Recent perspectives of pediatric neurodevelopmental disorders

D.-L. Zhang, S.-Z. Chen, X.-M. Liu

Department of Neurology, Xuzhou Children’s Hospital, Xuzhou, China. minglx@yeah.net

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• Pediatrics

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.

Published on: 2017/10/25

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