在成人和患有结核性硬化综合体的青少年中,缺乏认可的神经认知缺陷
Mélissa Boisclair1, Laury-Anne Blondeau1, Florence Bouchard1,2
1Department of Neurosciences, Université de Montréal, Montreal, Québec, Canada.
Journal of medical genetics
|January 20, 2025
概括
客观认知测试可以有效地识别结核性硬化综合体 (TSC) 中未被识别的神经认知缺陷. 这些缺陷往往被患者报告的结核性硬化症相关神经精神疾病 (TAND) 检查清单遗漏,突出了客观评估的必要性.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学是一种遗传学.
- 临床心理学 临床心理学
背景情况:
- 结核性硬化综合体 (TSC) 是一种导致良性瘤生长的遗传性疾病.
- 结核硬化相关神经精神疾病 (TAND) 检查清单评估了患者报告的神经认知缺陷.
- 轻度认知障碍可能未被患者认识到.
研究的目的:
- 在TSC患者中确定异常认知测试得分的频率.
- 调查客观认知测试与TAND检查表症状之间的关联.
- 评估客观测试与TAND检查清单在识别神经认知缺陷方面的有用性.
主要方法:
- 一项涉及46名TSC个体的横截面研究.
- 参与者完成了TAND检查表和三个认知测试:SDMT,MoCA和Trail Making测试.
- 用皮尔森的相关性和ROC曲线分析来评估关联和选准确性.
主要成果:
- 在认知测试成绩和TAND检查清单之间发现了最小的相关性.
- 超过20%的TSC参与者在TAND检查清单上没有报告认知问题,但在客观测试中表现异常.
- 对于神经认知障碍,SDMT显示了比TAND检查清单 (AUC=0.70) 的更高的查准确性 (AUC=0.93).
结论:
- 客观认知测试对于检测TSC中未被识别的神经认知缺陷是有价值的.
- 未被诊断的智力障碍和慢性可能是导致这些缺陷的因素.
- 客观评估对于在TSC患者中进行全面的神经认知评估至关重要.
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