Intellectual disabilities

French national reference center for intellectual disabilities of rare causes

The Necker site of the reference center for intellectual disabilities of rare causes is one of the two pediatric sites of this network.

It brings together the medical teams from the genetics, neuropediatrics and child psychiatry departments, whose clinical skills are recognized in the field of intellectual disability and neurodevelopment. It is based on the unit of molecular genetics, the unit of cytogenetics, pediatric radiology and specialized biochemistry.

It works in close collaboration with the research teams of the Imagine Institute, and more particularly that of Dr. Vincent Cantagrel (Inserm Unit 1163, Imagine Institute).

The areas of expertise of the center are diagnosis, genetic counseling and prenatal diagnosis and care.

Logo DefiscienceThis reference center is affiliated with the DEFISCIENCE rare diseases healthcare network and theLogo-ERN-ITHACA ITHACA European reference network (ERN).          

Bandeau vidéo consultation génétique

Medical
team

Marlene Rio

Dr Marlène Rio
MD, PhD

Contact us
 

Phone. 01 44 38 15 07

> Send an email

> Schedule an appointment online

Recommendations : The presence of both parents is desirable. Bring medical letters, test results and imaging documents to the consultation.

In case of emergency

The CRMR is dedicated to all patients and their families, children and adults, who have an isolated or associated intellectual disability, with or without an identified etiological cause.

Intellectual disability is the calling sign of a group of rare and even very rare diseases, the vast majority of which have a genetical origin. Apart from certain entities or certain syndromes or groups of pathologies which are somewhat specifics, or more frequents, the extreme phenotypic and genetic heterogeneity of intellectual disabilities makes it impossible to do an exhaustive list. It is currently estimated between 600 and 800 the number of genes responsible for neurodevelopmental disorders of genetic origin, and several new genes are published each month. Some genes have only been described in a very small number of patients or families.

En savoir +

Marlene Rio

Dr Marlène Rio
Head of the reference center, geneticist
MD, PhD

Photo Dr Thomas Courtin

Dr Thomas Courtin
Geneticist
MD

Isabelle Desguerre Maladies neuromusculaires

Pr Isabelle Desguerre
Pediatric neurologist
MD, PhD

photo-identite-femme magec2

Pr Pauline Chaste
Child psychiatrist
MD, PhD

photo-identite-femme magec2

Dr Lisa Ouss
Child psychiatrist
MD, PhD

Anne Claire Mazery Anomalie développement Necker

Anne-Claire Mazery-de Vergnette
Psychologist

Evandelia Valladier

Evandelia Vallandier
psychologist

photo-identite-femme magec2

Bénédicte Grandjacques
neuropsychologist

Odile Weeger

Odile Weeger
secretary

photo-identite-femme magec2

Sandra Lecerf
social worker

2021

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi D Metodiev, Benedetta Ruzzenente
Eur J Hum Genet, 2021 Mar, PMID: 33168986 PMCID: PMC7940479 DOI: 10.1038/s41431-020-00757-x

The Computerized Adaptable Test Battery (BMT- i) for Rapid Assessment of Children »s Academic Skills and Cognitive Functions: A Validation Study.
Catherine Billard, Eric Thiébaut, Sahawanatou Gassama, Monique Touzin, Jean-Christophe Thalabard, Anne Mirassou, Arnold Munnich
Front Pediatr, 2021 Jul 8, PMID: 34307248 PMCID: PMC8295558 DOI: 10.3389/fped.2021.656180

OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Stephanie Gobin-Limballe, Chris Ottolenghi, Fabien Reyal, Jean-Baptiste Arnoux, Maryse Magen, Marie Simon, Anaïs Brassier, Fabienne Jabot-Hanin, Pascale De Lonlay, Clement Pontoizeau, Manel Guirat, Marlene Rio, Roselyne Gesny, Nadine Gigarel, Ghislaine Royer, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont
J Inherit Metab Dis, 2021 Sep, PMID: 34014569 DOI: 10.1002/jimd.12404

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.
Francisco Requena, Hamza Hadj Abdallah, Alejandro García, Patrick Nitschké, Sergi Romana, Valérie Malan, Antonio Rausell
Nucleic Acids Res, 2021 Jul 2, PMID: 34019647 PMCID: PMC8262689 DOI: 10.1093/nar/gkab347

