Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

Amanda Jefferson, Helen Leonard, Aris Siafarikas, Helen Woodhead, Sue Fyfe, Leanne M. Ward, Craig Munns, Kathleen Motil, Daniel Tarquinio, Jay Shapiro, Torkel Brismar, Bruria Ben-Zeev, Anne Marie Bisgaard, Giangennaro Coppola, Carolyn Ellaway, Michael Freilinger, Suzanne Geerts, Peter Humphreys, Mary Jones, Jane LaneGunilla Larsson, Meir Lotan, Alan Percy, Mercedes Pineda, Steven Skinner, Birgit Syhler, Sue Thompson, Batia Weiss, Ingegerd Witt Engerström, Jenny Downs

Research output: Contribution to journalArticle

Abstract

Objectives We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. Methods An initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using a 2-stage Delphi process to reach consensus agreement. Items describe the clinical assessment of bone health, bone mineral density assessment and technique, and pharmacological and non-pharmacological interventions. Results Agreement was reached on 39 statements which were formulated from 41 statements and 11 questions. When assessing bone health in Rett syndrome a comprehensive assessment of fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers is recommended. A baseline densitometry assessment should be performed with accommodations made for size, with the frequency of surveillance determined according to individual risk. Lateral spine x-rays are also suggested. Increasing physical activity and initiating calcium and Vitamin D supplementation when low are the first approaches to optimizing bone health in Rett syndrome. If individuals with Rett syndrome meet the ISCD criterion for osteoporosis in children, the use of bisphosphonates is recommended. Conclusion A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis. These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.

Original languageEnglish (US)
Article numbere0146824
JournalPLoS One
Volume11
Issue number2
DOIs
Publication statusPublished - Feb 1 2016

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ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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Jefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., ... Downs, J. (2016). Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence. PLoS One, 11(2), [e0146824]. https://doi.org/10.1371/journal.pone.0146824