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This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.
Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.
Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.
We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.
We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.
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.
Our Searchable online database allows you to create graphs like the one below.

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