Matilainen R, Airaksinen E, Mononen T, Launiala K, Kääriäinen R
Department of Pediatrics, Kuopio University Hospital, Finland.
Acta Paediatr. 1995 Mar;84(3):261-6. doi: 10.1111/j.1651-2227.1995.tb13626.x.
The causes of mental retardation (MR) were studied as part of a multidisciplinary epidemiological case-control study in 151 mentally retarded patients identified by screening four age cohorts (12,882 children) at 8-9 years of age in the province of Kuopio, Finland. The causes of MR in 77 severely retarded (SD < or = -3 SD) and 74 mildly retarded (-2 > SD > -3) children were divided into pre-, peri-, postnatal and unknown groups according to the probable time of onset. The causes were pre-, peri-, postnatal and unknown in 60%, 9%, 8% and 23%, and 22%, 1%, 3% and 74%, in the two populations, respectively. Genetic causes were found in 28% of all 151 cases; the three most common subgroups were trisomy 21, fragile X syndrome and aspartylglycosaminuria (13%, 4% and 2% respectively). The study design used provided reliable information on the causes of MR and also demonstrated those forms of genetic metabolic diseases typical of Finnish inheritance.
作为一项多学科流行病学病例对照研究的一部分，对芬兰库奥皮奥省151名智力迟钝患者的智力迟钝病因进行了研究。这些患者是通过对4个年龄组（12,882名儿童）在8至9岁时进行筛查确定的。根据可能的发病时间，将77名重度智力迟钝（标准差≤ -3个标准差）和74名轻度智力迟钝（-2＞标准差＞-3）儿童的智力迟钝病因分为产前、围产期、产后和不明原因组。在这两组人群中，病因分别为产前、围产期、产后和不明原因的比例为60%、9%、8%和23%，以及22%、1%、3%和74%。在所有151例病例中，28%发现有遗传病因；三个最常见的亚组分别是21三体综合征、脆性X综合征和天冬氨酰氨基葡糖苷尿症（分别为13%、4%和2%）。所采用的研究设计提供了关于智力迟钝病因的可靠信息，还展示了芬兰遗传特征中典型的那些遗传代谢疾病形式。
