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Author Notes:

Jenny.Downs@telethonkids.org.au

Conceived and designed the experiments: AJ JD HL AS HW SF.

Performed the experiments: AJ JD HL.

Analyzed the data: AJ JD HL AS.

Contributed reagents/materials/analysis tools: AJ JD HL.

Wrote the paper: AJ JD HL AS HW SF LMW CM KM DT JRS TB BB AB GC CE MF SG PH MJ JL GL ML AP MP SS BS ST BW IWE.

The authors wish to thank our panel of parents from the Australian Consumer Reference Group for their useful insights and the International Rett Syndrome Foundation, Rettsyndrome.org for organising the listserv RettNet. We would also like to thank the UK for funding this stud, the NIH and NHMRC for funding the Australian Rett Syndrome research program, the NIH for funding the Natural History Study in the US and the International Rett Syndrome Foundation for funding InterRett research program. The authors also acknowledge the valuable contributions of the expert panel who participated in the Delphi technique.

See the full article for the list of expert panel members.

Competing interests: The authors have declared that no competing interests exist.

Data Availability: Our data has now been published and is available to view and download http://doi.org/10.4225/06/5697464CB9EE4.

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Research Funding:

Funding for this project was provided by the Rett Syndrome Association UK.

The Australian Rett Syndrome program has previously been funded by the National Institutes of Health (5R01HD043100-05) and also the National Medical and Health Research Council (NHMRC) project grant #303189 and #1004384 for certain clinical aspects.

The International Rett Syndrome Research Program is funded by the Rett syndrome.org.

Keywords:

  • Science & Technology
  • Multidisciplinary Sciences
  • Science & Technology - Other Topics
  • X-RAY ABSORPTIOMETRY
  • VITAMIN-D DEFICIENCY
  • MINERAL DENSITY
  • QUANTITATIVE ULTRASOUND
  • POSITION STATEMENT
  • OFFICIAL POSITIONS
  • ENDOCRINE-SOCIETY
  • PUBERTAL CHANGES
  • CEREBRAL-PALSY
  • MECP2 MUTATION
  • Bone density
  • Bone fracture
  • Bone imaging
  • Musculoskeletal system
  • Osteoporosis
  • Bone
  • Vitamin D
  • Pediatrics

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

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Journal Title:

PLoS ONE

Volume:

Volume 11, Number 2

Publisher:

, Pages e0146824-e0146824

Type of Work:

Article | Final Publisher PDF

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.

Copyright information:

© 2016 Jefferson et al

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).

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