학술논문
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort designResearch in context
Document Type
article
Author
Helge Hebestreit; Anne-Marie Lapstich; Lilly Brandstetter; Christian Krauth; Jürgen Deckert; Kirsten Haas; Lisa Pfister; Stefanie Witt; Christopher Schippers; Jan Dieris-Hirche; Tim Maisch; Oliver Tüscher; Lavinia Bârlescu; Alexandra Berger; Mark Berneburg; Vanessa Britz; Anna Deibele; Holm Graeßner; Harald Gündel; Gereon Heuft; Thomas Lücke; Christine Mundlos; Julia Quitmann; Frank Rutsch; Katharina Schubert; Jörg Bernhard Schulz; Susann Schweiger; Cornelia Zeidler; Lena Zeltner; Martina de Zwaan; Federica Akkaya; Christine Babka; Lisa Bannert; Anja Bärsch-Michelmann; Leonie Böhm; Folke Brinkmann; Monika Bullinger; Holger Cario; Moritz de Greck; Klaus-Michael Debatin; Katrin Dillmann-Jehn; Jutta Eymann; Julia Frisch; Anja Glode; Vega Gödecke; Corinna Grasemann; Eva Grauer; Astrid Haas; Lea Haisch; Isabell; Heinrich; Melissa Held; Julia Hennermann; Stephan Herpertz; Anne Herrmann-Werner; Julian Hett; Peter Heuschmann; Bettina Hilbig; Laura Holthöfer; Christiane Imhof; Florian Junne; Jan Kassubek; Kevin-Thomas Koschitzki; Heike Krassort; Birgit Kropff; Julia Kuhn; Philipp Latzko; Thomas Loew; Albert C. Ludolph; Torsten Meyer; Isabell Meyer dos Santos; Klaus Mohnike; Martina Monninger; Martin Mücke; Susanne Müller; Thomas Musacchio; Margret Nießen; Mariel Nöhre; Stephan Ott; Andrea Petermann-Meyer; Christina Pfeifer-Duck; Lea-Sophie Piduhn; Carina Rampp; Olaf Rieß; Kristina Schaubert; Annika Schmidt; Simone Schneider; Ludger Schoels; Martina Schwalba; Udo Selig; Alexandra Sroka; Toni Steinbüchel; Sebastian Stösser; Steffi Suchant; Kathrin Ungethüm; Matthias Vogel; Daniela Volk; Christoph Vollmuth; Solange Volnov; Thomas O.F. Wagner; Sabrina Walter; Bodo Warrings; Kamil Zajt; Karola Zenker; David Zhang; Stephan Zipfel; Lavinia Aurelia Bârlescu; Julia Hannah Quitmann; Jörg B. Schulz; Lena Margarete Zeltner
Source
EClinicalMedicine, Vol 65, Iss , Pp 102260- (2023)
Subject
Language
English
ISSN
2589-5370
Abstract
Summary: Background: People with complex symptomatology but unclear diagnosis presenting to a centre for rare diseases (CRD) may present with mental (co-)morbidity. We hypothesised that combining an expert in somatic medicine with a mental health specialist working in tandem will improve the diagnostic outcome. Methods: Patients aged 12 years and older who presented to one of the 11 participating German CRDs with an unknown diagnosis were recruited into this prospective cohort trial with a two-phase cohort design. From October 1, 2018 to September 30, 2019, participants were allocated to standard care (SC, N = 684), and from October 1, 2019 to January 31, 2021 to innovative care (IC, N = 695). The cohorts consisted mainly of adult participants with only a minority of children included (N = 67). IC included the involvement of a mental health specialist in all aspects of care (e.g., assessing medical records, clinic visits, telehealth care, and case conferences). Clinicaltrials.gov identifier: NCT03563677. Findings: The proportion of patients with diagnoses established within 12 months after the first visit to the CRD explaining the entire symptomatology (primary outcome) was 19% (N = 131 of 672) in the SC and 42% (N = 286 of 686) in the IC cohort (OR adjusted for centre effects 3.45 [95% CrI: 1.99–5.65]). The difference was mainly due to a higher prevalence of mental disorders and non-rare somatic diseases in the IC cohort. The median time to explaining diagnoses was one month shorter with IC (95% CrI: 1–2), and significantly more patients could be referred to local regular care in the IC (27.5%; N = 181 of 659) compared to the SC (12.3%; N = 81 of 658) cohort (OR adjusted for centre effects 2.70 [95% CrI: 2.02–3.60]). At 12-month follow-up, patient satisfaction with care was significantly higher in the IC compared to the SC cohort, while quality of life was not different between cohorts. Interpretation: Our findings suggested that including a mental health specialist in the entire evaluation process of CRDs for undiagnosed adolescents and adults should become an integral part of the assessment of individuals with a suspected rare disease. Funding: The study was funded by the Global Innovation Fund from the Joint Federal Committee in Germany (Innovationsfonds des Gemeinsamen Bundesausschusses), grant number 01NVF17031.