Fombonne E, Bolton P, Prior J, Jordan H, Rutter M
MRC Child Psychiatry Unit and Social, Genetic and Developmental Psychiatry Research Centre, London, U.K.
J Child Psychol Psychiatry. 1997 Sep;38(6):667-83. doi: 10.1111/j.1469-7610.1997.tb01694.x.
First-degree relatives of 99 autism probands and of 36 Down's syndrome controls were assessed with standardised tests of intellectual functioning, reading, and spelling. Higher mean verbal IQ scores, and discrepancies in favour of verbal scores, were characteristic of autism relatives. No consistent differences were found on performance scales, reading, and spelling tests. Among autism relatives, siblings affected with the broad phenotype of autism had significantly lower IQ scores and poorer reading and spelling performances than unaffected siblings. However, the small size of the cognitive difference and the lack of a distinctive cognitive profile indicates that standardised cognitive measures used in this study are unlikely to improve the operationalised definition of the broad phenotype of autism. The slightly superior verbal performance of relatives in the autism group might represent some form of heterozygote advantage.
对99名自闭症先证者和36名唐氏综合征对照者的一级亲属进行了智力功能、阅读和拼写的标准化测试。自闭症亲属的特点是平均言语智商得分较高，且言语得分更具优势。在操作量表、阅读和拼写测试中未发现一致的差异。在自闭症亲属中，患有广泛自闭症表型的兄弟姐妹的智商得分明显低于未受影响的兄弟姐妹，阅读和拼写表现也较差。然而，认知差异较小且缺乏独特的认知特征表明，本研究中使用的标准化认知测量方法不太可能改进自闭症广泛表型的操作性定义。自闭症组亲属稍优越的言语表现可能代表某种形式的杂合优势。
