International Rett syndrome study: InterRett

Helen Leonard, Jenny Downs, Kingsley Wong, Amy Epstein, Nada Murphy, Barbara Anderson, Nan Hu, Jessica Mackay, Sharolin Boban

We established  the International Rett Syndrome Database, InterRett in 2003 and have used it extensively to compare the clinical features of affected girls and women according to their type of MECP2 mutation. In recent years we have been undertaking follow-up studies which have enabled us to examine more closely the breathing abnormalities and sleep disturbances which occur in this disorder.  Using InterRett as a data source we also conducted and published a study  that has assessed whether an intensive therapy program helps the health and functional abilities of young Chinese girls with Rett syndrome.

Funder: rettsyndrome.org

External collaborators:

• Andrew Wilson, Princess Margaret Hospital, Perth
• Dr Chen Li, Shenzhen Children’s Hospital, China
• Mr Tam Cruise, Rett Syndrome Comprehensive Research Institute, Shenzhen, China
• Professor Sean Huang, Shenzhen Institute of Advanced Technology, Chinese Academy of Science, China