European meeting on Phelan-McDermid syndrome | Groningen, Netherlands, June 20 – 22, 2022
Professionals and patient representatives form the European Phelan-McDermid syndrome consortium: 23 on site and an additional 6 online, representing 12 European countries.
Conny van Ravenswaaij-Arts (NL), Michael Schön (DE), Kinga Hadzsiev (HU), Aušra Matulevičienė (LT), Sandra Robert (SU, patient representative), Klea Vyshka (FR, ITHACA)
The general objectives of this meeting were:
– discuss and vote on the recommendations of the European Phelan-McDermid syndrome guideline
– a strong collaboration between different European research groups and centres of expertise for Phelan-McDermid syndrome (PMS)
– insight in the needs of the patient representatives and strengthen their participation in research
– a priority list of knowledge gaps that need to be studied
– consensus on the variables to be collected in the European PMS database
– We managed to reach consensus on all recommendations within the guideline and made a start with a practical clinical surveillance checklist and an emergency card.
– We discussed the results of a worldwide survey among almost 600 families with PMS and agreed upon a new parental survey in order to establish a research priority list.
– We identified the knowledge gaps while discussing all recommendations that were formulated by the guideline consortium.
– We decided that a 2nd meeting within a year’s time was needed to discuss the parental research priorities, to give a state-of-the art of the currently ongoing PMS research and to invite more researchers to join our consortium. This 2nd meeting will take place in Spain in 2023.
– A working group has been established to further develop the European PMS database.
– The outcomes of the meeting and the guideline will be published in a special issue of the European Journal of Medical Genetics beginning 2023.
|13H00||Welcome and outline of the meeting (Conny van Ravenswaaij, Netherlands)|
|13H30||Results of parental survey (Sylvia Koza, Greece; Annemiek Landlust, Netherlands)|
|14H00||Statements of the lived experience members of the consortium (Sandra Robert, Switzerland)|
|15H00||Organization of care in PMS (Agnies van Eeghen, Netherlands)|
|15H45||Implementation and legal consequences of the guideline (Klea Vyshka, France)|
|16H15||Towards Implementation of the guideline and action on identified knowledge gaps (Conny van Ravenswaaij, Netherlands)|
|17H30||General introduction to PMS (Michael Schön, Germany)|
|18H30||Genetic counseling (Sarina Kant, Netherlands)|
|08h30||Introduction of day 2|
|08H45||Chewing, swallowing and gastrointestinal problems in PMS (Aušra Matulevičienė, Lithuania)|
|09H45||Sensory dysfunction in PMS (Margreet Walinga, Netherlands)|
|11H15||Epilepsy in PMS (René de Coo, Netherlands)|
|12H00||Sleep disorders in PMS (Antonia San José Cáceres, Spain)|
|14H00||Lymphedema in PMS (Sahar Mansour, UK)|
|14H30||Tumours and ring chromosome 22 (Conny van Ravenswaaij, Netherlands)|
|15H00||Mental health issues in PMS (Inge van Balkom, Netherlands)(-16:15)|
|16H45||Medical surveillance scheme for PMS (Kinga Hadzsiev, Hungary)|
|17H45||Language and speech problems in PMS (Ann Swillen, Belgium)(-18:30)|
|08h30||Introduction of day 2|
|08H45||Implementation of Guideline recommendations (Conny van Ravenswaaij, Netherlands)|
|11H15||Identified knowledge gaps and new research initiatives (Michael Schön, Germany)|
|13H00||The European ILIAD-PMS database in conjunction with ERN-ITHACA (Thomas Bourgeron)|