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1
This cross-sectional study used electronic health records from 7,381,668 patients across Alabama, Georgia, North Carolina, and South Carolina.
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2
Among 839 expected cases of fragile X syndrome, 231 patients had a recorded diagnosis, for an overall diagnosis rate of 27.5%.
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3
The diagnosis rate was lower among Black patients than White patients (17.9% vs 30.6%; P < .001).
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4
Women had lower diagnosis rates than men overall and within each racial group; Black women had a lower rate than White women (3.5% vs 23.1%; P < .001).
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5
Case ascertainment relied on diagnostic codes, and estimates may be affected by changes in practice over 5 decades and uncertainty in FXS prevalence.
