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Behavioral Comparisons in Autistic Individuals from Multiplex and Singleton Families

机译:多重和单身家庭自闭症个体的行为比较

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Autistic disorder (AD) is a complex neurodevelopmental disorder. The role of genetics in AD etiology is well established, and it is postulated that anywhere from 2 to 10 genes could be involved. As part of a larger study to identify these genetic effects we have ascertained a series of AD families: Sporadic (SP, 1 known AD case per family and no known history of AD) and multiplex (MP, ≥2 cases per family). The underlying etiology of both family types is unknown. It is possible that MP families may constitute a unique subset of families in which the disease phenotype is more likely due to genetic factors. Clinical differences between the two family types could represent underlying genetic heterogeneity. We examined ADI-R data for 69 probands from MP families and 88 from SP families in order to compare and contrast the clinical phenotypes for each group as a function of verbal versus nonverbal status. Multivariate analysis controlling for covariates of age at examination, gender, and race (MANCOVA) revealed no differences between either the verbal or nonverbal MP and SP groups for the three ADI-R area scores: social interaction, communication, and restricted/repetitive interests or behaviors. These data failed to find clinical heterogeneity between MP and SP family types. This supports previous work that indicated that autism features are not useful as tools to index genetic heterogeneity. Thus, although there may be different underlying etiologic mechanisms in the SP and MP probands, there are no distinct behavioral patterns associated with probands from MP families versus SP families. These results suggests the possibility that common etiologic mechanisms, either genetic and/or environmental, could underlie all of AD.
机译:自闭症(AD)是一种复杂的神经发育障碍。遗传学在AD病因中的作用已得到充分确立,并假定可能涉及2至10个基因。作为鉴定这些遗传效应的一项较大研究的一部分,我们确定了一系列AD家族:散发性(SP,每个家族1个已知AD病例,没有AD的已知病史)和多重性(MP,每个家族≥2例)。两种家族类型的潜在病因尚不清楚。 MP家族可能构成家族的独特子集,其中由于遗传因素,疾病表型更有可能出现。两种家族类型之间的临床差异可能代表潜在的遗传异质性。我们比较了来自MP家族的69个先证者和来自SP家族的88个先证者的ADI-R数据,以比较和对比每组的临床表型与语言和非语言状态之间的关系。控制检查,性别和种族的年龄协变量(MANCOVA)的多变量分析显示,在三个ADI-R区域得分中,言语或非言语MP和SP组之间没有差异:社交互动,沟通和限制性/重复性兴趣或行为。这些数据未能发现MP和SP家庭类型之间的临床异质性。这支持了以前的工作,这些工作表明自闭症特征不能用作索引遗传异质性的工具。因此,尽管SP和MP先证者可能有不同的潜在病因机制,但没有与MP家族和SP家族的先证者相关的独特行为模式。这些结果表明,遗传因素和/或环境因素可能是所有AD的基础。

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