Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.

Journal Article (Journal Article)

PURPOSE: Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individuals is unclear and the prevalence of co-occurring conditions is unknown. METHODS: We mined the longitudinal electronic health records from more than one million individuals to investigate the health characteristics of patients who have been clinically diagnosed with FXS. Additionally, using machine-learning approaches, we created predictive models to identify individuals with FXS in the general population. RESULTS: Our discovery-oriented approach identified the associations of FXS with a wide range of medical conditions including circulatory, endocrine, digestive, and genitourinary, in addition to mental and neurological disorders. We successfully created predictive models to identify cases five years prior to clinical diagnosis of FXS without relying on any genetic or familial data. CONCLUSION: Although FXS is often thought of primarily as a neurological disorder, it is in fact a multisystem syndrome involving many co-occurring conditions, some primary and some secondary, and they are associated with a considerable burden on patients and their families.

Full Text

Duke Authors

Cited Authors

  • Movaghar, A; Page, D; Scholze, D; Hong, J; DaWalt, LS; Kuusisto, F; Stewart, R; Brilliant, M; Mailick, M

Published Date

  • July 2021

Published In

Volume / Issue

  • 23 / 7

Start / End Page

  • 1273 - 1280

PubMed ID

  • 33772223

Pubmed Central ID

  • PMC8257481

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1038/s41436-021-01144-7


  • eng

Conference Location

  • United States