Down syndrome (DS) is a genetic disease that occurs due to an aneuploidy of human chromosome 21. Trisomy of chromosome 21 is a primary genetic cause of developmental abnormalities leading to cognitive and learning deficits. Impairments in GABAergic transmission, noradrenergic neuronal loss, anomalous glutamatergic transmission and N-methyl-d-aspartate receptor signalling, mitochondrial dysfunction, increased oxidative stress and inflammation, differentially expressed microRNAs, increased expression of crucial chromosome 21 genes, and DNA hyper-methylation and hyperactive homocysteine trans-sulfuration pathway, are common incongruities that have been reported in DS and might contribute to cognitive impairment and intellectual disability. This review provides an update on metabolic and neurobiological alterations in DS. It also provides an overview of the currently available pharmacological therapies that may influence and/or reverse these alterations in DS.

唐氏综合症（DS）是一种由于人类21号染色体的非整倍性而发生的遗传性疾病。21号染色体的三体性是导致认知和学习缺陷的发育异常的主要遗传原因。GABA能传递，去甲肾上腺素能神经元丧失，异常谷氨酸能传递和N-甲基-d受损天冬氨酸受体信号转导，线粒体功能障碍，氧化应激和炎症增加，差异表达的microRNA，关键21号染色体基因的表达增加以及DNA超甲基化和高半胱氨酸转硫途径过度，这是DS中常见的不一致之处，可能导致认知障碍和智力障碍。这篇综述提供了DS中代谢和神经生物学改变的更新。它还概述了可能影响和/或逆转DS中这些改变的当前可用的药理疗法。