期刊
NEUROLOGY
卷 77, 期 17, 页码 1629-1635出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e3182345896
关键词
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资金
- American Academy of Neurology
- Child Neurology Society
- Pfizer Inc
- NIH/NINDS
- March of Dimes
- Aicardi Syndrome Foundation
- Weston Havens Foundation
- Simons Foundation
- US Health Resources and Services Administration
- Centers for Disease Control
- BioMarin Pharmaceutical Inc.
- NIH
- publishing Pediatric Neurology: Principles and Practice
Objective: To systematically review the evidence concerning the diagnostic yield of genetic and metabolic evaluation of children with global developmental delay or intellectual disability (GDD/ID). Methods: Relevant literature was reviewed, abstracted, and classified according to the 4-tiered American Academy of Neurology classification of evidence scheme. Results and Conclusions: In patients with GDD/ID, microarray testing is diagnostic on average in 7.8% (Class III), G-banded karyotyping is abnormal in at least 4% (Class II and III), and subtelomeric fluorescence in situ hybridization is positive in 3.5% (Class I, II, and III). Testing for X-linked ID genes has a yield of up to 42% in males with an appropriate family history (Class III). FMR1 testing shows full expansion in at least2% of patients with mild to moderate GDD/ID (Class II and III), and MeCP2 testing is diagnostic in 1.5% of females with moderate to severe GDD/ID (Class III). Tests for metabolic disorders have a yield of up to 5%, and tests for congenital disorders of glycosylation and cerebral creatine disorders have yields of up to 2.8% (Class III). Several genetic and metabolic screening tests have been shown to have a better than 1% diagnostic yield in selected populations of children with GDD/ ID. These values should be among the many factors considered in planning the laboratory evaluation of such children. Neurology (R) 2011;77:1629-1635
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