Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abn…
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of sympt…
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.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walki…
Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.
Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scolios…
We investigated what parents thought about the ways to manage scoliosis and what they thought they needed to help them better manage their daughter's…