Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence
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 ques...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal Article |
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PLoS ONE
2016
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| Online Access: | http://purl.org/au-research/grants/nhmrc/1004384 http://hdl.handle.net/20.500.11937/44685 |
| _version_ | 1848757072637722624 |
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| author | Jefferson, A. Leonard, H. Siafarikas, A. Woodhead, H. Fyfe, S. Ward, L. Munns, C. Motil, K. Tarquinio, D. Shapiro, J. Brismar, T. Ben-Zeev, B. Bisgaard, A. 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. Downs, Jennepher |
| author_facet | Jefferson, A. Leonard, H. Siafarikas, A. Woodhead, H. Fyfe, S. Ward, L. Munns, C. Motil, K. Tarquinio, D. Shapiro, J. Brismar, T. Ben-Zeev, B. Bisgaard, A. 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. Downs, Jennepher |
| author_sort | Jefferson, A. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T09:22:17Z |
| format | Journal Article |
| id | curtin-20.500.11937-44685 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:22:17Z |
| publishDate | 2016 |
| publisher | PLoS ONE |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-446852019-02-19T05:35:12Z Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence Jefferson, A. Leonard, H. Siafarikas, A. Woodhead, H. Fyfe, S. Ward, L. Munns, C. Motil, K. Tarquinio, D. Shapiro, J. Brismar, T. Ben-Zeev, B. Bisgaard, A. 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. Downs, Jennepher 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. 2016 Journal Article http://hdl.handle.net/20.500.11937/44685 10.1371/journal.pone.0146824 http://purl.org/au-research/grants/nhmrc/1004384 PLoS ONE fulltext |
| spellingShingle | Jefferson, A. Leonard, H. Siafarikas, A. Woodhead, H. Fyfe, S. Ward, L. Munns, C. Motil, K. Tarquinio, D. Shapiro, J. Brismar, T. Ben-Zeev, B. Bisgaard, A. 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. Downs, Jennepher Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence |
| title | Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence |
| title_full | Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence |
| title_fullStr | Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence |
| title_full_unstemmed | Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence |
| title_short | Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence |
| title_sort | clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence |
| url | http://purl.org/au-research/grants/nhmrc/1004384 http://hdl.handle.net/20.500.11937/44685 |