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

A M van Eeghen¹, D Stemkens², José Ramón Fernández-Fructuoso³, A Maruani⁴, K Hadzsiev⁵; ERN ITHACA Guideline Working Group⁶; European Phelan-McDermid syndrome guideline consortium⁷; I D C van Balkom⁸

Collaborators, Affiliations

Collaborators

C M W Gaasterland⁹, Klein Haneveld M J⁹, Klea Vyshka, A Hugon, A M van Eeghen¹⁰, Norma Alhambra¹¹, Britt-Marie Anderlid¹², Stephanie Andres¹³, Emmelien Aten¹⁴, Rui Barbosa Guedes¹⁵, Maria C Bonaglia¹⁶, Thomas Bourgeron¹⁷, Monica Burdeus-Olavarrieta¹⁸, Maya J Carbin¹⁹, Jennifer Cooke²⁰, Robert J Damstra²¹, Irenaeus F M de Coo²², Stella Di Domenico²³, D Gareth Evans²⁴, José Ramón Fernández-Fructuoso²⁵, Andreas M Grabrucker²⁶, Cecilia Gunnarson²⁷, Kinga Hadzsiev⁵, Raoul C Hennekam²⁸, Sarah Jesse²⁹, Sarina G Kant³⁰, Sylvia A Koza³¹, Els Kuiper¹⁹, Annemiek M Landlust³², Pablo Lapunzina³³, Eva Loth³⁴, Sahar Mansour³⁵, Anna Maruani³⁶, Teresa Mattina³⁷, Aušra Matulevičienė³⁸, Julián Nevado³³, Susanne Parker³⁹, Sandra Robert⁴⁰, Carlo Sala⁴¹, Antonia San José Cáceres⁴², Michael Schön⁴³, Kamilė Šiaurytė³⁸, Daphne Stemkens², Dominique Stiefsohn⁴⁴, Ann Swillen⁴⁵, Anne C Tabet⁴⁶, Roberto Toro⁴⁷, Alison Turner⁴⁸, Ingrid D C van Balkom⁸, Griet van Buggenhout⁴⁹, Agnies M van Eeghen⁵⁰, Conny M A van Ravenswaaij-Arts⁵¹, Sabrina van Weering⁵², Chiara Verpelli⁴¹, Stephane Vignes⁵³, Annick Vogels⁵⁴, Klea Vyshka⁵⁵, Margreet Walinga³¹

