Author:
Moeschler John B.,Shevell Michael,
Abstract
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.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology, and Child Health
Reference79 articles.
1. American Academy of Pediatrics, Committee on Children With Disabilities. Developmental surveillance and screening in infants and young children. Pediatrics. 2001;108:192–196
2. Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay—report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003;60:367–380
3. Curry CJ, Stevenson RE, Aughton D, et al. Evaluation of mental retardation: recommendations of a consensus conference—American College of Medical Genetics. Am J Med Genet. 1997;72:468–477
4. van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet. 2005;13:6–25
5. van Karnebeek CDM, Scheper FY, Abeling NG, et al. Aetiology of mental retardation or borderline cognitive delay in 281 children referred to a tertiary care center: a prospective study. In: van Karnebeek CDM, ed. Mental Retardation: Diagnostic Studies on Aetiology [doctoral thesis]. Amsterdam, Netherlands: Department of Pediatrics/Emma Children's Hospital and Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam; 2002:75–108
Cited by
206 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献