Decomposing the Autism Phenotype Into Familial Dimensions
Decomposing the Autism Phenotype Into Familial Dimensions
复制标题
DOI：
10.1002/ajmg.b.30561
复制
发表时间：
2008-01-05
影响因子：
2.8
通讯作者：
Palmour, Roberta
中科院分区：
文献类型：
--
作者：
Szatmari, Peter;Merette, Chantal;Palmour, Roberta
本文的目的是分解自闭症的功能表型水平，看看它是否可以被概念化为两个简单的，但仍然是家族性的，语言和非语言智商的维度表型。我们收集了80对患有自闭症、普格综合征或非典型自闭症的同胞。为了了解语言得分的家族相关性是否由非语言智商的家族相关性来解释，使用他们的智商得分作为解释变量或自变量，并控制受影响个体的年龄和性别，基于多元回归方程计算同胞对中每个成员的剩余语言得分。然后使用这些剩余分数计算受影响同胞之间的组内相关性。这个过程是重复使用智商作为因变量和语言作为协变量。在受影响的个体中，非语言智商（由Leiter表现量表测量）和语言（由Vineland沟通量表测量）之间有很强的关系。此外，在这两项指标上，兄弟姐妹之间存在家族相关性。即使通过回归分析和广义估计方程排除了协变量的影响，非语言智商和语言的家庭聚集性证据仍然存在。这些发现表明，非言语智商和语言的PDD可能是由独立的遗传机制。这一发现的连锁分析和识别遗传信息表型的影响进行了讨论。(C)2007 Wiley-Liss，Inc.
The objective of this article is to decompose the level of functioning phenotype in autism to see if it can be conceptualized as two simpler, but still familial, dimensional phenotypes of language and non-verbal IQ. We assembled 80 sibpairs with either autism, Asperger syndrome or atypical autism. To see whether the familial correlation on language scores was accounted for by the familial correlation on non-verbal IQ, residual language scores were calculated for each member of the sibpair based on a multiple regression equation using their IQ score as an explanatory or independent variable and controlling for the age and gender of the affected individual. These residual scores were then used to calculate intraclass correlations between affected sibs. This process was repeated using IQ as the dependent variable and language as a covariate. Within affected individuals there was a strong relation between non-verbal IQ (as measured by the Leiter performance scale) and language (as measured by the Vineland Communication Scale). In addition, there was familial correlation between sibs on both measures. Evidence of familial aggregation on both non-verbal IQ and language remained even after partialling out the effect of the covariates by regression analysis and by generalized estimating equation. These findings suggest that non-verbal IQ and language in PDD may arise from independent genetic mechanisms. The implications of this finding for linkage analysis and for identifying genetically informative phenotypes are discussed. (C) 2007 Wiley-Liss, Inc.