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Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence

Downs, Jenny PhD*‡‡; Bergman, Anke MPH*; Carter, Philippa MBBS*; Anderson, Alison BSc*; Palmer, Greta M. FANZCA; Roye, David MD; van Bosse, Harold MD§; Bebbington, Ami BSc*; Larsson, Eva Lena OTR, PhD; Smith, Brian G. MD; Baikie, Gordon MD**; Fyfe, Sue PhD††; Leonard, Helen MBChB*

doi: 10.1097/BRS.0b013e3181a95ca4

Study Design. Modified Delphi technique.

Objective. To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.

Summary of Background Data. Rett syndrome is a rare disorder and clinical expertise is thus with small case series. Scoliosis is a frequent association and the evidence base dealing with scoliosis management in this syndrome is limited. Parents of affected girls and women have expressed needs for more information about scoliosis and Rett syndrome.

Methods. An initial draft of scoliosis guidelines was created based on literature review and open-ended questions where the literature was lacking. Perspectives of four parents of Rett syndrome patients informed this initial draft. Access to an online and a Microsoft Word formatted version of the draft were then sent to an international, multidisciplinary panel of clinicians via e-mail with input sought using a 2-stage modified Delphi process to reach consensus agreement. Items included clinical monitoring and intervention before the diagnosis of scoliosis; monitoring after the diagnosis of scoliosis; imaging; therapy and conservative management; bracing; and preoperative, surgical, and postoperative considerations.

Results. The first draft contained 71 statements, 65 questions. The second draft comprised 88 items with agreement to strong agreement achieved on 85, to form the final guideline document. A comprehensive, life-span approach to the management of scoliosis in Rett syndrome is recommended that takes into account factors such as physical activity, posture, nutritional and bone health needs. Surgery should be considered when the Cobb angle is approximately 40° to 50° and must be supported by specialist management of anesthesia, pain control, seizures, and early mobilization.

Conclusion. Evidence- and consensus-based guidelines were successfully created and have the potential to improve care of a complex comorbidity in a rare condition and stimulate research to improve the current limited evidence base.

An international and multidisciplinary panel of clinicians participated in a modified Delphi technique to develop a set of clinical guidelines for the management of scoliosis in Rett syndrome. Items related to monitoring and conservative interventions before and after the diagnosis of scoliosis; and preoperative, surgical, and postoperative considerations.

From the *Centre for Child Health Research, Telethon Institute for Child Health Research, Perth, Australia; †Department of Anaesthesia and Pain Management, Royal Children’s Hospital, Melbourne, Australia; ‡Division of Pediatric Orthopaedic Surgery, Morgan Stanley Children’s Hospital of New York Presbyterian, Columbia University Medical Center, New York, NY; §Department of Orthopaedics, Shriner’s Hospital for Children, Philadelphia, PA; ¶Orthopaedic Centre, University Hospital, Linkoping, Sweden; ∥Department of Orthopedics, Yale University School of Medicine, Yale New Haven Children’s Hospital, New Haven, CT; **Department of Developmental Medicine, Royal Children’s Hospital, Melbourne, Australia; ††School of Public Health and Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Australia; and ‡‡School of Physiotherapy and Curtain Health Innovation Research Institute, Curtain University of Technology, Perth, Australia.

Acknowledgment date: December 11, 2008. Acceptance date: February 10, 2009.

The manuscript submitted does not contain information about medical device(s)/drug(s).

No funds were received in support of this work. No benefits in any form have been or will be received from a commercial party related directly or indirectly to the subject of this manuscript.

The Australian Rett Syndrome program has been funded by the National Institutes of Health (5R01HD043100-05) and also the National Medical and Health Research Council (NHMRC) project grant 303189 for certain clinical aspects. The international Rett syndrome research program is funded by the International Rett Syndrome Foundation. HL is funded by a NHMRC program grant (353514). There are no potential conflicts of interest or commercial support of the authors.

This study was approved by the Ethics Committee of Curtin University of Technology.

Address correspondence and reprint requests to Helen Leonard, MBChB, Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia 6872; E-mail:

© 2009 Lippincott Williams & Wilkins, Inc.