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.
Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, Leonard H. Predictors of scoliosis in Rett syndrome. Journal of Child Neurology. 2006;21(9):809-13. Download snapshot see journal abstract.
Scoliosis refers to a curvature of the spine and it is common in girls and women with Rett syndrome. In this study, we examined factors that might influence the development of scoliosis.
What we did
Using information provided by 231 families in the Australian Rett Syndrome Study, we looked at the relationships between early developmental, genetic characteristics and the development of scoliosis.
What we found
We found that the likelihood of scoliosis increased with age; one quarter of girls had scoliosis by 6 years of age compared to three quarters by 13 years. Girls who had never learned to walk or had developmental difficulties in the first 6 months were more likely to develop scoliosis at an earlier age.
Girls and women with a R294X mutation developed scoliosis at a slightly later age compared to those with other mutations.
What it means
Although not all girls and women, many with Rett syndrome will develop scoliosis. By understanding what factors could influence the onset of scoliosis, clinicians and families can be more alert to its development and act accordingly.