INTRODUCTION AND METHODS: We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. RESULTS: These 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.

APHP La Pitié Salpétrière Paris France

APHP Trousseau Paris France

Center for Rare Psychiatric Disorders GHU Paris Psychiatrie et Neurosciences Paris France APHP GHU Sainte Anne Paris France

Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs » FHU TRANSLAD Hôpital d'Enfants CHU Dijon Dijon France

Centre Hospitalier Universitaire de Reims Pôle de Biologie Médicale et Pathologie Service de Génétique Reims France

CH Saint Brieuc Service de Génétique Saint Brieux France

Child Neurology and Psychiatry Unit Azienda USL IRCCS di Reggio Emilia Reggio Emilia Italy

CHU La Réunion Service de génétique Saint Denis France

Département de Génétique Centre de Référence Déficiences Intellectuelles de Causes Rares APHP Sorbonne Université Paris France

Département de Génétique Centre de référence Déficiences intellectuelles de causes rares Assistance publique Hopitaux de Paris Hopital Robert Debré Paris France

Département de Génétique Paris Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares APHP Sorbonne Université Paris France

Department of Biology and Medical Genetics Charles University 2nd Faculty of Medicine and University Hospital Motol Prague Czech Republic

Department of Genetics and Reference Center for Developmental Disorders University of Rouen Normandie Inserm U1245 CHU Rouen Rouen France

Department of Medical Genetics University Hospital of Lyon and Claude Bernard Lyon 1 University Lyon France

Department of Neurology Rosamund Stone Zander Translational Neuroscience Center Boston Children's Hospital Boston Massachusetts USA

Department of Pathology and Laboratory Medicine Western University London Ontario Canada

Department of Psychiatry McGill University Montreal Quebec Canada

Genetic Department CEA Paris Saclay NeuroSpin Gif sur Yvette France

Genetic Department CHU Lille Clinique de Génétique Guy Fontaine Lille France

Genetic Department CHU Nantes Service de Génétique Nantes France

Genetic Department CHU Rennes Service de Génétique CLAD Ouest CRDI Rennes France

Genetic Department Harvard Medical School Boston Massachusetts USA

Genetic Department Inserm 1141 NeuroDiderot Paris France

Genetic Department Medizinisch Genetisches Zentrum Munich Germany

Genetic Department Montpellier University INSERM Unit 1183 Montpellier France

Genetic Department Service de Génétique CHU d'Angers Angers Cedex 9 France

Genetic Department UFR SMBH Université Sorbonne Paris Nord Paris France

Genetic Department University of Strasbourg Institute for Advanced Studies Strasbourg France

Genetics Department University Hospital UMR1253 iBrain INSERM University of Tours Tours France

Génétique médicale GHRMSA Hopital Emile Muller Mulhouse France

INSERM U1028 CNRS UMR5292 Centre de Recherche en Neurosciences de Lyon GENDEV Team Université Claude Bernard Lyon 1 Bron France

Institute of Genetics and Molecular and Cellular Biology Université de Strasbourg INSERM U1258 CNRS UMR7104 Illkirch France

Institute of Human Genetics Medical Faculty University Hospital Düsseldorf Heinrich Heine University Düsseldorf Düsseldorf Germany

Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

Institute of Psychiatry and Neuroscience of Paris INSERM U1266 Université Paris Cité Paris France

Institute of Psychiatry and Neuroscience of Paris Université Paris Cité INSERM U1266 Paris France

Laboratoire Embryologie et Génétique des Malformations Université Paris Cité INSERM IHU Imagine Institut des maladies génétiques Paris France

Medical Genetics Unit Azienda USL IRCCS di Reggio Emilia Reggio Emilia Italy

Medical Genomics and Clinical Genetics Unit AP HP Hôpital Jean Verdier Bondy France

Oncobiologie Génétique Bioinformatique PC BIO CHU Besançon Besançon France

Pathophysiology and Genetics of Neuron and Muscle UCBL CNRS UMR5261 INSERM U1315 Lyon France

Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes Genetics Department Montpellier Hospital Montpellier France

Service de Génétique Médicale Institut de Génétique Médicale d'Alsace Hôpitaux Universitaires de Strasbourg Strasbourg France

Service de Médecine Génomique des Maladies Rares Hôpital Necker Enfants Malades Assistance Publique Hôpitaux de Paris Paris France

UFR Des Sciences de Santé INSERM Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement FHUTRANSLAD Dijon France

Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares CHU Dijon Bourgogne Dijon France

Verspeeten Clinical Genome Centre London Health Sciences Centre London Ontario Canada

Xtraordinaire Association Paris France

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$a Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders / $c V. Ruault, P. Burger, J. Gradels-Hauguel, N. Ruiz, Xtraordinaire, RA. Jamra, A. Afenjar, Y. Alembik, JL. Alessandri, S. Arpin, G. Barcia, Š. Bendová, AL. Bruel, P. Charles, N. Chatron, M. Chopra, S. Conrad, VC. Daire, A. Cospain, C. Coubes, J. Coursimault, A. Delahaye-Duriez, M. Doco, W. Dufour, B. Durand, C. Engel, L. Faivre, F. Ferroul, M. Fradin, H. Frenkiel, C. Fusco, L. Garavelli, A. Garde, B. Gerard, D. Germanaud, L. Goujon, A. Gouronc, E. Ginglinger, A. Goldenberg, M. Hancarova, M. Havlovicová, D. Heron, B. Isidor, NJ. Marçais, B. Keren, M. Koch-Hogrebe, P. Kuentz, V. Lamure, AS. Lebre, F. Lecoquierre, N. Lehman, G. Lesca, S. Lyonnet, D. Martin, C. Mignot, TM. Neuhann, G. Nicolas, M. Nizon, F. Petit, C. Philippe, A. Piton, M. Pollazzon, D. Prchalová, A. Putoux, M. Rio, S. Rondeau, M. Rossi, Q. Sabbagh, P. Saugier-Veber, A. Schmetz, J. Steffann, C. Thauvin-Robinet, A. Toutain, FTM. Them, G. Trimarchi, M. Vincent, M. Vlčková, D. Wieczorek, M. Willems, K. Yauy, M. Zelinová, A. Ziegler, GENIDA Project, B. Chaumette, B. Sadikovic, JL. Mandel, D. Geneviève

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$a ok $b bmc $g 2081593 $s 1217464

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$a 3

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$a PreBMC-MEDLINE

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$a 2024 $b 12 $c 1 $d e2363 $e - $i 2324-9269 $m Molecular genetics & genomic medicine $n Mol Genet Genomic Med $x MED00205675

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$p NU22-07-00165 from the Ministry of Health of the Czech Republic

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$p Fondation Bettencourt Schueller

GRA    __

$p Genome Canada Genomic Applications Partnership Program Grant

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$p CHU de Dijon Bourgogne

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$p Ministère des Affaires Sociales et de la Santé

LZP    __

$a Pubmed-20240412