Curatolo Paolo, Napolioni Valerio, Moavero Romina
Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University, Rome, Italy.
J Child Neurol. 2010 Jul;25(7):873-80. doi: 10.1177/0883073810361789. Epub 2010 Mar 5.
Autism spectrum disorders have been reported as being much more frequent in individuals with tuberous sclerosis than in the general population. Previous studies have implicated early seizure onset and the localization of cortical tubers in the temporal lobes as risk factors for autism. However, the underlying reasons for this association remain largely unclear. The dysregulation of intracellular signaling through the activation of mTOR pathway could play a direct role in determining susceptibility to autism. Early control of seizures and an early intensive behavioral intervention of autism during the period of brain plasticity can mitigate, but not reverse the final outcome. A greater understanding of the pathogenetic mechanisms underlying autism in tuberous sclerosis could help in devising targeted and potentially more effective treatment strategies.
据报道，结节性硬化症患者患自闭症谱系障碍的频率远高于普通人群。先前的研究表明，早期癫痫发作以及颞叶皮质结节的定位是自闭症的危险因素。然而，这种关联的潜在原因在很大程度上仍不清楚。通过激活mTOR通路导致的细胞内信号失调可能在决定自闭症易感性方面起直接作用。在大脑可塑性期间早期控制癫痫发作以及对自闭症进行早期强化行为干预可以减轻但不能逆转最终结果。更深入了解结节性硬化症中自闭症的发病机制有助于制定有针对性的、可能更有效的治疗策略。
