Abstract:

Attention deficit hyperactivity disorder（ADHD），autism spectrum disorder （ASD） and mental retardation（MR） are the most common diseases in pediatric developmental clinic.The etiologies，which include biomedical factors and social psychological and cultural factors，are complex.Biomedical factors include genetic factors，etc.With the rapid development of genetic technology in recent years，more and more diseases of developmental disorders have been discovered. These technologies include karyotype analysis，screening for inherited metabolic diseases，first generation of gene sequencing technology，newly developed second generation sequencing technology，multiplex ligation-dependent probe amplification （MLPA） technology and microarray array-based Comparative Genomic Hybridization （aCGH）. The second generation of gene sequencing technology includes whole genome sequencing，whole exon sequencing （WES） and disease targeting sequence （DTS）. According to the clinical characteristics，corresponding techniques can be chosen by doctors to find the etiology.

Key words: attention deficit hyperactivity disorder（ADHD）, autism spectrum disorder（ASD） , mental retardation（MR）, multiplex ligation-dependent probe amplification（MLPA）, array-based comparative genomic hybridization

摘要：

注意缺陷多动障碍（ADHD）、 孤独症谱系障碍（ASD）和智力障碍（MR）是儿童发育门诊最常见的几种疾病。病因非常复杂， 包括生物医学因素和社会心理文化因素， 其中生物医学因素又包括遗传学因素等。随着这几年遗传学技术的迅速发展， 越来越多发育障碍相关疾病的染色体异常或基因异常病因被不断发现。这些遗传学技术包括已经成熟的常规染色体核型分析、 遗传代谢病筛查、一代基因测序技术、 新发展起来的二代测序技术和多重连接探针扩增技术（MLPA）及微阵列比较基因组杂交（aCGH）。 二代测序技术又包括全基因组测序、全外显子测序（WES）和疾病靶向序列测序技术（DTS）。临床医生可根据不同临床表现选择相应技术，以便查出遗传学病因。

关键词: 注意缺陷多动障碍, 孤独症谱系障碍, 智力障碍, 多重连接探针扩增技术, 微阵列比较基因组杂交