or three years of university teaching) or with a mixture of classroom teaching and naturalistic exposure (2 years at University + 1 year abroad). An analysis of relative frequencies leads him to suggest a continuum of use going from futurate present to conditional with past hypothetic conditional clauses in si, which needs to be confirmed by further studies. Acknowledgements The present volume was inspired by the conference Acquisition of Tense – Aspect – Mood in First and Second Language held on 9th and 10th February 2008 at Aston University (Birmingham, UK) where over 40 delegates from four continents and over a dozen countries met for lively and enjoyable discussions. This collection of papers was double peer-reviewed by an international scientific committee made of Kathleen Bardovi-Harlig (Indiana University), Christine Bozier (Lund Universitet), Alex Housen (Vrije Universiteit Brussel), Martin Howard (University College Cork), Florence Myles (Newcastle University), Urszula Paprocka (Catholic University of Lublin), †Clive Perdue (Université Paris 8), Michel Pierrard (Vrije Universiteit Brussel), Rafael Salaberry (University of Texas at Austin), Suzanne Schlyter (Lund Universitet), Richard Towell (Salford University), and Daniel Véronique (Université d’Aix-en-Provence). We are very much indebted to that scientific committee for their insightful input at each step of the project. We are also thankful for the financial support of the Association for French Language Studies through its workshop grant, and to the Aston Modern Languages Research Foundation for funding the proofreading of the manuscript.

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.

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure

Independent studies have shown that candidate genes for dyslexia and specific language impairment (SLI) impact upon reading/language-specific traits in the general population. To further explore the effect of disorder-associated genes on cognitive functions, we investigated whether they play a role in broader cognitive traits. We tested a panel of dyslexia and SLI genetic risk factors for association with two measures of general cognitive abilities, or IQ, (verbal and non-verbal) in the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort (N>5,000). Only the MRPL19/C2ORF3 locus showed statistically significant association (minimum P = 0.00009) which was further supported by independent replications following analysis in four other cohorts. In addition, a fifth independent sample showed association between the MRPL19/C2ORF3 locus and white matter structure in the posterior part of the corpus callosum and cingulum, connecting large parts of the cortex in the parietal, occipital and temporal lobes. These findings suggest that this locus, originally identified as being associated with dyslexia, is likely to harbour genetic variants associated with general cognitive abilities by influencing white matter structure in localised neuronal regions.

The Aston Medication Adherence Study:mapping the adherence patterns of an inner-city population

Background: The Aston Medication Adherence Study was designed to examine non-adherence to prescribed medicines within an inner-city population using general practice (GP) prescribing data. Objective: To examine non-adherence patterns to prescribed oralmedications within three chronic disease states and to compare differences in adherence levels between various patient groups to assist the routine identification of low adherence amongst patients within the Heart of Birmingham teaching Primary Care Trust (HoBtPCT). Setting: Patients within the area covered by HoBtPCT (England) prescribed medication for dyslipidaemia, type-2 diabetes and hypothyroidism, between 2000 and 2010 inclusively. HoBtPCT's population was disproportionately young,with seventy per cent of residents fromBlack and Minority Ethnic groups. Method: Systematic computational analysis of all medication issue data from 76 GP surgeries dichotomised patients into two groups (adherent and non-adherent) for each pharmacotherapeutic agent within the treatment groups. Dichotomised groupings were further analysed by recorded patient demographics to identify predictors of lower adherence levels. Results were compared to an analysis of a self-reportmeasure of adherence [using the Modified Morisky Scale© (MMAS-8)] and clinical value data (cholesterol values) from GP surgery records. Main outcome: Adherence levels for different patient demographics, for patients within specific longterm treatment groups. Results: Analysis within all three groups showed that for patients with the following characteristics, adherence levels were statistically lower than for others; patients: younger than 60 years of age; whose religion is coded as "Islam"; whose ethnicity is coded as one of the Asian groupings or as "Caribbean", "Other Black" and "African"; whose primary language is coded as "Urdu" or "Bengali"; and whose postcodes indicate that they live within the most socioeconomically deprived areas of HoBtPCT. Statistically significant correlations between adherence status and results from the selfreport measure of adherence and of clinical value data analysis were found. Conclusion: Using data fromGP prescribing systems, a computerised tool to calculate individual adherence levels for oral pharmacotherapy for the treatment of diabetes, dyslipidaemia and hypothyroidism has been developed.The tool has been used to establish nonadherence levels within the three treatment groups and the demographic characteristics indicative of lower adherence levels, which in turn will enable the targeting of interventional support within HoBtPCT. © Koninklijke Nederlandse Maatschappij ter bevordering der Pharmacie 2013.

