Szatmari P, Jones M B, Fisman S, Tuff L, Bartolucci G, Mahoney W J, Bryson S E
Department of Psychiatry, McMaster University, Hamilton, Ontario, Canada.
Am J Med Genet. 1995 Aug 14;60(4):282-9. doi: 10.1002/ajmg.1320600405.
The objective of this study was to see whether, using the family history method, the risk for pervasive developmental disorder (PDD), cognitive impairments, and other psychiatric symptoms is greater in the parents and collateral relatives of probands with PDD compared to a control group. A semistructured family history interview was carried out with the parents of 52 probands with PDD and 33 parents of controls. Rates of cognitive impairments and psychiatric problems were not found more frequently in parents or relatives of PDD probands compared to relatives of controls, but four cases of PDD were reported among the extended families of the PDD probands. The relatives with PDD were related to the probands through the maternal line, possibly suggesting some form of maternal influence on inheritance or reduced penetrance in females with the PDD genotype.
本研究的目的是探讨,采用家族史方法,与对照组相比,广泛性发育障碍(PDD)先证者的父母及旁系亲属患PDD、认知障碍和其他精神症状的风险是否更高。对52名PDD先证者的父母和33名对照者的父母进行了半结构化家族史访谈。与对照组亲属相比,未发现PDD先证者的父母或亲属中认知障碍和精神问题的发生率更高,但在PDD先证者的大家庭中报告了4例PDD病例。患有PDD的亲属通过母系与先证者相关,这可能表明某种形式的母体对遗传的影响或PDD基因型女性的外显率降低。