Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders - Archive ouverte HAL Access content directly
Journal Articles Molecular Genetics & Genomic Medicine Year : 2024

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders

Valentin Ruault (1) , Pauline Burger (2) , Johanna Gradels-Hauguel (3) , Nathalie Ruiz (1, 4) , Rami Abou Jamra (5) , Alexandra Afenjar (6, 7) , Yves Alembik (8) , Jean‐luc Alessandri (9) , Stéphanie Arpin (10) , Giulia Barcia (11) , Šárka Bendová (12, 13) , Ange‐line Bruel (14, 15) , Perrine Charles (16) , Nicolas Chatron (17, 18) , Maya Chopra (19, 20) , Solène Conrad (21) , Valérie Cormier Daire (11) , Auriane Cospain (22) , Christine Coubes (1) , Juliette Coursimault (23) , Andrée Delahaye-Duriez (24, 25, 26) , Martine Doco (21, 27) , William Dufour (18) , Benjamin Durand (8) , Camille Engel (28) , Laurence Faivre (14, 29) , Fanny Ferroul (9) , Mélanie Fradin (30, 31) , Hélène Frenkiel , Carlo Fusco , Livia Garavelli , Aurore Garde (14, 29) , Bénédicte Gerard (8) , David Germanaud (32, 33) , Louise Goujon (32, 33) , Aurélie Gouronc (8) , Emmanuelle Ginglinger (34) , Alice Goldenberg (23) , Miroslava Hancarova (13, 12) , Markéta Havlovicová (13, 12) , Delphine Heron (35) , Bertrand Isidor (21) , Nolwenn Jean Marçais (30, 22) , Boris Keren (36, 7) , Margarete Koch-Hogrebe (37) , Paul Kuentz (29, 38) , Victoria Lamure (39) , Anne‐sophie Lebre (40, 27) , François Lecoquierre (23) , Natacha Lehman (1) , Gaetan Lesca (17) , Stanislas Lyonnet (11, 41) , Delphine Martin , Cyril Mignot (36) , Teresa M Neuhann , Gaël Nicolas (23) , Mathilde Nizon (21) , Florence Petit (42) , Christophe Philippe (14, 29) , Amélie Piton (8) , Marzia Pollazzon , Darina Prchalová (13, 12) , Audrey Putoux (18, 43) , Marlène Rio (11) , Sophie Rondeau (11) , Massimiliano Rossi (43, 44) , Quentin Sabbagh (1, 4) , Pascale Saugier-Veber (23) , Ariane Schmetz (45) , Julie Steffann (11) , Christel Thauvin-Robinet (29) , Annick Toutain (10) , Frederic Tran Mau Them (15, 14) , Gabriele Trimarchi , Marie Vincent (21) , Markéta Vlčková , Dagmar Wieczorek (45) , Marjolaine Willems (1) , Kevin Yauy (1) , Michaela Zelinová (12, 13) , Alban Ziegler (46) , Boris Chaumette (40, 47) , Bekim Sadikovic (48) , Jean‐louis Mandel (2, 49) , David Geneviève (1) , ERN Ithaca
1 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
2 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
3 GHU Paris Psychiatrie et Neurosciences
4 CHU Montpellier
5 University Hospital Leipzig = Universitätsklinikum Leipzig
6 AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP)
7 SU - Sorbonne Université
8 IGMA - Institut de génétique médicale d’Alsace
9 Service de Génétique [CHU La Réunion]
10 iBraiN - Imaging, Brain & Neuropsychiatry
11 Hôpital Necker - Enfants Malades [AP-HP]
12 University Hospital Motol [Prague]
13 UK - Univerzita Karlova [Praha, Česká republika] = Charles University [Prague, Czech Republic]
14 CHU Dijon
15 GAD - Génétique des anomalies du développement (CTM UMR 1231)
16 CHU Pitié-Salpêtrière [AP-HP]
17 PGNM - Pathophysiologie et génétique du neurone et du muscle
18 CIC CHU Lyon (inserm)
19 Boston Children's Hospital
20 HMS - Harvard Medical School [Boston]
21 CHU Nantes - Centre Hospitalier Universitaire de Nantes = Nantes University Hospital
22 Centre de référence Maladies Rares CLAD-Ouest [Rennes]
23 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
24 Hôpital Jean Verdier [AP-HP]
25 Université Sorbonne Paris Nord
26 NeuroDiderot (UMR_S_1141 / U1141) - Maladies neurodéveloppementales et neurovasculaires
27 CHU Reims - Hôpital universitaire Robert Debré [Reims]
28 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
29 FHU TRANSLAD (CHU de Dijon)
30 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
31 CH Saint-Brieuc - Centre hospitalier de Saint-Brieuc [Hôpital Yves Le Foll]
32 IFR49 - Neurospin - CEA
33 AP-HP Hôpital universitaire Robert-Debré [Paris]
34 Groupe hospitalier de la région de Mulhouse et Sud-Alsace
35 CHU Trousseau [APHP]
36 Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability [CHU Robert Debré, AP-HP]
37 University Hospital Düsseldorf
38 CTM - Center for Translational and Molecular medicine [Dijon - UMR1231]
39 UFR SMBH - UFR Santé, Médecine et Biologie Humaine
40 IPNP - U1266 Inserm - Institut de psychiatrie et neurosciences de Paris
41 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
42 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
43 UCBL - Université Claude Bernard Lyon 1
44 CRNL - Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center
45 Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf]
46 CHU Angers - Centre Hospitalier Universitaire d'Angers
47 McGill University = Université McGill [Montréal, Canada]
48 UWO - University of Western Ontario
49 USIAS - Institut d’Etudes Avancées de l’Université de Strasbourg - Institute for Advanced Study
Laurence Faivre
Hélène Frenkiel
Carlo Fusco
  • Function : Author
Livia Garavelli
  • Function : Author
Delphine Martin
  • Function : Author
Teresa M Neuhann
  • Function : Author
Marzia Pollazzon
  • Function : Author
Gabriele Trimarchi
  • Function : Author
Markéta Vlčková
Alban Ziegler
ERN Ithaca
  • Function : Author

Abstract

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.
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Dates and versions

hal-04567616 , version 1 (03-05-2024)

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Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, Rami Abou Jamra, et al.. Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders. Molecular Genetics & Genomic Medicine, 2024, 12 (1), pp.e2363. ⟨10.1002/mgg3.2363⟩. ⟨hal-04567616⟩
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