Variable phenotype in 16p duplication within a family

Background More individuals are now being identified with very rare genetic syndromes. We present a family with an inherited duplication of 16p11.2 to 16q12.1 in ring formation. Three of the four children, (aged 15 months to 10 years), mother, uncle, and grandmother are affected. Our aim was to provide preliminary evidence of possible phenotypic patterns of learning and behaviour associated with this chromosome anomaly. Method Psychometric assessments were undertaken with all four children. The mother and uncle also agreed to participate in the study. Measures of development (Bayley or Mullen), intellectual ability (WISC-IV or WAIS-III), academic achievement (WIAT-II), adaptive behaviour (Vinelands), and other relevant aspects of functioning (e.g., Children’s Memory Scale) were administered. Results. The first-born child is the only one who is unaffected. Her intellectual ability was assessed as being within the superior range. The second child experienced early difficulties with speech and motor skills. Although his intelligence is average, he has learning difficulties and significant auditory memory problems. The third child’s speech and motor milestones were markedly delayed. He has a complex medical history that includes a vitamin B12 deficiency. On the Mullen Scales at age 4 his scores ranged from average to very low. The development of the youngest child (aged 15 months), who also had a B12 deficiency but was treated early, was assessed as being within typical limits. Conclusions There is considerable developmental variability among the three children with this inherited 16p duplication. We discuss the intriguing similarities and differences, considering common features that may reflect phenotypic patterns and speculating about possible explanations for the variable presentations.

A survey of patients' experience of pain and other symptoms while receiving care from palliative care services

Context In Australia, patients at the end of life with complex symptoms and needs are often referred to palliative care services (PCSs), but little is known about the symptoms of patients receiving palliative care in different settings. Objective To explore patients’ levels of pain and other symptoms while receiving care from PCSs. Method PCSs registered through Australia's national Palliative Care Outcomes Collaboration (PCOC) were invited to participate in a survey between 2008 and 2011. Patients (or if unable, a proxy) were invited to complete the Palliative Care Outcome Scale. Results Questionnaires were completed for 1800 patients. One-quarter of participants reported severe pain, 20% reported severe ‘other symptoms’, 20% reported severe patient anxiety, 45% reported severe family anxiety, 66% experienced depressed feelings and 19% reported severe problems with self-worth. Participants receiving care in major cities reported higher levels of depressed feelings than participants in inner regional areas. Participants receiving care in community and combined service settings reported higher levels of need for information, more concerns about wasted time, and lower levels of family anxiety and depressed feelings when compared to inpatients. Participants in community settings had lower levels of concern about practical matters than inpatients. Conclusions Patients receiving care from Australian PCSs have physical and psychosocial concerns that are often complex and rated as ‘severe’. Our findings highlight the importance of routine, comprehensive assessment of patients’ concerns and the need for Specialist Palliative Care clinicians to be vigilant in addressing pain and other symptoms in a timely, systematic and holistic manner, whatever the care setting.

Cultural policy and Australia's national cultural heritage: Issues and challenges in the GLAM landscape

In 2012 the Australian Commonwealth government was scheduled to release the first dedicated policy for culture and the arts since the Keating government's Creative Nation (1994). Investing in a Creative Australia was to appear after a lengthy period of consultation between the Commonwealth government and all interested cultural sectors and organisations. When it eventuates, the policy will be of particular interest to those information professionals working in the GLAM (galleries, libraries, archives and museums) environment. GLAM is a cross-institutional field which seeks to find points of commonality among various cultural-heritage institutions, while still recognising their points of difference. Digitisation, collaboration and convergence are key themes and characteristics of the GLAM sector and its associated theoretical discipline. The GLAM movement has seen many institutions seeking to work together to create networks of practice that are beneficial to the cultural-heritage industry and sector. With a new Australian cultural policy imminent, it is timely to reflect on the issues and challenges that GLAM principles present to national cultural-heritage institutions by discussing their current practices. In doing so, it is possible to suggest productive ways forward for these institutions which could then be supported at a policy level by the Commonwealth government. Specifically, this paper examines four institutions: the National Gallery of Australia, the National Library of Australia, the National Archives of Australia and the National Museum of Australia. The paper reflects on their responses to the Commonwealth's 2011 Cultural Policy Discussion Paper. It argues that by encouraging and supporting collecting institutions to participate more fully in GLAM practices the Commonwealth government's cultural policy would enable far greater public access to, and participation in, Australia's cultural heritage. Furthermore, by considering these four institutions, the paper presents a discussion of the challenges and the opportunities that GLAM theoretical and disciplinary principles present to the cultural-heritage sector. Implications for Best Practice * GLAM is a developing field of theory and practice that encompasses many issues and challenges for practitioners in this area. * GLAM principles and practices are increasingly influencing the cultural-heritage sector. * Cultural policy is a key element in shaping the future of Australia's cultural-heritage sector and needs to incorporate GLAM principles.

