The pattern of Down syndrome among children in Qatar: A population-based study
The pattern of Down syndrome among children in Qatar: A population-based study
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DOI：
10.1002/bdra.20290
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发表时间：
2006-08-01
影响因子：
--
通讯作者：
Hoffmann, Georg F.
中科院分区：
文献类型：
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作者：
Wahab, Atqah Abdul;Bener, Abdulbari;Hoffmann, Georg F.
背景：本研究的目的是确定卡塔尔国5岁以下儿童唐氏综合征（DS）的患病率模式。这是一项回顾性描述性研究。该研究在哈马德总医院、妇女医院和鲁迈拉医院（哈马德医疗公司）进行。在2000年1月1日至2005年12月31日的6年期间，共有146名儿童报告患有DS。方法：根据国际疾病分类第10次修订版（ICD-10）的标准对确定性DS进行诊断分类。从病历中收集的数据包括儿童的社会人口学特征、遗传和家族史、系谱分析和临床遗传检查。结果：在过去的6年中，共有146名儿童被诊断患有DS，患病率为19.5/10，000活产。其中，40.4%为卡塔尔人，59.6%为非卡塔尔人。DS在男孩中（52.7%）比女孩（47.3%）略多见。< 1岁的婴儿最高。DS的发生率最高（40.4%），其次是儿童（1-2）岁（26%）。最常见的异常是规则三体（98%）。此外，一半的研究儿童有先天性心脏病（51.7%），DS和母亲年龄之间有显着的关系，如其他国家的其他研究报告。结论：在DS儿童中识别特定类型的染色体异常非常重要，因为它使临床医生能够准确地向父母提供有关复发风险和可用选择的建议。
BACKGROUND:,The objective of the present study was to determine the prevalence pattern of Down Syndrome (DS) in children < 5 years of age in the State of Qatar. This is a retrospective descriptive study. The study was conducted in the Hamad General Hospital, Women's Hospital, and Rumailah Hospital (Hamad Medical Corporation). A total of 146 children were reported as having DS during the 6-year period from I January 2000 to December 31, 2005. METHODS: The diagnostic classification of definitive DS was made in accordance with criteria based on the International Classification of Disease 10th Revision (ICD-10). The data collected from the medical records included sociodemographic characteristics of the children, genetic and family history, pedigree analysis, and clinical genetic examination. RESULTS: A total of 146 children were diagnosed with DS during the last 6-year period and the prevalence rate is 19.5 per 10,000 live births. Of these, 40.4% were Qataris and 59.6% were non-Qataris. DS was slightly more common in boys (52.7%) than girls (47.3%). Infants < 1 year old had the high. est frequency of DS (40.4%), followed by children (1-2) years (26%). The most common abnormality was regular trisomy (98%). Also, one-half of the studied children had congenital heart problems (51.7%), There is a significant relationship between DS and maternal age as reported by other studies in other countries. CONCLUSION: The identification of specific types of chromosomal abnormalities in DS children is important as it enables clinicians to accurately counsel the parent regarding the recurrence risk and available options.