title: Development of a provisional model to improve transitional care for female adolescents with a rare genital malformation as an example for orphan diseases.
abstract: Deficits of care exist during the transitional period, when young people with ongoing needs of support to achieve their physical, social, and psychological potential are entering adulthood. This study aims to develop a patient oriented, structured provisional model to improve transitional care for adolescents with Mayer-Rokitansky-Kuester-Hauser-Syndrome as an example for orphan diseases, where problems of access and continuity are even more complex. The study is funded by the German Federal Ministry of Education and Research (BMBF-Funding Code 01GY1125). The target patient group are young females with this disorder, treated at the Centre for Rare Genital Malformations in Women (ZSGF), University Hospital of Tuebingen. The study comprises five phases: an appraisal of literature, assessment of patients (n = 25), parents', partners', and health and social care providers' (n = 24) needs and experienced deficits in care and support in a qualitative approach, construction of a provisional model via scenario technique, followed by communicative validation (including interested public, n = 100), preference finding, and identification of patient-oriented quality aims for follow-up. Quantitative data from questionnaires and chart review (as sociodemographic data, nonresponder analysis, and preference rating) are worked up for descriptive statistics. The results provide a platform for the development of future multidisciplinary transitional intervention programs in orphan diseases.
authors.affiliation: Centre of Women's Health, University Hospital Tuebingen, 72076 Tuebingen, Germany ; Women's Health Research Institute, 72076 Tuebingen, Germany ; Social Medicine Staff Unit, University Hospital Tuebingen, 72076 Tuebingen, Germany.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Simoes
authors.affiliation: Institute of General Practice, University of Tuebingen, 72074 Tuebingen, Germany.
authors.forename: Andrea
authors.initials: A
authors.lastname: Kronenthaler
authors.affiliation: Institute of Occupational and Social Medicine and Health Services Research, 72074 Tuebingen, Germany.
authors.forename: Christine
authors.initials: C
authors.lastname: Emrich
authors.affiliation: Institute of Occupational and Social Medicine and Health Services Research, 72074 Tuebingen, Germany.
authors.forename: Monika A
authors.initials: MA
authors.lastname: Rieger
authors.affiliation: Centre of Women's Health, University Hospital Tuebingen, 72076 Tuebingen, Germany.
authors.forename: Kristin Katharina
authors.initials: KK
authors.lastname: Rall
authors.affiliation: Department of Psychosomatic Medicine and Psychotherapy, University Hospital Tuebingen, 72076 Tuebingen, Germany.
authors.forename: Norbert
authors.initials: N
authors.lastname: Schäffeler
authors.affiliation: Institute of General Practice, University of Tuebingen, 72074 Tuebingen, Germany.
authors.forename: Hanna
authors.initials: H
authors.lastname: Hiltner
authors.affiliation: Women's Health Research Institute, 72076 Tuebingen, Germany.
authors.forename: Esther
authors.initials: E
authors.lastname: Ueding
authors.affiliation: Centre of Women's Health, University Hospital Tuebingen, 72076 Tuebingen, Germany ; Women's Health Research Institute, 72076 Tuebingen, Germany.
authors.forename: Sara Y
authors.initials: SY
authors.lastname: Brucker
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000453:epidemiology* / Q000523:psychology; D000293:Adolescent; D000328:Adult; D000013:Congenital Abnormalities / Q000453:epidemiology* / Q000523:psychology; D005260:Female; D006296:Health Services; D006801:Humans; D001523:Mental Disorders / Q000453:epidemiology / Q000523:psychology; D009095:Mullerian Ducts / Q000002:abnormalities*; D035583:Rare Diseases / Q000453:epidemiology* / Q000523:psychology; D011795:Surveys and Questionnaires; D055815:Young Adult