Molecular diagnostics of pediatric neurodevelopmental disorders in children

Abstract

Neurodevelopmental disorders (NDD) is a spectrum of disorders characterized with impaired development of the neuropsychological system and/or functional insufficiency in children. The etiology of NDD is still secure though genetic defects are known to be closely associated with development and prognosis of NDD. Recently, the diagnostic yield of NDD is significantly enhanced along with the application of high-throughput genomic analysis including chromosomal microarray analysis (CMA), target sequencing, and whole exome sequencing (WES) in clinical practice. In view of the high genetic heterogeneity and significant expression variability of NDD, it′s preferred to perform an integrated genetic analysis with multiple molecular diagnostic platforms in a standard workflow for patients with NDD. What′s more, an expert consensus and/or technological guideline for molecular diagnostics of NDD generated from large-scale multi-center studies on cohorts of Chinese patients with NDD is crucial for improvement of healthcare for patients with NDD in China. (Chin J Lab Med, 2018, 41: 81-84) Key words: Neurodevelopmental disorders; Molecular diagnostic techniques; Microarray analysis; Exome