Talisa Victor B, Boyle Lia, Crafa Daina, Kaufmann Walter E
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Am J Med Genet A. 2014 May;164A(5):1198-203. doi: 10.1002/ajmg.a.36468. Epub 2014 Mar 24.
Although it is suspected that anxiety modifies the clinical presentation of autism in fragile X syndrome (FXS), neuropsychiatric co-morbidity profiles of these two disorders have not been extensively studied. The National Fragile X Survey was completed for 1,027 males with FXS, for whom yes/no information regarding the presence of several disorders is provided. Although the survey exhibited limited depth and lacked validation by standardized measures, this exploratory study was conducted to take advantage of the data as an opportunity for identifying future lines of inquiry. We addressed the following questions: (i) how do the co-morbidity profiles of FXS males with both autism and anxiety compare to those without anxiety?; (ii) do individuals with autism exhibit specific co-morbidity profiles compared to FXS males with anxiety only, or without either autism or anxiety?; (iii) how do co-morbidity profiles in children ages 3-11 differ from profiles of individuals >12 years? The group with autism and anxiety reported the highest prevalence of attention problems, hyperactivity/impulsivity, self-injurious behavior and aggressiveness. In addition, the lowest prevalence rates of these conditions were often observed in non-anxious groups regardless of autism status. Overall, this exploratory analysis generated several hypotheses for further study: (i) anxiety increases the severity of autism in FXS, particularly through additional behavioral abnormalities; (ii) some neuropsychiatric and behavioral conditions (i.e., attention problems, hyperactivity/impulsivity, aggressiveness) are primarily related to comorbid anxiety, not autism; (iii) prevalence of behavioral abnormalities increases with age. Future studies evaluating these hypotheses should incorporate validated neurobehavioral assessments, and control for cognitive level.
尽管有人怀疑焦虑会改变脆性X综合征（FXS）中自闭症的临床表现，但这两种疾病的神经精神共病情况尚未得到广泛研究。对1027名患有FXS的男性完成了全国脆性X调查，提供了关于几种疾病存在与否的是/否信息。尽管该调查的深度有限且缺乏标准化测量的验证，但进行这项探索性研究是为了利用这些数据，作为确定未来研究方向的契机。我们解决了以下问题：（i）患有自闭症和焦虑症的FXS男性的共病情况与没有焦虑症的男性相比如何？（ii）与仅患有焦虑症或既没有自闭症也没有焦虑症的FXS男性相比，患有自闭症的个体是否表现出特定的共病情况？（iii）3至11岁儿童的共病情况与12岁以上个体的情况有何不同？患有自闭症和焦虑症的组报告的注意力问题、多动/冲动、自伤行为和攻击性的患病率最高。此外，无论自闭症状态如何，在非焦虑组中这些情况的患病率通常最低。总体而言，这项探索性分析产生了几个有待进一步研究的假设：（i）焦虑会增加FXS中自闭症的严重程度，特别是通过额外的行为异常；（ii）一些神经精神和行为状况（即注意力问题、多动/冲动、攻击性）主要与共病焦虑有关，而非自闭症；（iii）行为异常的患病率随年龄增长而增加。未来评估这些假设的研究应纳入经过验证的神经行为评估，并控制认知水平。
