Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
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DOI：
10.1542/peds.2014-1839
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发表时间：
2014-09-01
期刊：
影响因子：
8
通讯作者：
Shevell, Michael
中科院分区：
文献类型：
--
作者：
Moeschler, John B.;Shevell, Michael
全面发育迟缓和智力残疾是相对常见的儿科疾病。本报告介绍了推荐的临床遗传学诊断方法。该报告基于对已发表报告的审查，其中大多数包括所使用的诊断测试的中大型病例系列，以及导致此类患者诊断的比例。染色体微阵列被指定为一线测试，并取代标准的核型和荧光原位杂交亚端粒测试与病因不明的智力残疾的儿童。脆性X染色体检测仍然是重要的一线检测。考虑在这一人群中进行先天性代谢缺陷检测的重要性得到了最近文献系统综述和最近发表的几个病例系列的支持。脑MRI的作用在某些患者中仍然很重要。也有一个讨论的新兴文献的使用全外显子组测序作为诊断测试在这一人群中。最后，家庭，医疗之家，临床遗传学专业诊所之间的故意comananxiety的重要性进行了讨论。
Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.