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重度和轻度智力障碍的病因:一项基于挪威儿童人群的研究。

Aetiology in severe and mild mental retardation: a population-based study of Norwegian children.

作者信息

Strømme P

机构信息

Department of Paediatrics, The National Hospital, Rikshospitalet, University of Oslo, Norway.

出版信息

Dev Med Child Neurol. 2000 Feb;42(2):76-86. doi: 10.1017/s0012162200000165.

Abstract

The aetiology of mental retardation (MR) was studied in a population-based series of Norwegian children derived from 30 037 children born between 1980 and 1985. The study included 178 children, 79 with severe MR (SMR) (IQ<50) and 99 with mild MR (MMR) (IQ 50 to 70). Aetiology was divided into two main groups: biopathological and unspecified. The biopathological group comprised 96% of SMR and 68% of MMR, and was subdivided into prenatal (70% and 51%), perinatal (4% and 5%), and postnatal damage (5% and 1%), and a group of undetermined timing of the damaging event (18% and 11%). Single-gene disorders accounted for 15 of the 63 children with genetic disorders, including X-linked recessive in six. During the course of the study, at least 27 (15%) children had their aetiological diagnosis revised. Gestational age <32 weeks, birthweight <1500 g, and Apgar scores 0 to 2 at 1 and 5 minutes implied a significantly increased risk of MR, but contributed to only 4% of the children in the study. Decreased birthweight (1500 to 2499 g) and Apgar scores 3 to 6 at 1 and 5 minutes showed increased probability of MR. Despite extensive investigations, 4% of SMR and 32% of MMR were not identified with any biological markers and were considered as unspecified MR, several most probably representing the lower end of the normal IQ distribution in the population.

摘要

在一项基于人群的研究中,对1980年至1985年间出生的30037名挪威儿童进行了智力发育迟缓(MR)病因学研究。该研究纳入了178名儿童,其中79名患有重度智力发育迟缓(SMR)(智商<50),99名患有轻度智力发育迟缓(MMR)(智商50至70)。病因分为两个主要组:生物病理学组和未明确病因组。生物病理学组包括96%的SMR和68%的MMR,又细分为产前(70%和51%)、围产期(4%和5%)和产后损伤(5%和1%),以及一组损伤事件时间未确定的情况(18%和11%)。单基因疾病占63名患有遗传性疾病儿童中的15例,其中6例为X连锁隐性遗传。在研究过程中,至少27名(15%)儿童的病因诊断得到了修正。孕龄<32周、出生体重<1500g以及1分钟和5分钟时阿氏评分0至2分意味着智力发育迟缓风险显著增加,但在研究儿童中仅占4%。出生体重降低(1500至2499g)以及1分钟和5分钟时阿氏评分3至6分显示智力发育迟缓的可能性增加。尽管进行了广泛调查,但4%的SMR和32%的MMR未发现任何生物学标志物,被视为未明确病因的智力发育迟缓,其中一些很可能代表人群中正常智商分布的下限。

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