两个医疗系统中脆性X综合征诊断不足的患病率
Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.
作者信息
Movaghar Arezoo, Page David, Brilliant Murray, Mailick Marsha
机构信息
Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin.
Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina.
出版信息
JAMA Netw Open. 2021 Dec 1;4(12):e2141516. doi: 10.1001/jamanetworkopen.2021.41516.
Abstract
This cross-sectional study examines the gap between best estimates of prevalence and clinical diagnosis of fragile X syndrome by mining the electronic health records of 3.8 million people in Wisconsin.
摘要
这项横断面研究通过挖掘威斯康星州380万人的电子健康记录，考察了脆性X综合征患病率的最佳估计值与临床诊断之间的差距。
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Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.
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5
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6
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7
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8
Screening for fragile X syndrome: information needs for health planners.
J Med Screen. 1997;4(2):60-94. doi: 10.1177/096914139700400204.
9
[The fragile chromosome X syndrome].
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10
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本文引用的文献
1
Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
Genet Med. 2021 Jul;23(7):1273-1280. doi: 10.1038/s41436-021-01144-7. Epub 2021 Mar 26.
2
Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample.
JAMA Psychiatry. 2020 Sep 1;77(9):979-981. doi: 10.1001/jamapsychiatry.2020.0950.
3
Fragile X syndrome.
Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65.
4
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Am J Med Genet A. 2014 Jul;164A(7):1648-58. doi: 10.1002/ajmg.a.36511. Epub 2014 Apr 3.
5
Newborn, carrier, and early childhood screening recommendations for fragile X.
Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5.
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