Le Couteur A, Bailey A, Goode S, Pickles A, Robertson S, Gottesman I, Rutter M
Fleming Nuffield Unit, Newcastle Upon Tyne, U.K.
J Child Psychol Psychiatry. 1996 Oct;37(7):785-801. doi: 10.1111/j.1469-7610.1996.tb01475.x.
The diagnostic boundaries of the behavioural phenotype for autism were examined in 28 MZ pairs and 20 DZ same-sex twin pairs, where one or both twins had autism. In the non-autistic cotwin (i.e. in twin pairs discordant for autism) it was common to find language impairments in childhood and social deficits persisting into adulthood. Concordance for this broader phenotype was much greater in MZ pairs than DZ pairs, indicating a strong genetic component. Behavioural and cognitive manifestations of autism were compared both within and between MZ twin pairs. The variation was as great within MZ twin pairs as between pairs, suggesting that it does not index genetic heterogeneity (although aetiological heterogeneity probably exists). Current diagnostic practices need re-evaluation.
对28对同卵双胞胎和20对同性异卵双胞胎进行了研究，这些双胞胎中一个或两个患有自闭症，以此来探究自闭症行为表型的诊断界限。在非自闭症的双胞胎（即自闭症不一致的双胞胎对）中，童年期语言障碍和持续到成年期的社交缺陷很常见。这种更广泛表型的一致性在同卵双胞胎对中比在异卵双胞胎对中要高得多，表明有很强的遗传成分。对同卵双胞胎对内和对之间的自闭症行为和认知表现进行了比较。同卵双胞胎对内的差异与对之间的差异一样大，这表明它不能作为遗传异质性的指标（尽管病因异质性可能存在）。当前的诊断方法需要重新评估。
