脆弱X综合征患者的适应性,行为和认知结果,自闭症严重程度不同
Ramkumar Aishworiya1,2,3, Ye Eun Tak4, Matthew Dominic Ponzini1,5
1Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.
概括
在脆弱X综合征 (FXS) 中,自闭症症状的严重程度与较差的认知和适应能力有关. 在FXS患者中,CYFIP1mRNA水平可能作为自闭症严重程度的生物标志物.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 发展心理学 发展心理学
背景情况:
- 脆弱X综合征 (FXS) 是智力障碍和自闭症谱系障碍 (ASD) 的主要遗传原因.
- 了解ASD严重程度和FXS中的生物/行为标志物之间的关系对于有针对性的干预至关重要.
研究的目的:
- 调查自闭症谱系障碍 (ASD) 严重程度与脆弱X综合征 (FXS) 患者的认知,行为和分子测量之间的关联.
- 在FXS群体中确定ASD严重程度的潜在生物标志物.
主要方法:
- 该研究包括54名患有FXS的人 (6-40岁,智商<84,语言≥3个单词的短语).
- 使用自闭症诊断观察表-2 (ADOS-2) 评估ASD症状严重程度.
- 使用ANOVA和斯皮尔曼的相关性分析了认知 (非语言智商),适应能力,行为测量和分子标记 (FMR1,CYFIP1 mRNA,FMRP,MMP9).
主要成果:
- 与没有/轻度ASD (N=7) (p=0.0366) 的人相比,患有严重ASD (N=29) 的个人表现出明显较低的适应性行为得分.
- 较高的ASD严重程度与增加的具有挑战性的行为,惰和刻板印象的行为有关.
- 与其他分子标记不同的是,CYFIP1 mRNA表达水平与ADOS-2比较得分 (r2 = 0.33,p=0.0349) 呈现出正相关性.
结论:
- 在FXS中,自闭症症状的严重程度与认知和适应功能更显著的缺陷有关,以及特定的行为挑战.
- CYFIP1 mRNA表达可能代表一个潜在的生物标志物来量化ASD严重程度在脆弱X综合征的个体.
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