Published online June 1, 2006
PEDIATRICS Vol. 117 No. 6 June 2006, pp. 2304-2316 (doi:10.1542/peds.2006-1006)
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CLINICAL REPORT

Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays

John B. Moeschler, MD, Michael Shevell, MD and the Committee on Genetics

This clinical report describes the clinical genetic evaluation of the child with developmental delays or mental retardation. The purpose of this report is to describe the optimal clinical genetics diagnostic evaluation to assist pediatricians in providing a medical home for children with developmental delays or mental retardation and their families. The literature supports the benefit of expert clinical judgment by a consulting clinical geneticist in the diagnostic evaluation. However, it is recognized that local factors may preclude this particular option. No single approach to the diagnostic process is supported by the literature. This report addresses the diagnostic importance of clinical history, 3-generation family history, dysmorphologic examination, neurologic examination, chromosome analysis (≥650 bands), fragile X molecular genetic testing, fluorescence in situ hybridization studies for subtelomere chromosome rearrangements, molecular genetic testing for typical and atypical presentations of known syndromes, computed tomography and/or magnetic resonance brain imaging, and targeted studies for metabolic disorders.

Key Words: developmental delay • mental retardation • medical home • diagnostic evaluation • dysmorphology • medical genetics • chromosome • fragile X • molecular genetics • inborn errors of metabolism • central nervous system malformations

Abbreviations: AAP—American Academy of Pediatrics • DD/MR—developmental delays or mental retardation • CNS—central nervous system • EEG—electroencephalography • CT—computed tomography • FISH—fluorescence in situ hybridization




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