The first European consensus on principles of management for achondroplasia
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10316/105313 https://doi.org/10.1186/s13023-021-01971-6 |
Resumo: | Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to delivery of care. To address these challenges the European Achondroplasia Forum (EAF), a network of senior clinicians and orthopaedic surgeons from Europe and the Middle East representative of the achondroplasia clinical community, came together with the overall aim of improving patient outcomes. The EAF developed a consensus on guiding principles of management of achondroplasia to provide a basis for developing optimal care in Europe. All members of the EAF were invited to submit suggestions for guiding principles of management, which were consolidated and then discussed during a meeting in December 2020. The group voted anonymously on the inclusion of each principle, with the requirement of a 75% majority at the first vote to pass the principle. A vote on the level of agreement was then held. A total of six guiding principles were developed, which cover management over the lifetime of a person with achondroplasia. The principles centre on the lifelong management of achondroplasia by an experienced multidisciplinary team to anticipate and manage complications, support independence, and improve quality of life. There is focus on timely referral to a physician experienced in the management of achondroplasia on suspicion of the condition, shared decision making, the goals of management, access to adaptive measures to enable those with achondroplasia to access their environment, and the importance of ongoing monitoring throughout adolescence and adulthood. All principles achieved the 75% majority required for acceptance at the first vote (range 91-100%) and a high level of agreement (range 8.5-9.6). The guiding principles of management for achondroplasia provide all healthcare professionals, patient advocacy groups and policy makers involved in the management of achondroplasia with overarching considerations when developing health systems to support the management of achondroplasia. |
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The first European consensus on principles of management for achondroplasiaAchondroplasiaGuiding principlesEuropean Achondroplasia ForumAdolescentAdultConsensusEuropeHumansLongitudinal StudiesReceptor, Fibroblast Growth Factor, Type 3AchondroplasiaQuality of LifeAchondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to delivery of care. To address these challenges the European Achondroplasia Forum (EAF), a network of senior clinicians and orthopaedic surgeons from Europe and the Middle East representative of the achondroplasia clinical community, came together with the overall aim of improving patient outcomes. The EAF developed a consensus on guiding principles of management of achondroplasia to provide a basis for developing optimal care in Europe. All members of the EAF were invited to submit suggestions for guiding principles of management, which were consolidated and then discussed during a meeting in December 2020. The group voted anonymously on the inclusion of each principle, with the requirement of a 75% majority at the first vote to pass the principle. A vote on the level of agreement was then held. A total of six guiding principles were developed, which cover management over the lifetime of a person with achondroplasia. The principles centre on the lifelong management of achondroplasia by an experienced multidisciplinary team to anticipate and manage complications, support independence, and improve quality of life. There is focus on timely referral to a physician experienced in the management of achondroplasia on suspicion of the condition, shared decision making, the goals of management, access to adaptive measures to enable those with achondroplasia to access their environment, and the importance of ongoing monitoring throughout adolescence and adulthood. All principles achieved the 75% majority required for acceptance at the first vote (range 91-100%) and a high level of agreement (range 8.5-9.6). The guiding principles of management for achondroplasia provide all healthcare professionals, patient advocacy groups and policy makers involved in the management of achondroplasia with overarching considerations when developing health systems to support the management of achondroplasia.Springer Nature2021-07-31info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/105313http://hdl.handle.net/10316/105313https://doi.org/10.1186/s13023-021-01971-6eng1750-1172Cormier-Daire, ValerieAlSayed, MoeenaldeenBen-Omran, TawfegSousa, Sérgio Bernardo deBoero, SilvioFredwall, Svein O.Guillen-Navarro, EncarnaIrving, MelitaLampe, ChristianMaghnie, MohamadMortier, GeertPeijin, ZagorkaMohnike, Klausinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-02-16T11:15:20Zoai:estudogeral.uc.pt:10316/105313Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:21:54.555028Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
