In the loop: a social network approach to the willingness to communicate in the L2 (L2 WTC)

Despite the conceptual importance of investigating the social context(s) in which second-language (L2) learning and use take place, the decade-old “social turn” within the field of second-language acquisition (SLA) has yet to produce a “parsimonious system of valid and generalizable parameters to describe contextual characteristics” (Dörnyei, 2009a, p. 238). Accordingly, investigating social network structure has recently been suggested as a general approach to examining the link between person and environment (Beckner, et al., 2009). In the current thesis, I offer a network approach in which second-language (L2) learning and use is regarded both as purposeful and as constrained by one’s social relationships. Subsequently, in a first-of-its-kind study within SLA, I apply social network analysis – a diverse array of formally-defined measures of social position and other socio-structural features – to conceptualize and empirically test the relationship between social structure and the willingness to communicate in the L2 (L2 WTC), defined as the “readiness to enter into discourse at a particular time with a specific person or persons, using a L2” (MacIntyre, et al., 1998, p. 547). In a study of Chinese-speaking international students at a British university, trait-like L2 WTC is found to predict cross-cultural adjustment, suggesting the role of actively engaging with one’s new cultural surroundings in establishing an adaptive person-environment fit. Subsequently, in the first study to apply modern, graph-theoretic notions of social position to a network of L2 learners, a significant relationship is found between various notions of structural position among a network of international English-for-Academic-Purposes students, and dispositional L2 WTC. Overall, the results support L2 WTC as both purposeful and constrained, learned from one’s past interactions, yet pushing the individual to take advantage of opportunities to communicate in the L2. Implications, limitations, and future directions of a social network approach to L2 learning and use are also discussed

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tiina Paunio on työryhmän UK10K jäsen.The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.Peer reviewe

Whole-genome sequence-based analysis of thyroid function

Tiina Paunio on työryhmän UK10K Consortium jäsen.Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N = 2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF >= 1%) associated with TSH and FT4 (N = 16,335). For TSH, we identify a novel variant in SYN2 (MAF = 23.5%, P = 6.15 x 10(-9)) and a new independent variant in PDE8B (MAF = 10.4%, P = 5.94 x 10(-14)). For FT4, we report a low-frequency variant near B4GALT6/ SLC25A52 (MAF = 3.2%, P = 1.27 x 10(-9)) tagging a rare TTR variant (MAF = 0.4%, P = 2.14 x 10(-11)). All common variants explain >= 20% of the variance in TSH and FT4. Analysis of rare variants (MAFPeer reviewe

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

From Complex Interventions to Complex Systems: Using Social Network Analysis to Understand School Engagement with Health and Wellbeing

Challenges in changing school system functioning to orient them towards health are commonly underestimated. Understanding the social interactions of school staff from a complex systems perspective may provide valuable insight into how system dynamics may impede or facilitate the promotion of health and wellbeing. Ego social network analysis was employed with wellbeing leads within four diverse case study schools to identify variability in embeddedness of health and wellbeing roles. This variation, as well as the broader context, was then explored through semi-structured qualitative interviews with school staff and a Healthy Schools Coordinator, sampled from the wellbeing leads’ ego-networks. Networks varied in terms of perceived importance and frequency of interactions, centrality, brokerage and cliques. Case study schools that showed higher engagement with health and wellbeing had highly organised, distributed leadership structures, dedicated wellbeing roles, senior leadership support and outside agencies embedded within school systems. Allocation of responsibility for wellbeing to a member of the senior leadership team alongside a distributed leadership approach may facilitate the reorientation of school systems towards health and wellbeing. Ego-network analysis to understand variance in complex school system starting points could be replicated on a larger scale and utilised to design complex interventions

Separation and reunification in disasters: the importance of understanding the psycho-social consequences

Abstract not available

Disability, Development and the Biotechnologies

Rachel Hurst argues that disabled people should have the same rights as other humans, and questions moves to select and manipulate genetically in order to create ‘perfect’ beings. She underlines that disabled people contribute difference and genetic diversity, which are necessary for continued human development. Development (2006) 49, 101–106. doi:10.1057/palgrave.development.1100320

Problem alcohol use among problem drug users : development of clinical guidelines for general practice

Abstract for presentation at AUDGPI Annual Scientific Meeting, Dublin, Ireland, 9th March 2012Introduction: Problem alcohol use is common and associated with considerable adverse health and social outcomes among patients who attend GPs in Ireland and other European countries for opioid substitution treatment. This paper aims to describe the development and content of clinical guidelines for the management of problem alcohol use among current or former opioid users attending general practice for methadone treatment. Methods: The guidelines were developed in several stages: i) identification of key stakeholders; ii) development of evidence-based draft guidelines, and iii)determination of a modified ‘Delphi-facilitated’ consensus among the group members. These guidelines were informed by a review of scientific evidence and a qualitative study, results of which will be presented also at this conference. Results: The guidelines incorporate advice for GPs on all aspects of care of this problem, including i) definition of problem alcohol use among problem drug users, ii) screening / identification of problem alcohol use, iii) interventions for treatment and management of problem alcohol use, iv) referral to secondary services and v) role of GPs in the management of persistent problem alcohol use and on-going care. Conclusions: General practice has an important role to play in the care of problem alcohol use among problem drug users, especially patients who attend for methadone treatment. Further research on strategies to inform the implementation of this study is a priority.Health Research Boardau, ti, ke - TS 24.04.1