European meeting on Phelan-McDermid syndrome

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.

Organizing committee:
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

Main outcomes:
– 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.

JUNE 20th
13H00Welcome and outline of the meeting (Conny van Ravenswaaij, Netherlands)
13H30Results of parental survey (Sylvia Koza, Greece; Annemiek Landlust, Netherlands)
14H00Statements of the lived experience members of the consortium (Sandra Robert, Switzerland)
15H00Organization of care in PMS (Agnies van Eeghen, Netherlands)
15H45Implementation and legal consequences of the guideline (Klea Vyshka, France)
16H15Towards Implementation of the guideline and action on identified knowledge gaps (Conny van Ravenswaaij, Netherlands)
17H30General introduction to PMS (Michael Schön, Germany)
18H30Genetic counseling (Sarina Kant, Netherlands)
JUNE 21st
08h30Introduction of day 2
08H45Chewing, swallowing and gastrointestinal problems in PMS (Aušra Matulevičienė, Lithuania)
09H45Sensory dysfunction in PMS (Margreet Walinga, Netherlands)
11H15Epilepsy in PMS (René de Coo, Netherlands)
12H00Sleep disorders in PMS (Antonia San José Cáceres, Spain)
14H00Lymphedema in PMS (Sahar Mansour, UK)
14H30Tumours and ring chromosome 22 (Conny van Ravenswaaij, Netherlands)
15H00Mental health issues in PMS (Inge van Balkom, Netherlands)(-16:15)
16H45Medical surveillance scheme for PMS (Kinga Hadzsiev, Hungary)
17H45Language and speech problems in PMS (Ann Swillen, Belgium)(-18:30)
JUNE 22nd
08h30Introduction of day 2
08H45Implementation of Guideline recommendations (Conny van Ravenswaaij, Netherlands)
11H15Identified knowledge gaps and new research initiatives (Michael Schön, Germany)
13H00The European ILIAD-PMS database in conjunction with ERN-ITHACA (Thomas Bourgeron)