Amor David J
Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
J Paediatr Child Health. 2018 Oct;54(10):1154-1158. doi: 10.1111/jpc.14202.
The search for causation is a key component of the assessment of the child with intellectual disability. Historically, a specific diagnosis has been achievable in only a small minority of these children, but over the last decade, this has changed dramatically such that a specific diagnosis is now possible in about half of all children with intellectual disability. This improvement has been driven by major advances in genetic-testing technologies, the most important of which are chromosome microarray and whole exome sequencing. Simultaneously, these technological advances have revealed many new genetic syndromes that had previously escaped clinical recognition, and demonstrated that the majority of severe intellectual disability is caused by pathogenic gene variants that arise de novo in the child. Although access to genomic testing is currently limited, evidence from health economic studies suggests that this testing is most cost effective when performed early in the patient's diagnostic journey.
寻找病因是评估智力残疾儿童的关键组成部分。从历史上看，只有一小部分这类儿童能够获得特定诊断，但在过去十年中，这种情况发生了巨大变化，现在大约一半的智力残疾儿童都有可能获得特定诊断。这一进展得益于基因检测技术的重大进步，其中最重要的是染色体微阵列和全外显子组测序。同时，这些技术进步揭示了许多以前未被临床认识的新的基因综合征，并表明大多数严重智力残疾是由儿童新发的致病基因变异引起的。尽管目前基因组检测的可及性有限，但卫生经济学研究的证据表明，在患者诊断过程的早期进行这种检测最具成本效益。
