Search

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

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.

Research

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Research

Eye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities