Abstract:
: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.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Moeschler JB,Shevell M,Committee on Genetics.doi
10.1542/peds.2014-1839subject
Has Abstractpub_date
2014-09-01 00:00:00pages
e903-18issue
3eissn
0031-4005issn
1098-4275pii
peds.2014-1839journal_volume
134pub_type
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