Search
The Siblings Project Gallery
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.

Guide our sibling research!
News & Events
Rett syndrome research reveals high fracture riskGirls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.
News & Events
New study reveals Rett syndrome can strike malesA new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder.

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
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
Updating the profile of C-terminal MECP2 deletions in Rett syndromeThis study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
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...
Research
Gross Motor Profile in Rett Syndrome as Determined by Video AnalysisThis 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
Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional studyThere is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.
Research
The diagnosis of autism in a female: could it be Rett syndrome?The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
Research
Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorderOur findings suggest that some opportunities do exist for clinicians to help optimise parental well-being
Research
Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
Research
Management of oral and dental problems in Rett syndrome: a narrative review of the literatureReview of the available dental literature on assessment and management of the oral manifestations of Rett syndrome