The four ages of Down syndrome
The four ages of Down syndrome
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DOI：
10.1093/eurpub/ckl103
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发表时间：
2007-04-01
影响因子：
4.4
通讯作者：
Glasson, Emma J.
中科院分区：
文献类型：
--
作者：
Bittles, Alan H.;Bower, Carol;Glasson, Emma J.
背景：唐氏综合症（DS）影响大约每650-1000个活产婴儿中有1个，是已知最常见的智力残疾遗传原因。在过去的两代人中，DS患者的存活率发生了非常显著的变化，预期寿命从12岁增加到近60岁。研究对象和方法：从1953年至2000年期间西澳大利亚州范围内的专家数据库中提取了1332名DS患者的详细信息，并与其他三个州或全国健康和死亡率数据源以及州出生缺陷登记处进行了电子链接。结果：在过去的25年中，35岁以上妇女的分娩比例从4.8%增加到18.6%，同时DS的总体患病率从1.1‰增加到2.9‰。确定了退行性痴呆的四个生命阶段：产前、儿童期和成年早期、成年期和老年期。尽管肺炎或其他类型的呼吸道感染是整个生命周期中最常见的死亡原因，从成年期死亡的23%到老年期死亡的40%不等，但每个生命阶段都表现出特定的合共病。先天性心脏缺陷是儿童期（13%）和成年期（23%）的常见原因，而在老年期，冠状动脉疾病（10%）和心脏、肾脏和呼吸衰竭（9%）是主要死亡原因。结论：需要对退行性痴呆的态度进行重大的重新评估，以确保退行性痴呆患者在其整个生命周期内的医疗和社会需求得到充分满足。特别是，需要对不同年龄可能出现的合并症进行具体认识，同时提供适当水平的护理和管理。
Background: Down syndrome (DS) affects similar to 1 per 650-1000 live births and is the most common known genetic cause of intellectual disability. A highly significant change in the survival of people with DS has occurred during the last two generations, with life expectancy estimates increasing from 12 to nearly 60 years of age. Subjects and Methods: Detailed information on 1332 people in Western Australia with DS was abstracted from a specialist statewide database for the period 1953-2000 and electronically linked with three other state or national health and mortality data sources and the state Birth Defects Registry. Results: Over the last 25 years the percentage of women over 35 years giving birth increased from 4.8 to 18.6%, accompanied by an increase in the overall prevalence of DS from 1.1 to 2.9 per 1000 births. Four life stages of DS were identified: prenatal, childhood and early adulthood, adulthood, and senescence. Although pneumonia, or other types of respiratory infections, was the most common cause of death across the entire lifespan, ranging from 23% of deaths in adulthood to 40% in senescence, each life stage exhibited a particular profile of comorbidities. Congenital heart defects were common causes in childhood (13%) and adulthood (23%), whereas in senescence coronary artery disease (10%) and cardiac, renal, and respiratory failure (9%) were leading causes of mortality. Conclusions: A major re-appraisal in attitudes towards DS is required to ensure that the medical and social needs of people with the disorder are adequately met across their entire lifespan. In particular, specific recognition of the comorbidities that can arise at different ages is needed, accompanied by the provision of appropriate levels of care and management.