Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity

Aberrant connectivity is implicated in many neurological and psychiatric disorders, including Alzheimer's disease and schizophrenia. However, other than a few disease-associated candidate genes, we know little about the degree to which genetics play a role in the brain networks; we know even less about specific genes that influence brain connections. Twin and family-based studies can generate estimates of overall genetic influences on a trait, but genome-wide association scans (GWASs) can screen the genome for specific variants influencing the brain or risk for disease. To identify the heritability of various brain connections, we scanned healthy young adult twins with high-field, highangular resolution diffusion MRI. We adapted GWASs to screen the brain's connectivity pattern, allowing us to discover genetic variants that affect the human brain's wiring. The association of connectivity with the SPON1 variant at rs2618516 on chromosome 11 (11p15.2) reached connectome-wide, genome-wide significance after stringent statistical corrections were enforced, and it was replicated in an independent subsample. rs2618516 was shown to affect brain structure in an elderly population with varying degrees of dementia. Older people who carried the connectivity variant had significantly milder clinical dementia scores and lower risk of Alzheimer's disease. As a posthoc analysis, we conducted GWASs on several organizational and topological network measures derived from the matrices to discover variants in and around genes associated with autism (MACROD2), development (NEDD4), and mental retardation (UBE2A) significantly associated with connectivity. Connectome-wide, genome-wide screening offers substantial promise to discover genes affecting brain connectivity and risk for brain diseases.

Diffusion indices on magnetic resonance imaging and neuropsychological performance in amnestic mild cognitive impairment

Background: Magnetic resonance diffusion tensor imaging (DTI) shows promise in the early detection of microstructural pathophysiological changes in the brain. Objectives: To measure microstructural differences in the brains of participants with amnestic mild cognitive impairment (MCI) compared with an age-matched control group using an optimised DTI technique with fully automated image analysis tools and to investigate the correlation between diffusivity measurements and neuropsychological performance scores across groups. Methods: 34 participants (17 participants with MCI, 17 healthy elderly adults) underwent magnetic resonance imaging (MRI)-based DTI. To control for the effects of anatomical variation, diffusion images of all participants were registered to standard anatomical space. Significant statistical differences in diffusivity measurements between the two groups were determined on a pixel-by-pixel basis using gaussian random field theory. Results: Significantly raised mean diffusivity measurements (p<0.001) were observed in the left and right entorhinal cortices (BA28), posterior occipital-parietal cortex (BA18 and BA19), right parietal supramarginal gyrus (BA40) and right frontal precentral gyri (BA4 and BA6) in participants with MCI. With respect to fractional anisotropy, participants with MCI had significantly reduced measurements (p<0.001) in the limbic parahippocampal subgyral white matter, right thalamus and left posterior cingulate. Pearson's correlation coefficients calculated across all participants showed significant correlations between neuropsychological assessment scores and regional measurements of mean diffusivity and fractional anisotropy. Conclusions: DTI-based diffusivity measures may offer a sensitive method of detecting subtle microstructural brain changes associated with preclinical Alzheimer's disease.

Reconnecting theory and practice in pluralistic contexts: Issues and Aristotelian considerations

The purpose of this article is to contribute, from a research practitioner perspective, to the theory–practice gap debate in organization studies, focusing on pluralistic contexts such as project organizing. The current debate is introduced; then the features of the two main philosophical traditions (i.e., modernism and postmodernism) are critically summarized. Then, propositions to reconnect theory and practice according to the Aristotelian premodern ethical and practical philosophy are discussed. Some key implications in the following areas are outlined: roles played by practitioners and scholars; emancipatory praxeological style of reasoning; closing the “phronetic gap”; and the development of “good practice,” ethics, and politics.

