Lainhart Janet E, Ozonoff Sally, Coon Hilary, Krasny Lori, Dinh Elena, Nice Julie, McMahon William
Department of Psychiatry, University of Utah, Salt Lake City, UT 84108-1236, USA.
Am J Med Genet. 2002 Dec 1;113(3):231-7. doi: 10.1002/ajmg.10615.
The broader autism phenotype (BAP) is a subclinical set of personality and other features that is thought to index familiality and/or genetic liability to autism. Eighteen parents of autistic probands with a history of language regression and 70 parents of autistic probands without regression were assessed for features of the BAP and compared with published rates in parents of nonautistic subjects. Parents of probands with regressive and nonregressive autism demonstrated similar rates of the BAP (27.8% vs. 32.9%; P = 0.33). The rate of the BAP was significantly higher in both groups of autism parents than in parents of nonautistic subjects (P < or = 0.01). Thus, this measure of genetic liability is increased equally in families with both forms of autism when compared with controls. Environmental events are therefore unlikely to be the sole cause of regressive autism in our sample. Environmental events, however, may act in an additive or "second-hit" fashion in individuals with a genetic vulnerability to autism.
广泛自闭症表型（BAP）是一组亚临床的人格及其他特征，被认为可指示自闭症的家族性和/或遗传易感性。对18名有语言倒退史的自闭症先证者的父母以及70名无倒退史的自闭症先证者的父母进行了BAP特征评估，并与非自闭症受试者父母的已发表率进行比较。有倒退型和非倒退型自闭症先证者的父母表现出相似的BAP发生率（27.8%对32.9%；P = 0.33）。两组自闭症父母的BAP发生率均显著高于非自闭症受试者的父母（P≤0.01）。因此，与对照组相比，这两种自闭症形式的家庭中遗传易感性的这一指标均同等增加。所以，在我们的样本中，环境因素不太可能是倒退型自闭症的唯一原因。然而，环境因素可能以累加或“二次打击”的方式作用于对自闭症具有遗传易感性的个体。
