Interrogating an ICD-coded electronic health records database to characterize the epidemiology of prosopagnosia. Issue 1 (19th June 2020)

• Record Type: Journal Article
• Authors: Pressl, Christina; Jiang, Caroline S.; Correa da Rosa, Joel; Friedrich, Maximilian; Vaughan, Roger; Freiwald, Winrich A.; Tobin, Jonathan N.
• Is Part Of: Journal of clinical and translational science. Volume 5:Issue 1(2021)
• Publication Date: 2020-06-19
• Subjects: Electronic health records research, -- epidemiology, -- big data, -- rare diseases, -- prosopagnosia; Clinical medicine -- Research -- Periodicals; Medicine, Experimental -- Periodicals; Human experimentation in medicine -- Periodicals; 616.027
• DOI: 10.1017/cts.2020.497
• Languages: English
• ISSNs: 2059-8661

Abstract

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.