Comprehensive evaluation of the child with intellectual disability or global developmental delays.

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

Pediatrics

journal_title

Pediatrics

authors

Moeschler JB,Shevell M,Committee on Genetics.

doi

10.1542/peds.2014-1839

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

e903-18

issue

3

eissn

0031-4005

issn

1098-4275

pii

peds.2014-1839

journal_volume

134

pub_type

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