Affiliations

¹ 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.nl.
² VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands.
³ Hospital General Universitario Santa Lucía, Cartagena, Spain.
⁴ Excellence 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.
⁵ Department of Medical Genetics, Medical School, University of Pécs, Pécs, Hungary.
⁶ European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Paris, France.
⁷ European Phelan-McDermid Syndrome Consortium (Coordinated by Conny van Ravenswaaij-Arts), University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
⁸ Jonx, 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.
⁹ Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
¹⁰ Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Advisium, 's Heeren Loo, Amersfoort, the Netherlands.
¹¹ Phelan-McDermid Association, Spain.
¹² Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
¹³ Medicover München Ost MVZ, Humangenetik, Munich, Germany.
¹⁴ Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
¹⁵ Phelan-Mcdermid Association (Associação Síndrome Phelan-Mcdermid), Lisbon, Portugal.
¹⁶ Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. Electronic address: clara.bonaglia@bp.lnf.it.
¹⁷ Human Genetics and Cognitive Functions, Institut Pasteur, IUF, UMR3571 CNRS, Université de Paris Cité, 75015, Paris, France.
¹⁸ Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, IiSGM, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain; School of Psychology, Universidad Autónoma, Madrid, Spain.
¹⁹ Phelan-McDermid Association, the Netherlands.
²⁰ Forensic and Neurodevelopmental Sciences Department, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, United Kingdom.
²¹ VASCERN PPL European Reference Centre: Expert Center for Lymphovascular Medicine, Nij Smellinghe Hospital, Drachten, the Netherlands.
²² Department of Toxicogenomics, Unit Clinical Genomics, Maastricht University, MHeNs School for Mental Health and Neuroscience, Maastricht, the Netherlands.
²³ Uniphelan association Syndrome Phelan McDermid, Italy.
²⁴ Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
²⁵ Department of Pediatrics, Neonatology Unit. Hospital General Universitario Santa Lucía, Cartagena, Spain.
²⁶ Bernal Institute, University of Limerick, Limerick, Ireland; Dept. of Biological Sciences, University of Limerick, Limerick, Ireland; Health Research Institute (HRI), University of Limerick, Limerick, Ireland.
²⁷ Department of Clinical Genetics, Linköping University, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Centre for Rare Diseases in South East Region of Sweden, Linköping University, Linköping, Sweden.
²⁸ ERN ITHACA Guideline Working Group; Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, the Netherlands.
²⁹ University of Ulm, Department of Neurology, Ulm, Germany.
³⁰ Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
³¹ University of Groningen, University Medical Centre Groningen, Dept. Genetics, Groningen, the Netherlands.
³² Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
³³ Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain.
³⁴ Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK.
³⁵ SW Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK; St George's University of London, UK.
³⁶ Excellence 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.
³⁷ Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy; Scientific Foundation and Clinic G.B. Morgagni, Catania, Italy.
³⁸ Dept. of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
³⁹ (German Representative of) Phelan-McDermid-Gesellschaft e.V. Geschäftsstelle Universitätsklinikum Ulm, Sekretariat Neurologie, Oberer Eselsberg 45, 89081, Ulm, Germany.
⁴⁰ (Swiss Representative of) Phelan-McDermid-Gesellschaft e.V. Geschäftsstelle Universitätsklinikum Ulm, Sekretariat Neurologie, Oberer Eselsberg 45, 89081, Ulm, Germany.
⁴¹ CNR Neuroscience Institute, Milano, Italy.
⁴² Instituto de Investigación Sanitaria Gregorio Marañón, Departamento de Psiquiatría del Niño y del Adolescente, Hospital General Universitario Gregorio Marañón, Madrid, Spain; Centro de Investigación Biomédica en Red Salud Mental (CIBERSAM) and Instituto de Salud Carlos III, Universidad Complutense de Madrid, Spain.
⁴³ Institute for Anatomy and Cell Biology, Ulm University, Germany.
⁴⁴ (Austrian Representative of) Phelan-McDermid-Gesellschaft e.V. Geschäftsstelle Universitätsklinikum Ulm, Sekretariat Neurologie, Oberer Eselsberg 45, 89081, Ulm, Germany.
⁴⁵ Center for Human Genetics, University Hospital Leuven, KU Leuven, Herestraat 49, 3000, Leuven, Belgium; Department of Human Genetics, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
⁴⁶ Cytogenetic Unit, Genetic Department, Robert Debré Hospital, Paris, France; Human Genetic and Cognitive Function, Pasteur Institute, Paris, France.
⁴⁷ Patient Representative, France.
⁴⁸ Phelan-McDermid Syndrome Foundation UK, 99 Highgate W Hill, London, N6 6NR, United Kingdom.
⁴⁹ Department of Human Genetics, University Hospital Leuven, Belgium.
⁵⁰ ERN ITHACA Guideline Working Group; Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Advisium, 's Heeren Loo, Amersfoort, the Netherlands.
⁵¹ University of Groningen, University Medical Centre Groningen, Dept. Genetics, Groningen, the Netherlands; Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.
⁵² Beatrixoord Children's Rehabilitation, University Medical Center Groningen (UMCG), the Netherlands.
⁵³ VASCERN PPL European Reference Centre: French Reference Center Rare Vascular Diseases, Department of Lymphology, AP-HP, HEGP Hôpital Européen Georges Pompidou, Paris, France.
⁵⁴ Centre for Human Genetics, University Hospital of Leuven, Leuven, Belgium.
⁵⁵ ERN ITHACA Guideline Working Group; ERN ITHACA Project Management & Legal Office, Paris, France; Clinical Genetics Department, Robert Debré University Hospital, Paris, France.

PMID: 37003574
DOI: 10.1016/j.ejmg.2023.104747

Free article

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

A M van Eeghen et al. Eur J Med Genet. 2023 Jul.