Feasibility and acceptability of wrist actigraph in assessing sleep quality and sleep quantity: A home-based pilot study in healthy volunteers

Purpose This study aimed to determine the feasibility and acceptability of actigraphy to monitor sleep quality and quantity in healthy self-rated good sleeper adults at home-based settings. Method Sixteen healthy volunteers (age > 18) were invited to participate. Each participant was provided with a wrist actigraph device to be worn for 24-hour/day for seven consecutive days to monitor their sleep-wake patterns. Actigraphy data were downloaded using-proprietary software to generate an individual-sleep report. Participants also completed a set of self-reported Health Related Quality of Life (HRQOL) using WHO (five) Well Being Index (WBI) questionnaires. Results Actigraphy was well accepted by all participants. Only 43.8% of the participants achieved normal total sleep time (TST) and 62.5% had a mean sleep efficiency value below the normal range. Despite a reduced quality of sleep among the participants, the self-reported HRQOL scores produced by the WHO-5 WBI showed a “fair” to “good” among the participants. Conclusions To maintain healthy well-being, it is vital to have efficient and quality sleep. Insufficient and poor sleep may contribute to various health problems and hazardous outcomes. People often believe they have normal and efficient sleep, not realising they may be developing poor sleep habits. This study found that actigraphy can be easily utilized to monitor sleep-wake patterns at home-based settings. We proposed that actigraphy could be adapted for use in the primary care settings (e.g. community pharmacy) to improve the sleep health management in the community.

Defining the InstaBooth: Facilitating debate and content creation from situated users

Through ubiquitous computing and location-based social media, information is spreading outside the traditional domains of home and work into the urban environment. Digital technologies have changed the way people relate to the urban form supporting discussion on multiple levels, allowing more citizens to be heard in new ways (Fredericks et al. 2013; Houghton et al. 2014; Caldwell et al. 2013). Face-to-face and digitally mediated discussions, facilitated by tangible and hybrid interaction, such as multi-touch screens and media façades, are initiated through a telephone booth inspired portable structure: The InstaBooth. The InstaBooth prototype employs a multidisciplinary approach to engage local communities in a situated debate on the future of their urban environment. With it, we capture citizens’ past stories and opinions on the use and design of public places. The way public consultations are currently done often engages only a section of the population involved in a proposed development; the more vocal citizens are not necessarily the more representative of the communities (Jenkins 2006). Alternative ways to engage urban dwellers in the debate about the built environment are explored at the moment, including the use of social media or online tools (Foth 2009). This project fosters innovation by providing pathways for communities to participate in the decision making process that informs the urban form. The InstaBooth promotes dialogue and mediation between a bottom-up and a top-down approach to urban design, with the aim of promoting community connectedness with the urban environment. The InstaBooth provides an engagement and discussion platform that leverages a number of locally developed display and interaction technologies in order to facilitate a dialogue of ideas and commentary. The InstaBooth combines multiple interaction techniques into a hybrid (digital and analogue) media space. Through the InstaBooth, urban design and architectural proposals are displayed encouraging commentary from visitors. Inside the InstaBooth, visitors can activate a multi-touch screen in order to browse media, write a note, or draw a picture to provide feedback. The purpose of the InstaBooth is to engage with a broader section of society, including those who are often marginalised. The specific design of the internal and external interfaces, the mutual relationship between these interfaces with regards to information display and interaction, and the question how visitors can engage with the system, are part of the research agenda of the project.

