Angelman综合征（AS）是一种罕见的神经遗传性疾病，存在于大约1/12,000个体中，以发育迟缓为特征。认知障碍，运动功能障碍,癫痫发作,肠胃问题,脑电图背景异常。AS是由中枢神经系统中父系印迹基因UBE3A的不表达引起的。AS管理中的差异是准备精确治疗的主要问题，甚至在获得专家和公认诊所的患者中也会发生。由于有限的循证文献，AS患者根据集体提供者的经验接受护理。我们提出了共识声明和全面的文献综述，提出了在治疗方法改变疾病自然史的关键时刻进行AS管理的护理实践标准。
我们根据一组AS患者专家的共识，编制了AS的关键公认临床特征。成立了工作组来解决每个重点领域，委员会由管理>5个人的提供者组成。各委员会为其专长领域制定了管理准则。这些文件被汇编成最后文件，以提供标准化管理的框架。来自医学文献的证据也被全面审查。
工作组在共识文件中涵盖的领域包括遗传学，发育医学,心理学,一般健康问题，神经学（包括运动障碍），睡眠,精神病学,骨科,眼科,通信,早期干预和治疗，和照顾者的健康。工作组创建了框架，包括流程图和表格，以帮助提供商快速访问。纳入文献中的数据，以确保提供者审查了经验性与循证护理指南。
AS管理中的护理标准是在新的疾病改善疗法出现的关键时刻确保最佳护理的关键。本文档是所有熟悉级别的提供者的框架。
Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence-based literature. We present a
consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon.
We compiled the key recognized clinical features of AS based on
consensus from a team of specialists managing patients with AS. Working groups were established to address each focus area with committees comprised of providers who manage >5 individuals. Committees developed management
guidelines for their area of expertise. These were compiled into a final document to provide a framework for standardizing management. Evidence from the medical literature was also comprehensively reviewed.
Areas covered by working groups in the
consensus document include genetics, developmental medicine, psychology, general health concerns, neurology (including movement disorders), sleep, psychiatry, orthopedics, ophthalmology, communication, early intervention and therapies, and caregiver health. Working groups created frameworks, including flowcharts and tables, to help with quick access for providers. Data from the literature were incorporated to ensure providers had review of experiential versus evidence-based care
guidelines.
Standards of care in the management of AS are keys to ensure optimal care at a critical time when new disease-modifying therapies are emerging. This document is a framework for providers of all familiarity levels.
