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

Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839.

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.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics
  • Developmental Disabilities / psychology
  • Disability Evaluation*
  • Female
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Intellectual Disability / psychology
  • Karyotyping / methods
  • Male