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

A.m. Van eeghen, D. Stemkens, José ramón Fernández-Fructuoso, A. Maruani, K. Hadzsiev, I.d.c. Van balkom, C.m.w. Gaasterland, M.j. Klein haneveld, Klea Vyshka, A. Hugon, A.m. Van eeghen, Norma Alhambra, Britt-Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui barbosa Guedes, Maria c. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Maya j. CarbinJennifer Cooke, Robert j. Damstra, Irenaeus f.m. De coo, Stella Di domenico, D. gareth Evans, José ramón Fernández-Fructuoso, Andreas m. Grabrucker, Cecilia Gunnarson, Kinga Hadzsiev, Raoul c. Hennekam, Sarah Jesse, Sarina g. Kant, Sylvia a. Koza, Els Kuiper, Annemiek m. Landlust, Pablo Lapunzina, Eva Loth, Sahar Mansour, Anna Maruani, Teresa Mattina, Aušra Matulevičienė, Julián Nevado, Susanne Parker, Sandra Robert, Carlo Sala, Antonia San josé cáceres, Michael Schön, Kamilė Šiaurytė, Daphne Stemkens, Dominique Stiefsohn, Ann Swillen, Anne c. Tabet, Roberto Toro, Alison Turner, Ingrid d.c. Van balkom, Griet Van buggenhout, Agnies m. Van eeghen, Conny m.a. Van ravenswaaij-Arts, Sabrina Van weering, Chiara Verpelli, Stephane Vignes, Annick Vogels, Klea Vyshka, Margreet Walinga

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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
Pages (from-to)104747
Issue number7
Publication statusPublished - 1 Jul 2023

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