These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.
Freilinger, M, Bebbington, A, Lanator, I, Klerk, ND, Dunkler, D, Seidl, R, Leonard, H & Ronen, GM 2010. Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database. Developmental Medicine and Child Neurology 52(10):962-5. Download snapshot, see article abstract.
Dr Andreas Rett first described Rett syndrome in 1966 in a group of 22 girls. Since then, there have been many advances in medicine and in our understanding of Rett syndrome. Therefore, we wanted to investigate if there have been any changes over time in the life expectancy of girls and women with Rett syndrome.
What we did
Working with researchers in Austria and Canada, we collected information on the life expectancy of the original group described by Dr. Rett in 1966. We then compared this to the information provided by families participating in the Australian Rett Syndrome Database and examined how life expectancy has changed over time.
What we found
Of the original 22 girls/women diagnosed by Dr Andreas Rett, three are still alive and were between 48 to 49 years of age. Those who have died lived to an average age of 15 ½ years. In contrast, in our Australian group nearly 80% of young women were alive at 20 years of age.
Of the original 22 girls, two of the three that are still alive are currently living at home with their parents. One of the girls had a small deletion in her MECP2 gene and had presented with typical symptoms of Rett syndrome when she was first diagnosed. She eats pureed meals and uses a brace for her scoliosis.
The second girl did not have a mutation in the MECP2 gene but had many of the typical symptoms of Rett syndrome when she was first diagnosed. She is able to speak one or two-word phrases and can walk independently, despite having severe scoliosis. Her epilepsy is well-controlled with medication and she has no respiratory problems.
What does it mean
These findings are encouraging because it suggests that many aspects of care have improved over the years. This study also highlights the enormous value of families participating in an ongoing data collection. Rett syndrome is a relatively rare condition and it can be difficult to understand overall trends. Therefore, the information that Australian families provide on a regular basis allows us to gain enormous insight into this condition - information that is not available from anywhere else in the world.