In our own backyard: urban health inequities and Aboriginal experiences of neighbourhood life, social capital and racism.

This report is about Aboriginal and Torres Strait Islander people who live in urban areas. Thus it contributes to filling the gap in literature and knowledge about the health and everyday life experience of urban Indigenous peoples.This study, the Adelaide Aboriginal and Torres Strait Islander Health (AATSIH) project, was funded by the National Health and Medical Research Council (NHMRC) and focused on neighbourhood life, social capital, experiences of racism and health. This was a ‘companion’ project to another NHMRC project (the General Location and Health project (the General L&H project) – see Baum, Ziersch, Zhang et al, 2007) that explored neighbourhood life and social capital for the general population in four contrasting socio-economic areas in Adelaide

Exploring learning goals and assessment approaches for Indigenous health education : a qualitative study in Australia and New Zealand

In higher education, assessment is key to student learning. Assessments which promote critical thinking necessary for sustained learning beyond university are highly valued. However, the design of assessment tasks to achieve these types of thinking skills and dispositions to act in professional practice has received little attention. This research examines how academics design assessment to achieve these learning goals in Indigenous health education. Indigenous health education is an important area of learning for health practitioners to help address worldwide patterns of health inequities that exist for Indigenous people. We used a constructivist qualitative methodology to (i) explore learning goals and assessment strategies used in Indigenous health tertiary education and (ii) examine how they relate to higher education assessment ideals. Forty-one academics (from nine health disciplines) involved in teaching Indigenous health content participated in a semi-structured interview. Thematic analysis revealed learning goals to transform students’ perspectives and capacities to think critically and creatively about their role in Indigenous health. In contrast, assessment tasks encouraged more narrowly bounded thinking to analyse information about historical and socio-cultural factors contributing to Indigenous health. To transform students to be critical health practitioners capable of working and collaborating with Indigenous people to advance their health and well-being, the findings suggest that assessment may need to be nested across many aspects of the curriculum using a programmatic approach, and with a focus on learning to think and act for future practice. These findings accord with more recent calls for transformation of learning and assessment in health education. © 2017, Springer Science+Business Media Dordrecht

Exploring learning goals and assessment approaches for Indigenous health education : a qualitative study in Australia and New Zealand

In higher education, assessment is key to student learning. Assessments which promote critical thinking necessary for sustained learning beyond university are highly valued. However, the design of assessment tasks to achieve these types of thinking skills and dispositions to act in professional practice has received little attention. This research examines how academics design assessment to achieve these learning goals in Indigenous health education. Indigenous health education is an important area of learning for health practitioners to help address worldwide patterns of health inequities that exist for Indigenous people. We used a constructivist qualitative methodology to (i) explore learning goals and assessment strategies used in Indigenous health tertiary education and (ii) examine how they relate to higher education assessment ideals. Forty-one academics (from nine health disciplines) involved in teaching Indigenous health content participated in a semi-structured interview. Thematic analysis revealed learning goals to transform students’ perspectives and capacities to think critically and creatively about their role in Indigenous health. In contrast, assessment tasks encouraged more narrowly bounded thinking to analyse information about historical and socio-cultural factors contributing to Indigenous health. To transform students to be critical health practitioners capable of working and collaborating with Indigenous people to advance their health and well-being, the findings suggest that assessment may need to be nested across many aspects of the curriculum using a programmatic approach, and with a focus on learning to think and act for future practice. These findings accord with more recent calls for transformation of learning and assessment in health education. © 2017, Springer Science+Business Media Dordrecht

SLC35A2â CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Pathogenic de novo variants in the Xâ linked gene SLC35A2 encoding the major Golgiâ localized UDPâ galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2â congenital disorders of glycosylation (CDG; formerly CDGâ IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin Nâ glycosylation, a common biomarker for most types of CDG. Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2â CDG. The great majority of these individuals had normal transferrin glycosylation. In addition, expanding the molecular and clinical spectrum of this rare disorder, we developed a robust and reliable biochemical assay to assess SLC35A2â dependent UDPâ galactose transport activity in primary fibroblasts. Finally, we show that transport activity is directly correlated to the ratio of wildâ type to mutant alleles in fibroblasts from affected individuals.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/1/humu23731_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/2/humu23731-sup-0001-Supp_Mat__2019.2.10_.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/3/humu23731.pd

