Department is department of psychiatry, Massachusetts General Hospital, Boston, MA, USA.
Lurie Center for Autism, Lexington, MA, USA.
Expert Rev Neurother. 2023 Jul-Dec;23(9):835-844. doi: 10.1080/14737175.2023.2245568. Epub 2023 Aug 21.
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, limited expressive language, epilepsy, and motor impairment. Angelman syndrome is caused by haploinsufficiency of the UBE3A gene on the maternal copy of chromosome 15. There have been ongoing advances in the understanding of neurological, behavioral, and sleep-based problems and associated treatments for patients with AS. These results along with gene-based therapies entering into clinical development prompted this review.
The authors summarize the research basis describing phenomenology of epilepsy and behavioral concerns such as hyperactivity behavior, aggression, self-injury, repetitive behavior, and sleep disorder. The evidence for recent treatment advances in these target symptom domains of concern is reviewed, and the potential for emerging gene therapy treatments is considered.
The prospect for emerging gene therapies means that increasing efforts should be directed toward the early identification of AS implemented equitably. Recent studies emphasize the important role of behavioral therapy in addressing mental health concerns such as aggression and disordered sleep.
天使综合征（AS）是一种神经发育障碍，其特征是智力残疾、语言表达受限、癫痫和运动障碍。AS 是由于 15 号染色体母本拷贝上 UBE3A 基因的单倍剂量不足引起的。目前，人们对 AS 患者的神经、行为和睡眠问题及其相关治疗的理解不断深入。这些研究结果以及正在进入临床开发的基因治疗促使我们进行了此次综述。
作者总结了描述癫痫发作和行为问题（如多动行为、攻击行为、自残行为、重复行为和睡眠障碍）的研究基础。综述了这些关注的目标症状领域中近期治疗进展的证据，并考虑了新兴基因治疗的潜力。
新兴基因治疗的前景意味着应该更加努力地进行早期识别和公平实施。最近的研究强调了行为疗法在解决精神健康问题（如攻击行为和睡眠障碍）方面的重要作用。
