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Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
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- van Eeghen, A M (author)
- Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Advisium, 's Heeren Loo, Amersfoort, the Netherlands. Electronic address a.m.vaneeghen@amsterdamumc.nl
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- Stemkens, D (author)
- VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands
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- Fernández-Fructuoso, José Ramón (author)
- Hospital General Universitario Santa Lucía, Cartagena, Spain
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- Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Advisium, 's Heeren Loo, Amersfoort, the Netherlands Electronic address a.m.vaneeghen@amsterdamumc.nl VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands (creator_code:org_t)
- Elsevier, 2023
- 2023
- English.
- In: European Journal of Medical Genetics. - : Elsevier. - 1769-7212 .- 1878-0849. ; 66:7
- Journal article (peer-reviewed)
Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- Centre of expertise; Guideline; Intellectual disability; Organization of care; Phelan-McDermid syndrome
Publication and Content Type
- ref (subject category)
- art (subject category)
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