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Research

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.

Research

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

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

Research

A comprehensive picture of the regulatory regions of the three genes involved 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.

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.

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

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

Novel findings in relation to genotype

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The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.