Children with autism spectrum disorders (ASD) have unique developmental and behavioral phenotypes, and they have specific challenges with communication, social skills, and repetitive behaviors. At this time, no single etiology for ASD has been identified. However, evidence from family studies and linkage analyses suggests that genetic factors play a pivotal role in the etiology of ASD. However, ASD appear to be influenced by complex genetic and environmental factors, and evidence suggests that this is not a single gene disorder. In particular, ASD has a complex behavioral phenotype, and this variation reflects complex genotypes under the influence of external factors. With these considerations in mind, it is important to recognize that genetic testing is a vital component of the diagnostic evaluation of children with ASD. For example, children with ASD who have definitive etiologies may be able to access more specific resources, they may be spared long, emotionally and financially exhausting diagnostic journeys, and associated medical conditions and comorbidities can be managed proactively. Most importantly, children with disabilities of unknown origin should have an ongoing evaluation of potential etiologies for their symptoms (Crocker, 1987). Our purpose is to describe current trends in genetic testing for ASD, potential genetic etiologies of ASD, known genetic disorders associated with ASD, and recommendations for genetic testing in ASD. We will also emphasize the importance of access to informed health professionals, especially in the contexts of stigma and community supports. ? 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:3-8.
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机译：患有自闭症谱系障碍（ASD）的儿童具有独特的发育和行为表型，并且在沟通，社交技能和重复行为方面面临特殊挑战。目前，尚无ASD的单一病因。但是，来自家庭研究和连锁分析的证据表明，遗传因素在ASD的病因中起着关键作用。然而，ASD似乎受复杂的遗传和环境因素影响，证据表明这不是单一基因疾病。特别是，ASD具有复杂的行为表型，并且这种变化反映了在外部因素影响下的复杂基因型。考虑到这些考虑因素，重要的是要认识到基因检测是对ASD儿童进行诊断评估的重要组成部分。例如，具有明确病因的患有自闭症的儿童可能能够获得更多特定的资源，他们可能会在漫长的情感和财务上花费大量的精力进行诊断，并能积极地管理相关的医疗条件和合并症。最重要的是，来历不明的残疾儿童应不断评估其症状的潜在病因（Crocker，1987）。我们的目的是描述ASD基因检测的当前趋势，ASD的潜在遗传病因，与ASD相关的已知遗传性疾病以及ASD基因检测的建议。我们还将强调获得知识渊博的卫生专业人员的重要性，尤其是在污名化和社区支持的情况下。 ？ 2012 Wiley Periodicals，Inc.开发Disabil Res Rev 2011; 17：3-8
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