Department of Neurology, Xuzhou Children's Hospital, Xuzhou, China.
Eur Rev Med Pharmacol Sci. 2017 Oct;21(4 Suppl):65-69.
The assorted circumstances characterized by malfunctioning in cognition, communication or motor skills lead to abnormal development of the central nervous system (CNS) in young infants. These conditions are collectively termed as neurodevelopmental disorders (NDDs) and are usually diagnosed during childhood or infancy. NDDs occur as frequent as 1-3% in the general population and their diagnostic yield is approximately 15-25% with existing available techniques. So, the majority of affected patients are still undiagnosed due to genetic and phenotypic heterogeneity despite the discovery of 450 genes associated with NDDs. Chromosomal rearrangements are known contributors to NDDs, which have been routinely detected by G-banding karyotyping and fluorescence in situ hybridization at extremely low resolution. The present review was focused on the recent perspectives in the diagnosis and management of these neuropathological states in young patients.
各种认知、交流或运动技能障碍的情况导致婴幼儿中枢神经系统(CNS)发育异常。这些情况统称为神经发育障碍(NDD),通常在儿童期或婴儿期诊断。NDD 在普通人群中的发病率为 1-3%,现有技术的诊断率约为 15-25%。因此,尽管已经发现了 450 个与 NDD 相关的基因,但由于遗传和表型异质性,大多数受影响的患者仍然未被诊断。染色体重排是 NDD 的已知原因,通过 G 带核型分析和极低分辨率的荧光原位杂交可常规检测到这些重排。本综述重点介绍了目前在年轻患者中这些神经病理状态的诊断和治疗的最新观点。