Mortality in Down's syndrome in relation to congenital malformations
Mortality in Down's syndrome in relation to congenital malformations
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DOI：
10.1046/j.1365-2788.1999.00198.x
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发表时间：
1999-06-01
影响因子：
3.6
通讯作者：
Annerén, G
中科院分区：
文献类型：
--
作者：
Frid, C;Drott, P;Annerén, G
唐氏综合症（DS）是最常见的智力障碍。该综合征的特点是先天性畸形，尤其是心脏和胃肠道的先天性畸形，这可能导致受影响人群的高死亡率。在过去的几十年里，这种综合征的医疗方法已经取得了许多进步，工业界 DS 患者的生存率也有所提高。本研究的目的是调查与先天畸形相关的死亡率。研究人员对 1973 年至 1980 年间在瑞典北部出生的所有患有 DS 的活产儿的医疗记录进行了研究，并记录了畸形和死亡原因。在该研究纳入的 219 名儿童中，47.5% 的受试者患有先天性心脏病，其中 42.1% 患有完全性房室间隔缺损。 7.3% 的受试者存在胃肠道畸形，并且经常与心脏畸形和非常高的死亡率相关。分别有 5.5% 和 5.5% 的受试者存在其他主要和次要先天性异常。在对213名儿童进行的14.5年随访中，存活率为75.6%。出生后一年内和十年内的死亡率分别为 14.6% 和 23.5%。有先天性心脏病（44.1%）和无先天性心脏病（4.5%）的儿童 10 年内死亡率存在显着差异。患有先天性心脏病的儿童死亡率非常高，尤其是合并胃肠道畸形时。
Down's syndrome (DS) is the most common form of intellectual disability. The syndrome is characterized by congenital malformations, especially of the heart and gastrointestinal tract, which can result in high mortality rates in the affected population. Many improvements have been made in the medical treatment of this syndrome during the past few decades and the survival of individuals with DS has increased in the industrial world. The aim of the present study was to investigate mortality in relation to congenital malformations. Medical records from all liveborn children with DS delivered between 1973 and 1980 in northern Sweden were studied, and malformations and causes of death were recorded. Out of the 219 children included in the study, a congenital heart defect was reported in 47.5% of subjects, 42.1% of whom had complete atrioventricular septal defect. Gastrointestinal tract malformations were present in 7.3% of subjects, and was frequently associated with a cardiac malformation and a very high mortality rate. Other major and minor congenital anomalies were present in 5.5% and 5.5% of subjects, respectively. In the 14.5-year follow-up of 213 children, the rare of survival was 75.6%. Mortality by rates within one and 10 years after birth were 14.6% and 23.5%, respectively. Mortality within 10 years differed significantly between children with (44.1%) and without (4.5%) a congenital heart defect. A very high mortality rate was observed among children with a congenital heart defect, especially when it was combined with a gastrointestinal malformation.