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.
M-T Dangles, V Malan, G Dumas, S Romana, O Raoul, D Coste-Zeitoun, C Soufflet, P Vignolo-Diard, N Bahi-Buisson, C Barnérias, N Chemaly, I Desguerre, C Gitiaux, M Hully, M Bourgeois, A Guimier, M Rio, A Munnich, R Nabbout, A Kaminska, M Eisermann
Clin Neurophysiol, 2021 May, PMID: 33773177 DOI: 10.1016/j.clinph.2021.02.010

Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
Guillaume Velasco, Damien Ulveling, Sophie Rondeau, Pauline Marzin, Motoko Unoki, Valérie Cormier-Daire, Claire Francastel
Int J Mol Sci, 2021 Apr 3, PMID: 33916664 PMCID: PMC8038329 DOI: 10.3390/ijms22073735

External Validation of BMT-i Computerized Test Battery for Diagnosis of Learning Disabilities.
Catherine Billard, Camille Jung, Arnold Munnich, Sahawanatou Gassama, Monique Touzin, Anne Mirassou, Thiébaut-Noël Willig
Front Pediatr, 2021 Oct 1, PMID: 34660490 PMCID: PMC8517505 DOI: 10.3389/fped.2021.733713

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza et al.
Nat Commun, 2021 May 7, PMID: 33963192 PMCID: PMC8105379 DOI: 10.1038/s41467-021-22627-w

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Anne Schänzer, Melanie T Achleitner, Dietrich Trümbach, Laurence Hubert, Arnold Munnich, Barbara Ahlemeyer, Maha M AlAbdulrahim, Philipp A Greif, Sebastian Vosberg, Blake Hummer, René G Feichtinger, Johannes A Mayr, Saskia B Wortmann, Heidi Aichner, Sabine Rudnik-Schöneborn, Anna Ruiz, Elisabeth Gabau, Jacobo Pérez Sánchez, Sian Ellard, Tessa Homfray, Karen L Stals, Wolfgang Wurst, Bernd A Neubauer, Till Acker, Stefan K Bohlander, Cédric Asensio, Claude Besmond, Fowzan S Alkuraya, Moenaldeen D AlSayed, Andreas Hahn, Axel Weber
Ann Neurol, 2021 Jul, PMID: 33999436 PMCID: PMC8351430 DOI: 10.1002/ana.26127

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Groupe DI France; Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christèle Dubourg, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet, Frederic Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel Mannens, Peter Henneman, Raoul C Hennekam, Guillaume Velasco et al.
Am J Hum Genet, 2020 Mar 5, PMID: 32109418 PMCID: PMC7058829 DOI: 10.1016/j.ajhg.2020.01.019

2020

Behavior and interaction imaging at 9 months of age predict autism/intellectual disability in high-risk infants with West syndrome.
Lisa Ouss, Giuseppe Palestra, Catherine Saint-Georges, Marluce Leitgel Gille, Mohamed Afshar, Hugues Pellerin, Kevin Bailly, Mohamed Chetouani, Laurence Robel, Bernard Golse, Rima Nabbout, Isabelle Desguerre, Mariana Guergova-Kuras, David Cohen
Transl Psychiatry, 2020 Feb 3, PMID: 32066713 PMCID: PMC7026100 DOI: 10.1038/s41398-020-0743-8

Unraveling the etiological complexity of autism spectrum disorders.
Arnold Munnich
Dev Med Child Neurol, 2020 Apr, PMID: 32124985 DOI: 10.1111/dmcn.14455

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Claire Bar,Giulia Barcia,Mélanie Jennesson,Gwenaël Le Guyader,Amy Schneider,Cyril Mignot,Gaetan Lesca,Delphine Breuillard,Martino Montomoli,Boris Keren,Diane Doummar,Thierry Billette de Villemeur,Alexandra Afenjar,Isabelle Marey,Marion Gerard,Hervé Isnard,Alice Poisson,Sophie Dupont,Patrick Berquin,Pierre Meyer,David Genevieve,Anne De Saint Martin,Salima El Chehadeh,Jamel Chelly,Agnès Guët,Emmanuel Scalais,Nathalie Dorison,Candace T. Myers,Heather C. Mefford,Katherine B. Howell,Carla Marini,Jeremy L. Freeman,Anca Nica,Gaetano Terrone,Tayeb Sekhara,Anne-Sophie Lebre,Sylvie Odent,Lynette G. Sadleir,Arnold Munnich,Renzo Guerrini,Ingrid E. Scheffer,Edor Kabashi,Rima Nabbout
Hum Mutat, 2020 Jan, PMID: 31513310 DOI: 10.1002/humu.23915

