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Validating the rett syndrome gross motor scale

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

Early development and regression in Rett syndrome

Our findings provide additional insight into the early clinical profile of Rett syndrome.

The CDKL5 Disorder

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

Behavior and mutation type

We also wanted to find out whether any particular behaviours were associated with any specific mutation types.

Altered attainment of developmental milestones

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

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.

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.

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.

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.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of symptoms.