Recent International News about Fragile X Syndrome
Popis a klasifikácia charakteristík tváre - nový vývoj
Based on 3D images of Fragile X Syndrome in a retrospective cohort of young Chinese males Click here to read the complete paper by Jieyi Chen, Siyuan Du, Yiting Zhu, Dongyun Li, Chunchun Hu, Lianni Mei, Yunqian Zhu, Huihui Chen, Sijia Wang, Xiu Xu, Xinran Dong, Wenhao Zhou, and Qiong Xu A long and narrow…
Zmeny mozgovej siete pri syndróme krehkého X
Reviewing neuroimaging findings in FXS Click here to read the full paper by Flavia Venetucci Gouveia, Jürgen Germann, and George M. Ibrahim It is a commonly known fact that FXS leads to widespread and varying alterations in the brain that cause behavioural and cognitive differences. In this new review, the authors provide a comprehensive overview…
Nová štúdia dokumentuje súvislosť medzi spoločnou genetickou variabilitou a trajektóriami správania u mužov s FXS
Click here to read the full research paper by Lydia Cartwright, Gaia Scerif, Chris Oliver, Andrew Beggs, Joanne Stockton, Lucy Wilde, and Hayley Crawford. Background Previous studies have shown that Fragile X Syndrome (FXS), despite being monogenic or involving one gene, results in varied behavioural outcomes due to individual variability in its phenotypic profile.These studies…
Nový systematický prehľad
Fragile X Syndrome across the lifespan with a focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations: A new systematic review Read the original article by Ann C. Genovese and Merlin G. Butler A recently published systematic review describing the genetic foundations of FXS and the identification of associated developmental, behavioral, and psychiatric conditions over the…
Premutácia FMR1 a úzkosť - nová štúdia
Click here to read the full article Study finds no association between FMR1 premutation and either ADHD or anxiety Introduction A research project analysing data collected from 53,707 women undergoing genetic testing for family planning purposes has found no link between the presence of the FMR1 premutation and either ADHD or anxiety. The study consisting…
Vývoj reči - nová štúdia
New Study on the Relationship Between the Fragile X Messenger Ribonucleoprotein (FMRP) and the Development of Speech and Vocabulary in Young Boys living with Fragile X Syndrome Contributors Stephen R Hooper, John Sideris, Deborah R Hatton and Joanne R Roberts have successfully published a groundbreaking new study titled “The Contribution of FMRP to the Development…
Výsledky prieskumu Rare Barometer 2025: Rozpoznávanie postihnutí a prekážok
Key findings from the EURORDIS #RareBarometer survey on the impacts of living with a rare condition have now been finalised and can be accessed here. Conducted between July and September 2024, the survey gathered data from 9591 participants across Europe. We have been sent the Fragile X Syndrome responses as well as the general info….
