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 of what we currently know about neuronal network alterations in FXS by highlighting neuroimaging studies that show network-level disruptions within resting-state networks. The study is an important reminder of the importance of using neuroimaging technology to navigate through new insights, uncover molecular underpinnings of FXS and developing potential therapeutic targets. The authors also draw attention to disproportionalities within broader FXS research and gaps in existing literature. 

The authors have identified that there has been a rapid decline in the number of FXS imaging studies. While neuroimaging has so far provided crucial insights into FXS-related

brain network alterations, existing methods such as MRI and fMRI suffer from a lack of inclusivity for individuals living with accessibility issues, intellectual disabilities and behavioural difficulties. We need more interest in investing in and focusing on using state-of-the-art neuroimaging techniques to understand FXS-related brain function.

The study also highlights disproportionalities in the demographics represented in studies. Geographically, there is a population bias (for example, 80% of similar studies focus on the US) which leads to the impact of factors like genetic diversity, environmental factors, and cultural influences being understudied and sometimes ignored completely. A closer look at demographic imbalance shows that there are less studies focusing on older adults and females living with FXS. More research is also needed to understand how associated diagnoses and medication influence brain imaging findings and behavioural responses (particularly in individuals living with FXS and also ADHD, anxiety and ASD).