Free article

. 2023 Jul;66(7):104747.

doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30.

Authors

Collaborators

C M W Gaasterland⁹, Klein Haneveld M J⁹, Klea Vyshka, A Hugon, A M van Eeghen¹⁰, Norma Alhambra¹¹, Britt-Marie Anderlid¹², Stephanie Andres¹³, Emmelien Aten¹⁴, Rui Barbosa Guedes¹⁵, Maria C Bonaglia¹⁶, Thomas Bourgeron¹⁷, Monica Burdeus-Olavarrieta¹⁸, Maya J Carbin¹⁹, Jennifer Cooke²⁰, Robert J Damstra²¹, Irenaeus F M de Coo²², Stella Di Domenico²³, D Gareth Evans²⁴, José Ramón Fernández-Fructuoso²⁵, Andreas M Grabrucker²⁶, Cecilia Gunnarson²⁷, Kinga Hadzsiev⁵, Raoul C Hennekam²⁸, Sarah Jesse²⁹, Sarina G Kant³⁰, Sylvia A Koza³¹, Els Kuiper¹⁹, Annemiek M Landlust³², Pablo Lapunzina³³, Eva Loth³⁴, Sahar Mansour³⁵, Anna Maruani³⁶, Teresa Mattina³⁷, Aušra Matulevičienė³⁸, Julián Nevado³³, Susanne Parker³⁹, Sandra Robert⁴⁰, Carlo Sala⁴¹, Antonia San José Cáceres⁴², Michael Schön⁴³, Kamilė Šiaurytė³⁸, Daphne Stemkens², Dominique Stiefsohn⁴⁴, Ann Swillen⁴⁵, Anne C Tabet⁴⁶, Roberto Toro⁴⁷, Alison Turner⁴⁸, Ingrid D C van Balkom⁸, Griet van Buggenhout⁴⁹, Agnies M van Eeghen⁵⁰, Conny M A van Ravenswaaij-Arts⁵¹, Sabrina van Weering⁵², Chiara Verpelli⁴¹, Stephane Vignes⁵³, Annick Vogels⁵⁴, Klea Vyshka⁵⁵, Margreet Walinga³¹

