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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.

Survival with Rett syndrome

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

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.

Linking MECP2 and pain sensitivity

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.

Resources

These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.

Stereotypical hand movements

We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.

About

Learn more about the Wesfarmers Centre of Vaccines and Infectious Diseases

Planning opportunities for uptime

Embrace the potential of children with Rett Syndrome by exploring how to plan opportunities for uptime, maximizing their engagement and participation in meaningful activities.

Our People

Meet our survey team and our survey reference group