Suppr超能文献

科威特400名收容机构中智力障碍患者的疾病概况。

Disease profile of 400 institutionalized mentally retarded patients in Kuwait.

作者信息

Farag T I, al-Awadi S A, el-Badramary M H, Aref M A, Kasrawi B, Krishna Murthy D S, el-Khalifa M Y, Yadav G, Marafie M J, Bastaki L

机构信息

Kuwait Medical Genetics Centre, Maternity Hospital Liaison Genetic Clinic.

出版信息

Clin Genet. 1993 Dec;44(6):329-34. doi: 10.1111/j.1399-0004.1993.tb03910.x.

Abstract

In this preliminary report we summarize the results of a 4-year multidisciplinary systematic, etiological clinicogenetic survey of 400 institutionalized mentally retarded patients in Kuwait. All had an intelligence quotient below 50. A constitutional disorder, as the direct cause of the mental retardation, was found in 203 patients (50.75%)): a chromosomal abnormality in 37 (9.25%), Mendelian disorders in 137 (34.25%), MCA/MR in 22 (5.55%) and CNS malformations in 7 cases (1.75%). In 157 patients (39.35%) a pre-, peri or postnatal cause was ascertained. No etiological diagnosis was detected in 40 patients (10%). A detailed analysis of the "disease profile" is given and compared with the results of previous diagnostic genetic surveys among different institutionalized mentally retarded populations in Western and developing countries.

摘要

在这份初步报告中,我们总结了对科威特400名机构收容的智力迟钝患者进行的为期4年的多学科系统性病因临床遗传学调查结果。所有患者智商均低于50。在203名患者(50.75%)中发现一种体质性疾病作为智力迟钝的直接病因:37名(9.25%)有染色体异常,137名(34.25%)有孟德尔疾病,22名(5.55%)有小头畸形/智力迟钝综合征,7例(1.75%)有中枢神经系统畸形。在157名患者(39.35%)中确定了产前、围产期或产后病因。40名患者(10%)未检测到病因诊断。文中给出了对“疾病概况”的详细分析,并与西方和发展中国家不同机构收容的智力迟钝人群先前的诊断性遗传学调查结果进行了比较。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验