基因二代测序技术在儿童不明原因神经发育障碍疾病中的应用

Application of next-generation sequencing in children with unexplained neurodevelopmental disorders

神经发育障碍是影响语言、运动、智力及社会适应性等多方面的疾病,经过适当的早期干预,部分患儿可以恢复到与正常儿童相同或相近的水平,因此正确的早期识别和干预十分重要。目前基因技术应用广泛,尤其是二代测序技术高通量、低成本、测序快的特点,使得其在辅助诊断不明原因神经发育障碍患儿方面取得了巨大的进步,从而可以通过基因诊断了解患儿预后及对患儿父母进行遗传咨询,有利于降低其发病率及进行早期干预。

Neurodevelopmental disorders are diseases affecting language, sports,intelligence and social adaptability, and through appropriate early intervention, part of the affected children can recover to the same or similar level as normal children, so it is of vital importance to provide accurate early identification and comprehensive intervention for the affected children. Now the gene technology is applied widely, espe cially the nextgeneration sequencing is characterized by high throughput, low cost and fast sequencing, which has made great progress in assisting the diagnosis of children with unexplained neurodevelopmental disorders. Therefore, genetic diagnosis can be used to understand the prognosis of children and to provide ge netic counseling for their parents, which is conductive to reducing their incidence and early intervention.