PhD defence K. (Karlijn) Pellikaan

Summary:

Prader-Willi syndrome (PWS) is a rare syndrome and therefore many people are unfamiliar with its characteristics. Despite the unfamiliarity, it has a major impact on the life of the person with PWS and their family.
People with PWS often have an insatiable hunger. This can take extreme forms: they can eat so much that their stomach ruptures or that they choke. Individuals with PWS also have many other health problems. For example, they often feel no pain and often do not mount a fever. Therefore, parents, supervisors and doctors often overlook medical problems in individuals with PWS. As a result, medical problems that often occur in individuals with PWS, such as hormone deficiencies, bone problems and cardiovascular disease, remain undiagnosed and untreated.
More and more children with PWS are reaching adulthood. Unfortunately, there are no guidelines or recommendations for the treatment of PWS in adults. This results in many medical mistakes and complications.
Scientific research was urgently needed to improve medical care for adults with PWS. Karlijn Pellikaan has researched hormone and organ problems in adults with PWS. Based on her research, we were able to formulate practical recommendations for the treatment of adults with PWS, which have been published in important international journals. These recommendations are now followed by physicians worldwide. We expect that there will be fewer medical errors and complications and that the quality of care (and life!) of adults with PWS will greatly improve as a result of our research.