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

This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measured.

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

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.

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We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.

Research

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Research

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...

Research

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

Research

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).