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不列颠哥伦比亚省非特异性智力迟钝的同胞风险。

Sib risks for nonspecific mental retardation in British Columbia.

作者信息

Herbst D S, Baird P A

出版信息

Am J Med Genet. 1982 Oct;13(2):197-208. doi: 10.1002/ajmg.1320130210.

Abstract

Cases of nonspecific mental retardation (MR) born in British Columbia between 1952 and 1970 ascertained through the British Columbia Health Surveillance Registry were linked by birth registration number to family sibships from computer-linked groupings of birth and marriage records in British Columbia. It was possible to retrieve family information for 97% of the cases by this method. Because of good ascertainment and relatively large sample size, the 1952-1965 birth cohort comprising 2,209 index cases was selected for calculations of overall risks and recurrence risks to sibs categorized by sex, MR level, associated neurological disability, and singleton versus multiple birth. The overall risk of affected individuals among all sibs was 4.4 +/- 0.6%, which was about ten times greater than the minimum population incidence of nonspecific MR. The risk among subsequent sibs of the first affected case in a family was 3.7 +/- 0.8%. These risks varied depending on sex, MR level, and whether the mental retardation was associated with hydrocephalus, microcephalus, cerebral palsy, or epilepsy. The recurrence risk after two affected individuals was 12 +/- 7%--about three times greater than after one affected individual. Even though the frequency of MR is greater among twins than in the overall population, the recurrence risk of nonspecific MR was not significantly different for index cases from either singleton or multiple births.

摘要

通过不列颠哥伦比亚省健康监测登记处确定的1952年至1970年间在不列颠哥伦比亚省出生的非特异性智力迟钝(MR)病例,通过出生登记号码与不列颠哥伦比亚省出生和婚姻记录的计算机关联分组中的家庭同胞关系相联系。通过这种方法可以检索到97%病例的家庭信息。由于确定率高且样本量相对较大,选择了包括2209例索引病例的1952 - 1965年出生队列,以计算按性别、MR水平、相关神经残疾以及单胎与多胎分类的同胞的总体风险和复发风险。所有同胞中受影响个体的总体风险为4.4±0.6%,约为非特异性MR最低人群发病率的十倍。家庭中首个受影响病例的后续同胞的风险为3.7±0.8%。这些风险因性别、MR水平以及智力迟钝是否与脑积水、小头畸形、脑瘫或癫痫相关而有所不同。两个受影响个体后的复发风险为12±7%,约为一个受影响个体后的三倍。尽管双胞胎中MR的发生率高于总体人群,但单胎或多胎出生的索引病例非特异性MR的复发风险没有显著差异。

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