唐氏综合征概述

Suresh Chappa
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引用次数: 0

摘要

与智力障碍有关的最常见染色体疾病是唐氏综合征,通常被称为唐氏综合征(DS),它有许多明显的临床症状。全球大约每 800 名新生儿中就有 1 人患有这种疾病。在美国,每年约有 500 名活产婴儿因唐氏综合征而出生,超过 20 万人受到这种疾病的影响。对该综合征的首次描述可追溯到 1866 年,由英国康沃尔的医生约翰-兰登-唐(John Langdon Down)提出。90 多年后,当这种疾病的染色体病因被确定后,它被称为唐氏综合征。虽然在获得医疗保健和其他支持性服务方面仍存在不平等,但唐氏综合症患者的发展和社会化潜力已得到更广泛的认可,对受影响儿童及其家庭的早期支持也得到广泛采用。患者的表型特征差异很大;智力障碍通常为中度,但也可能是轻度到重度,与认知障碍相比,社会功能通常较好。地理位置和种族血统对 DS 的发病率和表现也有影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An overview of down syndrome
The most prevalent chromosomal disorder linked to intellectual disability is down syndrome, often known as Down's syndrome (DS), which is marked by a number of distinct clinical symptoms. About 1 in 800 newborns globally experience it. Approximately 500 live births are caused by DS each year in the US, while over 200,000 people are affected by the disorder. The first account of the syndrome dates back to 1866 and is credited to the English physician John Langdon Down of Cornwall. When the chromosomal cause of the disorder was identified more than 90 years later, it was termed Down syndrome. Although there is still inequality in access to health care and other supportive services, the potential for the development and socialization of people with Down syndrome has been more widely recognized, and early support for impacted children and their families is extensively adopted. Patients vary greatly in their phenotypic characteristics; intellectual disability is typically moderate but can be mild to severe, and social function is frequently good in comparison to cognitive impairment. Geographical location and ethnic origin also have an impact on the incidence and presentation of DS.
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