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Prise en charge pédopsychiatrique des patients présentant un syndrome microdélétionnel 22q11.2 : du soin à la prévention
Institution:1. Service de psychothérapie de l’enfant et de l’adolescent, hôpital Robert-Debré, CHU de Reims, avenue du Général-Koenig, 51100 Reims, France;2. Service de psychiatrie de l’enfant et de l’adolescent, hôpital Necker–Enfants-Malades, 149-162, rue de Sèvres, 75015 Paris, France;3. Département de génétique clinique, hôpital Necker–Enfants-Malades, AP–HP, 75015 Paris, France;4. UMR 1163, institut Imagine, université Paris-Descartes, Sorbonne Paris-Cité, 75015 Paris, France;5. CESP, USPC, Inserm U1178, université Paris-Descartes, 94800 Villejuif, France;6. PCPP, université Paris-Descartes, Sorbonne Paris-Cité, 92100 Boulogne-Billancourt, France;1. Département de psychiatrie de l’enfant et de l’adolescent, hôpital Pitié-Salpêtrière, AP–HP, Paris, France;2. Sorbonne université, institut des systèmes intelligents et de robotique, CNRS UMR 7222, Paris, France;3. Laboratoire CHArt-THIM, EA4004, université Paris 8, 93000 Saint-Denis, France;1. Service gynécologie obstétrique, CRHU Carémeau–Nîmes, place du Pr-Robert-Debré, 30029 Nîmes cedex 9, France;2. Service d’imagerie pédiatrique, CRHU Arnaud-de-Villeneuve–Montpellier, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France;3. Service de génétique clinique, CRHU Arnaud-de-Villeneuve–Montpellier, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France;1. Department of Child and Adolescent Psychiatry, University Hospital Pitié-Salpêtrière, 47-83, boulevard de l’Hôpital, 75013 Paris, France;2. Department of Child and Adolescent Psychiatry, University Hospital Charles-Nicolle, University of Normandie, 76000 Rouen, France;1. Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Switzerland;2. Department of Genetic Medicine and Development, University of Geneva School of Medicine, Switzerland;3. Department of Radiology and Medical Informatics, University of Geneva, Switzerland;4. Institute of Bioengineering, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland;5. Center for Contextual Psychiatry, Research Group Psychiatry, Department of Neuroscience, KU Leuven, Leuven, Belgium;6. Stanford Cognitive and Systems Neuroscience Laboratory, Stanford University School of Medicine, Stanford, California;1. Sackler Faculty of Medicine, Tel Aviv University, Israel;2. Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA;3. Department of Child and Adolescent Psychiatry, Children?s Hospital of Philadelphia, Philadelphia, PA, USA;4. Division of Human Genetics, The Children?s Hospital of Philadelphia, Philadelphia, PA, USA;5. Department of Pediatrics, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA;6. Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel;7. Research Unit, Geha Mental Health Center, Petah Tikva, Israel;8. The Child Psychiatry Unit, Edmond and Lily Sapfra Children?s Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
Abstract:22q11.2DS is one of the more frequent genetic syndromes associated to psychiatric symptoms. It has been associated to an increased risk to develop schizophrenia in adolescence or early adulthood. However, psychiatric symptoms appear early on, and should be recognized as soon as possible by child psychiatrists in order to improve the present well-being of children and their family, and to prevent further risks of developing severe and chronic psychiatric diseases later on. In this paper, we present a review of the recent literature concerning the 22q11.2DS syndrome focused on the risk factors that may be associated to an increased risk of psychotic transition. We advocate for the development of systematic specialized child psychiatry consultations for these patients, included in networks with geneticists, adult psychiatrists, and family associations, in order to improve their psychiatric prognosis and to support the development of translational research.
Keywords:22q11  2DS  Psychiatric phenotypes  Psychotic transition  Child psychiatry  Prevention
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