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Giulia Barcia,Marlène Rio,Zahra Assouline,Coralie Zangarelli,Naig Gueguen,Valerie D. Dumas,Pascale Marcorelles,Manuel Schiff,Abdelhamid Slama,Magalie Barth,Marie Hully,Pascale de Lonlay,Arnold Munnich,Isabelle Desguerre,Jean-Paul Bonnefont,Julie Steffann,Vincent Procaccio,Nathalie Boddaert,Agnès Rötig,Metodi D. Metodiev,Benedetta Ruzzenente
Hum Mutat, 2020 Feb, PMID: 31680380 DOI: 10.1002/humu.23937

Comment on: Monogenic mimics of Behçet »s disease in the young.
Florence A Aeschlimann, Marie-Claude Stolzenberg, Frédéric Rieux-Laucat, Marta Bustaffa, Pierre Quartier, Stanislas Lyonnet, Serge Romana, Brigitte Bader-Meunier
Rheumatology (Oxford), 2020 Nov 1, PMID: 31725163 DOI: 10.1093/rheumatology/kez543

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
Francis Ramond,Marlène Rio,Bénédicte Héron,Apolline Imbard,Sandrine Marie,Kareen Billiemaz,Anne-Sophie Denommé-Pichon,Paul Kuentz,Irène Ceballos,Monique Piraud,Marie-Françoise Vincent,Renaud Touraine.
J Inherit Metab Dis, 2020 Nov, PMID: 32557644 DOI: 10.1002/jimd.12274

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Claire Bar,Mathieu Kuchenbuch,Giulia Barcia,Amy Schneider,Mélanie Jennesson,Gwenaël Le Guyader,Gaetan Lesca,Cyril Mignot,Martino Montomoli,Elena Parrini,Hervé Isnard,Anne Rolland,Boris Keren,Alexandra Afenjar,Nathalie Dorison,Lynette G. Sadleir,Delphine Breuillard,Raphael Levy,Marlène Rio,Sophie Dupont,Susanna Negrin,Alberto Danieli,Emmanuel Scalais,Anne De Saint Martin,Salima El Chehadeh,Jamel Chelly,Alice Poisson,Anne-Sophie Lebre,Anca Nica,Sylvie Odent,Tayeb Sekhara,Vesna Brankovic,Alice Goldenberg,Pascal Vrielynck,Damien Lederer,Hélène Maurey,Gaetano Terrone,Claude Besmond,Laurence Hubert,Patrick Berquin,Thierry Billette de Villemeur,Bertrand Isidor,Jeremy L. Freeman,Heather C. Mefford,Candace T. Myers,Katherine B. Howell,Andrés Rodríguez-Sacristán Cascajo,Pierre Meyer,David Genevieve,Agnès Guët,Diane Doummar,Julien Durigneux,Marieke F. van Dooren,Marie Claire Y. de Wit,Marion Gerard,Isabelle Marey,Arnold Munnich,Renzo Guerrini,Ingrid E. Scheffer,Edor Kabashi,Rima Nabbout
Epilepsia, 2020 Nov, PMID: 32954514 DOI: 10.1111/epi.16679

Psychologist

  • Anne-Claire Mazery-de Vergnette – Phone. +33 (0)1 44 49 51 27 – > Send an email

Social worker

Secretary

Contact information

Necker-Enfants malades university hospital
> Clinical genetics department

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

In Necker, the reference center for intellectual disabilities of rare causes in brief 

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patients followed at least once a year*
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medical consultations*
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day hospitalizations*
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fully hospitalized patients*
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current research projects*
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university courses*
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publications*
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teleconsultation procedures*

* data valid for 2022