{"title":"A review of Prader-Willi syndrome.","authors":"Seth Metzler, Gina R Brown","doi":"10.1097/01.JAA.0000000000000079","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>Prader-Willi syndrome is a rare and complex genetic disorder with multiple physical and behavioral characteristics, affecting endocrine, metabolic, and neurologic systems and producing a plethora of medical complications. Early identification and diagnosis are paramount to providing timely and appropriate interventions to improve patient outcomes. Treatment should focus on neonatal feeding and growth, followed by hormonal therapy for hypothalamic dysfunction, and should then be directed at the prevention and treatment of obesity and obesity-related complications. Effective treatment requires a comprehensive multidisciplinary approach.</p>","PeriodicalId":48728,"journal":{"name":"Jaapa-Journal of the American Academy of Physician Assistants","volume":"38 2","pages":"e1-e6"},"PeriodicalIF":0.8000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Jaapa-Journal of the American Academy of Physician Assistants","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/01.JAA.0000000000000079","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/23 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract: Prader-Willi syndrome is a rare and complex genetic disorder with multiple physical and behavioral characteristics, affecting endocrine, metabolic, and neurologic systems and producing a plethora of medical complications. Early identification and diagnosis are paramount to providing timely and appropriate interventions to improve patient outcomes. Treatment should focus on neonatal feeding and growth, followed by hormonal therapy for hypothalamic dysfunction, and should then be directed at the prevention and treatment of obesity and obesity-related complications. Effective treatment requires a comprehensive multidisciplinary approach.
期刊介绍:
JAAPA is the peer-reviewed clinical journal of the American Academy of Physician Assistants (AAPA). Published for more than 25 years, its mission is to support the ongoing education and advancement of physician assistants (PAs) by publishing current information and research on clinical, health policy, and professional issues.
Published monthly, JAAPA''s award-winning editorial includes:
-Clinical review articles (with AAPA-approved Category I CME in each issue)-
Case reports-
Clinical departments-
Original health services research-
Articles on issues of professional interest to PAs