Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France.
Nat Med. 2013 Jun;19(6):685-94. doi: 10.1038/nm.3193. Epub 2013 Jun 6.
Autism spectrum disorder (ASD) encompasses a range of disorders that are characterized by social and communication deficits and repetitive behaviors. For the majority of affected individuals, the cause of ASD remains unknown, but in at least 20% of the cases, a genetic cause can be identified. There is currently no cure for ASD; however, results from mouse models indicate that some forms of the disorder could be alleviated even at the adult stage. Genes involved in ASD seem to converge on common pathways altering synaptic homeostasis. We propose, given the clinical heterogeneity of ASD, that specific 'synaptic clinical trials' should be designed and launched with the aim of establishing whether phenotype 'reversals' could also occur in humans.
自闭症谱系障碍（ASD）包括一系列以社交和沟通障碍以及重复行为为特征的疾病。对于大多数受影响的个体，自闭症的原因仍然未知，但至少有 20%的病例可以确定其遗传原因。目前，自闭症没有治愈方法；然而，来自小鼠模型的结果表明，即使在成年阶段，某些形式的自闭症也可能得到缓解。与自闭症相关的基因似乎集中在改变突触稳态的共同途径上。鉴于自闭症的临床异质性，我们提出，应该设计和开展特定的“突触临床试验”，目的是确定表型“逆转”是否也可能发生在人类身上。
