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Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.

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

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

Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.

We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.

This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...