TY - JOUR
T1 - Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO)
T2 - a prospective, controlled trial with a two-phase cohort design
AU - Hebestreit, Helge
AU - Lapstich, Anne Marie
AU - Brandstetter, Lilly
AU - ZSE-DUO Working Group
AU - Krauth, Christian
AU - Deckert, Jürgen
AU - Haas, Kirsten
AU - Pfister, Lisa
AU - Witt, Stefanie
AU - Schippers, Christopher
AU - Dieris-Hirche, Jan
AU - Maisch, Tim
AU - Tüscher, Oliver
AU - Bârlescu, Lavinia
AU - Berger, Alexandra
AU - Berneburg, Mark
AU - Britz, Vanessa
AU - Deibele, Anna
AU - Graeßner, Holm
AU - Gündel, Harald
AU - Heuft, Gereon
AU - Lücke, Thomas
AU - Mundlos, Christine
AU - Quitmann, Julia
AU - Rutsch, Frank
AU - Schubert, Katharina
AU - Schulz, Jörg Bernhard
AU - Schweiger, Susann
AU - Zeidler, Cornelia
AU - Zeltner, Lena
AU - de Zwaan, Martina
AU - Akkaya, Federica
AU - Babka, Christine
AU - Bannert, Lisa
AU - Bärsch-Michelmann, Anja
AU - Böhm, Leonie
AU - Brinkmann, Folke
AU - Bullinger, Monika
AU - Cario, Holger
AU - de Greck, Moritz
AU - Debatin, Klaus Michael
AU - Dillmann-Jehn, Katrin
AU - Eymann, Jutta
AU - Frisch, Julia
AU - Glode, Anja
AU - Gödecke, Vega
AU - Grasemann, Corinna
AU - Grauer, Eva
AU - Haas, Astrid
AU - Haisch, Lea
AU - Rieß, Olaf
N1 - Publisher Copyright:
© 2023 The Author(s)
PY - 2023/11
Y1 - 2023/11
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85174723066
U2 - 10.1016/j.eclinm.2023.102260
DO - 10.1016/j.eclinm.2023.102260
M3 - Article
AN - SCOPUS:85174723066
SN - 2589-5370
VL - 65
JO - EClinicalMedicine
JF - EClinicalMedicine
M1 - 102260
ER -
SDG 3 Good Health and Well-being