Abstract

In 2008, the NIH launched an undiagnosed diseases program to investigate difficult to diagnose, and typically, multi-system diseases. The objective of this study was to evaluate the presence of psychiatric symptoms or psychiatric diagnoses in a cohort of patients seeking care at the Emory Special Diagnostic Service clinic. We hypothesized that psychiatric symptoms would be prevalent and associated with trauma exposure, and a decreased quality of life and functioning. This is a cross-sectional, retrospective analysis of 247 patients seen between February 7, 2014 and May 31, 2017. The sources for data included the Emory Health History Questionnaire (HHQ) that had the work and social adjustment and quality of life enjoyment and satisfaction questionnaire–short form (QLSQ) embedded in it; medical records, and the comprehensive standardized special diagnostic clinic forms. Primary outcomes were presence of any psychiatric symptom, based on report of the symptom on the HHQ or medical record, or presence of a confirmed preexisting psychiatric disorder. Seventy-two percent of patients had at least one psychiatric symptom while 24.3% of patients had a pre-existing psychiatric diagnosis. Patients with any psychiatric symptom had significantly diminished Q-LES-Q scores (45.27 ± 18.63) versus patients with no psychiatric symptoms (62.01 ± 21.57, t = 5.60, df = 225, p<0.0001) and they had significantly greater functional disability. Patients with a psychiatric disorder also had significantly diminished Q-LES-Q scores (45.16 ± 17.28) versus those without a psychiatric diagnosis (51.85 ± 21.54, t = 2.11, df = 225, p = 0.036) but did not have significantly increased functional impairment. Both patients with psychiatric symptoms and ones with psychiatric disorders had an increased prevalence of trauma. Psychiatric symptoms are prevalent in patients evaluated for undiagnosed disorders. The presence of any psychiatric symptom, with or without a formal psychiatric diagnosis, significantly decreases quality of life and functioning. This suggests that assessment for psychiatric symptoms should be part of the evaluation of individuals with undiagnosed disorders and may have important diagnostic and treatment implications.

Highlights

  • More than a decade ago in 2008, the NIH launched an undiagnosed disease program to study difficult to diagnose, persistent multi-system syndromes of unknown etiology.[1]. This program and other similar endeavors have been successful in identifying diagnoses in about 35% of patients, most of those diagnoses being either rare genetic disorders or newly identified genetic syndromes based on whole genome sequencing. [1,2,3,4,5,6] The Seavey Comprehensive Internal Medicine Clinic at Emory University School of Medicine recognized the need for such a clinic and developed the Emory Special Diagnostic Services (ESDS)

  • Employing the broad definition of psychiatric characteristics, 72% of the patients evaluated in the ESDS program had psychiatric symptoms or diagnoses

  • This crude screening tool (S1 Form) plus review of medical records suggest that psychiatric symptoms are prevalent in this population of patients, even when patients with suspected somatization disorders, fibromyalgia, and pain disorders are excluded

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Summary

Introduction

More than a decade ago in 2008, the NIH launched an undiagnosed disease program to study difficult to diagnose, persistent multi-system syndromes of unknown etiology.[1]. Psychiatric symptoms and psychiatric comorbidity are prevalent among patients with primary medical disorders with over 29% of medical patients a comorbid psychiatric disorder.[8, 9] The prevalence rates of comorbid depression alone range from 12–23% for outpatient cardiology patients, 12–18% for outpatients with diabetes, and from 16–36% of outpatients with HIV.[10,11,12,13,14] The presence of psychiatric disorders complicates the clinical course of the medical disorders and increases the cost of treatment.[10, 15] some patients with difficult to diagnose medical and neurological disorders may be suffering from unrecognized somatic symptom disorders or functional neurological disorders.[16,17,18,19] The presence of either psychiatric comorbidities or somatic symptom disorders is associated with decreased quality of life and functioning.[20,21,22,23,24] At this time there are no publications evaluating the presence nor impact of psychiatric symptoms nor co-morbid psychiatric disorders in patients evaluated in an Undiagnosed Diseases Clinic or in the NIH Undiagnosed Diseases Program. We postulated that subjects with psychiatric symptoms would be more likely to have a lifetime history of trauma.[19, 25]

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