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The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.
MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
The burden of mental health problems among Aboriginal and Torres Strait Islander children is a major public health problem in Australia.
Monkeypox virus (MPXV) has been linked to vertical transmission, but systematic data are scarce. We aimed to describe the sociodemographic, clinical, and virological characteristics and assess the frequency and determinants of adverse outcomes in pregnant women with MPXV clade I infection.
We begin to bridge this knowledge gap by assessing evidence on social gradients in indigenous health in Australia.
We sought to provide insights by examining socio-economic disparities in physical health outcomes among Aboriginal and Torres Strait Islander children in WA.
Difference in stillbirth and neonatal death rates in Western Australia (1998-2010) by maternal ethnicity
A population-based, stepped wedge, cluster randomized controlled trial of an enhanced model of early infant primary care
This study highlights a range of unique profiles that can be used for improving the early development of young Aboriginal children
Apgar score, birth weight, sex, socioeconomic status, and maternal ethnicity, in addition to gestational age, have pronounced impacts on disability-free survival.
Mothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption
This study aimed to examine the pattern of stillbirth and neonatal mortality rate disparities over time in Western Australia
We describe the application of a participatory action research methodology that is grounded in Aboriginal worldviews