Engaging nursing students in a bioscience unit using a web-based response system, GoSoapBox

Nursing students used GoSoapBox, a web-based student response system to poll responses to multiple choice questions (MCQs) presented during bioscience lectures. Participation in GoSoapBox appears to have facilitated student engagement, interaction and learning. The majority of students surveyed appreciated the immediate feedback to the student responses and being able to participate anonymously. The use of this tool facilitated collaborative group and class discussion and clarification around any misconceptions or challenging concepts. Information collected using GoSoapBox provided the academic with feedback allowing for reflection, adjustment and improvement in framing of formative and summative MCQs.

Engaging nursing students in a bioscience unit using a web-based response system, GoSoapBox

Nursing students used GoSoapBox, a web-based student response system to poll responses to multiple choice questions (MCQs) presented during bioscience lectures. Participation in GoSoapBox appears to have facilitated student engagement, interaction and learning. The majority of students surveyed appreciated the immediate feedback to the student responses and being able to participate anonymously. The use of this tool facilitated collaborative group and class discussion and clarification around any misconceptions or challenging concepts. Information collected using GoSoapBox provided the academic with feedback allowing for reflection, adjustment and improvement in framing of formative and summative MCQs.

Smart Cities, Social Capital, and Citizens at Play: A Critique and a Way Forward

Digital transformations are not contained within the digital domain but are increasingly spilling over into the physical world. In this chapter, we analyse some of the transformations undergoing in cities today towards becoming smart cities. We offer a critique of smart cities and a way forward, divided into three parts: First, we explore the concept of Smart Citizens in terms of both localities, the move towards a hyperlocal network and also the citizen’s role in the creation and use of data. We use the ‘Smart London’ plan drawn up by the Mayor of London, as a way to illustrate our discussion. Second, we turn to the civic innovations enabled by digital transformations and their potential impact on citizens and citizenship. Specifically, we are interested in the notion of social capital as an alternative form of in-kind currency and its function as an indicator of value, in order to ask, can digital transformations give rise to ‘civic capital,’ and how can such a concept help, for instance, a local government invite more representative residents and community champions to participate in community engagement for better urban planning. Third, we introduce a hybrid, location-based game under development by design agency Preliminal Games in London, UK. This illustrative case critiques and highlights the current challenges to establishing a new economic model that bridges the digital / physical divide. The game provides a vehicle for us to explore how established principles and strategies in game design such as immersive storytelling and goal setting, can be employed to encourage players to think of the interconnections of their hybrid digital / physical environments in new ways.

Changes in disability, physical/mental health states and quality of life during an 8-Week multimodal physiotherapy programme in patients with chronic non-specific neck pain: A prospective cohort study

Aim The aim of this study was to analyse the effect of an 8-week multimodal physiotherapy programme (MPP), integrating physical land-based therapeutic exercise (TE), adapted swimming and health education, as a treatment for patients with chronic non-specific neck pain (CNSNP), on disability, general health/mental states and quality of life. Methods 175 CNSNP patients from a community-based centre were recruited to participate in this prospective study. Intervention: 60-minute session (30 minutes of land-based exercise dedicated to improving mobility, motor control, resistance and strengthening of the neck muscles, and 30 minutes of adapted swimming with aerobic exercise keeping a neutral neck position using a snorkel). Health education was provided using a decalogue on CNSNP and constant repetition of brief advice by the physiotherapist during the supervision of the exercises in each session. Study outcomes: primary: disability (Neck Disability Index); secondary: physical and mental health states and quality of life of patients (SF-12 and EuroQoL-5D respectively). Differences between baseline data and that at the 8-week follow-up were calculated for all outcome variables. Results Disability showed a significant improvement of 24.6% from a mean (SD) of 28.2 (13.08) at baseline to 16.88 (11.62) at the end of the 8-week intervention. All secondary outcome variables were observed to show significant, clinically relevant improvements with increase ranges between 13.0% and 16.3% from a mean of 0.70 (0.2) at baseline to 0.83 (0.2), for EuroQoL-5D, and from a mean of 40.6 (12.7) at baseline to 56.9 (9.5), for mental health state, at the end of the 8-week intervention. Conclusion After 8 weeks of a MPP that integrated land-based physical TE, health education and adapted swimming, clinically-relevant and statistically-significant improvements were observed for disability, physical and mental health states and quality of life in patients who suffer CNSNP. The clinical efficacy requires verification using a randomised controlled study design.

