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…
Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features o…
We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of muta…
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.
Novel findings in relation to genotype
We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.
We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with…
We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.
We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.