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结核性硬化复合相关自闭症是一种可预防和可治疗的疾病吗?
Paolo Curatolo1, Mirte Scheper2, Leonardo Emberti Gialloreti3
1Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Rome, Italy.
World journal of pediatrics : WJP
|October 25, 2023
概括
结核性硬化综合体 (TSC) 的早期诊断允许识别患有自闭症谱系障碍 (ASD) 高风险的婴儿. 针对和ASD症状的快速,量身定制的治疗可以减轻TSC患者的发育迟缓.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 结核性硬化综合体 (TSC) 是一种由TSC1/TSC2基因突变引起的遗传疾病.
- 这些突变导致mTOR通路过度激活,影响大脑发育.
- TSC与,智力障碍和自闭症谱系障碍 (ASD) 有关.
研究的目的:
- 审查关于TSC,自闭症和潜在治疗方法的临床前研究.
- 确定用于早期诊断和TSC婴儿风险分层的生物标志物.
- 探索治疗策略,以减轻TSC相关的神经发育结果.
主要方法:
- 在PubMed中搜索同行评审的文章 (2010-2023年).
- 关键词包括"结核性硬化症"",自闭症谱系障碍"",动物模型"",临床前研究"",神经生物学"和"治疗".
- 对TSC婴儿发育前性研究的分析.
主要成果:
- 运动,视觉和社交沟通技能的发展延迟在发展ASD的TSC婴儿生命的第一年是显而易见的.
- 生物标志物 (遗传,细胞,EEG,MRI) 可以识别患有ASD和的高风险的前症状TSC婴儿.
- 在没有症状的婴儿中,TSC的早期诊断越来越有可能.
结论:
- 对TSC婴儿的早期干预至关重要.
- 在敏感的发育窗口期间预防或治疗和定制自闭症疗法可能会减少ASD症状.
- 生物标志物识别使TSC中神经发育挑战的积极管理成为可能.
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