Developmental Motor Phenotype in Fragile X Syndrome: Assessment of Motor Control through Innovative Gait Analysis and Definition of New Biomarkers
Co-Principal Investigator
Co-Principal Investigator
FRAXA Fellow
FRAXA Fellow
Padua, Italy
Summary
One of the lesser known signs of Fragile X is unsteady walking. This is also very easy to evaluate in the clinic: no blood tests are required! This team is working to develop objective new outcome measures of gait for future treatment trials and also to see if exercise could improve other symptoms of Fragile X.
The Results
Results Published in 2025: Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait
The study looked at how children with Fragile X syndrome (FXS) walk and use their muscles compared to children without FXS. When the kids walked at their normal speed, the researchers used motion tracking and muscle sensors to measure muscle activity and found that children with FXS tended to rely more on fast-twitch muscle fibers than typical children, meaning their muscles activated differently during movement. This greater use of fast-twitch fibers may help explain why many children with FXS get tired more easily and have trouble with physical endurance.
This difference might prove useful as a clinical trials outcome measure.
The Science
by Alessandra Murgia, PhD
In a recent pilot study we showed, in a small cohort of Fragile X syndrome (FXS) subjects, a gait pattern characterized by specific alterations of joint kinematics and electromyographic (EMG) signals. Despite their high prevalence, motor problems, unsteady gait and walking perturbations are undervalued in FXS compared to cognitive, behavioral and social interaction deficits.
Based on these considerations this project aims to:
- Evaluate motor (dis)abilities in children with FXS and identify critical periods for the development of motor dysfunctions.
- Correlate motor, cognitive and behavioral phenotypes with age of FXS individuals and with molecular parameters.
- Define quantitative biomarkers of motor impairment in FXS children through innovative gait analysis approaches.
- Explore if and when exercise during the critical periods can ameliorate electrophysiological and behavioral phenotypes.
Understanding motor disturbances in FXS may clarify the complexity of this disorder and identify clinically actionable biological markers.
Meet the Scientists
Alessandra Murgia, MD, PhD iAssociate Professor of Medical Genetics, Pediatrics, Schools of Medicine, Speech Therapy and Psychology, at the University of Padua. Sadly, Prof. Murgia has passed away.
Prof. Zimi Sawacha is a Research Fellow in the Department of Information Engineering at the University of Padua. Her research interests mainly concern human movement analysis and biomechanics, especially gait and posture analysis combined with surface electromyography.
Dr. Fabiola Spolaor and Dr. Annamaria Guiotto, both researchers in the Department of Information Engineering at the University of Padua, will serve as FRAXA Fellows on this project.
Grant Post Revisions
- 2025/09 - Added The Results.
- 2022/05 - Original grant post published.