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

A. Jefferson, Helen Leonard, Aris Siafarikas, H. Woodhead, S. Fyfe, L.M. Ward, C. Munns, K. Motil, D. Tarquinio, J.R. Shapiro, T. Brismar, B. Ben-Zeev, A.M. Bisgaard, G. Coppola, C. Ellaway, M. Freilinger, S. Geerts, P. Humphreys, M. Jones, J. Lane & 10 others G. Larsson, M. Lotan, A. Percy, M. Pineda, S. Skinner, B. Syhler, S. Thompson, B. Weiss, I.W. Engerström, Jennepher Downs

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Abstract

© 2016 Jefferson et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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
Original languageEnglish
Article numbere0146824
Pages (from-to)1-18
Number of pages19
JournalPLoS One
Volume11
Issue number2
DOIs
Publication statusPublished - 5 Feb 2016

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Rett Syndrome
Bone
bones
Health
Guidelines
Bone and Bones
densitometry
Densitometry
osteoporosis
Osteoporosis
bone density
Diphosphonates
spine (bones)
Licensure
vitamin D
Vitamin D
physical activity
Bone Density
drug therapy
Reproduction

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Jefferson, A. ; Leonard, Helen ; Siafarikas, Aris ; Woodhead, H. ; Fyfe, S. ; Ward, L.M. ; Munns, C. ; Motil, K. ; Tarquinio, D. ; Shapiro, J.R. ; Brismar, T. ; Ben-Zeev, B. ; Bisgaard, A.M. ; Coppola, G. ; Ellaway, C. ; Freilinger, M. ; Geerts, S. ; Humphreys, P. ; Jones, M. ; Lane, J. ; Larsson, G. ; Lotan, M. ; Percy, A. ; Pineda, M. ; Skinner, S. ; Syhler, B. ; Thompson, S. ; Weiss, B. ; Engerström, I.W. ; Downs, Jennepher. / Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence. In: PLoS One. 2016 ; Vol. 11, No. 2. pp. 1-18.
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abstract = "{\circledC} 2016 Jefferson et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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",
author = "A. Jefferson and Helen Leonard and Aris Siafarikas and H. Woodhead and S. Fyfe and L.M. Ward and C. Munns and K. Motil and D. Tarquinio and J.R. Shapiro and T. Brismar and B. Ben-Zeev and A.M. Bisgaard and G. Coppola and C. Ellaway and M. Freilinger and S. Geerts and P. Humphreys and M. Jones and J. Lane and G. Larsson and M. Lotan and A. Percy and M. Pineda and S. Skinner and B. Syhler and S. Thompson and B. Weiss and I.W. Engerstr{\"o}m and Jennepher Downs",
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Jefferson, A, Leonard, H, Siafarikas, A, Woodhead, H, Fyfe, S, Ward, LM, Munns, C, Motil, K, Tarquinio, D, Shapiro, JR, Brismar, T, Ben-Zeev, B, Bisgaard, AM, Coppola, G, Ellaway, C, Freilinger, M, Geerts, S, Humphreys, P, Jones, M, Lane, J, Larsson, G, Lotan, M, Percy, A, Pineda, M, Skinner, S, Syhler, B, Thompson, S, Weiss, B, Engerström, IW & Downs, J 2016, 'Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence' PLoS One, vol. 11, no. 2, e0146824, pp. 1-18. https://doi.org/10.1371/journal.pone.0146824

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence. / Jefferson, A.; Leonard, Helen; Siafarikas, Aris; Woodhead, H.; Fyfe, S.; Ward, L.M.; Munns, C.; Motil, K.; Tarquinio, D.; Shapiro, J.R.; Brismar, T.; Ben-Zeev, B.; Bisgaard, A.M.; Coppola, G.; Ellaway, C.; Freilinger, M.; Geerts, S.; Humphreys, P.; Jones, M.; Lane, J.; Larsson, G.; Lotan, M.; Percy, A.; Pineda, M.; Skinner, S.; Syhler, B.; Thompson, S.; Weiss, B.; Engerström, I.W.; Downs, Jennepher.

In: PLoS One, Vol. 11, No. 2, e0146824, 05.02.2016, p. 1-18.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

AU - Jefferson, A.

AU - Leonard, Helen

AU - Siafarikas, Aris

AU - Woodhead, H.

AU - Fyfe, S.

AU - Ward, L.M.

AU - Munns, C.

AU - Motil, K.

AU - Tarquinio, D.

AU - Shapiro, J.R.

AU - Brismar, T.

AU - Ben-Zeev, B.

AU - Bisgaard, A.M.

AU - Coppola, G.

AU - Ellaway, C.

AU - Freilinger, M.

AU - Geerts, S.

AU - Humphreys, P.

AU - Jones, M.

AU - Lane, J.

AU - Larsson, G.

AU - Lotan, M.

AU - Percy, A.

AU - Pineda, M.

AU - Skinner, S.

AU - Syhler, B.

AU - Thompson, S.

AU - Weiss, B.

AU - Engerström, I.W.

AU - Downs, Jennepher

PY - 2016/2/5

Y1 - 2016/2/5

N2 - © 2016 Jefferson et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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

AB - © 2016 Jefferson et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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

U2 - 10.1371/journal.pone.0146824

DO - 10.1371/journal.pone.0146824

M3 - Article

VL - 11

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EP - 18

JO - P L o S One

JF - P L o S One

SN - 1932-6203

IS - 2

M1 - e0146824

ER -