Tuchman Roberto, Moshé Solomon L, Rapin Isabelle
Department of Neurology, University of Miami, Miami Children's Hospital, Dan Marino Center, 2900 South Commerce Parkway, Weston, FL, USA.
Brain Dev. 2009 Feb;31(2):95-103. doi: 10.1016/j.braindev.2008.09.009. Epub 2008 Nov 8.
The autisms and epilepsies are heterogeneous disorders that have diverse etiologies and pathologies. The severity of impairment and of symptoms associated with autism or with particular epilepsy syndromes reflects focal or global, structurally abnormal or dysfunctional neuronal networks. The complex relationship between autism and epilepsy, as reflected in the autism-epilepsy phenotype, provides a bridge to further knowledge of shared neuronal networks that can account for both the autisms and the epilepsies. Although epilepsy is not a causal factor for autism, increased understanding of common genetic and molecular biological mechanisms of the autism-epilepsy phenotype has provided insight into the pathophysiology of the autisms. The autism-epilepsy phenotype provides a novel model to the study of interventions that may have a positive modulating effects on social cognitive outcome.
自闭症和癫痫是具有多种病因和病理的异质性疾病。与自闭症或特定癫痫综合征相关的损伤和症状的严重程度反映了局灶性或整体性、结构异常或功能失调的神经网络。自闭症-癫痫表型所反映的自闭症与癫痫之间的复杂关系,为进一步了解可解释自闭症和癫痫的共享神经网络提供了桥梁。虽然癫痫不是自闭症的致病因素,但对自闭症-癫痫表型的共同遗传和分子生物学机制的深入了解,为自闭症的病理生理学提供了见解。自闭症-癫痫表型为研究可能对社会认知结果产生积极调节作用的干预措施提供了一个新模型。