EClinicalMedicine (Nov 2023)

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

  • 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,
  • 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 Aurelia Bârlescu,
  • Alexandra Berger,
  • Mark Berneburg,
  • Vanessa Britz,
  • Anna Deibele,
  • Holm Graeßner,
  • Harald Gündel,
  • Gereon Heuft,
  • Thomas Lücke,
  • Christine Mundlos,
  • Julia Hannah Quitmann,
  • Frank Rutsch,
  • Katharina Schubert,
  • Jörg B. Schulz,
  • Susann Schweiger,
  • Cornelia Zeidler,
  • Lena Margarete Zeltner,
  • Martina de Zwaan

Journal volume & issue
Vol. 65
p. 102260

Abstract

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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.

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