Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Valentin RuaultPauline BurgerJohanna Gradels-HauguelNathalie Ruiznull nullRami Abou JamraAlexandra AfenjarYves AlembikJean-Luc AlessandriStéphanie ArpinGiulia BarciaŠárka BendováAnge-Line BruelPerrine CharlesNicolas ChatronMaya ChopraSolène ConradValérie Cormier DaireAuriane CospainChristine CoubesJuliette CoursimaultAndrée Delahaye-DuriezMartine DocoWilliam DufourBenjamin DurandCamille EngelLaurence Olivier-FaivreFanny FerroulMélanie FradinHélène FrenkielCarlo FuscoLivia GaravelliAurore GardeBénédicte GerardDavid GermanaudLouise GoujonAurélie GouroncEmmanuelle GinglingerAlice GoldenbergMiroslava HancarovaMarkéta HavlovicováDelphine HeronBertrand IsidorNolwenn Jean MarçaisBoris KerenMargarete Koch-HogrebePaul KuentzVictoria LamureAnne-Sophie LebreFrançois LecoquierreNatacha LehmanGaetan LescaStanislas LyonnetDelphine MartinCyril MignotTeresa M NeuhannGaël NicolasMathilde NizonFlorence PetitChristophe PhilippeAmélie PitonMarzia PollazzonDarina PrchalováAudrey PutouxMarlène RioSophie RondeauMassimiliano RossiQuentin SabbaghPascale Saugier-VeberAriane SchmetzJulie SteffannChristel Thauvin-RobinetAnnick ToutainFrédéric Tran Mau ThemGabriele TrimarchiMarie VincentMarkéta VlčkováDagmar WieczorekMarjolaine WillemsKevin YauyMichaela ZelinováAlban Zieglernull nullBoris ChaumetteBekim SadikovicJean-Louis MandelDavid GenevièvePublished in: Molecular genetics & genomic medicine (2024)
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.
Keyphrases
- attention deficit hyperactivity disorder
- sleep quality
- autism spectrum disorder
- palliative care
- depressive symptoms
- physical activity
- working memory
- systematic review
- primary care
- healthcare
- copy number
- electronic health record
- big data
- rna seq
- gene expression
- dna methylation
- data analysis
- genome wide
- artificial intelligence