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

A.m. Van eeghen; D. Stemkens; José ramón Fernández-Fructuoso; A. Maruani; K. Hadzsiev; I.d.c. Van balkom; C.m.w. Gaasterland; M.j. Klein haneveld; Klea Vyshka; A. Hugon; A.m. Van eeghen; Norma Alhambra; Britt-Marie Anderlid; Stephanie Andres; Emmelien Aten; Rui barbosa Guedes; Maria c. Bonaglia; Thomas Bourgeron; Monica Burdeus-Olavarrieta; Maya j. Carbin; Jennifer Cooke; Robert j. Damstra; Irenaeus f.m. De coo; Stella Di domenico; D. gareth Evans; José ramón Fernández-Fructuoso; Andreas m. Grabrucker; Cecilia Gunnarson; Kinga Hadzsiev; Raoul c. Hennekam; Sarah Jesse; Sarina g. Kant; Sylvia a. Koza; Els Kuiper; Annemiek m. Landlust; Pablo Lapunzina; Eva Loth; Sahar Mansour; Anna Maruani; Teresa Mattina; Aušra Matulevičienė; Julián Nevado; Susanne Parker; Sandra Robert; Carlo Sala; Antonia San josé cáceres; Michael Schön; Kamilė Šiaurytė; Daphne Stemkens; Dominique Stiefsohn; Ann Swillen; Anne c. Tabet; Roberto Toro; Alison Turner; Ingrid d.c. Van balkom; Griet Van buggenhout; Agnies m. Van eeghen; Conny m.a. Van ravenswaaij-Arts; Sabrina Van weering; Chiara Verpelli; Stephane Vignes; Annick Vogels; Klea Vyshka; Margreet Walinga

doi:10.1016/j.ejmg.2023.104747

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

A.m. Van eeghen, D. Stemkens, José ramón Fernández-Fructuoso, A. Maruani, K. Hadzsiev, I.d.c. Van balkom, C.m.w. Gaasterland, M.j. Klein haneveld, Klea Vyshka, A. Hugon, A.m. Van eeghen, Norma Alhambra, Britt-Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui barbosa Guedes, Maria c. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Maya j. CarbinJennifer Cooke, Robert j. Damstra, Irenaeus f.m. De coo, Stella Di domenico, D. gareth Evans, José ramón Fernández-Fructuoso, Andreas m. Grabrucker, Cecilia Gunnarson, Kinga Hadzsiev, Raoul c. Hennekam, Sarah Jesse, Sarina g. Kant, Sylvia a. Koza, Els Kuiper, Annemiek m. Landlust, Pablo Lapunzina, Eva Loth, Sahar Mansour, Anna Maruani, Teresa Mattina, Aušra Matulevičienė, Julián Nevado, Susanne Parker, Sandra Robert, Carlo Sala, Antonia San josé cáceres, Michael Schön, Kamilė Šiaurytė, Daphne Stemkens, Dominique Stiefsohn, Ann Swillen, Anne c. Tabet, Roberto Toro, Alison Turner, Ingrid d.c. Van balkom, Griet Van buggenhout, Agnies m. Van eeghen, Conny m.a. Van ravenswaaij-Arts, Sabrina Van weering, Chiara Verpelli, Stephane Vignes, Annick Vogels, Klea Vyshka, Margreet Walinga

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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
Pages (from-to)	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 - 1 Jul 2023

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https://linkinghub.elsevier.com/retrieve/pii/S1769721223000538

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Van eeghen, A. M., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Hadzsiev, K., Van balkom, I. D. C., Gaasterland, C. M. W., Klein haneveld, M. J., Vyshka, K., Hugon, A., Van eeghen, A. M., Alhambra, N., Anderlid, B-M., Andres, S., Aten, E., Guedes, R. B., Bonaglia, M. C., Bourgeron, T., Burdeus-Olavarrieta, M., ... Walinga, M. (2023). Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS, 66(7), 104747. [104747]. https://doi.org/10.1016/j.ejmg.2023.104747

