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结核性硬化综合体和自闭症谱系障碍的临床界面:见解和未来的方向

Reet Ramani¹, Barika Fatima¹, Abuzar Hussain¹

¹Ziauddin Medical College, Ziauddin University, 4/B Shahrah-e-Ghalib Rd, Block 6 Clifton, Karachi, Karachi City, 75000, Sindh, Pakistan.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

|February 25, 2025

概括

早期诊断和个性化治疗对于结核性硬化综合体 (TSC) 和自闭症谱系障碍 (ASD) 的同时发生至关重要. 多学科方法改善了TSC和ASD患者的护理.

科学领域:

遗传学和神经学遗传学和神经学
发育障碍发育障碍发展障碍

背景情况:

结核性硬化综合体 (TSC) 是一种遗传性疾病,导致多个器官的瘤,与TSC1/TSC2基因突变有关.
TSC的表现包括发作,发育迟缓和皮肤问题.
由于共享的症状,TSC和自闭症谱系障碍 (ASD) 的同时出现会带来诊断和治疗方面的挑战.

研究的目的:

突出提前诊断对TSC患者具有同时发生的ASD的重要性.
强调对这一群体需要个性化治疗计划的需要.
审查TSC和ASD的诊断和治疗策略.

主要方法:

通过行为和发育测试评估ASD症状.
神经成像 (fMRI,PET) 可以识别大脑的异常.
分子遗传分析检测TSC1/TSC2突变;差异诊断包括病史和体检.

主要成果:

高达50%的TSC患者符合ASD标准,患病率估计在17-63%之间.
婴儿和早期发作的在患有ASD的TSC患者中很常见.
像发作和智力障碍这样的共同症状使诊断复杂化.

结论:

多学科方法对于诊断和治疗同时发生的TSC和ASD至关重要.
个性化计划可能包括行为疗法,Everolimus (mTOR抑制剂) 和高级神经影像.
生物标志物,分子医学和诊断协议的未来研究是有希望的.

关键词:

自闭症谱系障碍自闭症谱系障碍这是TSC1/TSC2.结核性硬化综合体结核性硬化综合体结核性硬化症复杂相关的神经精神疾病.

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