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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.

Research

A severe neurodevelopmental disorder mostly affecting girls.

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

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

Research

For most individuals, there is initial developmental progress followed by regression at around 6–30 months. The classic signs of RTT then become apparent.

Research

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Research

This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.

Research

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08

Research

Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...

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.