Genovese Ann C, Butler Merlin G
Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Brain Sci. 2024 Mar 30;14(4):343. doi: 10.3390/brainsci14040343.
Syndromic autism refers to autism spectrum disorder diagnosed in the context of a known genetic syndrome. The specific manifestations of any one of these syndromic autisms are related to a clinically defined genetic syndrome that can be traced to certain genes and variants, genetic deletions, or duplications at the chromosome level. The genetic mutations or defects in single genes associated with these genetic disorders result in a significant elevation of risk for developing autism relative to the general population and are related to recurrence with inheritance patterns. Additionally, these syndromes are associated with typical behavioral characteristics or phenotypes as well as an increased risk for specific behavioral or psychiatric disorders and clinical findings. Knowledge of these associations helps guide clinicians in identifying potentially treatable conditions that can help to improve the lives of affected patients and their families.
综合征性自闭症是指在已知遗传综合征背景下诊断出的自闭症谱系障碍。这些综合征性自闭症中的任何一种的具体表现都与一种临床定义的遗传综合征相关,该综合征可追溯到某些基因和变异、基因缺失或染色体水平的重复。与这些遗传疾病相关的单基因中的基因突变或缺陷导致患自闭症的风险相对于一般人群显著升高,并且与遗传模式的复发有关。此外,这些综合征还与典型的行为特征或表型以及特定行为或精神疾病及临床发现的风险增加有关。了解这些关联有助于指导临床医生识别可能可治疗的病症,从而有助于改善受影响患者及其家庭的生活。