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Autor
Afenjar, Alexandra 1 Alembik, Yves 1 Alessandri, Jean-Luc 1 Arpin, Stéphanie 1 Barcia, Giulia 1 Bendová, Šárka 1 Bruel, Ange-Line 1 Burger, Pauline 1 Charles, Perrine 1 Chatron, Nicolas 1 Chaumette, Boris 1 Chopra, Maya 1 Conrad, Solène 1 Cospain, Auriane 1 Coubes, Christine 1 Coursimault, Juliette 1 Daire, Valérie Cormier 1 Delahaye-Duriez, Andrée 1 Doco, Martine 1 Dufour, William 1
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APHP La Pitié Salpétrière Paris France 1 APHP Trousseau Paris France 1 CH Saint Brieuc Service de Génétique ... 1 CHU La Réunion Service de génétique S... 1 Center for Rare Psychiatric Disorders... 1 Centre Hospitalier Universitaire de R... 1 Centre de Génétique et Centre de réfé... 1 Child Neurology and Psychiatry Unit A... 1 Department of Biology and Medical Gen... 1 Department of Genetics and Reference ... 1 Department of Medical Genetics Univer... 1 Department of Neurology Rosamund Ston... 1 Department of Pathology and Laborator... 1 Department of Psychiatry McGill Unive... 1 Département de Génétique Centre de Ré... 1 Département de Génétique Centre de ré... 1 Département de Génétique Paris Centre... 1 Genetic Department CEA Paris Saclay N... 1 Genetic Department CHU Lille Clinique... 1 Genetic Department CHU Nantes Service... 1
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Autor
Afenjar, Alexandra 1 Alembik, Yves 1 Alessandri, Jean-Luc 1 Arpin, Stéphanie 1 Barcia, Giulia 1 Bendová, Šárka 1 Bruel, Ange-Line 1 Burger, Pauline 1 Charles, Perrine 1 Chatron, Nicolas 1 Chaumette, Boris 1 Chopra, Maya 1 Conrad, Solène 1 Cospain, Auriane 1 Coubes, Christine 1 Coursimault, Juliette 1 Daire, Valérie Cormier 1 Delahaye-Duriez, Andrée 1 Doco, Martine 1 Dufour, William 1
- Organizace
-
Pracoviště
APHP La Pitié Salpétrière Paris France 1 APHP Trousseau Paris France 1 CH Saint Brieuc Service de Génétique ... 1 CHU La Réunion Service de génétique S... 1 Center for Rare Psychiatric Disorders... 1 Centre Hospitalier Universitaire de R... 1 Centre de Génétique et Centre de réfé... 1 Child Neurology and Psychiatry Unit A... 1 Department of Biology and Medical Gen... 1 Department of Genetics and Reference ... 1 Department of Medical Genetics Univer... 1 Department of Neurology Rosamund Ston... 1 Department of Pathology and Laborator... 1 Department of Psychiatry McGill Unive... 1 Département de Génétique Centre de Ré... 1 Département de Génétique Centre de ré... 1 Département de Génétique Paris Centre... 1 Genetic Department CEA Paris Saclay N... 1 Genetic Department CHU Lille Clinique... 1 Genetic Department CHU Nantes Service... 1
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NLK
Directory of Open Access Journals
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PubMed
38284452
DOI
10.1002/mgg3.2363
Knihovny.cz E-zdroje
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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