Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands
Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands
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DOI：
10.5582/irdr.2015.01029
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发表时间：
2015-08-01
影响因子：
1.3
通讯作者：
Hessl, David
中科院分区：
文献类型：
--
作者：
Cordeiro, Lisa;Abucayan, Floridette;Hessl, David
脆性X综合征（FXS）（FMR 1完全突变，> 200 CGG重复）患者中有很高比例的人会经历临床显著的焦虑。最近的证据表明，成人脆性X前突变携带者（55-200 CGG重复）也有患焦虑症的风险，他们证明了由FMRP和/或FMR 1 mRNA升高介导的边缘系统改变，这可能解释了这种高风险。然而，很少有人知道的精神症状，包括焦虑的儿童和青少年与前突变。我们完成了基于DSM-IV的结构化诊断访谈，重点关注35名儿童、青少年或年轻人（年龄5-23岁，M = 11.3 +/- 4.3; 27名男性; 20名先证者和15名非先证者）和31名对照（年龄5-18岁，M = 9.9 +/- 3.6; 22名男性）的当前焦虑。在前突变携带者中，70.6%的人符合至少一种焦虑症（最常见的是广泛性焦虑症、特定恐惧症、社交恐惧症或强迫症）的标准，而在该年龄范围内，对照组和一般人群的比例分别为22.6%和9.8%。前突变携带者伴智力残疾、男性和先证者状态与焦虑障碍的发病率最高相关。然而，与一般人群标准相比，非先证者确实有更高的焦虑症发病率（40.0%）。虽然结果暗示焦虑作为筛查和干预的目标与前突变的青年，需要更大的研究，从人口的前突变携带者，以确认和指定的程度和范围的精神障碍，在这种情况下的mosaic样本。
A very high proportion of individuals with fragile X syndrome (FXS) (FMR1 full mutation, > 200 CGG repeats) experience clinically significant anxiety. Recent evidence suggests that adult fragile X premutation carriers (55-200 CGG repeats) also are at risk for anxiety disorders, and they demonstrate limbic system alterations mediated by FMRP and/or elevated FMR1 mRNA that may explain this heightened risk. However, less is known about psychiatric symptoms including anxiety among children and adolescents with the premutation. We completed structured DSM-IV based diagnostic interviews focused on current anxiety in 35 children, adolescents or young adults with the premutation (ages 5-23 years, M = 11.3 +/- 4.3; 27 male; 20 probands and 15 non-probands) and 31 controls (ages 5-18 years, M = 9.9 +/- 3.6; 22 males). Among premutation carriers, 70.6% met criteria for at least one anxiety disorder (most frequently generalized anxiety disorder, specific phobia, social phobia, or obsessive compulsive disorder), compared to 22.6% of controls and 9.8% of the general population in this age range. Premutation carriers with intellectual disability, male gender, and proband status were associated with the highest rates of anxiety disorders. However, non-probands did have higher rates of having any anxiety disorder (40.0%) compared to general population norms. Although the results implicate anxiety as a target of screening and intervention among youth with the premutation, larger studies of unselected samples from the population of premutation carriers are needed to confirm and specify the degree and extent of psychiatric disorders in this condition.