Morgan Angela T, Webster Richard
Speech and Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Department of Audiology and Speech Pathology, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.
J Paediatr Child Health. 2018 Oct;54(10):1090-1095. doi: 10.1111/jpc.14150.
Childhood apraxia of speech (CAS) is a rare disorder of childhood that can leave a watermark of the impacts throughout the lifetime. Since being first described in the 1950s, aetiological insights have been limited. At a neurobiological level, clinical MRI scans fail to reveal overt neural anomalies in individual cases with CAS, although quantitative MRI methods have revealed subtle brain anomalies at a group level. Dramatic insights, however, occurred in the past decade from the discovery of genetic pathways underlying the phenotype. Several single genes and copy number-variant conditions are now associated with CAS either in relative isolation, as in the case of FOXP2 variants, or most typically in association with other neurodevelopmental conditions, such as epilepsy, intellectual disability, motor impairment and autism. CAS requires careful differential diagnosis from other childhood speech disorders, but when a severe and persistent diagnosis is confirmed, a genetic aetiology should increasingly be pursued.
儿童言语失用症（CAS）是一种罕见的儿童疾病，其影响可能会在一生中留下印记。自20世纪50年代首次被描述以来，病因学方面的认识一直有限。在神经生物学层面，临床磁共振成像（MRI）扫描未能在个别CAS病例中发现明显的神经异常，尽管定量MRI方法在群体层面揭示了细微的脑部异常。然而，在过去十年中，由于发现了该表型背后的遗传途径，出现了重大进展。现在，几个单基因和拷贝数变异情况与CAS相关，要么相对独立存在，如FOXP2变异的情况，要么最常见的是与其他神经发育疾病相关，如癫痫、智力残疾、运动障碍和自闭症。CAS需要与其他儿童言语障碍进行仔细的鉴别诊断，但当确诊为严重且持续的疾病时，应越来越多地探寻遗传病因。
