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Rett syndrome and Related Disorders

In this The Kids Research Institute Australia subsite, our Rett syndrome research team manages a national and international database of Rett syndrome.

Atypical Presentations

We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.

Large deletions of the MECP2 gene

We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.

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.