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Survival with Rett syndrome

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

The diagnosis of autism in a female: could it be Rett syndrome?

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

We interviewed 21 families with a daughter with Rett Syndrome about aspects of their daughters' lives that were satisfying or challenging to them.

Longitudinal hand function in Rett syndrome

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

Early determinants of fractures in Rett syndrome

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general p…

The Natural History of Scoliosis in Females with Rett Syndrome

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…

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

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 scolios…

Parental experiences of scoliosis management

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…

Using a large international sample to investigate epilepsy in Rett syndrome

Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.