Maintenance of communication in primary classrooms : some evidence for the role of elicitation and code-switching in English medium schools in Kenya, with implications for teaching

This is a study of specific aspects of classroom interaction primary school level in Kenya. The study entailed the identification of the sources of particular communication problems during the change-over period from Kiswahili to English medium teaching in two primary schools. There was subsequently an examination of the language resources which were employed by teachers to maintain pupil participation in communication in the light of the occurrence of possibility of occurrence of specific communication problems. The language resources which were found to be significant in this regard concerned firstly the use of different elicitation types by teachers to stimulate pupils into giving responses and secondly teachers' recourse to code-switching from English to Kiswahili and vice-versa. It was also found in this study that although the use of English as the medium of instruction in the classrooms which were observed resulted in certain communication problems, some of these problems need not have arisen if teachers had been more careful in their use of language. The consideration of this finding, after taking into account the role of different elicitation types and code-switching as interpretable from data samples had certain implications which are specified in the study for teaching in Kenyan primary schools. The corpus for the study consisted of audio-recordings of English, Science and Number-Work lessons which were later transcribed. Relevant data samples were subsequently extracted from transcripts for analysis. Many of the samples have examples of cases of communication breakdowns, but they also illustrate how teachers maintained interaction with pupils who had yet to acquire an operational mastery of English. This study thus differs from most studies on classroom interaction because of its basic concern with the examination of the resources available to teachers for overcoming the problem areas of classroom communication.

The role of the English language in the context of national development vision 2025 with specific reference to agriculture in Tanzania

After thirty years of vacillation, the Tanzanian government has made a firm decision to Swahilize its secondary education system. It has also embarked on an ambitious economic and social development programme (Vision 2025) to transform its peasant society into a modern agricultural community. However, there is a faction in Tanzania opposed to Kiswahili as the medium of education. Already many members of the middle and upper class their children to English medium primary schools to avoid the Kiswahili medium public schools and to prepare their children for the English medium secondary system presently in place. Within the education system, particularly at university level, there is a desire to maintain English as the medium of education. English is seen to provide access to the international scientific community, to cutting edge technology and to the global economy. My interest in this conflict of interests stems from several years' experience teaching English to students at Sokoine University of Agriculture. Students specialise in agriculture and are expected to work with the peasant population on graduation. The students experience difficulties studying in English and then find their Kiswahili skills insufficient to explain to farmers the new techniques and technologies that they have studied in English. They are hampered by a complex triglossic situation in which they use their mother tongue with family and friends, Kiswahili, the national language for early education and most public communication within Tanzania, and English for advanced studies. My aim in this thesis was - to study the language policy in Tanzania and see how it is understood and implemented; - to examine the attitudes towards the various languages and their various roles; - to investigate actual language behaviour in Tanzanian higher education. My conclusion is that the dysfunctionality of the present study has to be addressed. Diglossic public life in Tanzania has to be accommodated. The only solution appears to be a compromise, namely a bilingual education system which supports from all cases of society by using Kiswahili, together with an early introduction of English and its promotion as a privileged foreign language, so that Tanzania can continue to develop internally through Kiswahili and at the same time retain access to the globalising world through the medium of English.

Probing the neurocognitive trajectories of children's reading skills

Emerging evidence of the high variability in the cognitive skills and deficits associated with reading achievement and dysfunction promotes both a more dimensional view of the risk factors involved, and the importance of discriminating between trajectories of impairment. Here we examined reading and component orthographic and phonological skills alongside measures of cognitive ability and auditory and visual sensory processing in a large group of primary school children between the ages of 7 and 12 years. We identified clusters of children with pseudoword or exception word reading scores at the 10th percentile or below relative to their age group, and a group with poor skills on both tasks. Compared to age-matched and reading-level controls, groups of children with more impaired exception word reading were best described by a trajectory of developmental delay, whereas readers with more impaired pseudoword reading or combined deficits corresponded more with a pattern of atypical development. Sensory processing deficits clustered within both of the groups with putative atypical development: auditory discrimination deficits with poor phonological awareness skills; impairments of visual motion processing in readers with broader and more severe patterns of reading and cognitive impairments. Sensory deficits have been variably associated with developmental impairments of literacy and language; these results suggest that such deficits are also likely to cluster in children with particular patterns of reading difficulty. © 2012 Elsevier Ltd.