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 R. Shapiro; Torkel Brismar; Bruria Ben-Zeev; Anne-Marie Bisgaard; Giangennaro Coppola; Carolyn Ellaway; Michael Freilinger; Suzanne Geerts; Peter Humphreys; Mary Jones; Jane Lane; Gunilla Larsson; Meir Lotan; Alan Percy; Mercedes Pineda; Steven Skinner; Birgit Syhler; Sue Thompson; Batia Weiss; Ingegerd Witt Engerström; Jenny Downs

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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

Amanda Jefferson, Curtin University

Helen Leonard, The University of Western Australia

Aris Siafarikas, Princess Margaret Children’s Hospital

Helen Woodhead, Sydney Children’s Hospital

Sue Fyfe, Curtin University

Leanne M. Ward, University of Ottawa

Craig Munns, The Children’s Hospital at Westmead

Kathleen Motil, Baylor College of Medicine

Daniel Tarquinio, Emory University

Jay R. Shapiro, Kennedy Krieger Institute

Torkel Brismar, Karolinska Institutet

Bruria Ben-Zeev, Chaim Sheba Medical Center

Anne-Marie Bisgaard, Center for Rett Syndrome, Denmark

Giangennaro Coppola, University of Salerno

Carolyn Ellaway, The Children’s Hospital at Westmead

Michael Freilinger, Medical University of Vienna

Suzanne Geerts, University of Alabama at Birmingham

Peter Humphreys, Children’s Hospital of Eastern Ontario

Mary Jones, UCSF Benioff Children’s Hospital

Jane Lane, University of Alabama at Birmingham

Gunilla Larsson, Swedish National Rett Centre

Meir Lotan, Ariel University

Alan Percy, University of Alabama at Birmingham

Mercedes Pineda, Fundació Hospital Sant Joan de Déu

Steven Skinner, Greenwood Genetic Center

Birgit Syhler, Center for Rett Syndrome, Denmark

Sue Thompson, The Children’s Hospital at Westmead

Batia Weiss, Edmond & Lily Safra Children’s Hospital

Ingegerd Witt Engerström, Swedish National Rett Center

Jenny Downs, The University of Western Australia

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Journal Title:

PLoS ONE

Volume:

Volume 11, Number 2

Publisher:

Public Library of Science | 2016-02-05, Pages e0146824-e0146824

Type of Work:

Article | Final Publisher PDF

Permanent URL:

https://pid.emory.edu/ark:/25593/rjn4c

Publisher DOI:

http://doi.org/10.1371/journal.pone.0146824

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:

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

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