Recent International News about Fragile X Syndrome

Förändringar i hjärnans nätverk vid Fragile X-syndromet

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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…
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Ny studie dokumenterar sambandet mellan gemensam genetisk variation och beteendeutveckling hos män som lever med FXS

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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…
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En ny systematisk översikt

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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…
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FMR1-premutation och ångest - ny studie

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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…
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Talutveckling - ny studie

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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…
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Resultat av Rare Barometer-undersökningen 2025: Att känna igen funktionsnedsättningar och barriärer

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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….
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