Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems

Arezoo Movaghar; David Page; Murray Brilliant; Marsha Mailick

doi:10.1001/jamanetworkopen.2021.41516

Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems

JAMA Netw Open. 2021 Dec 1;4(12):e2141516. doi: 10.1001/jamanetworkopen.2021.41516.

Authors

Arezoo Movaghar¹, David Page², Murray Brilliant¹, Marsha Mailick¹

Affiliations

¹ Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin.
² Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina.

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.

Publication types

Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
Data Mining
Electronic Health Records
Female
Fragile X Syndrome / diagnosis
Fragile X Syndrome / epidemiology*
Fragile X Syndrome / genetics
Genetic Testing
Humans
Infant
Infant, Newborn
Male
Middle Aged
Prevalence
Wisconsin / epidemiology
Young Adult