Pivotal people, pivotal journeys: Interim report on the impact of a fundraising study tour on CEOs and their organisations

A longitudinal qualitative study was conducted with CEOs of 12 fundraising organisations across Australia to answer the question - how mights a change in the CEO's fundraising knowledge improve fundraising activity and outcomes for their organisation? The CEOs along with the inaugural Australian Grantmaker of the Year, Caitriona Fay from Perpetual and lead researcher Dr Wendy Scaife travelled to San Antonio, Texas, USA to attend the annual Association of Fundraising Professionals (AFP) conference in March 2014. Participants identified five main success factors for such group learning initiatives about fundraising: - Getting away from the day to day business of running the organisation - Informal, social time to debrief and get to know others - Diversity of organisations whereby no one was in direct competition to others - Commitment, openness and willingness of individuals to participate - Group facilitation This research has been supported by the Perpetual Foundation – Trustees Endowment, The Edward Corbould Charitable Trust, and the Samuel and Eileen Gluyas Charitable Trust under the management of Perpetual Trustee Company Ltd.

Posters versus lurkers: Improving participation in enterprise social networks through promotional messages

Enterprise social networks (ESNs) often fail if there are few or no contributors of content. Promotional messages are among the common interventions used to improve participation. While most users only read others’ content (i.e. lurk), contributors who create content (i.e. post) account for only 1% of the users. Research on interventions to improve participation across dissimilar groups is scarce especially in work settings. We develop a model that examines four key motivations of posting and lurking. We employ the elaboration likelihood model to understand how promotional messages influence lurkers’ and posters’ beliefs and participation. We test our model with data collected from 366 members in two corporate Google⁺ communities in a large Australian retail organization. We find that posters and lurkers are motivated and hindered by different factors. Promotional messages do not – always – yield the hoped-for results among lurkers; however, they do make posters more enthusiastic to participate.

Storytelling and new media technologies: Investigating the potential of the ABC's Heywire for regional youth

This thesis investigates an instance of audience participation within the Australian public service media institution, the ABC. The case study for this research – the ABC’s ‘Heywire’ project – is a regional youth storytelling project, an online platform, and an example of the potentials as well as the limitations of personal narrative and digital technologies for incorporating the voices and self-representations of audiences. By investigating 'Heywire', this thesis illuminates the exciting opportunities and also some profound challenges that arise when public service media institutions invite their audiences to participate as content creators and storytellers.

Introducing the practice of statistics: are we environmentally friendly?

The practice of statistics is the focus of the world in which professional statisticians live. To understand meaningfully what this practice is about, students need to engage in it themselves. Acknowledging the limitations of a genuine classroom setting, this study attempted to expose four classes of year 5 students (n=91) to an authentic experience of the practice of statistics. Setting an overall context of people’s habits that are considered environmentally friendly, the students sampled their class and set criteria for being environmentally friendly based on questions from the Australian Bureau of Statistics CensusAtSchool site. They then analysed the data and made decisions, acknowledging their degree of certainty, about three populations based on their criteria: their class, year 5 students in their school and year 5 students in Australia. The next step was to collect a random sample the size of their class from an Australian Bureau of Statistics ‘population’, analyse it and again make a decision about Australian year 5 students. At the end, they suggested what further research they might do. The analysis of students’ responses gives insight into primary students’ capacity to appreciate and understand decision making, and to participate in the practice of statistics, a topic that has received very little attention in the literature. Based on the total possible score of 23 from student workbook entries, 80 % of students achieved at least a score of 11.

Postnatal depressive symptoms amongst women in Central Vietnam: A cross-sectional study investigating prevalence and associations with social, cultural and infant factors

