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An Updated Review of Tuberous Sclerosis Complex-Associated Autism Spectrum Disorder.
Pediatric Neurology ( IF 3.2 ) Pub Date : 2020-06-18 , DOI: 10.1016/j.pediatrneurol.2020.03.008
Debopam Samanta 1
Affiliation  

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder caused by mutations of either the TSC1 or TSC2 gene. Various neuropsychiatric features, including autism, are prevalent in TSC. Recently, significant progress has been possible with the prospective calculation of the prevalence of autism in TSC, identification of early clinical and neurophysiological biomarkers to predict autism, and investigation of different therapies to prevent autism in this high-risk population. The author provides a narrative review of recent findings related to biomarkers for diagnosis of autism in TSC, as well as recent studies related to the management of TSC-associated autism. Further sophisticated modeling and analysis are required to understand the role of different models—tuber models, seizures and related neurophysiological factors models, genotype models, and brain connectivity models—to unravel the neurobiological basis of autism in TSC. Early neuropsychologic assessments may be beneficial in this high-risk group. Targeted intervention to improve visual skill, cognition, and fine motor skills with later addition of social skill training can be helpful. Multicenter, prospective studies are ongoing to identify if presymptomatic treatment with vigabatrin in patients with TSC can improve outcomes, including autism. Several studies indicated reasonable safety of everolimus in young children, and its potential application in high-risk infants with TSC, before the closure of the temporal window of permanent changes, maybe undertaken shortly.



中文翻译:

结节性硬化症相关自闭症谱系障碍的最新综述。

结节性硬化症(TSC)是由TSC1或TSC2基因突变引起的神经性皮肤疾病。TSC中普遍存在各种神经精神病学特征,包括自闭症。最近,在对TSC中自闭症患病率进行前瞻性计算,识别早期临床和神经生理生物标志物以预测自闭症以及研究在该高风险人群中预防自闭症的不同疗法的研究方面,已经取得了重大进展。作者提供叙述性评论,综述与TSC自闭症诊断中的生物标志物相关的最新发现,以及与TSC相关自闭症管理相关的最新研究。需要进一步的复杂建模和分析,以了解不同模型的作用,例如块茎模型,癫痫发作和相关的神经生理因素模型,基因型模型,和大脑连接模型-揭示TSC中自闭症的神经生物学基础。早期神经心理学评估可能对这一高风险人群有益。进行有针对性的干预,以提高视觉技能,认知能力和精细运动技能,并在以后增加社交技能培训会有所帮助。正在进行多中心,前瞻性研究,以确定在接受TSC治疗的患者中用Vigabatrin对症治疗是否可以改善结局,包括自闭症。几项研究表明,依维莫司在幼儿中的安全性是合理的,其潜在的应用可能是在不久之后永久性改变暂时性窗口关闭之前,将其应用于高危TSC婴儿中。进行有针对性的干预,以提高视觉技能,认知能力和精细运动技能,并在以后增加社交技能培训会有所帮助。正在进行多中心,前瞻性研究,以确认在接受TSC治疗的患者中使用vigabatrin对症治疗是否可以改善结局,包括自闭症。几项研究表明,依维莫司在幼儿中的安全性是合理的,其潜在的应用可能是在不久之后永久性改变暂时性窗口关闭之前,将其应用于高危TSC婴儿中。进行有针对性的干预,以提高视觉技能,认知能力和精细运动技能,并在以后增加社交技能培训会有所帮助。正在进行多中心,前瞻性研究,以确定在接受TSC治疗的患者中用Vigabatrin对症治疗是否可以改善结局,包括自闭症。几项研究表明,依维莫司在幼儿中的安全性是合理的,其潜在的应用可能是在不久之后永久性改变暂时性窗口关闭之前,将其应用于高风险的TSC婴儿中。

更新日期:2020-07-23
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