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.
Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, Leonard H. Early determinants of fractures in Rett syndrome. Pediatrics. 2008;121(3):540-6. Download snapshot see article abstract
We have previously shown that girls and women with Rett syndrome are at an increased risk of fracture. We now wanted to compare the frequency of fracture episodes in females with Rett syndrome with that in the general population. We also wanted to examine factors associated with having a fracture in those with Rett syndrome.
What did we do
We used information provided by families to the Australian Rett Syndrome Study in questionnaires collected longitudinally up until 2004. We looked at the number of fracture episodes, the age at which fracture occurred, level of mobility, type of genetic mutation, epilepsy and the types of medications used to treat it.
What we found
The girls and women were between 2-29 years old in 2004 with an average age of 14.7 years. Of the 234 girls and women in this study, 84 (36%) had experienced one or more fractures between 1996 and 2004. Lower limb fractures were most common. Fractures were almost 4 times as likely to have occurred compared to the general population of similarly aged girls and women. Those with a diagnosis of epilepsy and taking more than two types of medications for epilepsy were at a higher risk of having a fracture. Similarly, those with a p.R270X or a p.R168X mutation were also at higher risk. Learning to walk was associated with a slight reduction in the likelihood of fracture.
What does it mean
It is likely that fractures in Rett syndrome are caused by different factors than in the general population where they are often associated with sporting injuries and car accidents. Fractures in Rett syndrome may occur in different circumstances and often with lower levels of trauma. Parents and healthcare professionals should be alert to suspicion of possible fracture if there has been a particular stress such as a fall.
For further reports and findings, see our publications list.