Szatmari P, Jones M B, Holden J, Bryson S, Mahoney W, Tuff L, MacLean J, White B, Bartolucci G, Schutz C, Robinson P, Hoult L
Department of Psychiatry, McMaster University, Hamilton, Ontario, Canada.
Am J Med Genet. 1996 Jul 26;67(4):354-60. doi: 10.1002/(SICI)1096-8628(19960726)67:4<354::AID-AJMG7>3.0.CO;2-M.
The objective of this study was to examine familial factors influencing clinical variation in sibships that contained at least 2 children affected with autism or another form of pervasive developmental disorder (PDD). The sample included a total of 60 families, 23 with multiple cases of PDD and 37 with a single affected child. Measurements of IQ, adaptive behaviors in socialization and communication, and autistic symptoms were taken on all affected children. A high intraclass correlation, especially on IQ and an index of social behaviors, was observed between affected children from the same family. In contrast, low correlations were observed on measurements of IQ and adaptive behavior between affected and unaffected children from the same family. These data indicate that variation in severity of PDD is influenced by familial, and probably genetic, mechanisms. The results are discussed in relation to current theories on the genetics of autism and the heritable mechanisms underlying variations in clinical severity.
本研究的目的是检验影响同胞关系中临床差异的家族因素，这些同胞关系中至少有2名儿童患有自闭症或其他形式的广泛性发育障碍（PDD）。样本总共包括60个家庭，其中23个家庭有多名PDD患儿，37个家庭有1名患病儿童。对所有患病儿童进行了智商、社交和沟通方面的适应性行为以及自闭症症状的测量。在来自同一家庭的患病儿童之间观察到了较高的组内相关性，尤其是在智商和社交行为指数方面。相比之下，来自同一家庭的患病儿童与未患病儿童在智商和适应性行为测量方面的相关性较低。这些数据表明，PDD严重程度的差异受家族机制影响，可能也受遗传机制影响。结合当前关于自闭症遗传学的理论以及临床严重程度差异背后的遗传机制对结果进行了讨论。
