Dr. Conny van Ravenswaaij runs an expert Phelan-McDermid syndrome clinic in the Netherlands, and was a leading force behind the European Phelan-McDermid syndrome clinical consensus guidelines. She and Kate discuss the clinical recommendations and how to share them with your clinicians. Conny also covers a clinical trial that she ran on intranasal insulin, and current work studying Ring 22 in Phelan-McDermid syndrome. 

Important links:

Clinical synopsis of european guidelines: https://ern-ithaca.eu/wp-content/uploads/2023/05/Clinical-synopsis-PMS-1.pdf

PMSF conference session on genetics (including Ring 22): https://www.youtube.com/watch?v=EOmPYpim3_8