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Australian guidelines for the management of children with achondroplasia.
Tofts, Louise J; Armstrong, Jennifer A; Broley, Stephanie; Carroll, Theresa; Ireland, Penelope J; Koo, Minna; Langdon, Katherine; McGregor, Lesley; McKenzie, Fiona; Mehta, Divyesh; Savarirayan, Ravi; Tate, Tracy; Wesley, Alison; Zankl, Andreas; Jenner, Maree; Eyles, Marta; Pacey, Verity.
Afiliação
  • Tofts LJ; Department of Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
  • Armstrong JA; Kids Rehab, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Broley S; Department of Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
  • Carroll T; Department of Orthopaedics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Ireland PJ; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
  • Koo M; Undiagnosed Diseases Program, Perth Children's Hospital, Perth, Western Australia, Australia.
  • Langdon K; Queensland Paediatric Rehabilitation Service, Queensland Children's Hospital, Brisbane, Queensland, Australia.
  • McGregor L; Queensland Paediatric Rehabilitation Service, Queensland Children's Hospital, Brisbane, Queensland, Australia.
  • McKenzie F; School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, Queensland, Australia.
  • Mehta D; Kids Rehab, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Savarirayan R; The Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.
  • Tate T; Kids Rehab WA, Perth Children's Hospital, Perth, Western Australia, Australia.
  • Wesley A; Telethon Kids Institute, Perth, Western Australia, Australia.
  • Zankl A; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, Australia.
  • Jenner M; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
  • Eyles M; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
  • Pacey V; Curtin University, Perth, Western Australia, Australia.
J Paediatr Child Health ; 59(2): 229-241, 2023 02.
Article em En | MEDLINE | ID: mdl-36628540
ABSTRACT
Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines. They aim to provide core care recommendations for families and clinicians, consolidate key resources for the management of children with achondroplasia, facilitate communication between specialist, local teams and families and support delivery of high-quality care regardless of setting and geographical location. The guidelines include a series of consensus statements, developed using a modified Delphi process. These statements are supported by the best available evidence assessed using the National Health and Medicine Research Council's criteria for Level of Evidence and their Grading of Recommendations Assessment, Development and Evaluation (GRADE). Additionally, age specific guides are presented that focus on the key domains of growth, medical, development, psychosocial and community. The guidelines are intended for use by health professionals and children and young people with achondroplasia and their families living in Australia.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acondroplasia Tipo de estudo: Guideline Limite: Adolescent / Child / Humans País/Região como assunto: Oceania Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acondroplasia Tipo de estudo: Guideline Limite: Adolescent / Child / Humans País/Região como assunto: Oceania Idioma: En Ano de publicação: 2023 Tipo de documento: Article