PDF(Pubmed)
Abstract：
Outpatient diagnostics for adult patients with intellectual disabilities and developmental disorders were significantly improved when \'Medical Centers for Adults with Disabilities\' (MZEB) were established in 2015 in accordance with a new law (§ 119c SGB V). Due to the multi-professional nature of these MZEBs, cooperation with various specialized centers can be initiated. Accordingly, in 2023, a cooperation between the MZEB in the LVR-Clinic Bedburg-Hau and the Institute of Human Genetics, Heinrich-Heine University (HHU) Düsseldorf was initiated. Interdisciplinary consultation hours for adult patients have been established in Bedburg-Hau offering genetic counselling and testing to identify the underlying genetic entity. We will introduce this new structure and report preliminary results.
摘要：
根据一项新法律（§19cSGBV），在2015年成立了“成人残疾医学中心”（MZEB）后，对患有智力残疾和发育障碍的成年患者的门诊诊断得到了显着改善。由于这些MZEB的多专业性质，可以启动与各种专业中心的合作。因此，2023年，LVR-ClinicBedburg-Hau的MZEB与人类遗传学研究所之间的合作，海因里希-海涅大学（HHU）杜塞尔多夫成立。在Bedburg-Hau建立了成人患者的跨学科咨询时间，提供遗传咨询和检测，以确定潜在的遗传实体。我们将介绍这种新结构并报告初步结果。
