Autism spectrum disorder is a neurodevelopmental disorder characterized by deficits in communication, stereotyped behaviors, restricted interests, and impaired social skills. The severity of the neurobehavioral phenotype is variable and historically has been distinguished based on the presence or absence of additional symptoms, termed syndromic and nonsyndromic or idiopathic autism, respectively. However, although the advancement in genetic molecular technologies has brought an increased understanding of the pathophysiology of autism, most of this success has been in the diagnosis of syndromic disease, whereas the etiology of nonsyndromic autism remains less understood. Here we review the common and rare genetic syndromes that feature autism, specifically highlighting deletion and duplication syndromes, chromosomal anomalies, and monogenic disorders. We show that the study of syndromic autism provides insight into the phenotypic and molecular heterogeneity of neurodevelopmental disease and suggests how study of these disorders can be helpful in understanding disease mechanisms implicated in nonsyndromic autism.

自闭症谱系障碍是一种神经发育障碍，其特征是沟通障碍、刻板行为、兴趣受限和社交技能受损。神经行为表型的严重程度是可变的，历史上根据是否存在其他症状进行区分，分别称为综合征性和非综合征性或特发性孤独症。然而，尽管基因分子技术的进步使人们对自闭症的病理生理学有了更多的了解，但这种成功的大部分是在综合征疾病的诊断上，而非综合征性孤独症的病因学仍然知之甚少。在这里，我们回顾了以自闭症为特征的常见和罕见的遗传综合征，特别强调了缺失和重复综合征、染色体异常、和单基因疾病。我们表明，对综合征性孤独症的研究提供了对神经发育疾病表型和分子异质性的洞察，并表明对这些疾病的研究如何有助于理解与非综合征性孤独症有关的疾病机制。