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. 2024 Jan;12(1):e2363.
doi: 10.1002/mgg3.2363.

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

Valentin Ruault  1   2 , Pauline Burger  3 , Johanna Gradels-Hauguel  4 , Nathalie Ruiz  1   2 ; Xtraordinaire  5 ; Rami Abou Jamra  6 , Alexandra Afenjar  7 , Yves Alembik  8 , Jean-Luc Alessandri  9 , Stéphanie Arpin  10 , Giulia Barcia  11 , Šárka Bendová  12 , Ange-Line Bruel  13   14 , Perrine Charles  15 , Nicolas Chatron  16   17 , Maya Chopra  18   19 , Solène Conrad  20 , Valérie Cormier Daire  11 , Auriane Cospain  21 , Christine Coubes  1   2 , Juliette Coursimault  22 , Andrée Delahaye-Duriez  23   24   25 , Martine Doco  20   26 , William Dufour  16 , Benjamin Durand  8 , Camille Engel  27 , Laurence Faivre  13   28 , Fanny Ferroul  9 , Mélanie Fradin  21   29 , Hélène Frenkiel  5 , Carlo Fusco  30 , Livia Garavelli  31 , Aurore Garde  13   28 , Bénédicte Gerard  8 , David Germanaud  32   33 , Louise Goujon  32   33 , Aurélie Gouronc  8 , Emmanuelle Ginglinger  34 , Alice Goldenberg  22 , Miroslava Hancarova  12 , Markéta Havlovicová  12 , Delphine Heron  35 , Bertrand Isidor  20 , Nolwenn Jean Marçais  21 , Boris Keren  36 , Margarete Koch-Hogrebe  37 , Paul Kuentz  14   27 , Victoria Lamure  24 , Anne-Sophie Lebre  26   38 , François Lecoquierre  22 , Natacha Lehman  1   2 , Gaetan Lesca  16   17 , Stanislas Lyonnet  11   39 , Delphine Martin  5 , Cyril Mignot  36 , Teresa M Neuhann  40 , Gaël Nicolas  22 , Mathilde Nizon  20 , Florence Petit  41 , Christophe Philippe  13   14 , Amélie Piton  8 , Marzia Pollazzon  31 , Darina Prchalová  12 , Audrey Putoux  16   42 , Marlène Rio  11 , Sophie Rondeau  11 , Massimiliano Rossi  16   42 , Quentin Sabbagh  1   2 , Pascale Saugier-Veber  22 , Ariane Schmetz  37 , Julie Steffann  11 , Christel Thauvin-Robinet  13   14   28 , Annick Toutain  10 , Frederic Tran Mau Them  13   14 , Gabriele Trimarchi  31 , Marie Vincent  20 , Markéta Vlčková  12 , Dagmar Wieczorek  37 , Marjolaine Willems  1   2 , Kevin Yauy  1   2 , Michaela Zelinová  12 , Alban Ziegler  43 ; GENIDA Project  3 ; Boris Chaumette  4   44   45 , Bekim Sadikovic  46   47 , Jean-Louis Mandel  3   48 , David Geneviève  1   2
Affiliations

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

Valentin Ruault et al. Mol Genet Genomic Med. 2024 Jan.

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.

Keywords: DDX3X; ADHD; caregivers; developmental milestones.

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Conflict of interest statement

No competing interests to declare.

Figures

FIGURE 1
FIGURE 1
Box plots of (a) physician‐reported developmental milestones and (b) parent and caregiver‐reported developmental milestones. Data are median (horizontal bars), 1st and 3rd quartiles (box edges), and range (whiskers). (Figure generated from GENIDA).
See this image and copyright information in PMC

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