Vierck Esther, Silverman Jeremy M
Department of Psychological Medicine, University of Otago, BO Box 4345, Christchurch, 8140, New Zealand,
J Autism Dev Disord. 2015 Jun;45(6):1915-24. doi: 10.1007/s10803-014-2346-9.
Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic differences. To test this possibility we measured IQ, adaptive behavior, and autistic symptoms in 830 probands from simplex families. We conducted multiple linear regression analysis to estimate the predictive value of paternal age, maternal age, and gender on behavioral measures and IQ. We found a differential effect of parental age and sex on repetitive and restricted behaviors. Findings suggest effects of paternal age on phenotypic differences in simplex families with ASD.
自闭症谱系障碍已提出两种遗传模式,即通过预先存在的变异进行传递和新发突变。不同的模式可能导致受影响个体出现不同的症状表现。随着父亲年龄的增长,新发突变的可能性增加,这表明父亲年龄可能预示着表型差异。为了验证这种可能性,我们对来自单纯家庭的830名先证者进行了智商、适应性行为和自闭症症状的测量。我们进行了多元线性回归分析,以估计父亲年龄、母亲年龄和性别对行为指标和智商的预测价值。我们发现父母年龄和性别对重复和受限行为有不同的影响。研究结果表明父亲年龄对患有自闭症谱系障碍的单纯家庭中的表型差异有影响。