The changing survival profile of people with Down's syndrome: implications for genetic counselling
The changing survival profile of people with Down's syndrome: implications for genetic counselling
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DOI：
10.1034/j.1399-0004.2002.620506.x
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发表时间：
2002-11-01
影响因子：
3.5
通讯作者：
Bittles, AH
中科院分区：
文献类型：
--
作者：
Glasson, EJ;Sullivan, SG;Bittles, AH
队列研究表明，在过去的50年里，唐氏综合症患者的存活率显著提高。由于心脏外科手术和一般健康管理方面的进步，幼儿生存情况尤其有了重大改善。目前的研究基于西澳大利亚1332名唐氏综合症患者的连续队列，这些患者在1953年至2000年间在智力残疾服务机构登记。他们的预期寿命为58.6岁，25%的人活到62.9岁，最长寿的人是73岁。男性的预期寿命比女性长3.3岁。在整个研究期间，生存率的大幅提高意味着唐氏综合症患者的预期寿命正在接近一般人群的预期寿命，但伴随着一系列重大的中年健康问题。这些发现对所有发达国家都有意义，对有唐氏综合症风险的家庭提供咨询信息具有重要意义。
Cohort studies have indicated that the survival of individuals with Down's syndrome has dramatically increased over the past 50 years. Early childhood survival in particular has shown major improvement, due largely to advances in cardiac surgery and in general health management. The present study was based on a continuous cohort of 1332 people with Down's syndrome in Western Australia, registered for intellectual disability services between 1953 and 2000. Their life expectancy was 58.6 years, 25% lived to 62.9 years, and the oldest living person is 73 years of age. Life expectancy for males was greater than females by 3.3 years. The substantial increase in survival across the study period means that the life expectancy of people with Down's syndrome is approaching that of the general population, but accompanied by a range of significant mid-life health problems. The findings are of relevance to all developed countries and have considerable implications in terms of the counselling information provided to families at risk of having a child with Down's syndrome.