Rett syndrome

 

Rett syndrome is a relatively rare but serious neurological disorder that usually affects girls.

 

The clinical diagnosis has often been uncertain in early childhood as the symptoms may be confused with those occurring in other disorders such as autism, cerebral palsy and developmental delay.

Did you know?

• Rett syndrome affects around one in every 10,000 female births in Western Australia.
• Mutations in the MECP2 gene on the X chromosome have been identified as a cause of Rett syndrome.
• There is no known cure for Rett syndrome.

Our research
Our AussieRett database includes information about all Australian girls born with Rett syndrome since 1976.  We collect information about functional abilities, behaviour, hand function, medical conditions and the use of health and education services.  Since Rett syndrome is a movement disorder, an extremely important and innovative source of information is video footage provided by the families of girls with Rett syndrome and during 2007, families provided a second round of video material to the AussieRett study.

 

We have also been looking at scoliosis, a common orthopaedic complication that affects around 75 per cent of girls with Rett syndrome by 13 years of age.  We have been collecting information from both clinicians and parents to develop a set of clinical guidelines for the management of scoliosis in Rett syndrome.  

 

InterRett, an international database which collects data from families and clinicians around the world, grew during 2007 and now contains 1,271 cases of Rett syndrome from 30 countries.  This information allows us to investigate sub-groups of individuals who share the same mutation and compare them to groups with different mutation types.