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瑞典西部先天性特发性脑瘫的遗传和非遗传病因的估计频率。

Estimated frequency of genetic and nongenetic causes of congenital idiopathic cerebral palsy in west Sweden.

作者信息

Costeff H

机构信息

PO Box 5026, 47140 Ramat Hasharon, Isreal.

出版信息

Ann Hum Genet. 2004 Sep;68(Pt 5):515-20. doi: 10.1046/j.1529-8817.2004.00105.x.

Abstract

Mathematical analysis of prenatal and perinatal risk factors was performed on the first 681 published cases of idiopathic congenital cerebral palsy (born 1959-1970) in the west Swedish population-based cerebral palsy (CP) study. Analysis indicates that an estimated 40% of etiologically undiagnosed cases of CP in the community (48% of those born at term and 24% of those born prematurely) are genetically caused. These proportions of genetic causation are no less in CP than in idiopathic mental retardation. Genetic causes account for 60% of maturely born hemiplegics, 45% of maturely born spastic diplegics, 32% of premature spastic diplegics and virtually all cases of pure ataxia. About 23% of CP cases in the community have suffered nongenetic brain damage in accordance with the two-stage model. The residue of 37% is characterized by a single risk factor, usually perinatal.

摘要

在瑞典西部基于人群的脑瘫(CP)研究中,对首批公布的681例特发性先天性脑瘫病例(出生于1959年至1970年)进行了产前和围产期危险因素的数学分析。分析表明,社区中病因未确诊的脑瘫病例估计有40%(足月出生者的48%和早产者的24%)是由遗传因素导致的。这些遗传因素导致的比例在脑瘫中并不低于特发性智力迟钝。遗传因素导致的病例在足月出生的偏瘫患者中占60%,在足月出生的痉挛性双瘫患者中占45%,在早产痉挛性双瘫患者中占32%,几乎所有单纯共济失调病例都是由遗传因素导致的。根据两阶段模型,社区中约23%的脑瘫病例遭受了非遗传性脑损伤。其余37%的病例具有单一危险因素,通常是围产期因素。

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