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The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
Our findings provide additional insight into the early clinical profile of Rett syndrome.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
We also wanted to find out whether any particular behaviours were associated with any specific mutation types.
Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd
This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in 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.
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of symptoms.