Recent International News about Fragile X Syndrome

Typical facial characteristics of a boy with Fragile-X-Syndrome

Facial characteristics description and classification – New developments

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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…
ادامه مطلب Facial characteristics description and classification – New developments
Colourful Brain Network Mapping

Brain network alterations in Fragile X Syndrome

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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…
ادامه مطلب Brain network alterations in Fragile X Syndrome
A computer edited picture of the X chromosome

New study documents the association between common genetic variation and behavioural trajectories in males living with 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…
ادامه مطلب New study documents the association between common genetic variation and behavioural trajectories in males living with FXS
A Boy is thinking

A new systematic review

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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…
ادامه مطلب A new systematic review
Red and Blue DNA picture

FMR1 Premutation and Anxiety – New Study

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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…
ادامه مطلب FMR1 Premutation and Anxiety – New Study
پسر در ساحل

Speech Development – New Study

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مطالعه جدید در مورد رابطه بین ریبونوکلئوپروتئین پیام رسان X شکننده (FMRP) و توسعه گفتار و واژگان در پسران جوانی که با سندرم X شکننده زندگی می کنند، مشارکت کنندگان استفان آر هوپر، جان سیدریس، دبورا آر هاتون و جوآن آر رابرتز با موفقیت عنوان جدیدی از توسعه FRP را منتشر کردند.
ادامه مطلب Speech Development – New Study
Symbols of what people living with disabilities have to cope with in life

Results of the Rare Barometer Survey 2025: Recognising Disabilities and Barriers

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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….
ادامه مطلب Results of the Rare Barometer Survey 2025: Recognising Disabilities and Barriers

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