Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosia
Abstract Introduction: Recognition of faces of family members, friends, and colleagues is an important skill essential for everyday life. Individuals affected by prosopagnosia (face blindness) have difficulty recognizing familiar individuals. The prevalence of prosopagnosia has been estimated to b...
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Cambridge University Press
2021-01-01
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Series: | Journal of Clinical and Translational Science |
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Online Access: | https://www.cambridge.org/core/product/identifier/S2059866120004975/type/journal_article |
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author | Christina Pressl Caroline S. Jiang Joel Correa da Rosa Maximilian Friedrich Roger Vaughan Winrich A. Freiwald Jonathan N. Tobin |
author_facet | Christina Pressl Caroline S. Jiang Joel Correa da Rosa Maximilian Friedrich Roger Vaughan Winrich A. Freiwald Jonathan N. Tobin |
author_sort | Christina Pressl |
collection | DOAJ |
description |
Abstract
Introduction:
Recognition of faces of family members, friends, and colleagues is an important skill essential for everyday life. Individuals affected by prosopagnosia (face blindness) have difficulty recognizing familiar individuals. The prevalence of prosopagnosia has been estimated to be as high as 3%. Prosopagnosia can severely impact the quality of life of those affected, and it has been suggested to co-occur with conditions such as depression and anxiety.
Methods:
To determine real-world diagnostic frequency of prosopagnosia and the spectrum of its comorbidities, we utilized a large database of more than 7.5 million de-identified electronic health records (EHRs) from patients who received care at major academic health centers and Federally Qualified Health Centers in New York City. We designed a computable phenotype to search the database for diagnosed cases of prosopagnosia, revealing a total of n = 902 cases. In addition, data from a randomly sampled matched control population (n = 100,973) were drawn from the database for comparative analyses to study the condition’s comorbidity landscape. Diagnostic frequency of prosopagnosia, epidemiological characteristics, and comorbidity landscape were assessed.
Results:
We observed prosopagnosia diagnoses at a rate of 0.012% (12 per 100,000 individuals). We discovered elevated frequency of prosopagnosia diagnosis for individuals who carried certain comorbid conditions, such as personality disorder, depression, epilepsy, and anxiety. Moreover, prosopagnosia diagnoses increased with the number of comorbid conditions.
Conclusions:
Results from this study show a wide range of comorbidities and suggest that prosopagnosia is vastly underdiagnosed. Findings imply important clinical consequences for the diagnosis and management of prosopagnosia as well as its comorbid conditions.
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first_indexed | 2024-04-10T04:54:11Z |
format | Article |
id | doaj.art-cf3130710eae4105b03b4e98b535bc19 |
institution | Directory Open Access Journal |
issn | 2059-8661 |
language | English |
last_indexed | 2024-04-10T04:54:11Z |
publishDate | 2021-01-01 |
publisher | Cambridge University Press |
record_format | Article |
series | Journal of Clinical and Translational Science |
spelling | doaj.art-cf3130710eae4105b03b4e98b535bc192023-03-09T12:31:02ZengCambridge University PressJournal of Clinical and Translational Science2059-86612021-01-01510.1017/cts.2020.497Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosiaChristina Pressl0Caroline S. Jiang1Joel Correa da Rosa2Maximilian Friedrich3Roger Vaughan4Winrich A. Freiwald5Jonathan N. Tobin6Laboratory of Neural Systems, The Rockefeller University, New York, NY, USADepartment of Biostatistics, The Rockefeller University, New York, NY, USADepartment of Explorative Biology, LEO Pharma, Ballerup, Denmark Center for Clinical and Translational Science, The Rockefeller University, New York, NY, USADepartment of Neurology, University Hospital Würzburg, Würzburg, GermanyDepartment of Biostatistics, The Rockefeller University, New York, NY, USA Center for Clinical and Translational Science, The Rockefeller University, New York, NY, USALaboratory of Neural Systems, The Rockefeller University, New York, NY, USACenter for Clinical and Translational Science, The Rockefeller University, New York, NY, USA Clinical Directors Network (CDN), New York, NY, USA Abstract Introduction: Recognition of faces of family members, friends, and colleagues is an important skill essential for everyday life. Individuals affected by prosopagnosia (face blindness) have difficulty recognizing familiar individuals. The prevalence of prosopagnosia has been estimated to be as high as 3%. Prosopagnosia can severely impact the quality of life of those affected, and it has been suggested to co-occur with conditions such as depression and anxiety. Methods: To determine real-world diagnostic frequency of prosopagnosia and the spectrum of its comorbidities, we utilized a large database of more than 7.5 million de-identified electronic health records (EHRs) from patients who received care at major academic health centers and Federally Qualified Health Centers in New York City. We designed a computable phenotype to search the database for diagnosed cases of prosopagnosia, revealing a total of n = 902 cases. In addition, data from a randomly sampled matched control population (n = 100,973) were drawn from the database for comparative analyses to study the condition’s comorbidity landscape. Diagnostic frequency of prosopagnosia, epidemiological characteristics, and comorbidity landscape were assessed. Results: We observed prosopagnosia diagnoses at a rate of 0.012% (12 per 100,000 individuals). We discovered elevated frequency of prosopagnosia diagnosis for individuals who carried certain comorbid conditions, such as personality disorder, depression, epilepsy, and anxiety. Moreover, prosopagnosia diagnoses increased with the number of comorbid conditions. Conclusions: Results from this study show a wide range of comorbidities and suggest that prosopagnosia is vastly underdiagnosed. Findings imply important clinical consequences for the diagnosis and management of prosopagnosia as well as its comorbid conditions. https://www.cambridge.org/core/product/identifier/S2059866120004975/type/journal_articleElectronic health records researchepidemiologybig datarare diseasesprosopagnosia |
spellingShingle | Christina Pressl Caroline S. Jiang Joel Correa da Rosa Maximilian Friedrich Roger Vaughan Winrich A. Freiwald Jonathan N. Tobin Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosia Journal of Clinical and Translational Science Electronic health records research epidemiology big data rare diseases prosopagnosia |
title | Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosia |
title_full | Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosia |
title_fullStr | Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosia |
title_full_unstemmed | Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosia |
title_short | Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosia |
title_sort | interrogating an icd coded electronic health records database to characterize the epidemiology of prosopagnosia |
topic | Electronic health records research epidemiology big data rare diseases prosopagnosia |
url | https://www.cambridge.org/core/product/identifier/S2059866120004975/type/journal_article |
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