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.
Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence
Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, et al. (2016) Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. PLoS ONE 11(2): e0146824. doi:10.1371/journal.pone.0146824. Download snapshot, see article abstract.
Low bone density or osteopenia is a frequent problem in Rett syndrome and as a result girls and women with Rett syndrome are at increased risk of bone fracture. In order to help doctors and families reduce the risk of fractures in their patients and children, we developed clinical guidelines for managing bone health in Rett syndrome.
What we did
We reviewed relevant research papers and then consulted with a panel of clinicians and researchers with expertise in Rett syndrome or appropriate specialties. The guidelines were developed to provide information on how bone health should be assessed, how osteopenia or osteoporosis can be prevented and how it can be treated.
What we found
Factors such as fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers need to be considered when evaluating the risk of low bone density and fracture. Interpretation of densitometry assessment should take into account the size of the person's bones. How often densitometry is needed should be based on an individual's level of risk. To improve bone health, it is recommended that the girls increase physical activity and take calcium and vitamin D supplements if these levels are low. A history of bone fractures in combination with low bone density is necessary for a diagnosis of osteoporosis. If present, the use of a type of medication called "bisphosphonate" may be recommended to prevent further loss of bone mass.
What does it mean
These guidelines are relevant to both families and clinicians who care for individuals with Rett syndrome. They have the potential to improve bone health in girls and women with Rett syndrome, reduce the frequency of fractures, and encourage future research aiming to reduce the impacts of poor bone health in Rett syndrome.
For further reports and findings, see our publications list.