关键词: CGG Repeats Executive Function FMR1 Fragile X Syndrome Fragile X-Associated Tremor-Ataxia Syndrome Gender Differences

来  源:   DOI:10.1176/appi.neuropsych.20230215

Abstract:
UNASSIGNED: The purpose of the present study was to assess the psychiatric manifestations of early to middle stages of fragile X-associated tremor-ataxia syndrome (FXTAS) and their relationship with executive function and FMR1 cytosine-guanine-guanine (CGG) repeat numbers across genders.
UNASSIGNED: Cross-sectional data from 100 participants (62 men, 38 women; mean±SD age=67.11±7.90 years) with FXTAS stage 1, 2, or 3 were analyzed, including demographic information, cognitive measures, psychiatric assessments (Symptom Checklist-90-Revised and Behavioral Dyscontrol Scale-II [BDS-II]), and CGG repeat number.
UNASSIGNED: Participants with FXTAS stage 3 exhibited significantly worse psychiatric outcomes compared with participants with either stage 1 or 2, with distinct gender-related differences. Men showed differences in anxiety and hostility between stage 3 and combined stages 1 and 2, whereas women exhibited differences in anxiety, depression, interpersonal sensitivity, obsessive-compulsive symptoms, and somatization, as well as in the Global Severity Index, the Positive Symptom Distress Index, and the Positive Symptom Total. Among male participants, negative correlations were observed between BDS-II total scores and obsessive-compulsive symptoms, as well as between anxiety and CGG repeat number.
UNASSIGNED: These findings suggest that even at early FXTAS stages, patients have significant cognitive and other psychiatric symptoms, with notable gender-specific differences. This study underscores the clinical and prognostic relevance of comorbid psychiatric conditions in FXTAS, highlighting the need for early intervention and targeted support for individuals with relatively mild motor deficits.
摘要:
本研究的目的是评估脆性X相关震颤共济失调综合征(FXTAS)的早期至中期的精神表现及其与执行功能和FMR1胞嘧啶的关系鸟嘌呤(CGG)跨性别重复数。
来自100名参与者的横截面数据(62名男性,38名女性;平均±SD年龄=67.11±7.90岁),对FXTAS1、2或3期进行了分析,包括人口统计信息,认知措施,精神病学评估(症状清单-90修订和行为控制不良量表-II[BDS-II]),和CGG重复号。
与1或2阶段的参与者相比,FXTAS3阶段的参与者表现出明显更差的精神病结局,具有明显的性别相关差异。男性在第3阶段和第1阶段和第2阶段的焦虑和敌意方面表现出差异,而女性在焦虑方面表现出差异,抑郁症,人际关系敏感,强迫症状,和躯体化,以及在全球严重性指数中,积极的症状困扰指数,和总的积极症状。在男性参与者中,BDS-II总分与强迫症状呈负相关,以及焦虑和CGG重复数之间。
这些发现表明,即使在FXTAS早期阶段,患者有明显的认知和其他精神症状,具有明显的性别差异。这项研究强调了FXTAS合并症精神病的临床和预后相关性,强调需要早期干预和有针对性的支持个人有相对轻度的运动缺陷。
公众号