Dr. Joost Kummeling – Mapping & Tackling the Development and Psychiatry in Kleefstra Syndrome

Kleefstra Syndrome (KS) is a rare genetic disorder caused by a defect of the EHTM1 gene. Many patients with KS experience psychiatric problems, which are often hard to diagnose and treat. Professor Kleefstra’s team set up a follow-up study to map out and monitor the well-being of people with KS. In addition, they want to evaluate the efficacy of the well-known anti-psychotic drug Olanzapine in people with KS who are experiencing psychotic episodes.