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

A. M. van Eeghen; European Phelan-McDermid syndrome guideline consortium; ERN ITHACA Guideline Working Group; C. M.W. Gaasterland; M. J.Klein Haneveld; A. M. van Eeghen; A. M. van Eeghen; A. M. van Eeghen; A. M. van Eeghen; D. Stemkens; José Ramón Fernández-Fructuoso; Anna Maruani; Anna Maruani; Anna Maruani; K. Hadzsiev; Kinga Hadzsiev; Ingrid D.C. van Balkom; Ingrid D.C. van Balkom; Ingrid D.C. van Balkom; Norma Alhambra; Britt Marie Anderlid; Britt Marie Anderlid; Stephanie Andres; Emmelien Aten; Rui Barbosa Guedes; Maria C. Bonaglia; Thomas Bourgeron; Monica Burdeus-Olavarrieta; Monica Burdeus-Olavarrieta; Maya J. Carbin; Els Kuiper; Jennifer Cooke; Robert J. Damstra; Irenaeus F.M. de Coo; Stella Di Domenico; D. Gareth Evans; José Ramón Fernández-Fructuoso; Andreas M. Grabrucker; Andreas M. Grabrucker; Andreas M. Grabrucker; Cecilia Gunnarson; Cecilia Gunnarson; Cecilia Gunnarson; Raoul C. Hennekam; Sarah Jesse; Sarina G. Kant; Sylvia A. Koza; Conny M.A. van Ravenswaaij-Arts; Margreet Walinga; Annemiek M. Landlust; Conny M.A. van Ravenswaaij-Arts; A. M. van Eeghen

doi:10.1016/j.ejmg.2023.104747

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

A. M. van Eeghen^*, European Phelan-McDermid syndrome guideline consortium, ERN ITHACA Guideline Working Group, C. M.W. Gaasterland, M. J.Klein Haneveld, A. M. van Eeghen^*, A. M. van Eeghen^*, A. M. van Eeghen^*, A. M. van Eeghen^*, D. Stemkens, José Ramón Fernández-Fructuoso, Anna Maruani, Anna Maruani, Anna Maruani, K. Hadzsiev, Kinga Hadzsiev, Ingrid D.C. van Balkom, Ingrid D.C. van Balkom, Ingrid D.C. van Balkom, Norma AlhambraBritt Marie Anderlid, Britt Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui Barbosa Guedes, Maria C. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Monica Burdeus-Olavarrieta, Maya J. Carbin, Els Kuiper, Jennifer Cooke, Robert J. Damstra, Irenaeus F.M. de Coo, Stella Di Domenico, D. Gareth Evans, José Ramón Fernández-Fructuoso, Andreas M. Grabrucker, Andreas M. Grabrucker, Andreas M. Grabrucker, Cecilia Gunnarson, Cecilia Gunnarson, Cecilia Gunnarson, Raoul C. Hennekam, Sarah Jesse, Sarina G. Kant, Sylvia A. Koza, Conny M.A. van Ravenswaaij-Arts, Margreet Walinga, Annemiek M. Landlust, Conny M.A. van Ravenswaaij-Arts, A. M. van Eeghen^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

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 language	English
Article number	104747
Journal	European Journal of Medical Genetics
Volume	66
Issue number	7
DOIs	https://doi.org/10.1016/j.ejmg.2023.104747
Publication status	Published - Jul 2023

Bibliographical note

Acknowledgements
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

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1-s2.0-S1769721223000538-mainFinal published version, 6.04 MBLicence: CC BY

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van Eeghen, A. M., European Phelan-McDermid syndrome guideline consortium, ERN ITHACA Guideline Working Group, Gaasterland, C. M. W., Haneveld, M. J. K., van Eeghen, A. M., van Eeghen, A. M., van Eeghen, A. M., van Eeghen, A. M., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Maruani, A., Maruani, A., Hadzsiev, K., Hadzsiev, K., van Balkom, I. D. C., van Balkom, I. D. C., van Balkom, I. D. C., ... van Eeghen, A. M. (2023). Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(7), Article 104747. https://doi.org/10.1016/j.ejmg.2023.104747

