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未育有受脆性X综合征影响子女的脆性X前突变女性的精神障碍。

Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.

作者信息

Gossett Amy, Sansone Stephanie, Schneider Andrea, Johnston Cindy, Hagerman Randi, Tassone Flora, Rivera Susan M, Seritan Andreea L, Hessl David

机构信息

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Medical Center, Sacramento, California.

Department of Psychology, California School of Professional Psychology, Alliant International University, Sacramento, California.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1139-1147. doi: 10.1002/ajmg.b.32496. Epub 2016 Sep 12.

Abstract

Several studies have demonstrated increased rates of anxiety and depressive disorders among female carriers of the fragile X premutation. However, the majority of these studies focused on mothers of children with fragile X syndrome, who experience higher rates of parenting stress that may contribute to the emergence of these disorders. The present study compared psychiatric symptom presentation (utilizing measures of current symptoms and lifetime DSM-IV Axis I disorders) in 24 female carriers without affected children (mean age = 32.1 years) to 26 non-carrier women from the community (mean age = 30.5 years). We also examined the association between CGG repeat size (adjusted for X activation ratio) and mRNA, with severity of psychiatric symptoms. Women with the premutation reported significantly elevated symptoms of anxiety, depression, interpersonal sensitivity, obsessive-compulsiveness, and somatization relative to controls during the past week. Carriers had significantly higher rates of lifetime social phobia (42.3%) compared to controls (12.5%); however, this comparison did not remain significant after multiple comparison adjustment. Rates of other psychiatric disorders were not significantly elevated relative to controls, though it should be noted that lifetime rates among controls were much higher than previously published population estimates. Although the sample is relatively small, the study of this unique cohort suggests the premutation confers risk for mood and anxiety disorders independent of the stress of parenting children with FXS. Screening for psychiatric disorders in women with the premutation, even before they become parents, is important and highly encouraged. © 2016 Wiley Periodicals, Inc.

摘要

多项研究表明,脆性X前突变女性携带者中焦虑症和抑郁症的发病率有所上升。然而,这些研究大多集中在脆性X综合征患儿的母亲身上,她们承受着更高的育儿压力,这可能导致这些疾病的出现。本研究比较了24名无患病子女的女性携带者(平均年龄 = 32.1岁)和26名来自社区的非携带者女性(平均年龄 = 30.5岁)的精神症状表现(采用当前症状和终生DSM-IV轴I障碍的测量方法)。我们还研究了CGG重复序列大小(根据X激活率调整)和mRNA与精神症状严重程度之间的关联。与对照组相比,前突变女性在过去一周内报告的焦虑、抑郁、人际敏感性、强迫观念和躯体化症状显著升高。与对照组(12.5%)相比,携带者终生社交恐惧症的发病率显著更高(42.3%);然而,在进行多重比较调整后,这种差异不再显著。相对于对照组,其他精神疾病的发病率没有显著升高,不过需要注意的是,对照组的终生发病率远高于此前公布的人群估计值。尽管样本相对较小,但对这一独特队列的研究表明,前突变会增加患情绪和焦虑症的风险,而与抚养脆性X综合征患儿的压力无关。即使在有前突变的女性成为母亲之前,对她们进行精神疾病筛查也是重要且非常必要的。© 2016威利期刊公司

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