Imaging Fragile X

Published Feb 2021


Fragile X syndrome is the most common monogenic (meaning linked to a single gene) cause of intellectual and developmental disability. The DNA changes in this single gene, called FMR1, lead to the creation of an incomplete or missing protein (called FMRP) that is essential for brain development. The brain changes due to this missing protein themselves lead to the intellectual and learning difficulties experienced by people with fragile X syndrome. There have been a number of previous brain imaging studies in fragile X syndrome, however, most of them have focused on individuals who are more cognitively able than most individuals with FXS. Also, many previous studies, have focused on females with fragile X syndrome, with boys and men relatively under-represented among those who have previously participated.

Why did we do this study?

Firstly, we wanted to see whether, and how easily, it was possible to scan individuals with fragile X syndrome who were more cognitively affected than most prior participants. If possible, then this opens up the possibility of brain imaging being considered for future studies. Hitherto, many might consider it too difficult, or not even possible. Further, we were interested in whether previous results showing differences between autistic individuals and typically-developing peers would be paralleled in those with FXS and high measures of autistic traits compared to individuals with FXS and lower measures of autistic traits.

What did we find?

Firstly, and most importantly, we found that it was possible to undertake the scans in individuals with FXS. Using a combination of rehearsal on mock scanners, a very short (~10 minute) scan sequence and expert help from the radiographers, we were able to scan most participants successfully.

Secondly, we did indeed find a pattern of brain activity in those with FXS and higher autistic traits that parallels that seen in individuals with autism not associated with FXS. This perhaps helps us to better understand the relationship between FXS and autism; something that is frequently discussed.

Where can I get more information?

The main findings from the study have already been published in academic journals. 

A functional MRI facial emotion-processing study of autism in individuals with special educational needs.

McKechanie AG, Lawrie SM, Whalley HC, Stanfield AC. Psychiatry Res Neuroimaging. 2022 Mar;320:111426. doi: 10.1016/j.pscychresns.2021.111426.
Autism in Fragile X Syndrome; A Functional MRI Study of Facial Emotion-Processing.

McKechanie AG, Campbell S, Eley SEA, Stanfield AC. Genes (Basel). 2019 Dec 17;10(12):1052. doi: 10.3390/genes10121052.

Who conducted and funded the project?

This study was conducted by Andrew McKechanie, with help from colleagues Sarah Eley, Sonya Campbell and Andrew Stanfield at The Patrick Wild Centre. Radiographers at the Edinburgh Imaging Facility QMRI were also key in helping the participants to become comfortable with the scanning environment and to be able to successfully undertake the scans.

This study was made possible by a generous grant from the RS Macdonald Charitable Trust, to whom we are very grateful.


We are most grateful to all of the participants; without whom we could not have completed the study. We are further grateful for the support of the board of The Fragile X Society who had input into the original protocol and who helped us to recruit to the study.

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