Zwaigenbaum Lonnie, Szatmari Peter, Jones Marshall B, Bryson Susan E, MacLean Joanna E, Mahoney William J, Bartolucci Giampiero, Tuff Lawrence
Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.
J Am Acad Child Adolesc Psychiatry. 2002 May;41(5):572-9. doi: 10.1097/00004583-200205000-00015.
To understand better the relationship between pregnancy and birth complications and genetic factors in autism.
The sample included 78 children with an autism spectrum disorder and 88 unaffected siblings. A standardized interview was used to ask mothers about the pregnancy and birth of each child, and an overall index reflecting freedom from complications (termed "optimality") was determined. The presence of autism-like traits (termed the "broader autism phenotype") in second- and third-degree relatives was ascertained by reports from multiple informants. The pro-. portion of relatives with the broader autism phenotype, corrected for degree of relation, was used as an index of family loading.
Children with autism spectrum disorders have lower optimality (higher rates of complications) than unaffected siblings. High family loading for the broader autism phenotype is associated with higher rates of complications in unaffected siblings. Family loading was not significantly associated with complications in affected siblings in this sample. Overall, these findings argue against complications being a direct cause of autism, as one would expect to find the most complications in sporadic cases (i.e., in children without a positive family history).
Increased rates of birth and pregnancy complications are likely secondary to familial factors associated with autism.
更深入地了解自闭症中妊娠和分娩并发症与遗传因素之间的关系。
样本包括78名患有自闭症谱系障碍的儿童和88名未受影响的兄弟姐妹。采用标准化访谈询问母亲每个孩子的妊娠和分娩情况，并确定一个反映无并发症情况的总体指标（称为“最优性”）。通过多名 informant 的报告确定二级和三级亲属中自闭症样特征（称为“更广泛的自闭症表型”）的存在。将具有更广泛自闭症表型的亲属比例（根据亲属关系程度校正）用作家族负荷指标。
自闭症谱系障碍儿童的最优性较低（并发症发生率较高），相比未受影响的兄弟姐妹。更广泛自闭症表型的高家族负荷与未受影响兄弟姐妹中较高的并发症发生率相关。在该样本中，家族负荷与受影响兄弟姐妹的并发症无显著关联。总体而言，这些发现反对并发症是自闭症的直接原因，因为人们预计在散发病例（即没有阳性家族史的儿童）中会发现最多的并发症。
出生和妊娠并发症发生率增加可能继发于与自闭症相关的家族因素。
