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Research

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...

Research

Early development and regression in Rett syndrome

Our findings provide additional insight into the early clinical profile of Rett syndrome.

Research

Functioning and post-school transition outcomes for young people with Down syndrome

Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...

Research

Reversible Control by Vitamin D of Granulocytes and Bacteria in the Lungs of Mice: An Ovalbumin-Induced Model of Allergic Airway Disease

Vitamin D may be essential for restricting the development and severity of allergic diseases and asthma, but a direct causal link between vitamin D...

Research

Exposure to UV Wavelengths in Sunlight Suppresses Immunity. To What Extent is UV-induced Vitamin D3 the Mediator Responsible?

In experimental models, both vitamin D3-dependent and vitamin D3-independent pathways have been implicated in the mechanisms of UVR-induced systemic...

Research

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.

Research

The clinical utility of lung clearance index in early cystic fibrosis lung disease is not impacted by the number of multiple-breath washout trials

This study aimed to determine if relationships between LCI and clinical outcomes of CF lung disease differ when only two acceptable MBW trials are assessed.

Research

Parental Experiences of Having a Child Diagnosed With Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

Research

Effectiveness of nirsevimab in preventing RSV-hospitalisation among young children in Western Australia 2024

Respiratory Syncytial Virus (RSV) causes a significant burden of illness for children under 2 years of age. Nirsevimab, a long-acting monoclonal antibody, was registered for RSV prevention in Australia in 2023. In April 2024, Western Australia (WA) launched the country's first state-wide nirsevimab program for all infants and high-risk children entering their second RSV season.