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Our Rett syndrome research team manages not only a national database of Rett syndrome, but also an international database, tracking the health, daily living and service provision information of girls and women with Rett syndrome.
A severe neurodevelopmental disorder mostly affecting girls.
Rett syndrome is one of the 8,000 rare genetic diseases that collectively affect up to 10% of the population.
We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.
We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.
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.
Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.