Recent International News about Fragile X Syndrome
Facial characteristics description and classification – New developments
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…
Brain network alterations in Fragile X Syndrome
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…
New study documents the association between common genetic variation and behavioural trajectories in males living with 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…
A new systematic review
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…
FMR1 Premutation and Anxiety – New Study
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…
Speech Development – New Study
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…
Results of the Rare Barometer Survey 2025: Recognising Disabilities and Barriers
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….
First-of-its-kind study on Reduced Respiratory Sinus Arrhythmia in infants with the FMR1 premutation
To read the full paper by Abigail Chase, Lisa Hamrick, Holley Arnold, Jenna Smith, Rachel Hantman, Kaitlyn Cortez,Tatyana Adayev, Nicole D. Tortora, Alison Dahlman, and Jane Roberts, click here. Background The Fragile X Premutation (FXpm) is caused by a CGG repeat between 55-200 in the FMR1 gene and is linked with Autonomic Nervous System (ANS)…
Premutation Females with preFXTAS: A paper calling for sex-specific diagnostic criteria
Read the new study highlighting the possibility of formulating new diagnostic criteria, biomarkers and interview checklists/assessment scales specifically catered to females living with Fragile-X-associated tremor/ataxia syndrome (FXTAS). While FXTAS is a progressive neurodegenerative disorder associated with the FMR1 gene premutation in both males and females, researchers have found its presentation and progression varies in women….
“When Life Becomes More Demanding”: A lifelong, multi-integrated approach in delivering Neuropsychological-Cognitive Behavioural Therapy to young adults living with FXS
A project led by Dr Alice Montanaro has found that combined neuropsychological-cognitive behavioural therapy (nCBT) for young adults living with FXS benefits them more in their everyday life due to its multi-dimensional approach. Meet Alice Montanaro. She is not your ordinary FXS clinical researcher. She works as a cognitive behavioural therapist at the University of…
“Despite having intellectual disability and autism characteristics, children with FXS are skilled at mentalising”, a new study finds.
This blog article summarises findings from a research article documenting mentalising skills of children who live with Cornelia de Lange Syndrome and Fragile X Syndrome. You can read the full paper by Katherine Ellis, Joanna Moss, Malwina Dziwisz, Beth Jones, Christina Danai Griva, Sophie Pendered, Roisin C Perry, and Sarah J White here. For more…
80 years of progress in FXS research
Mathijs B. van der Lei and R. Frank Kooy take us through 8 decades of transformative FXS research in this literature review. Image courtesy of Biomedicines Extensive research over the past 80 years has led to key advancements in the genetic, molecular, and clinical understanding of Fragile X Syndrome (FXS). A historic account of FXS…
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 lifespan of the individual is now available to read online. Researched by Ann C. Genovese and Merlin G. Butler, the…
A systematic review of non-pharmacological interventions targeting motor difficulties in neurodivergent children
Read the full report by Aunnika D Short, Huilin Chen, Victoria Hulks and Gaia Scerif here. Early interventions in motor skills development in neurodivergent children have been proven to benefit them greatly as they grow older. Motor skills are critical for children to interact and engage with the outside world. There is an inextricable link…
