ABSTRACT Angelman syndrome (AS) is a severe genetic neurodevelopmental disorder with an estimated prevalence of 1:20,000. Life expectancy appears to be normal, however, data regarding lifespan in AS are scarce. Until 2018, there was no unique diagnosis code for AS, thus true incidence, prevalence, mortality and morbidity rates are unknown. A social media effort was launched by caregivers of people with AS to gather community‐sourced data to understand AS mortality risks. Information on 220 deaths was verified with obituaries and public postings. Respiratory illness was the primary cause of death among people with AS overall, followed by accidents and seizures. Surprisingly, sudden unexpected death in sleep (SUDS) was the fourth most common cause, which has not been reported previously. Approximately 91% of people with AS have epilepsy, thus some SUDS cases may represent sudden unexpected deaths in epilepsy (SUDEP). Causes of death vary by age, and differ from the general population. Though there are obvious limitations to data collected through social media, grass roots science is a starting point to amass preliminary data and inform future epidemiological research on AS.

Adriana T. Gomes

Amanda Moore

Meagan Cross

Cristy Hardesty

Kelly David

Maria Galan Sampedro

Sophie Dube

Sharon Weil‐Chalker

Adela Gentil Montepagano

Ursula Christel

Rachel Martin

Anne Wheeler

Wen‐Hann Tan

Lynne M. Bird

Terry Jo Bichell

American Journal of Medical Genetics Part A

美国医学遗传学杂志 - A 部分 (AJMG) 为您提供遗传疾病和出生缺陷的所有生物学和医学方面的持续报道，以及在当前基因型/表型相关性的背景下深入记录表型分析。除了 A 部分，AJMG 还出版了另外两个部分： B 部分：神经精神遗传学，涵盖了对神经和精神疾病遗传机制的实验和临床研究。 C 部分：医学遗传学研讨会，客座编辑的主题评论合集AJMG 读者的热门话题。

The American Journal of Medical Genetics, Part A focuses on the biological and medical aspects of genetic disorders and birth defects, providing ongoing research and in-depth analysis of phenotype in the context of current genotype/phenotype correlations. In addition to Part A, AJMG publishes two other parts: Part B, which covers experimental and clinical studies on the genetic mechanisms of neuropsychiatric disorders; and Part C, which is a collection of themed reviews edited by guest editors on topics of interest to AJMG readers.

《American Journal of Medical Genetics, Part A》（美国医学遗传学杂志 - A 部分）专注于遗传疾病和出生缺陷的生物学与医学各个方面的持续研究，深入探讨基因型与表型之间的关系。除了 A 部分外，AJMG 还出版了两个其他部分：B 部分专注于神经精神遗传学，涵盖神经和精神疾病的遗传机制的实验与临床研究；C 部分则是医学遗传学研讨会，汇集了客座编辑对AJMG读者感兴趣的热门话题的评论合集。

American Journal of Medical Genetics, Part A

Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)

社区来源的安格曼综合征死亡报告（1979-2022年）

Category	Quartile
生物学	4
生物学, 遗传学	4

Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)

ivySCI AI Smartly Parses PDF, Answers Researchers' Questions, and Helps You Understand Papers in Seconds

Journal Info

Category	Quartile
GENETICS & HEREDITY	3