In search of good probability assessors: An experimental comparison of elicitation rules for confidence judgments

In this paper, we use an experimental design to compare the performance of elicitation rules for subjective beliefs. Contrary to previous works in which elicited beliefs are compared to an objective benchmark, we consider a purely subjective belief framework (confidence in one’s own performance in a cognitive task and a perceptual task). The performance of different elicitation rules is assessed according to the accuracy of stated beliefs in predicting success. We measure this accuracy using two main factors: calibration and discrimination. For each of them, we propose two statistical indexes and we compare the rules’ performances for each measurement. The matching probability method provides more accurate beliefs in terms of discrimination, while the quadratic scoring rule reduces overconfidence and the free rule, a simple rule with no incentives, which succeeds in eliciting accurate beliefs. Nevertheless, the matching probability appears to be the best mechanism for eliciting beliefs due to its performances in terms of calibration and discrimination, but also its ability to elicit consistent beliefs across measures and across tasks, as well as its empirical and theoretical properties.

Review: Let's talk kinship: Innovating Australian social work education, theory, research and practice through Aboriginal knowledge

Review(s) of: Let's talk kinship: Innovating Australian social work education, theory, research and practice through Aboriginal knowledge, by Christine Fejo-King, published by Christine Fejo-King Consulting, ISBN: 978-0-9922814-0-3.

No Exit from the gaze: Sartre’s theory facilitated through aspects of Meisner’s practice

This article explores the theory/practice nexus in performance and considers a method for the transfer of theory in rehearsal and performance. In a 2011 production of Jean-Paul Sartre’s "No Exit", rehearsal, performance and post-performance exercises were devised to facilitate an understanding of Sartre’s existential concepts for audiences based on Sanford Meisner’s techniques. In this production, Sartre’s theory of “the gaze” was “practiced” by actors and audience members opening up new perspectives on the conflation of theory and practice in theatre productions.

The paradox of creative uncertainty in learning and teaching

In an ever-changing and globalised world there is a need for higher education to adapt and evolve its models of learning and teaching. The old industrial model has lost traction, and new patterns of creative engagement are required. These new models potentially increase relevancy and better equip students for the future. Although creativity is recognised as an attribute that can contribute much to the development of these pedagogies, and creativity is valued by universities as a graduate capability, some educators understandably struggle to translate this vision into practice. This paper reports on selected survey findings from a mixed methods research project which aimed to shed light on how creativity can be designed for in higher education learning and teaching settings. A social constructivist epistemology underpinned the research and data was gathered using survey and case study methods. Descriptive statistical methods and informed grounded theory were employed for the analysis reported here. The findings confirm that creativity is valued for its contribution to the development of students’ academic work, employment opportunities and life in general; however, tensions arise between individual educator’s creative pedagogical goals and the provision of institutional support for implementation of those objectives. Designing for creativity becomes, paradoxically, a matter of navigating and limiting complexity and uncertainty, while simultaneously designing for those same states or qualities.

Neo-Piagetian Theory and the novice programmer

This PhD project studied the genetic epistemology of novice programmers, and provides empirical evidence that the development of programming skills can be described using the neo-Piagetian cognitive development framework. The thesis identifies the manifestations of each of the early neo-Piagetian stages of development in the programming domain – that is: sensorimotor, preoperational and concrete operational. This research informs not only tertiary pedagogy, but teaching and learning of computer programming in any setting. It will enable educators to (a) identify the developmental stage of their students, (b) provide stage-appropriate learning resources and (c) assist students in transitioning to the next more mature stage of reasoning.

The information experience of new mothers in social media: A grounded theory study

This constructivist grounded theory study investigated the nature of new mothers' information experience in social media. The findings provide a holistic view of the phenomenon and the resultant substantive grounded theory describes new mothers' information experience in social media as a complex, multi-layered, and highly contextualised phenomenon. It encapsulates multiple individual experiences of information, and is broader and deeper than the individual experiences it is comprised of. The theory incorporates the characteristics, dimensions and categories of experience to provide a holistic view of new mothers' information experience in social media.