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Research

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation

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.

Research

This study aimed to describe overall survival and adult health in those with Rett syndrome.

Research

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

Research

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.