@article{a8375b8f8c934ff69bf112443f710fe3,

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 D. Stemkens and Fern{\'a}ndez-Fructuoso, {Jos{\'e} ram{\'o}n} and A. Maruani and K. Hadzsiev and {Van balkom}, I.d.c. and C.m.w. Gaasterland and {Klein haneveld}, M.j. and Klea Vyshka and A. Hugon and {Van eeghen}, A.m. and Norma Alhambra and Britt-Marie Anderlid and Stephanie Andres and Emmelien Aten and Guedes, {Rui barbosa} and Bonaglia, {Maria c.} and Thomas Bourgeron and Monica Burdeus-Olavarrieta and Carbin, {Maya j.} 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 Cecilia Gunnarson and Kinga Hadzsiev and Hennekam, {Raoul c.} and Sarah Jesse and Kant, {Sarina g.} and Koza, {Sylvia a.} and Els Kuiper and Landlust, {Annemiek m.} and Pablo Lapunzina and Eva Loth and Sahar Mansour and Anna Maruani and Teresa Mattina and Au{\v s}ra Matulevi{\v c}ienė and Juli{\'a}n Nevado and Susanne Parker and Sandra Robert and Carlo Sala and {San jos{\'e} c{\'a}ceres}, Antonia and Michael Sch{\"o}n and Kamilė {\v S}iaurytė and Daphne Stemkens and Dominique Stiefsohn and Ann Swillen and Tabet, {Anne c.} and Roberto Toro and Alison Turner and {Van balkom}, {Ingrid d.c.} and {Van buggenhout}, Griet and {Van eeghen}, {Agnies m.} and {Van ravenswaaij-Arts}, {Conny m.a.} and {Van weering}, Sabrina and Chiara Verpelli and Stephane Vignes and Annick Vogels and Klea Vyshka and Margreet Walinga",

note = "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: {\textcopyright} 2023 The Authors",

year = "2023",

month = jul,

day = "1",

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

language = "English",

volume = "66",

pages = "104747",

journal = "EUROPEAN JOURNAL OF MEDICAL GENETICS",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

number = "7",

}

Van eeghen, AM, Stemkens, D, Fernández-Fructuoso, JR, Maruani, A, Hadzsiev, K, Van balkom, IDC, Gaasterland, CMW, Klein haneveld, MJ, Vyshka, K, Hugon, A, Van eeghen, AM, Alhambra, N, Anderlid, B-M, Andres, S, Aten, E, Guedes, RB, Bonaglia, MC, Bourgeron, T, Burdeus-Olavarrieta, M, Carbin, MJ, Cooke, J, Damstra, RJ, De coo, IFM, Di domenico, S, Evans, DG, Fernández-Fructuoso, JR, Grabrucker, AM, Gunnarson, C, Hadzsiev, K, Hennekam, RC, Jesse, S, Kant, SG, Koza, SA, Kuiper, E, Landlust, AM, Lapunzina, P, Loth, E, Mansour, S, Maruani, A, Mattina, T, Matulevičienė, A, Nevado, J, Parker, S, Robert, S, Sala, C, San josé cáceres, A, Schön, M, Šiaurytė, K, Stemkens, D, Stiefsohn, D, Swillen, A, Tabet, AC, Toro, R, Turner, A, Van balkom, IDC, Van buggenhout, G, Van eeghen, AM, Van ravenswaaij-Arts, CMA, Van weering, S, Verpelli, C, Vignes, S, Vogels, A, Vyshka, K & Walinga, M 2023, 'Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome', EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 66, no. 7, 104747, pp. 104747. https://doi.org/10.1016/j.ejmg.2023.104747

TY - JOUR

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

AU - Van eeghen, A.m.

AU - Stemkens, D.

AU - Fernández-Fructuoso, José ramón

AU - Maruani, A.

AU - Hadzsiev, K.

AU - Van balkom, I.d.c.

AU - Gaasterland, C.m.w.

AU - Klein haneveld, M.j.

AU - Vyshka, Klea

AU - Hugon, A.

AU - Van eeghen, A.m.

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 - 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 - Hadzsiev, Kinga

AU - Hennekam, Raoul c.

AU - Jesse, Sarah

AU - Kant, Sarina g.

AU - Koza, Sylvia a.

AU - Kuiper, Els

AU - Landlust, Annemiek m.

AU - Lapunzina, Pablo

AU - Loth, Eva

AU - Mansour, Sahar

AU - Maruani, Anna

AU - Mattina, Teresa

AU - Matulevičienė, Aušra

AU - Nevado, Julián

AU - Parker, Susanne

AU - Robert, Sandra

AU - Sala, Carlo

AU - San josé cáceres, Antonia

AU - Schön, Michael

AU - Šiaurytė, Kamilė

AU - Stemkens, Daphne

AU - Stiefsohn, Dominique

AU - Swillen, Ann

AU - Tabet, Anne c.

AU - Toro, Roberto

AU - Turner, Alison

AU - Van balkom, Ingrid d.c.

AU - Van buggenhout, Griet

AU - Van eeghen, Agnies m.

AU - Van ravenswaaij-Arts, Conny m.a.

AU - Van weering, Sabrina

AU - Verpelli, Chiara

AU - Vignes, Stephane

AU - Vogels, Annick

AU - Vyshka, Klea

AU - Walinga, Margreet

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.

UR - http://www.scopus.com/inward/record.url?scp=85162852499&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2023.104747

DO - 10.1016/j.ejmg.2023.104747

M3 - Article

SN - 1769-7212

VL - 66

SP - 104747

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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