@article{306e860df7c84376b294e44ab22d27c0,

title = "Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome",

abstract = "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.",

author = "{van Eeghen}, {A. M.} and {European Phelan-McDermid syndrome guideline consortium} and {ERN ITHACA Guideline Working Group} and Gaasterland, {C. M.W.} and Haneveld, {M. J.Klein} and {van Eeghen}, {A. M.} and {van Eeghen}, {A. M.} and {van Eeghen}, {A. M.} and {van Eeghen}, {A. M.} and D. Stemkens and Fern{\'a}ndez-Fructuoso, {Jos{\'e} Ram{\'o}n} and Anna Maruani and Anna Maruani and Anna Maruani and K. Hadzsiev and Kinga Hadzsiev and {van Balkom}, {Ingrid D.C.} and {van Balkom}, {Ingrid D.C.} and {van Balkom}, {Ingrid D.C.} and Norma Alhambra and Anderlid, {Britt Marie} and Anderlid, {Britt Marie} and Stephanie Andres and Emmelien Aten and Guedes, {Rui Barbosa} and Bonaglia, {Maria C.} and Thomas Bourgeron and Monica Burdeus-Olavarrieta and Monica Burdeus-Olavarrieta and Carbin, {Maya J.} and Els Kuiper and Jennifer Cooke and Damstra, {Robert J.} and {de Coo}, {Irenaeus F.M.} and {Di Domenico}, Stella and Evans, {D. Gareth} and Fern{\'a}ndez-Fructuoso, {Jos{\'e} Ram{\'o}n} and Grabrucker, {Andreas M.} and Grabrucker, {Andreas M.} and Grabrucker, {Andreas M.} and Cecilia Gunnarson and Cecilia Gunnarson and Cecilia Gunnarson and Hennekam, {Raoul C.} and Sarah Jesse and Kant, {Sarina G.} and Koza, {Sylvia A.} and {van Ravenswaaij-Arts}, {Conny M.A.} and Margreet Walinga and Landlust, {Annemiek M.} and {van Ravenswaaij-Arts}, {Conny M.A.} and {van Eeghen}, {A. M.}",

note = "Acknowledgements 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{\textquoteright}s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N◦825575. Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = jul,

doi = "10.1016/j.ejmg.2023.104747",

language = "English",

volume = "66",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson",

number = "7",

}

van Eeghen, AM, European Phelan-McDermid syndrome guideline consortium, ERN ITHACA Guideline Working Group, Gaasterland, CMW, Haneveld, MJK, van Eeghen, AM, van Eeghen, AM, van Eeghen, AM, van Eeghen, AM, Stemkens, D, Fernández-Fructuoso, JR, Maruani, A, Maruani, A, Maruani, A, Hadzsiev, K, Hadzsiev, K, van Balkom, IDC, van Balkom, IDC, van Balkom, IDC, Alhambra, N, Anderlid, BM, Anderlid, BM, Andres, S, Aten, E, Guedes, RB, Bonaglia, MC, Bourgeron, T, Burdeus-Olavarrieta, M, Burdeus-Olavarrieta, M, Carbin, MJ, Kuiper, E, Cooke, J, Damstra, RJ, de Coo, IFM, Di Domenico, S, Evans, DG, Fernández-Fructuoso, JR, Grabrucker, AM, Grabrucker, AM, Grabrucker, AM, Gunnarson, C, Gunnarson, C, Gunnarson, C, Hennekam, RC, Jesse, S, Kant, SG, Koza, SA, van Ravenswaaij-Arts, CMA, Walinga, M, Landlust, AM, van Ravenswaaij-Arts, CMA & van Eeghen, AM 2023, 'Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome', European Journal of Medical Genetics, vol. 66, no. 7, 104747. https://doi.org/10.1016/j.ejmg.2023.104747

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome. / van Eeghen, A. M.; European Phelan-McDermid syndrome guideline consortium; ERN ITHACA Guideline Working Group et al.
In: European Journal of Medical Genetics, Vol. 66, No. 7, 104747, 07.2023.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

AU - van Eeghen, A. M.

AU - European Phelan-McDermid syndrome guideline consortium

AU - ERN ITHACA Guideline Working Group

AU - Gaasterland, C. M.W.

AU - Haneveld, M. J.Klein

AU - van Eeghen, A. M.

AU - Stemkens, D.

AU - Fernández-Fructuoso, José Ramón

AU - Maruani, Anna

AU - Hadzsiev, K.

AU - Hadzsiev, Kinga

AU - van Balkom, Ingrid 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 - Fernández-Fructuoso, José Ramón

AU - Grabrucker, Andreas M.

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 - van Eeghen, A. M.

N1 - Acknowledgements 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

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.

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U2 - 10.1016/j.ejmg.2023.104747

DO - 10.1016/j.ejmg.2023.104747

M3 - Article

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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 -

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

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