Abstract

The behavioral phenotypes emerge from cognitive architecture comprising attention, executive functions, and primary communication skills that all have shown remarkable deficits in Down’s Syndrome (DS). These states arise from the proper functional interactions of the contributing neurotransmission and neuromodulation systems and other coding platforms. Gamma-aminobutyric acid (GABA) is an integral part of the neural interaction and regulation networks that its reverse action leads to broad detrimental consequences. This inhibitory substance needs an appropriate balance of co-transporters that largely shape the ionic milieu. Bumetanide, a specific NKCC1 inhibitor used for an eighteen-month interval, showed promising effects in restoring some behavior deficits in a fourteen-year-old boy diagnosed with genetically confirmed mosaic Down’s Syndrome.

摘要

行为表型来自认知结构，包括注意力、执行功能和主要沟通技巧，这些都在唐氏综合症 (DS) 中表现出显着缺陷。这些状态源于贡献的神经传递和神经调节系统以及其他编码平台的适当功能相互作用。γ-氨基丁酸 (GABA) 是神经相互作用和调节网络的组成部分，其反向作用会导致广泛的有害后果。这种抑制物质需要在很大程度上塑造离子环境的协同转运蛋白的适当平衡。布美他尼是一种特定的 NKCC1 抑制剂，使用 18 个月的时间间隔，在恢复一名被诊断患有基因确诊的马赛克唐氏综合症的 14 岁男孩的一些行为缺陷方面显示出可喜的效果。