The first European consensus on principles of management for achondroplasia |
title |
The first European consensus on principles of management for achondroplasia |
spellingShingle |
The first European consensus on principles of management for achondroplasia Cormier-Daire, Valerie Achondroplasia Guiding principles European Achondroplasia Forum Adolescent Adult Consensus Europe Humans Longitudinal Studies Receptor, Fibroblast Growth Factor, Type 3 Achondroplasia Quality of Life |
title_short |
The first European consensus on principles of management for achondroplasia |
title_full |
The first European consensus on principles of management for achondroplasia |
title_fullStr |
The first European consensus on principles of management for achondroplasia |
title_full_unstemmed |
The first European consensus on principles of management for achondroplasia |
title_sort |
The first European consensus on principles of management for achondroplasia |
author |
Cormier-Daire, Valerie |
author_facet |
Cormier-Daire, Valerie AlSayed, Moeenaldeen Ben-Omran, Tawfeg Sousa, Sérgio Bernardo de Boero, Silvio Fredwall, Svein O. Guillen-Navarro, Encarna Irving, Melita Lampe, Christian Maghnie, Mohamad Mortier, Geert Peijin, Zagorka Mohnike, Klaus |
author_role |
author |
author2 |
AlSayed, Moeenaldeen Ben-Omran, Tawfeg Sousa, Sérgio Bernardo de Boero, Silvio Fredwall, Svein O. Guillen-Navarro, Encarna Irving, Melita Lampe, Christian Maghnie, Mohamad Mortier, Geert Peijin, Zagorka Mohnike, Klaus |
author2_role |
author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Cormier-Daire, Valerie AlSayed, Moeenaldeen Ben-Omran, Tawfeg Sousa, Sérgio Bernardo de Boero, Silvio Fredwall, Svein O. Guillen-Navarro, Encarna Irving, Melita Lampe, Christian Maghnie, Mohamad Mortier, Geert Peijin, Zagorka Mohnike, Klaus |
dc.subject.por.fl_str_mv |
Achondroplasia Guiding principles European Achondroplasia Forum Adolescent Adult Consensus Europe Humans Longitudinal Studies Receptor, Fibroblast Growth Factor, Type 3 Achondroplasia Quality of Life |
topic |
Achondroplasia Guiding principles European Achondroplasia Forum Adolescent Adult Consensus Europe Humans Longitudinal Studies Receptor, Fibroblast Growth Factor, Type 3 Achondroplasia Quality of Life |
description |
Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to delivery of care. To address these challenges the European Achondroplasia Forum (EAF), a network of senior clinicians and orthopaedic surgeons from Europe and the Middle East representative of the achondroplasia clinical community, came together with the overall aim of improving patient outcomes. The EAF developed a consensus on guiding principles of management of achondroplasia to provide a basis for developing optimal care in Europe. All members of the EAF were invited to submit suggestions for guiding principles of management, which were consolidated and then discussed during a meeting in December 2020. The group voted anonymously on the inclusion of each principle, with the requirement of a 75% majority at the first vote to pass the principle. A vote on the level of agreement was then held. A total of six guiding principles were developed, which cover management over the lifetime of a person with achondroplasia. The principles centre on the lifelong management of achondroplasia by an experienced multidisciplinary team to anticipate and manage complications, support independence, and improve quality of life. There is focus on timely referral to a physician experienced in the management of achondroplasia on suspicion of the condition, shared decision making, the goals of management, access to adaptive measures to enable those with achondroplasia to access their environment, and the importance of ongoing monitoring throughout adolescence and adulthood. All principles achieved the 75% majority required for acceptance at the first vote (range 91-100%) and a high level of agreement (range 8.5-9.6). The guiding principles of management for achondroplasia provide all healthcare professionals, patient advocacy groups and policy makers involved in the management of achondroplasia with overarching considerations when developing health systems to support the management of achondroplasia. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-07-31 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10316/105313 http://hdl.handle.net/10316/105313 https://doi.org/10.1186/s13023-021-01971-6 |
url |
http://hdl.handle.net/10316/105313 https://doi.org/10.1186/s13023-021-01971-6 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
1750-1172 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Springer Nature |
publisher.none.fl_str_mv |
Springer Nature |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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