ArticleMolecular genetics & genomic medicine2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
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Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
2.8field-weighted citation impact, top 11% of its field
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC).Journal of medical genetics · 2026Article
- DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.European journal of human genetics : EJHG · 2025Article
- Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review.Journal of neurodevelopmental disorders · 2025Review
- First Diagnostic Questionnaire for Assessing Patients' Social Functioning: Comprehensive DDX3X Syndrome Patient Profile.Journal of clinical medicine · 2024Article
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.Molecular genetics & genomic medicine · 2024Article
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Authors and funding
87 authors at 19 institutions in 6 countries.
Valentin RuaultGenetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.ORCID https://orcid.org/0000-0003-0562-1706
Pauline BurgerInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
Johanna Gradels-HauguelCenter for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.
Nathalie RuizGenetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.
XtraordinaireXtraordinaire Association, Paris, France.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Alexandra AfenjarDépartement de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France.
Yves AlembikService de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Jean-Luc AlessandriCHU La Réunion, Service de génétique, Saint Denis, France.
Stéphanie ArpinGenetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France.
Giulia BarciaService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Šárka BendováDepartment of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Ange-Line BruelUnité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.ORCID https://orcid.org/0000-0002-0526-465X
Perrine CharlesAPHP La Pitié Salpétrière, Paris, France.
Nicolas ChatronDepartment of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.ORCID https://orcid.org/0000-0003-0538-0981
Maya ChopraDepartment of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.
Solène ConradGenetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Valérie Cormier DaireService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Auriane CospainGenetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.ORCID https://orcid.org/0000-0002-0007-4195
Christine CoubesGenetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.
Juliette CoursimaultDepartment of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Andrée Delahaye-DuriezMedical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.
Martine DocoGenetic Department, CHU Nantes, Service de Génétique, Nantes, France.
William DufourDepartment of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.
Benjamin DurandService de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Camille EngelOncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France.
Laurence FaivreUnité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.ORCID https://orcid.org/0000-0001-9770-444X
Fanny FerroulCHU La Réunion, Service de génétique, Saint Denis, France.
Mélanie FradinGenetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.
Hélène FrenkielXtraordinaire Association, Paris, France.ORCID https://orcid.org/0009-0008-7648-4220
Carlo FuscoChild Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Livia GaravelliMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Aurore GardeUnité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Bénédicte GerardService de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
David GermanaudGenetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.
Louise GoujonGenetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.ORCID https://orcid.org/0000-0003-2361-9909
Aurélie GouroncService de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Emmanuelle GinglingerGénétique médicale GHRMSA, Hopital Emile Muller, Mulhouse, France.
Alice GoldenbergDepartment of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Miroslava HancarovaDepartment of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.ORCID https://orcid.org/0000-0001-6772-8862
Markéta HavlovicováDepartment of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Delphine HeronAPHP Trousseau, Paris, France.
Bertrand IsidorGenetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Nolwenn Jean MarçaisGenetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.
Boris KerenDépartement de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France.
Margarete Koch-HogrebeInstitute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Paul KuentzUFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHUTRANSLAD, Dijon, France.ORCID https://orcid.org/0000-0003-2814-6303
Victoria LamureGenetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.
Anne-Sophie LebreCentre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.
François LecoquierreDepartment of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Natacha LehmanGenetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.ORCID https://orcid.org/0000-0002-3773-672X
Gaetan LescaDepartment of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.
Stanislas LyonnetService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Delphine MartinXtraordinaire Association, Paris, France.
Cyril MignotDépartement de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France.
Teresa M NeuhannGenetic Department, Medizinisch Genetisches Zentrum, Munich, Germany.
Gaël NicolasDepartment of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Mathilde NizonGenetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Florence PetitGenetic Department, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
Christophe PhilippeUnité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Amélie PitonService de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Marzia PollazzonMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Darina PrchalováDepartment of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Audrey PutouxDepartment of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.
Marlène RioService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Sophie RondeauService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Massimiliano RossiDepartment of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.ORCID https://orcid.org/0000-0002-5797-8152
Quentin SabbaghGenetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.
Pascale Saugier-VeberDepartment of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Ariane SchmetzInstitute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.ORCID https://orcid.org/0000-0001-8220-7854
Julie SteffannService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Christel Thauvin-RobinetUnité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Annick ToutainGenetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France.
Frederic Tran Mau ThemUnité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.ORCID https://orcid.org/0000-0002-3795-9456
Gabriele TrimarchiMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Marie VincentGenetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Markéta VlčkováDepartment of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.ORCID https://orcid.org/0000-0002-1496-392X
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Marjolaine WillemsGenetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.ORCID https://orcid.org/0000-0002-2959-0935
Kevin YauyGenetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.
Michaela ZelinováDepartment of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Alban ZieglerGenetic Department, Service de Génétique, CHU d'Angers, Angers Cedex 9, France.ORCID https://orcid.org/0000-0003-0287-3561
GENIDA ProjectInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
Boris ChaumetteCenter for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.
Jean-Louis MandelInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
David GenevièveGenetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.
Inserm · FRUniversité Claude Bernard Lyon 1 · FRHôpital Necker-Enfants Malades · FRSorbonne Université · FRCharles University · CZAzienda Sanitaria Unità Locale di Reggio Emilia · ITUniversité de Tours · FRCentre Hospitalier Universitaire de La Réunion · FRCentre National de la Recherche Scientifique · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRHôpital d'Enfants · FRHôpitaux Universitaires de Strasbourg · FRWestern University · CAAssistance Publique – Hôpitaux de Paris · FRBoston Children's Hospital · USCentre Hospitalier de Saint-Brieuc · FRCentre Hospitalier Universitaire de Lille · FRInstitut de génétique et de développement de Rennes · FRLeipzig University · DE
Funding
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4MCHU de Dijon BourgogneFondation Bettencourt SchuellerGenome Canada Genomic Applications Partnership Program GrantLondon Health Sciences Molecular Diagnostics Innovation and Development FundMinistère des Affaires Sociales et de la SantéNICHD NIH HHS P50 HD105351NU22-07-00165 from the Ministry of Health of the Czech Republic
Abstract
INTRODUCTION AND
methodsWe report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.
resultsThese two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both series identified early childhood symptoms that were not previously described: feeding difficulties, mean walking age, and age at first words. DISCUSSION: Each of the two datasets provides complementary knowledge. We confirmed that symptoms are similar to those in the literature and provides more details on feeding difficulties. Caregivers considered that the symptom attention-deficit/hyperactivity disorder were most worrisome. Both series also reported sleep disturbance. Recently, anxiety has been reported in individuals with DDX3X variants. We strongly suggest that attention-deficit/hyperactivity disorder, anxiety, and sleep disorders need to be treated.
Indexed as
Attention Deficit Disorder with HyperactivityCaregiversChild, PreschoolDEAD-box RNA HelicasesHumansInfantSelf ReportDDX3X protein, humanDEAD-box RNA HelicasesADHDcaregiversDDX3Xdevelopmental milestones
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