Evidence Report: Genetic and metabolic testing on children 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
Evidence Report: Genetic and metabolic testing on children 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
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DOI：
10.1212/wnl.0b013e3182345896
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发表时间：
2011-10-01
期刊：
影响因子：
9.9
通讯作者：
Ashwal, S.
中科院分区：
文献类型：
--
作者：
Michelson, D. J.;Shevell, M. I.;Ashwal, S.
目的：目的系统评价遗传和代谢评估对全面发育迟缓或智力残疾（GDD/ID）儿童的诊断价值。方法：查阅相关文献，并根据美国神经病学学会证据分类方案进行分类。在GDD/ID患者中，微阵列检测平均诊断率为7.8% G显带核型至少4%异常（II和III类），亚端粒荧光原位杂交阳性3.5%（I、II和III类）。X-连锁ID基因的检测在具有适当家族史的男性（III类）中的产量高达42%。FMR 1检测显示至少2%的轻度至中度GDD/ID（II类和III类）患者完全扩展，MeCP 2检测在1.5%的中度至重度GDD/ID（III类）女性中具有诊断性。代谢性疾病的测试有高达5%的收益率，和测试的糖基化和脑肌酸障碍的先天性疾病的收益率高达2.8%（III类）。一些遗传和代谢筛查试验已被证明有一个更好的诊断率在选定的人群中的GDD/ID的儿童。这些值应该是在计划的实验室评估这些儿童的许多因素中考虑。神经病学（R）2011;77：1629-1635
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