Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE

Choukair, Daniela; Lee-Kirsch, Min Ae; Berner, Reinhard; Grasemann, Corinna; Hiort, Olaf; Hauck, Fabian; Klein, Christoph; Druschke, Diana; Hoffmann, Georg F. und Burgard, Peter (2021): Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE. In: Monatsschrift Kinderheilkunde, Bd. 170, Nr. 1: S. 52-60

Abstract

Background Rare diseases (RD) often manifest with heterogeneous, multisystemic phenotypes in childhood and evolve as chronic conditions. The RD pose a challenge for all affected and involved people. Funded by the German Federal Joint Committee (G-BA) the Innovation Fund project TRANSLATE-NAMSE had the goal to develop and test patient pathways to improve care for people with RD. Objective To develop a generic clinical pathway for patients with a presumptive diagnosis of one of five groups of RD that coordinates interdisciplinary care workflows from confirmatory diagnostics to long-term care of these patients. Methods The clinical pathway was designed as a general flowchart and process steps were transferred into an itemized checklist. The pathway was field-tested in 587 cases with a presumptive diagnosis of defined rare diseases in six university medical centers. Results A diagnosis was made in 369 (62,9%) cases with defined presumptive diagnoses and of those in 25,2% by innovative genetic testing. In 104 (17.7%) cases the presumptive diagnosis was discarded as false positive and 114 (19,4%) cases remaining unsolved. The median number of specialists attending case conferences was four. The median time between diagnosis and start of care (diagnosis, training, counselling, and information) was 0 days. Satisfaction of caregivers with the clinical pathway was high as shown by external evaluation. Conclusion In the German TRANSLATE-NAMSE project a clinical pathway for children with a suspected rare disease was successfully developed and tested. Implementation of this pathway into standard care requires adequate financing.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Physik
• Themengebiete: 500 Naturwissenschaften und Mathematik > 530 Physik
• ISSN: 0026-9298
• Sprache: Deutsch