TY - JOUR
T1 - Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
AU - ERN ITHACA Guideline Working Group
AU - European Phelan-McDermid syndrome guideline consortium
AU - van Eeghen, A. M.
AU - Gaasterland, C. M.W.
AU - Haneveld, M. J.Klein
AU - van Eeghen, A. M.
AU - van Eeghen, A. M.
AU - van Eeghen, A. M.
AU - van Eeghen, Agnies M.
AU - Stemkens, D.
AU - Fernández-Fructuoso, José Ramón
AU - Maruani, A.
AU - Maruani, A.
AU - Maruani, Anna
AU - Hadzsiev, K.
AU - Hadzsiev, Kinga
AU - van Balkom, I. D.C.
AU - van Balkom, I. D.C.
AU - van Balkom, Ingrid D.C.
AU - Alhambra, Norma
AU - Anderlid, Britt Marie
AU - Anderlid, Britt Marie
AU - Andres, Stephanie
AU - Aten, Emmelien
AU - Guedes, Rui Barbosa
AU - Bonaglia, Maria C.
AU - Bourgeron, Thomas
AU - Burdeus-Olavarrieta, Monica
AU - Burdeus-Olavarrieta, Monica
AU - Carbin, Maya J.
AU - Kuiper, Els
AU - Cooke, Jennifer
AU - Damstra, Robert J.
AU - de Coo, Irenaeus F.M.
AU - Di Domenico, Stella
AU - Evans, D. Gareth
AU - Fernández-Fructuoso, José Ramón
AU - Grabrucker, Andreas M.
AU - Grabrucker, Andreas M.
AU - Grabrucker, Andreas M.
AU - Gunnarson, Cecilia
AU - Gunnarson, Cecilia
AU - Gunnarson, Cecilia
AU - Hennekam, Raoul C.
AU - Jesse, Sarah
AU - Kant, Sarina G.
AU - Koza, Sylvia A.
AU - van Ravenswaaij-Arts, Conny M.A.
AU - Walinga, Margreet
AU - Landlust, Annemiek M.
AU - van Ravenswaaij-Arts, Conny M.A.
AU - Landlust, Annemiek M.
N1 - Publisher Copyright:
© 2023 The Authors
PY - 2023/7
Y1 - 2023/7
N2 - 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.
AB - 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.
KW - Centre of expertise
KW - Guideline
KW - Intellectual disability
KW - Organization of care
KW - Phelan-McDermid syndrome
UR - https://www.scopus.com/pages/publications/85162852499
U2 - 10.1016/j.ejmg.2023.104747
DO - 10.1016/j.ejmg.2023.104747
M3 - Article
AN - SCOPUS:85162852499
SN - 1769-7212
VL - 66
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 7
M1 - 104747
ER -