Authors: Theodoros Bermperidis, Richa Rai, Jihye Ryu, Damiano Zanotto, Sunil K. Agrawal, Anil K. Lalwani, and Elizabeth B. Torres
Summary
Many clinical diagnoses for nervous system disorders come from meeting criteria that are considered observational. While these criteria are standardized, there can still be a lot of variability across individuals with the same diagnosis, which makes finding a treatment challenging. This is true within Fragile X, and researchers are consistently trying to find sub-groups within the larger Fragile X population that may best respond to certain treatments and finding something measurable to help predict how your condition may evolve is important. We know that there is likely not a one-size-fits-all treatment, so this work is very important.
Patients with Fragile-X-associated tremor/ataxia syndrome (FXTAS), patients with Parkinson’s Disease (PD) and patients with autism spectrum disorder (ASD) all have motor issues that can be identified, measured, and tracked by their gait throughout their lifespan. Because there is overlap in the genes involved in these three diagnoses, identifying patterns in gait issues in these disorders may help with earlier diagnosis and treatment.
The study team analyzed how gait and the small movements changed. While gait declines naturally with typical aging, the hip, knee, and ankle joints and the thigh, leg, and foot bones are the first to be impacted. Fragile X premutation carriers shows a lag in connectivity across the body in comparison to individuals without the premutation. Through their novel statistical technique, the team grouped a random sample of the population into different sub-categories of nervous system diagnoses. The easiest group to detect and forecast different gait was the Fragile X premutation participants against the elderly participants undergoing natural aging.
Why This Matters
Early detection is key to early treatment. Being able to identify and diagnose possible nervous system disorders by detecting gait problems 15 to 20 years before their clinical diagnosis could help advance treatment development and quality of life. This could be especially helpful for Fragile X premutation carriers as they age given the possibility of developing FXTAS.
Next Steps
More research needs to be done on this topic to best understand the predictive properties of gait in individuals who carry the Fragile X premutation carriers. This research suggests building screening tools based on walk tests could help with early detection and diagnosis of several nervous system disorders.
Acknowledgements and Funding
We thank all participants in the study. This research was funded by the (New Jersey) Governor’s Council for the Medical Research and Treatments of Autism, grant number CAUT15APL038, and by the Nancy Lurie Marks Family Foundation Career Development Award to Elizabeth B. Torres.
FOR MORE DETAILS VISIT:
Optimal time lags from causal prediction model help stratify and forecast nervous system pathology↗
Bermperidis, T., Rai, R., Ryu, J. et al. Optimal time lags from causal prediction model help stratify and forecast nervous system pathology. Sci Rep 11, 20904 (2021). https://doi.org/10.1038/s41598-021-00156-2↗
more research results
Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in FXTAS
This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.
A Human Forebrain Organoid Model of Fragile X Syndrome Exhibits Altered Neurogenesis
While there is promise for future treatments, utilizing this iPSC brain organoid model for future treatment development could prove to be successful.
Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability: Longitudinal Trends Over a Decade
This study shines a light on the need for better long-term support and care planning for individuals with Fragile X syndrome.
Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?
Raising knowledge and awareness of Fragile X syndrome to medical professionals leads to direct benefits for families and individuals.
Featured image by Clker-Free-Vector-Images↗ from Pixabay↗