Strømme P
Department of Paediatrics, The National Hospital, Rikshospitalet, University of Oslo, Norway.
Dev Med Child Neurol. 2000 Feb;42(2):76-86. doi: 10.1017/s0012162200000165.
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.
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。