Pain drawings as a diagnostic tool for the differentiation between two pain-associated rare diseases (Ehlers-Danlos-Synd
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RESEARCH
Pain drawings as a diagnostic tool for the differentiation between two pain‑associated rare diseases (Ehlers‑Danlos‑Syndrome, Guillain‑Barré‑Syndrome) Larissa Wester1†, Martin Mücke1*† , Tim Theodor Albert Bender1, Julia Sellin1, Frank Klawonn2,3, Rupert Conrad4† and Natasza Szczypien2†
Abstract Background: The diagnosis of rare diseases poses a particular challenge to clinicians. This study analyzes whether patients’ pain drawings (PDs) help in the differentiation of two pain-associated rare diseases, Ehlers-Danlos Syndrome (EDS) and Guillain-Barré Syndrome (GBS). Method: The study was designed as a prospective, observational, single-center study. The sample comprised 60 patients with EDS (3 male, 52 female, 5 without gender information; 39.2 ± 11.4 years) and 32 patients with GBS (10 male, 20 female, 2 without gender information; 50.5 ± 13.7 years). Patients marked areas afflicted by pain on a sketch of a human body with anterior, posterior, and lateral views. PDs were electronically scanned and processed. Each PD was classified based on the Ružička similarity to the EDS and the GBS averaged image (pain profile) in a leave-one-out cross validation approach. A receiver operating characteristic (ROC) curve was plotted. Results: 60–80% of EDS patients marked the vertebral column with the neck and the tailbone and the knee joints as pain areas, 40–50% the shoulder-region, the elbows and the thumb saddle joint. 60–70% of GBS patients marked the dorsal and plantar side of the feet as pain areas, 40–50% the palmar side of the fingertips, the dorsal side of the left palm and the tailbone. 86% of the EDS patients and 96% of the GBS patients were correctly identified by computing the Ružička similarity. The ROC curve yielded an excellent area under the curve value of 0.95. Conclusion: PDs are a useful and economic tool to differentiate between GBS and EDS. Further studies should investigate its usefulness in the diagnosis of other pain-associated rare diseases. This study was registered in the German Clinical Trials Register, No. DRKS00014777 (Deutsches Register klinischer Studien, DRKS), on 01.06.2018. Keywords: Differential diagnosis, Ružička similarity, Orphan diseases, Self-report instrument, ORPHA: 98249, ORPHA: 2103
*Correspondence: muecke@uni‑bonn.de † Larissa Wester, Martin Mücke, Rupert Conrad and Natasza Szczypien: shared first and senior authorship 1 Center for Rare Diseases Bonn (ZSEB), University Hospital Bonn, Bonn, Germany Full list of author information is available at the end of the article
Background Rare diseases present a great challenge for patients and physicians. The long way of suffering most patients must go through before they receive the correct diagnosis and treatment not only leads to enormous mental, physical,
© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit
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