Rett Syndrome Research Reveals High Fracture Risk

The head of the Australian Rett Syndrome Study based at the Institute, Dr Helen Leonard, said the results had important implications for the care of girls with the syndrome.

"Many of the girls had fractures of the femur which are particularly disabling given the limited mobility of many of these children," Dr Leonard said.

"This information will be important for doctors and for families in both identifying fractures and endeavouring to find ways to prevent them where possible."

Dr Leonard said the study had found that girls with epilepsy and more severe forms of Rett syndrome were more likely to suffer fractures. "Our next step will be to try to identify the mechanism that is making the girls more susceptible to fractures which will include looking at the effect of the specific gene that's responsible for the syndrome and also the impact of the drug therapies used for epilepsy," Dr Leonard said.

"The high incidence of fracture impacts on the quality of life, care needs and outcomes for this group and their families. We have shown previously that having a child with a fracture impacts in a negative way on the mother's mental health status."

The findings have just been published in the latest edition of the journal Paediatrics.

The Australian Rett Syndrome program receives funding from the National Institutes of Health (USA) and the National Health and Medical Research Council (NHMRC).

About Rett syndrome

Rett syndrome is a relatively rare but serious neurological disorder that usually affects girls. The clinical diagnosis has often been uncertain in early childhood as the symptoms may be confused with those occurring in other disorders such as autism, cerebral palsy and developmental delay. Rett syndrome affects around one in every 8,500 female births. Mutations in the MECP2 gene on the X chromosome have been identified as a cause of Rett syndrome. There is no known cure.