Search

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

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

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

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

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

We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.

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

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

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.