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The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency.
Amniotic epithelial cells are fetal-derived stem cells, capable of differentiating into all three germ layers, including mature epithelial cell populations. Here, we hypothesised that the amniotic epithelium might serve as a surrogate tissue source for investigating transcriptional profiles in the respiratory epithelium of newborns.
Remote-living Aboriginal children in Australia contend with higher rates of skin infections than non-Indigenous children. This work was embedded within a stepped-wedge, cluster randomised controlled trial aiming to halve the rate of skin infections in remote Kimberley communities. It outlines and reflects upon the co-development of a health promotion resource in partnership with the East Kimberley community of Warmun, whilst understanding community perceptions of its impact.
Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.
Immune checkpoint therapy (ICT) causes durable tumour responses in a subgroup of patients, but it is not well known how T cell receptor beta (TCRβ) repertoire dynamics contribute to the therapeutic response.
Siblings of children with intellectual disability have unique family experiences, varying by type of disability.
The aim of this project was to identify the top 10 priorities for childhood chronic conditions and disability (CCD) research from the perspectives of children and young people with lived experience, their parents and caregivers and the professionals who work with them.
Policy interventions to increase physical activity in early childhood education and care (ECEC) services are effective in increasing physical activity among young children. However, a large proportion of ECEC services do not have nor implement a physical activity policy.
To generate contemporary age-specific mortality rates for Indigenous and non-Indigenous Australians aged <65 years who died from rheumatic heart disease between 2013 and 2017, and to ascertain the underlying causes of death of a prevalent RHD cohort aged <65 years who died during the same period.
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.