Developmental Paediatric Group, Mater Medical Research Institute, South Brisbane, Queensland, Australia.
Foundation for Angelman Syndrome Therapeutics Australia, Brisbane, Queensland, Australia.
J Intellect Disabil Res. 2018 May;62(5):431-443. doi: 10.1111/jir.12482.
Angelman syndrome (AS) is a rare neurodevelopmental disorder affecting between 1 in 15 000 and 1 in 24 000 individuals. The condition results in severe developmental and expressive language delays, motor impairments and a unique behavioural phenotype consisting of excessive laughter, smiling and sociability. While many studies have contributed knowledge about the causes and natural history of the syndrome, large scale longitudinal studies are required to advance research and therapeutics for this rare syndrome.
This article describes the protocol for the Global Angelman Syndrome Registry, and some initial findings. Due to the rarity of AS and the variability in symptom presentation, the registry team will strive for complete case ascertainment. Parents and caregivers will submit data to the registry via a secure internet connection. The registry consists of 10 modules that cover patient demographics; developmental, diagnostic, medical and surgical history, behaviour and development, epilepsy, medications and interventions and sleep.
Since its launch at https://angelmanregistry.info in September 2016, almost 470 individuals with AS have been signed up to the registry worldwide: 59% are from North and South America, 23% are from Europe, 17% are from the Asia Pacific region and 1% are from the Middle East or Africa. The majority of registrants are children, with only 16% aged over 20 years. Most participants indicated a chromosome deletion (76%), with fewer participants indicating a mutation, uniparental disomy or imprinting defect (20%).
Findings indicate a need to consider recruitment strategies that target caregivers of older children and adults, and parents and caregivers from non-English speaking backgrounds.
天使综合征（AS）是一种罕见的神经发育障碍，影响每 15000 至 24000 人中的 1 人。该病症导致严重的发育和表达语言迟缓、运动障碍以及独特的行为表型，包括过度大笑、微笑和社交能力。虽然许多研究都为该综合征的病因和自然史提供了知识，但需要大规模的纵向研究来推进对这种罕见综合征的研究和治疗。
本文描述了全球天使综合征登记处的方案，以及一些初步发现。由于 AS 的罕见性和症状表现的可变性，登记处团队将努力进行完整的病例确定。父母和照顾者将通过安全的互联网连接向登记处提交数据。该登记处由 10 个模块组成，涵盖患者人口统计学；发育、诊断、医疗和手术史、行为和发育、癫痫、药物和干预以及睡眠。
自 2016 年 9 月在 https://angelmanregistry.info 推出以来，全球已有近 470 名 AS 患者注册到该登记处：59%来自北美和南美，23%来自欧洲，17%来自亚太地区，1%来自中东或非洲。登记处的大多数参与者是儿童，只有 16%年龄超过 20 岁。大多数参与者表示存在染色体缺失（76%），而较少的参与者表示存在突变、单亲二倍体或印记缺陷（20%）。
研究结果表明，需要考虑针对年长儿童和成人的照顾者以及非英语背景的父母和照顾者的招募策略。
