Clinical Associate Professor Helen Leonard
The Australian Rett Syndrome Study is based at the Telethon Institute for Child Health Research (ICHR) which is located in Subiaco, Western Australia. The ICHR is part of the University of Western Australia's Faculty of Medicine, Dentistry and Health Sciences. This study was established in 1993 and operates in collaboration with Princess Margaret Hospital for Children, Perth and the Children’s Hospital at Westmead, Sydney. A unique feature of the study is that it involves all families in Australia who have a daughter with Rett syndrome born in or after 1976. This is in contrast to many studies overseas where only selected groups of children are involved. Being ‘population-based’ allows us to be confident that our research findings will be applicable to all girls with Rett syndrome. In 1999 the gene that is responsible for Rett syndrome was identified. Rett syndrome can be attributed to a mutation in the MECP2 gene (pronounced "meck-p-two"). Since then this study has been working on molecular genetic studies in conjunction with Royal Perth Hospital and the Children's Hospital at Westmead. The Australian Rett Syndrome study aims to monitor patterns of Rett syndrome occurrence. The study also aims to develop and maintain an ongoing data collection which will provide information about the impact of Rett syndrome on functioning, daily living activities and health; the relationship between genetic and clinical characteristics; the adequacy, availability and quality of treatments and services provided; the use of medical and therapeutic interventions; the impact of Rett syndrome on families in terms of family functioning and support, and financial costs and resources. The study provides a population data source for genetic research which is a model for use elsewhere in the world. It promotes information sharing with medical, educational and health professionals to increase understanding about Rett syndrome. The study make available information which can be provided to families of newly diagnosed children to give them some expectations about their child’s future.