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2023澳大利亚指南:儿童软骨发育不全的管理

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2023澳大利亚指南:儿童软骨发育不全的管理-医知素材库
2023澳大利亚指南:儿童软骨发育不全的管理
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Journal of Paediatrics andChild Healthdot10.1111/jpc.16290GUIDELINESAustralian guidelines for the management of childrenwith achondroplasiaLouise J Tofts ,12 Jennifer A Armstrong,1.3 Stephanie Broley,4.5+Theresa Carroll,+Penelope J Ireland,6.7+Minna Koo,2.8+Katherine Langdon,9.10+Lesley McGregor,11+Fiona McKenzie,4.12+Divyesh Mehta,13.14Ravi Savarirayan,5 Tracy Tate,Alison Wesley Andreas Zankl,Maree Jenner,Marta Eyles andVerity Pacey.BDepartment of Health Sciences,Macquarie University,Departments of Kids Rehab,3Orthopaedics,Clinical Genetics,The Children's Hospital atWestmead,The Children's Hospital at Westmead Clinical School,University of Sydney,Sydney,New South Wales,Genetic Services of Westem Australia,King Edward Memorial Hospital,SUndiagnosed Diseases Program,Kids Rehab WA,Perth Children's Hospital,Telethon Kids Institute,12school ofPaediatrics and Child Health,University of Westem Australia,Curtin University,"Child and Adolescent Health Services,Perth Children's Hospital,Perth,Westem Australia,Queensland Paediatric Rehabilitation Service,Queensland Children's Hospital,School of Health and Rehabilitation Sciences,Universityof Queensland,Brisbane,Queensland,"Paediatric and Reproductive Genetics Unit,Women's and Children's Hospital,Adelaide,isSkeletal Therapies,Murdoch Children's Research Institute,University of Melboume and Medical Advisory Board,Short Statured People of Australia,Melbourne,Victoria,AustraliaAchondroplasia is the most common form of skeletal dysplasia.In addition to altered growth,children and young people with achondroplasiamay experience medical complications,develop and function differently to others and require psychosocial support.International,European andAmerican consensus guidelines have been developed for the management of achondroplasia.The Australian focused guidelines presented hereare designed to complement those existing guidelines.They aim to provide core care recommendations for families and clinicians,consolidatekey resources for the management of children with achondroplasia,facilitate communication between specialist,local teams and families andsupport 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 Healthand 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 com-munity.The guidelines are intended for use by health professionals and children and young people with achondroplasia and their families livingin Australia.Key words:achondroplasia;children;guidelines.Achondroplasia is the most common form of skeletal dysplasiamortality ratio (SMR)of 6.02 (95%confidence intervalbut remains a
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