Wiśniowiecka-Kowalnik Barbara, Kastory-Bronowska Monika, Stankiewicz Paweł
Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211 Warszawa, 0048 22 32-77-145,
Med Wieku Rozwoj. 2013 Jul-Sep;17(3):207-23.
Autism spectrum disorders (ASDs) are an etiologically and clinically heterogeneous group of neurodevelopmental disorders affecting approximately 0.6-1% of the general population. ASDs are characterized by deficits in social communication, impaired language development, and stereotyped repetitive behaviour. The impact of genetic factors in ASDs has been confirmed in the past few years. Numerous studies have shown that among patients with ASDs, approximately 10% have DNA copy number variation and 10-20% point mutations. Most of the deficiencies identified in individuals with ASDs relate to genes encoding proteins involved mainly in the development of neurons and their synapses functioning in various signaling pathways. Due to the large heterogeneity of identified changes in the genome of individuals with ASDs, the newest techniques enabling analysis of the entire genome in one study (microarrays, next-generation sequencing) are the methods of choice in the diagnostics of this pathology.
自闭症谱系障碍（ASD）是一组病因和临床症状各异的神经发育障碍，影响着约0.6%-1%的普通人群。ASD的特征包括社交沟通缺陷、语言发育受损以及刻板重复行为。过去几年已证实遗传因素对ASD有影响。大量研究表明，在ASD患者中，约10%有DNA拷贝数变异，10%-20%有基因突变。在患有ASD的个体中发现的大多数缺陷与主要参与神经元发育及其在各种信号通路中发挥作用的突触的蛋白质编码基因有关。由于在患有ASD的个体基因组中发现的变化具有很大的异质性，能够在一项研究中分析整个基因组的最新技术（微阵列、新一代测序）是诊断这种疾病的首选方法。
