Fragile X Syndrome in Adulthood: A Study of Electronic Health Records.
Arezoo Movaghar, Leann Smith DaWalt, Murray Brilliant and 4 others
Adults with Fragile X have substantially more cardiac, metabolic, and neurological medical encounters than age-matched peers without the diagnosis.
Black and White adults with FXS had nearly identical health profiles. First population-based study to document this in Black adults.
Key findings
1Black and White adults with Fragile X had nearly identical health profiles: after correcting for multiple comparisons, only six conditions differed between the two racial groups (one mental, five physical).
2Black adults with Fragile X had substantially more medical encounters than their Black matched controls for 23 mental and neurological conditions and 28 physical conditions, all in the direction of more encounters for the FXS group.
3Among the elevated physical conditions were nine cardiac (including heart valve disorders and cardiac dysrhythmias), seven endocrine/metabolic (including type 2 diabetes and hyperlipidemia), and five musculoskeletal (including osteoarthritis and foot deformities).
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What it does not show
The Black sample is only 44 adults, which limits the precision of any finding specific to that group. The study measures frequency of medical encounters (billing codes), not actual disease prevalence. More encounters could reflect more disease, but also more access to care, more referrals, or more documentation. Black FXS patients had medical records twice as long as their Black controls (7.4 vs 3.5 years), and although this was statistically controlled, the authors acknowledge it may still inflate encounter counts. The study is limited to Black and White non-Hispanic adults; patients of other racial and ethnic groups were excluded due to small numbers. The data come from billing and clinical records, not from research-specific assessments, so the range of questions that could be asked is limited. Most patients had at least some contact with the Rush FXS specialty clinic, so the sample may not represent adults without access to dedicated FXS care. Some EHR entries may reflect medication side effects rather than primary diagnoses (e.g., elevated liver enzymes from behavioral medications). A small number of undiagnosed FMR1 premutation carriers may be included in the control group, since genetic testing is not routine in this network. Sex-specific analyses were not possible due to the small number of women.
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