New guidelines a model for better management of rare conditions
Families and clinicians caring for girls with the rare and debilitating neurological condition Rett syndrome can now access a comprehensive guide to the best management of one of their most significant issues, scoliosis.
The new booklet contains a set of guidelines based on the findings of a research paper that was published in the latest edition of the international journal SPINE.
Co-author Dr Jenny Downs, who led the project at Perth's Telethon Institute for Child Health Research, said the guidelines were developed in response to limited professional literature about the clinical management of Rett syndrome.
"While there are many experienced clinicians in many different countries, that knowledge had not previously been collated or shared," Dr Downs said. "Many parents had voiced concerns about the management of scoliosis and felt that the information available was poor."
Clinicians with Rett syndrome experience from different countries in the disciplines of orthopaedics, spinal surgery, paediatrics, paediatric neurology, clinical genetics, anaesthesia, nursing, physiotherapy and occupational therapy were identified through networks of researchers, publications and the Australian Rett Syndrome and InterRett databases. A Rettnet request was posted for parents to recommend clinicians with appropriate expertise. Additional collegial recommendations were used to expand the sample.
Our international panel of expert clinicians reviewed drafts of guidelines until agreement on the statements describing practice was reached. A panel of parents of a child with Rett syndrome also checked that their concerns were addressed.
"Scoliosis is a common orthopedic complication of Rett syndrome with about three quarters affected by the age of 13 years," Dr Downs said. "These guidelines take a life-span approach, commencing before the development of scoliosis and including comprehensive management from medical, therapy and surgical specialists. It is our hope that the guidelines will support clinicians with less experience, promote discussion between clinicians and parents, and stimulate research to improve management in this condition."
Dr Downs said the method used to develop the guidelines could be helpful in the management of other rare conditions.
The new booklet containing the guidelines is available at the Telethon Institute's Rett Syndrome website.
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Acknowledgments
The authors are grateful for the valuable contributions of the panel of parents and the work of the International Rett Syndrome Foundation (previously IRSA) in establishing and supporting Rettnet and for the InterRett database infrastructure;
Citation
Jenny Downs, PhD, Anke Bergman, MPH, Philippa Carter, MBBS, Alison Anderson, BSc, Greta M. Palmer, FANZCA, David Roye, MD, Harold van Bosse, MD, Ami Bebbington, BSc, Eva Lena Larsson, OTR, PhD, Brian G. Smith, MD, Gordon Baikie, MD, Sue Fyfe, PhD, and Helen Leonard, MBChB;Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence, SPINE Volume 34, Number 17, pp E607-E617
About Rett Syndrome
Rett syndrome is a relatively rare 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.