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

Eur J Med Genet. 2023 Jul;66(7):104747. doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30.


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.

Keywords: Centre of expertise; Guideline; Intellectual disability; Organization of care; Phelan-McDermid syndrome.

MeSH terms

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

Supplementary concepts

  • Telomeric 22q13 Monosomy Syndrome