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唐氏综合征
Down Syndrome


Marilyn J. Bull ... 其他 • 2020.06.11

唐氏综合征(DS)是伴有智力障碍的最常见的染色体疾病,并且有多种其他临床表现。全球新生儿中的发病率约为1/800。美国有20多万人患DS,每年约有500名活产儿患DS 1。1866年,英国康沃尔的医师约翰·兰登·唐(John Langdon Down)最早描述了这一综合征2。90多年后,研究者确定了其染色体病因3,4,此综合征被命名为唐氏综合征5

人们日益认识到DS患者的发育和社会化潜力,并广泛实施了对DS患儿及其家庭的早期支持,但在获得医疗资源和其他支持资源方面仍然存在差异。不同患者的表型有相当大的差异,智力障碍多为中度,但范围从轻度至重度不等,而社会功能相对于认知障碍而言往往较高。DS的发病率和表现也因民族背景和地理区域不同而存在差异。





作者信息

Marilyn J. Bull, M.D.
From the Division of Developmental Pediatrics, Riley Hospital for Children at Indiana University Health, Indianapolis. Address reprint requests to Dr. Bull at 1002 Wishard Blvd., Suite 3120, Indianapolis, IN 46202, or at mbull@iu.edu.

 

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