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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.
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.
The implications of climate change for malaria eradication this century remain poorly resolved. Many studies focus on parasite and vector ecology in isolation, neglecting the interactions between climate, malaria control and the socioeconomic environment, including disruption from extreme weather. Here we integrate 25 years of African data on climate, malaria burden and control, socioeconomic factors, and extreme weather.
Repetitive Negative Thinking (RNT) during pregnancy is a key risk factor for psychopathology in the perinatal period. However, the cognitive mechanisms underlying prenatal RNT remain poorly understood. Recent research has suggested that a tendency to volitionally seek negative rather than positive information (i.e., biased information seeking) may contribute to the formation of more negative prenatal expectations, which in turn predict elevated prenatal RNT.
The autistic and autism communities have identified improving the quality of life and well-being of autistic people as a key priority. Despite this, to date, there are no evidence-based supports for autistic children which specifically focus on improvements in these areas.
Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.
Parental support is a critical protective factor for trans and gender diverse children, yet many parents lack access to trustworthy, evidence-based information. The Transforming Families project aimed to address this gap by co-designing a digital resource to enhance parental understanding, support, and acceptance.
The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.
This article discusses the important issue of the need for a stable definition of intellectual disability in order to allow comparisons by place and over time such as in the monitoring of this population's health needs and utilization. The aim of the new Australian National Centre for Intellectual Disability Health, established in 2023, is to ensure that all Australian children and adults with intellectual disability receive high-quality healthcare that meets their needs.