Affiliations

¹ 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.nl.
² VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands.
³ Hospital General Universitario Santa Lucía, Cartagena, Spain.
⁴ Excellence 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.
⁵ Department of Medical Genetics, Medical School, University of Pécs, Pécs, Hungary.
⁶ European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Paris, France.
⁷ European Phelan-McDermid Syndrome Consortium (Coordinated by Conny van Ravenswaaij-Arts), University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
⁸ Jonx, 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.
⁹ Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
¹⁰ Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Advisium, 's Heeren Loo, Amersfoort, the Netherlands.
¹¹ Phelan-McDermid Association, Spain.
¹² Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
¹³ Medicover München Ost MVZ, Humangenetik, Munich, Germany.
¹⁴ Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
¹⁵ Phelan-Mcdermid Association (Associação Síndrome Phelan-Mcdermid), Lisbon, Portugal.
¹⁶ Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. Electronic address: clara.bonaglia@bp.lnf.it.
¹⁷ Human Genetics and Cognitive Functions, Institut Pasteur, IUF, UMR3571 CNRS, Université de Paris Cité, 75015, Paris, France.
¹⁸ Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, IiSGM, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain; School of Psychology, Universidad Autónoma, Madrid, Spain.
¹⁹ Phelan-McDermid Association, the Netherlands.
²⁰ Forensic and Neurodevelopmental Sciences Department, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, United Kingdom.
²¹ VASCERN PPL European Reference Centre: Expert Center for Lymphovascular Medicine, Nij Smellinghe Hospital, Drachten, the Netherlands.
²² Department of Toxicogenomics, Unit Clinical Genomics, Maastricht University, MHeNs School for Mental Health and Neuroscience, Maastricht, the Netherlands.
²³ Uniphelan association Syndrome Phelan McDermid, Italy.
²⁴ Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
²⁵ Department of Pediatrics, Neonatology Unit. Hospital General Universitario Santa Lucía, Cartagena, Spain.
²⁶ Bernal Institute, University of Limerick, Limerick, Ireland; Dept. of Biological Sciences, University of Limerick, Limerick, Ireland; Health Research Institute (HRI), University of Limerick, Limerick, Ireland.
²⁷ Department of Clinical Genetics, Linköping University, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Centre for Rare Diseases in South East Region of Sweden, Linköping University, Linköping, Sweden.
²⁸ ERN ITHACA Guideline Working Group; Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, the Netherlands.
²⁹ University of Ulm, Department of Neurology, Ulm, Germany.
³⁰ Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
³¹ University of Groningen, University Medical Centre Groningen, Dept. Genetics, Groningen, the Netherlands.
³² Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
³³ Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain.
³⁴ Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK.
³⁵ SW Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK; St George's University of London, UK.
³⁶ Excellence 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.
³⁷ Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy; Scientific Foundation and Clinic G.B. Morgagni, Catania, Italy.
³⁸ Dept. of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
³⁹ (German Representative of) Phelan-McDermid-Gesellschaft e.V. Geschäftsstelle Universitätsklinikum Ulm, Sekretariat Neurologie, Oberer Eselsberg 45, 89081, Ulm, Germany.
⁴⁰ (Swiss Representative of) Phelan-McDermid-Gesellschaft e.V. Geschäftsstelle Universitätsklinikum Ulm, Sekretariat Neurologie, Oberer Eselsberg 45, 89081, Ulm, Germany.
⁴¹ CNR Neuroscience Institute, Milano, Italy.
⁴² Instituto de Investigación Sanitaria Gregorio Marañón, Departamento de Psiquiatría del Niño y del Adolescente, Hospital General Universitario Gregorio Marañón, Madrid, Spain; Centro de Investigación Biomédica en Red Salud Mental (CIBERSAM) and Instituto de Salud Carlos III, Universidad Complutense de Madrid, Spain.
⁴³ Institute for Anatomy and Cell Biology, Ulm University, Germany.
⁴⁴ (Austrian Representative of) Phelan-McDermid-Gesellschaft e.V. Geschäftsstelle Universitätsklinikum Ulm, Sekretariat Neurologie, Oberer Eselsberg 45, 89081, Ulm, Germany.
⁴⁵ Center for Human Genetics, University Hospital Leuven, KU Leuven, Herestraat 49, 3000, Leuven, Belgium; Department of Human Genetics, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
⁴⁶ Cytogenetic Unit, Genetic Department, Robert Debré Hospital, Paris, France; Human Genetic and Cognitive Function, Pasteur Institute, Paris, France.
⁴⁷ Patient Representative, France.
⁴⁸ Phelan-McDermid Syndrome Foundation UK, 99 Highgate W Hill, London, N6 6NR, United Kingdom.
⁴⁹ Department of Human Genetics, University Hospital Leuven, Belgium.
⁵⁰ ERN ITHACA Guideline Working Group; Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Advisium, 's Heeren Loo, Amersfoort, the Netherlands.
⁵¹ University of Groningen, University Medical Centre Groningen, Dept. Genetics, Groningen, the Netherlands; Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.
⁵² Beatrixoord Children's Rehabilitation, University Medical Center Groningen (UMCG), the Netherlands.
⁵³ VASCERN PPL European Reference Centre: French Reference Center Rare Vascular Diseases, Department of Lymphology, AP-HP, HEGP Hôpital Européen Georges Pompidou, Paris, France.
⁵⁴ Centre for Human Genetics, University Hospital of Leuven, Leuven, Belgium.
⁵⁵ ERN ITHACA Guideline Working Group; ERN ITHACA Project Management & Legal Office, Paris, France; Clinical Genetics Department, Robert Debré University Hospital, Paris, France.

PMID: 37003574
DOI: 10.1016/j.ejmg.2023.104747

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.

Keywords: Centre of expertise; Guideline; Intellectual disability; Organization of care; Phelan-McDermid syndrome.

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

Collaborators

Affiliations

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

Authors

Collaborators

Affiliations

Abstract

MeSH terms

Supplementary concepts

LinkOut - more resources

Full Text Sources