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Research

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

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

Research

InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...

Research

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Research

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Research

Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Child Disability

Improving the lives of children with a disability and their families sits at the core of our team.

The CDKL5 Disorder

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

Investigating genotype - phenotype relationships in Rett syndrome using an international database

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.

Refining the phenotype of common mutations

Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.

Updating the profile of C-terminal MECP2 deletions

Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.