GENETIC INFLUENCES AND INFANTILE-AUTISM
GENETIC INFLUENCES AND INFANTILE-AUTISM
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DOI：
10.1038/265726a0
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发表时间：
1977-01-01
期刊：
影响因子：
64.8
通讯作者：
RUTTER, M
中科院分区：
文献类型：
--
作者：
FOLSTEIN, S;RUTTER, M
在他最初对婴儿自闭症的描述中，Kanner认为这是一种“先天缺陷”，因为症状通常在婴儿早期就存在。尽管自闭症家族史罕见，且父母血缘关系也没有增加，但有两个原因可以怀疑遗传的影响：兄弟姐妹中2%的自闭症发病率是普通人群的50倍1，大约四分之一的家庭中有言语迟缓的家族史2。单对自闭症双胞胎的报告并没有增加我们对遗传效应的了解，因为报告单卵（MZ）一致对的偏见，因为很少有报告包含足够的临床描述和合子证据。因此，我们对21对同性双胞胎进行了一项系统收集的样本研究，其中一人或两人都患有自闭症，诊断标准为Kanner3和Rutter4。这里报告的结果表明遗传影响在自闭症病因学中的重要性。
IN his original description of infantile autism, Kanner suggested an “inborn defect”, because symptoms were often present from early infancy. Despite the rarity of a family history of autism and lack of a known increase in parental consanguinity, there are two reasons for suspecting hereditary influences: the 2% rate of autism in siblings is 50 times that of the general population1, and a family history of speech delay is found in about a quarter of families2. Reports of single pairs of twins with autism have not added much to our knowledge of genetic effects because of a bias toward reporting monozygotic (MZ) concordant pairs and because few reports contain both adequate clinical descriptions and evidence of zygosity1. We therefore undertook a study of a systematically collected sample of 21 pairs of same-sexed twins, one or both of whom had autism as diagnosed by the criteria of Kanner3and Rutter4. The results reported here indicate the importance of hereditary influences in the aetiology of autism.