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The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome populationThis study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...
Research
Bone mineral content and density in Rett syndrome and their contributing factorsThis study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...
Research
The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
Research
Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.
Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.
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.
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 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.