Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

ERN ITHACA Guideline Working Group, European Phelan-McDermid syndrome guideline consortium, A M van Eeghen, D Stemkens, José Ramón Fernández-Fructuoso, A Maruani, K Hadzsiev, I D C van Balkom

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The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders.

Original languageEnglish
Article number104747
Number of pages9
JournalEuropean journal of medical genetics
Issue number7
Publication statusPublished - Jul-2023


  • Adult
  • Humans
  • Child
  • Consensus
  • Transition to Adult Care
  • Chromosome Disorders/diagnosis
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22/genetics

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