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

van Eeghen, A MEmma 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 (författare)

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.

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Pediatrik hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Pediatrics hsv//eng
Centre of expertise; Guideline; Intellectual disability; Organization of care; Phelan-McDermid syndrome

Stemkens, DVSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands (författare)
Fernández-Fructuoso, José RamónHospital General Universitario Santa Lucía, Cartagena, Spain (författare)
Maruani, AExcellence Center for Autism Spectrum & Neurodevelopmental Disorders, Inovand, Child and Adolescent Psychiatry Department, Hôpital Robert Debre, APHP, Paris, France; CRMR DICR, Rare Disease Center for Intellectual Disabilities, Defiscience, France (författare)
Hadzsiev, KDepartment of Medical Genetics, Medical School, University of Pécs, Pécs, Hungary (författare)
van Balkom, I D CJonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, the Netherlands (författare)
Gunnarsson, Cecilia,1970-Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Region Östergötland, Övr Regionledningskontoret,European Phelan-McDermid syndrome guideline consortium(Swepub:liu)cecgu53 (bidragsgivare)
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.nlVSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands (creator_code:org_t)

Av författaren/redakt...: van Eeghen, A M; Stemkens, D; Fernández-Fructu ...; Maruani, A; Hadzsiev, K; van Balkom, I D ...; visa fler...; Gunnarsson, Ceci ...; visa färre...

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