TY - JOUR
T1 - Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
AU - van Eeghen, A. M.
AU - Gaasterland, C. M.W.
AU - Haneveld, M. J.Klein
AU - Stemkens, D.
AU - Fernández-Fructuoso, José Ramón
AU - Maruani, A.
AU - Maruani, Anna
AU - Hadzsiev, K.
AU - van Balkom, I. D.C.
AU - Alhambra, Norma
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 - 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 - Grabrucker, Andreas M.
AU - Gunnarson, Cecilia
AU - Hennekam, Raoul C.
AU - Jesse, Sarah
AU - Kant, Sarina G.
AU - Koza, Sylvia A.
AU - Walinga, Margreet
AU - Landlust, Annemiek M.
AU - van Ravenswaaij-Arts, Conny M.A.
AU - ERN ITHACA Guideline Working Group
AU - European Phelan-McDermid syndrome guideline consortium
N1 - Funding Information:
Optimally, the local coordinating HCP has the closest relationship with the patient, and communicates regularly with the PMS expert centre as well as with other regional HCPs. During the transitional age phase, this appointed person organizes transfer to adult health care providers, according to NICE Guidelines ( National Institute for Health and Care Excellence, 2016 ), supported by the PMS expert centre and regional HCPs. The framework of the ICF ( World Health Organization, 2001 ) can be helpful for assessing functioning and identifying care needs to organize the content and domains of care for individuals with PMS.
Funding Information:
Depending on the care needs of the individual with PMS, the expert team can be supplemented with other specialists (ENT doctor, ophthalmologist, vascular surgeon/dermatologist, family support or other care).This project has been supported by the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA). Funding: ERN-ITHACA is partly co-funded by the Health Programme of the European Union. Funding was also obtained from the European Union's Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N?825575.
Publisher Copyright:
© 2023 The Authors
PY - 2023/7/1
Y1 - 2023/7/1
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
U2 - 10.1016/j.ejmg.2023.104747
DO - 10.1016/j.ejmg.2023.104747
M3 - Article
C2 - 37003574
SN - 1769-7212
VL - 66
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 7
M1 - 104747
ER -