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A Family Genetic Study of Autism Associated with Profound Mental Retardation

机译:自闭症与严重智力低下相关的家庭遗传研究

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We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-10 criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) study. The familial loading for autism and for the broader phenotype was closely comparable to that in the study of higher IQ autism, and different from that for Down syndrome. The family loading for scholastic achievement difficulties was slightly, but significantly, higher when autism was accompanied by severe retardation.
机译:我们试图根据自闭症是否伴有严重的智力低下来确定广泛的自闭症表型或认知障碍的家庭负担是否有所不同。根据自闭症诊断访谈和自闭症诊断观察时间表评估,该样本包括47位符合ICD-10标准的自闭症先证者。在Bolton等人的研究中,将家族史访谈和发现与智商较高的自闭症和唐氏综合症样本进行了比较。 (1994年)研究。自闭症和更广泛的表型的家族负担与智商较高的自闭症的研究非常相似,并且与唐氏综合症不同。当自闭症伴有严重智障时,家庭为学习成就困难所承受的负担稍有增加,但显着增加。

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