PhD defence A.G.W. (Anna) Rosenberg

Below is a brief summary about the dissertation:

Adults with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Currently, many adults with CRGS do not do not receive the care they need. While the complexity and multi-morbidity of the syndromes require integrated multidisciplinary care, it is often fragmented and of poor quality. This is primarily due to lack of knowledge about these syndromes during adulthood. Since medical guidelines are frequently lacking, physicians do not know the pitfalls when treating these patients. This often results in poor healthcare efficiency, caused by under- and overdiagnostics and under- and overtreatment (like missed diagnoses and needless diagnostic procedures and treatments).

In this dissertation, we discussed different aspects related to diagnostics and medical treatment in adults with CRGS, in order to improve healthcare for these adults. Additionally, we provided practical recommendations on how to prevent under- and overdiagnostics and under- and overtreatment in these adults. Since our center is a center of reference for Prader-Willi syndrome (PWS), Neurofibromatosis type 1 (NF1) and Turner syndrome (TS), we paid special attention to these syndromes.