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Findings from The Kids Research Institute Australia’s ‘Ear Explorers’ real-life research project undertaken as part of the 2019 Telethon weekend, found short videos were more helpful than photos when making a diagnosis.

News & Events

Australian researchers who have conducted the first study looking at the direct health impacts of predicted carbon dioxide levels say the results are worrying and highlight the urgent need for more research into the issue.

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.

Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.

Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.

We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.

The ARSS has a Consumer Reference Group to ensure family representation and input into issues relating to the design, management and output of the study.