Background This study investigated the prevalence and socio-cultural correlates of postnatal mood disturbance amongst women 18–45 years old in Central Vietnam. Son preference and traditional confinement practices were explored as well as factors such as poverty, parity, family and intimate partner relationships and infant health. Methods A cross-sectional study was conducted in twelve randomly selected Commune Health Centres from urban and rural districts of Thua Thien Hue Province, Vietnam. Mother-infant dyads one to six months postpartum were invited to participate. Questionnaires from 431 mothers (urban n = 216; rural n = 215) assessed demographic and family characteristics, traditional confinement practices, son preference, infant health and social capital. The Edinburgh Postnatal Depression Scale (EPDS) and WHO5 Wellbeing Index indicated depressive symptoms and emotional wellbeing. Data were analysed using general linear models. Results Using an EPDS cut-off of 12/13, 18.1 % (n = 78, 95 % CI 14.6 - 22.1) of women had depressive symptoms (20.4 % urban; 15.8 % rural). Contrary to predictions, infant gender and traditional confinement were unrelated to depressive symptoms. Poverty, food insecurity, being frightened of family members, and intimate partner violence increased both depressive symptoms and lowered wellbeing. The first model accounted for 30.2 % of the variance in EPDS score and found being frightened of one’s husband, husband’s unemployment, breastfeeding difficulties, infant diarrhoea, and cognitive social capital were associated with higher EPDS scores. The second model had accounted for 22 % of the variance in WHO5 score. Living in Hue city, low education, poor maternal competence and a negative family response to the baby lowered maternal wellbeing. Conclusions Traditional confinement practices and son preference were not linked to depressive symptoms among mothers, but were correlates of family relationships and wellbeing. Poverty, food insecurity, violence, infant ill health, and discordant intimate and family relationships were linked with depressive symptoms in Central Vietnam.

Rethinking Culture and Diversity in Early Childhood Preservice Teacher Education: Looking at Teaching and Learning Through an Interdisciplinary Lens

Early Childhood Education (ECE) has a long history of building foundations for children to achieve their full potential, enabling parents to participate in the economy while children are cared for, addressing poverty and disadvantage, and building individual, community and societal resources. In so doing, ECE has developed a set of cultural practices and ways of knowing that shape the field and the people who work within it. ECE, consequently, is frequently described as unique and special (Moss, 2006; Penn, 2011). This works to define and distinguish the field while, simultaneously, insulating it from other contexts, professions, and ideas. Recognising this dualism illuminates some of the risks and challenges of operating in an insular and isolated fashion. In the 21st century, there are new challenges for children, families and societies to which ECE must respond if it is to continue to be relevant. One major issue is how ECE contributes to transition towards more sustainable ways of living. Addressing this contemporary social problem is one from which Early Childhood teacher education has been largely absent (Davis & Elliott, 2014), despite the well recognised but often ignored role of education in contributing to sustainability. Because of its complexity, sustainability is sometimes referred to as a ‘wicked problem’ (Rittel & Webber, 1973; Australian Public Service Commission, 2007) requiring alternatives to ‘business as usual’ problem solving approaches. In this chapter, we propose that addressing such problems alongside disciplines other than Education enables the Early Childhood profession to have its eyes opened to new ways of thinking about our work, potentially liberating us from the limitations of our “unique” and idiosyncratic professional cultures. In our chapter, we focus on understandings of culture and diversity, looking to broaden these by exploring the different ‘cultures’ of the specialist fields of ECE and Design (in this project, we worked with students studying Architecture, Industrial Design, Landscape Architecture and Interior Design). We define culture not as it is typically represented, i.e. in relation to ideas and customs of particular ethnic and language groups, but to the ideas and practices of people working in different disciplines and professions. We assert that different specialisms have their own ‘cultural’ practices. Further, we propose that this kind of theoretical work helps us to reconsider ways in which ECE might be reframed and broadened to meet new challenges such as sustainability and as yet unknown future challenges and possibilities. We explore these matters by turning to preservice Early Childhood teacher education (in Australia) as a context in which traditional views of culture and diversity might be reconstructed. We are looking to push our specialist knowledge boundaries and to extend both preservice teachers and academics beyond their comfort zones by engaging in innovative interdisciplinary learning and teaching. We describe a case study of preservice Early Childhood teachers and designers working in collaborative teams, intersecting with a ‘real-world’ business partner. The joint learning task was the design of an early learning centre based on sustainable design principles and in which early Education for Sustainability (EfS) would be embedded Data were collected via focus group and individual interviews with students in ECE and Design. Our findings suggest that interdisciplinary teaching and learning holds considerable potential in dismantling taken-for-granted cultural practices, such that professional roles and identities might be reimagined and reconfigured. We conclude the chapter with provocations challenging the ways in which culture and diversity in the field of ECE might be reconsidered within teacher education.