biostudies-literatureRuault VGenome Canada Genomic Applications Partnership Program GrantNICHD NIH HHSMinistère des Affaires Sociales et de la SantéNU22-07-00165 from the Ministry of Health of the Czech RepublicLondon Health Sciences Molecular Diagnostics Innovation and Development FundCHU de Dijon BourgogneFondation Bettencourt Schuellere2363https://www.ebi.ac.uk/biostudies/studies/S-EPMC10801341biostudies-literatureUnknown12(1)<h4>Introduction and methods</h4>We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.<h4>Results</h4>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.<h4>Discussion</h4>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. BotMolecular genetics & genomic medicineLessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.PMC10801341P50 HD105351Havlovicova MMarcais NJCospain AKeren BLecoquierre FChopra MFerroul FRondeau SKoch-Hogrebe MThem FTMRossi MMandel JLRuiz NConrad SPiton AArpin SDoco MRio MHancarova MWieczorek DCoubes CRuault VGaravelli LChaumette BLamure VYauy KSadikovic BGoujon LGradels-Hauguel JAlembik YCoursimault JTrimarchi GFrenkiel HSabbagh QBruel ALDufour WSchmetz AKuentz PZelinova MAfenjar ALebre ASThauvin-Robinet CAlessandri JLGoldenberg AHeron DLehman NGouronc AIsidor BBurger PPhilippe CBendova SPrchalova DPutoux ASaugier-Veber PLyonnet SDelahaye-Duriez AMignot CXtraordinaireFaivre LLesca GWillems MChatron NJamra RAZiegler AGarde AGermanaud DGENIDA ProjectEngel CNicolas GNeuhann TMGerard BCharles PDaire VCDurand BGinglinger EToutain AVlckova MVincent MGenevieve DPollazzon MMartin DFusco CFradin MPetit FNizon MBarcia GSteffann JfalseLessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.<h4>Introduction and methods</h4>We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.<h4>Results</h4>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.<h4>Discussion</h4>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. Bot2024-01-01T00:00:00Z2024 Jan2026-07-15T14:09:27.405Z2025-06-01T12:02:24.494ZS-EPMC108013413828445210.1002/mgg3.2363