Your browser doesn't support javascript.
loading
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean-Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Sárka; Bruel, Ange-Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne-Sophie; Lecoquierre, François; Lehman, Natacha.
Afiliação
  • Ruault V; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.
  • Burger P; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
  • Gradels-Hauguel J; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
  • Ruiz N; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.
  • Jamra RA; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
  • Afenjar A; Xtraordinaire Association, Paris, France.
  • Alembik Y; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Alessandri JL; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France.
  • Arpin S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Barcia G; CHU La Réunion, Service de génétique, Saint Denis, France.
  • Bendová S; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France.
  • Bruel AL; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Charles P; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Chatron N; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Chopra M; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHUTRANSLAD, Dijon, France.
  • Conrad S; APHP La Pitié Salpétrière, Paris, France.
  • Daire VC; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.
  • Cospain A; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France.
  • Coubes C; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Coursimault J; Genetic Department, Harvard Medical School, Boston, Massachusetts, USA.
  • Delahaye-Duriez A; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
  • Doco M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Dufour W; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.
  • Durand B; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.
  • Engel C; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
  • Faivre L; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
  • Ferroul F; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.
  • Fradin M; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.
  • Frenkiel H; Genetic Department, Inserm 1141 NeuroDiderot, Paris, France.
  • Fusco C; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
  • Garavelli L; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.
  • Garde A; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.
  • Gerard B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Germanaud D; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France.
  • Goujon L; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Gouronc A; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs ¼, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
  • Ginglinger E; CHU La Réunion, Service de génétique, Saint Denis, France.
  • Goldenberg A; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.
  • Hancarova M; CH Saint Brieuc, Service de Génétique, Saint Brieux, France.
  • Havlovicová M; Xtraordinaire Association, Paris, France.
  • Heron D; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Isidor B; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Marçais NJ; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Keren B; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs ¼, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
  • Koch-Hogrebe M; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Kuentz P; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.
  • Lamure V; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France.
  • Lebre AS; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.
  • Lecoquierre F; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France.
  • Lehman N; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Mol Genet Genomic Med ; 12(1): e2363, 2024 Jan.
Article em En | MEDLINE | ID: mdl-38284452
ABSTRACT
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.
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Deficit de Atenção com Hiperatividade / Cuidadores Limite: Child, preschool / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Deficit de Atenção com Hiperatividade / Cuidadores Limite: Child, preschool / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: França