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Sleep problems in Rett syndrome

Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.

Bone mineral content and density in Rett syndrome

We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.

Predictors of scoliosis in Rett syndrome

Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.

About Rett syndrome

Rett syndrome is one of the 8,000 rare genetic diseases that collectively affect up to 10% of the population.

Why get active?

Anyone who engages in physical activity, regardless of how much they do, can achieve mental, physical and social health benefits, resulting in benefits to their quality of life.

News & Events

3rd European Rett Syndrome Conference, October 17-19, Maastricht, The Netherlands

Following last year's World Rett Syndrome Congress held in New Orleans, the 3rd European Rett Syndrome Conference was held in the Netherlands over 3 days.

News & Events

MECP2 duplication syndrome in the news

Our own Dr Helen Leonard was recently featured on Today Tonight. MECP2 duplication syndrome, which more frequently affects boys, is one of the Rett syndrome...

Research

The Investigation of Health-Related Topics on TikTok: A Descriptive Study Protocol

The social media application TikTok allows users to view and upload short-form videos. Recent evidence suggests it has significant potential for both industry and health promoters to influence public health behaviours. This protocol describes a standardised, replicable process for investigations that can be tailored to various areas of research interest, allowing comparison of content and features across public health topics.

Research

Subcutaneous infusion of high-dose benzathine penicillin G is safe, tolerable, and suitable for less-frequent dosing for rheumatic heart disease secondary prophylaxis: a phase 1 open-label population pharmacokinetic study

Since 1955, the recommended strategy for rheumatic heart disease secondary prophylaxis has been benzathine penicillin G injections administered intramuscularly every 4 weeks. Due to dosing frequency, pain, and programmatic challenges, adherence is suboptimal. It has previously been demonstrated that BPG delivered subcutaneously at a standard dose is safe and tolerable and has favorable pharmacokinetics, setting the scene for improved regimens with less frequent administration.

Research

Interactions between the lipidome and genetic and environmental factors in autism

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank.