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Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z.
Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep.
A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not have much, if any, empirical support.
The lack of standardized treatment protocols or approved therapies, combined with the severity of the condition, results in high unmet clinical needs in the areas of motor functioning, communication, behavior, and sleep for individuals with AS and their families.
天使综合征（AS）是一种罕见的疾病，具有相对明确的表型。尽管如此，对于这种疾病的未满足的临床需求和负担，我们知之甚少，特别是对于一些最常见的临床特征——运动障碍、沟通障碍、行为和睡眠。
使用电子医疗数据库（例如 PubMed）进行了针对性文献综述，以确定最近专注于 AS 表型特定领域（运动、沟通、行为、睡眠）以及流行病学、诊断过程、治疗和负担的研究。共审查并总结了 142 篇文章。研究结果表明，所有功能领域在整个生命周期中都存在明显的障碍。虽然随着个体年龄的增长，一些问题可能会得到解决（例如多动），但其他问题会变得更糟（例如运动障碍、攻击性、焦虑）。目前没有针对潜在病因的治疗方法，目前开的对症治疗方法几乎没有（如果有的话）实证支持。
缺乏标准化的治疗方案或批准的治疗方法，加上病情的严重程度，导致 AS 患者及其家属在运动功能、沟通、行为和睡眠方面存在高度未满足的临床需求。
