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Predictors of scoliosis in Rett syndrome

Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.

Predictors of scoliosis

Article title

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.

Background

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.

Related information

You may be interested to know that we have also published a guide for the management of scoliosis for families and clinicians. This is available in English and Spanish.