Hartley Sigan L, Seltzer Marsha Mailick, Hong Jinkuk, Greenberg Jan S, Smith Leann, Almeida David, Coe Chris, Abbeduto Leonard
University of Wisconsin-Madison, USA.
Int J Behav Dev. 2012 Jan;36(1):53-61. doi: 10.1177/0165025411406857.
Mothers of adolescents and adults with fragile X syndrome (FXS) are faced with high levels of parenting stress. The extent to which mothers are negatively impacted by this stress, however, may be influenced by their own genetic status. The present study uses a diathesis-stress model to examine the ways in which a genetic vulnerability in mothers with the premutation of the FMR1 gene interacts with child-related environmental stress to predict their morning cortisol levels. Seventy-six mothers of an adolescent or adult with FXS participated in an 8-day telephone diary study in which they reported on the behavior problems of their son or daughter with FXS each day. We analyzed salivary cortisol collected from mothers at awakening and 30 minutes after awakening on 4 of these days. The results indicated that mothers with greater genetic vulnerability had a lower level of cortisol on mornings following days when their son or daughter with FXS manifested more episodes of behavior problems, whereas mothers with less genetic risk evinced the opposite pattern of higher morning cortisol in response to their child's behavior problems. This finding contributes to our understanding of gene-by-environment interactions and highlights the importance of interventions to alleviate parenting stress in mothers raising children with FXS.
患有脆性X综合征（FXS）的青少年及成年人的母亲面临着高水平的育儿压力。然而，母亲受这种压力负面影响的程度可能会受到她们自身基因状况的影响。本研究采用素质-压力模型，来考察携带FMR1基因前突变的母亲的基因易感性与儿童相关环境压力相互作用，从而预测她们早晨皮质醇水平的方式。76名患有FXS的青少年或成年人的母亲参与了一项为期8天的电话日记研究，她们每天报告患有FXS的儿子或女儿的行为问题。我们分析了在这8天中的4天，母亲们醒来时以及醒来30分钟后采集的唾液皮质醇。结果表明，基因易感性较高的母亲，在其患有FXS的儿子或女儿出现更多行为问题发作的次日早晨，皮质醇水平较低；而基因风险较低的母亲则呈现出相反的模式，即面对孩子的行为问题时，早晨皮质醇水平较高。这一发现有助于我们理解基因与环境的相互作用，并突出了干预措施对于减轻抚养患有FXS儿童的母亲的育儿压力的重要性。
