{"title":"Angelman Syndrome: Multidisciplinary Management.","authors":"Whitney A Bridges, Heide S Temples, Tracy B Lowe","doi":"10.1016/j.pedhc.2025.06.005","DOIUrl":null,"url":null,"abstract":"<p><p>Angelman syndrome is a rare genetic disorder with various phenotypes caused by the combination of genomic imprinting and loss of the maternal UBE3A gene. The case presentation involves a nine-month-old who continues with developmental delays after working with an early intervention therapist and was later diagnosed with Angelman syndrome following several specialty referrals and genetic testing. Currently, there is no cure for Angelman syndrome, only supportive symptomatic treatment. Angelman syndrome requires a multidisciplinary approach across providers who understand the complex care essential for these patients to thrive. The case study reviews the clinical presentation for early identification of infants with Angelman Syndrome, the diagnostic criteria, symptomatic management, family resources, implications for the primary care provider, and promising future therapies.</p>","PeriodicalId":50094,"journal":{"name":"Journal of Pediatric Health Care","volume":" ","pages":""},"PeriodicalIF":2.5000,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Health Care","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.pedhc.2025.06.005","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEALTH POLICY & SERVICES","Score":null,"Total":0}
引用次数: 0
Abstract
Angelman syndrome is a rare genetic disorder with various phenotypes caused by the combination of genomic imprinting and loss of the maternal UBE3A gene. The case presentation involves a nine-month-old who continues with developmental delays after working with an early intervention therapist and was later diagnosed with Angelman syndrome following several specialty referrals and genetic testing. Currently, there is no cure for Angelman syndrome, only supportive symptomatic treatment. Angelman syndrome requires a multidisciplinary approach across providers who understand the complex care essential for these patients to thrive. The case study reviews the clinical presentation for early identification of infants with Angelman Syndrome, the diagnostic criteria, symptomatic management, family resources, implications for the primary care provider, and promising future therapies.
期刊介绍：
The Journal of Pediatric Health Care, the official journal of the National Association of Pediatric Nurse Practitioners, provides scholarly clinical information and research regarding primary, acute and specialty health care for children of newborn age through young adulthood within a family-centered context. The Journal disseminates multidisciplinary perspectives on evidence-based practice and emerging policy, advocacy and educational issues that are of importance to all healthcare professionals caring for children and their families.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