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics, and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals: the largest single cohort to date. Core clinical features were developmental delay or intellectual disability (DD/ID, 90%), seizures (83%), hypotonia (72%), and motor symptoms (64%). Prognostic and biologically significant neuroimaging features included cerebral atrophy (75%), cerebellar atrophy (60%), callosal anomalies (57%), and symmetric restricted diffusion of the central tegmental tracts (60%). Sixty-one individuals had multisystem involvement including gastrointestinal (66%), cardiac (19%), and renal (14%) anomalies. Though dysmorphic features were appreciated in 82%, no single dysmorphic feature had a prevalence >30%, indicating substantial phenotypic heterogeneity. Follow-up data were available for all individuals, 15 of whom were deceased at the time of writing. Median age at seizure onset was 6 months. Individuals with variants in synthesis stage genes of the GPI-AP exhibited a significantly shorter time to seizure onset than individuals with variants in transamidase and remodelling stage genes of the GPI-AP (P=0.046). Forty individuals had intractable epilepsy. The majority of individuals experienced delayed or absent speech (95%); motor delay with non-ambulance (64%); and severe-to-profound DD/ID (59%). Individuals with a developmental epileptic encephalopathy (51%) were at greater risk of intractable epilepsy (P=0.003), non-ambulance (P=0.035), ongoing enteral feeds (P<0.001), and cortical visual impairment (P=0.007). Serial neuroimaging showed progressive cerebral volume loss in 87.5% and progressive cerebellar atrophy in 70.8%, indicating a neurodegenerative process. Genetic analyses identified 93 unique variants (106 total), including 22 novel variants. Exploratory analyses of genotype-phenotype correlations using unsupervised hierarchical clustering identified novel genotypic predictors of clinical phenotype and long-term outcome with meaningful implications for management. In summary, we expand both the mild and severe phenotypic extremities of the IGDs; provide insights into their neurological basis; and, vitally, enable meaningful genetic counselling for affected individuals and their families

Exploring colonial trauma through creative writing: The experience of Aboriginal Australians.

This project examines colonial trauma and its ongoing impacts on the lives of colonised peoples. It aims to more fully understand the legacies of colonial suffering, particularly in settler societies where the descendants of the original settlers have established a permanent presence. My research not only exposes current and transgenerational trauma but also examines the ways in which such pain may be managed or resolved by drawing on Indigenous resilience, resistance and healing techniques, particularly as they manifest through the practices of writing. A review of colonialism, trauma and Aboriginal literature has revealed that Aboriginal writing is a potent tool for decolonising, centering indigenous voices, reclaiming identity and claiming a representational space in the literary field. There has been limited work that has examined the impacts of transgenerational trauma in relation to colonised people, particularly in the Australian context, and so this project contributes new knowledge to this field. It explores the ways in which creative writing by colonised peoples be utilised to reveal the complexity of their lives and experiences, thus working as both a vehicle for storytelling and for healing. This dissertation is in two parts. A thesis and a work of creative writing. My story Gugurdung, based loosely on biographical material from six generations of my family, creatively highlights the manifestation and impacts of transgenerational trauma over time and across generations. This work of creative writing demonstrates the power of indigenous truth-telling and emancipation of Indigenous counter-narratives, and as such it works to unite both creative and analytical elements of this thesis

Development and Validation of a Questionnaire to Measure Attitude change in Health Professionals after Completion of an Aboriginal Health and Cultural Safety Training Programme

COPYRIGHT: © The Author(s) 2017 subject to the Cambridge Core terms of use.Socially accountable health curricula, designed to decrease Aboriginal health inequities through the transformation of health professional students into culturally safe practitioners, has become a focal point for health professional programmes. Despite this inclusion in health curricula there remains the question of how to best assess students in this area in relation to the concept, of cultural safety and transformative unlearning, to facilitate attitudinal change. To address this question, this study developed a research questionnaire to measure thematic areas of transformative unlearning, cultural safety and critical thinking in Aboriginal Health for application on undergraduate and postgraduate students and faculty staff. The Likert-scale questionnaire was developed and validated through face and content validity. Test–retest methodology was utilised to determine stability and reliability of the questionnaire with 40 participants. The extent of agreement and reliability were determined through weighted kappa and intraclass correlation coefficient. Exploratory factor analysis was calculated to determine construct validity for questionnaire items. For the overall population subset the tool met good standards of reliability and validity, with 11 of the 15 items reaching moderate agreement (κ > 0.6) and an intraclass correlation coefficient of 0.72, suggesting substantial agreement. Cronbach's alpha was calculated above 0.7 for the thematic areas. The majority of items provided high factor loadings, low loading items will be reviewed to strengthen the tool, where validations of the revised tool with a larger cohort will allow future use to compare and determine effective teaching methodologies in Aboriginal health and cultural safety curricula