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Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
This paper outlines the theory of change which underpins the Western Australian (WA) hub of the Healthy Environments and Lives (HEAL) network. HEAL is an Australian national research initiative that aims to address the health impacts of climate and environmental change. The WA hub's theory of change is focused on improving the health and well-being of the planet and people, including children, through centring Indigenous sovereignty, voices and ways of knowing and being in research, policy development and service provision.
Childhood is a critical period for the development of movement behaviours such as physical activity, sleep and sedentary behaviour. The PLAYCE Cohort was established to investigate how movement behaviours change over early to middle childhood, across key behaviour settings and relationships with health and development. An overview of the PLAYCE cohort, summary of key findings to date, and future research opportunities are presented.
Virtual reality is used as a distraction tool during medical procedures that can cause anxiety and pain. We assessed the usefulness, engagement, value and feasibility of virtual reality to help children cope with routine clinical procedures.
Promoting wellbeing for youth is a global health priority and young people with chronic conditions demonstrate disproportionately low wellbeing compared to their peers. However, wellbeing is variably defined, and little is understood as to what wellbeing means for this population. The aim of this study was to develop a conceptualisation of wellbeing that is rooted in the perspectives of young people with chronic conditions.
Measuring exercise intensity for safety and to inform prescription in acute burn survivors, is challenging. This study aimed to assess the validity of adult patient end-of-workout rating of session perceived exertion (sRPE); and calculated training load (TL) (sRPE × session duration) as measures of exercise intensity. Secondly, the study aimed to compare clinician and patient perception of exercise effort during physiotherapist-led sessions.
Drug-resistant tuberculosis (DR-TB) remains a major public health challenge in China, with varying treatment outcomes across different regions. Understanding the spatial distribution of DR-TB treatment outcomes is crucial for targeted interventions to improve treatment success in high-burden areas such as Hunan Province. This study aimed to map the spatial distribution of DR-TB treatment outcomes at a local level and identify sociodemographic and environmental factors associated with poor treatment outcomes in Hunan Province, China.
Child poverty remains a major global concern and a child's experience of deprivation is heavily shaped by where they live and the stability of their local neighbourhood. This study examines frequencies and patterns of residential mobility in children and young people at a population level using novel geospatial techniques to assess how often their physical environment changes and to identify geographical variations in social mobility.
Community Elders in Boorloo (Perth) identified early childhood education (ECE) as a priority area for Aboriginal children’s research. This is due to a lower number of Aboriginal children attending ECE programs compared to non-Aboriginal children. Attending ECE programs sets children up for school success and is an indicator for positive life outcomes in later life. Therefore, we sought to co-design and implement a program that encourages Aboriginal children and families to attend ECE programs, known as Moort Dandjoo Kaadadjiny.
In Western Australia (WA), children aged 24 months living regionally or remotely (non-urban) have suboptimal vaccine uptake. As there has not yet been a systematic approach to understanding the facilitators and barriers to childhood vaccination in regional and remote WA, this study aimed to understand the views of key immunisation stakeholders regarding barriers and solutions.