3D Rendered Illustration, scientific visualisation of a Chromosome
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Rutgers researchers have linked the genetic disorders Fragile X and SHANK3 deletion syndrome to specific walking patterns by examining patients’ microscopic movements. The researchers used special motion-sensor enabled sneakers and a simple walking task to measure micro-fluctuations in biorhythmic motions.

According to their new study in the journal Scientific Reports, the approach detects gait problems 15 to 20 years before their clinical diagnosis. Patients with many genetic conditions that impact the nervous system have motor issues, but these are often not diagnosed for a long time since the way they manifest, and when, varies considerably and doctors rely on observation to determine such symptoms.

“Walking patterns can be a revealing trait of health, but gait symptoms of disorders like Fragile X can escape the naked eye for years until they are visibly noticeable,” said study coauthor Elizabeth Torres, a professor of psychology at Rutgers University-New Brunswick and director of the Sensory Motor Integration Lab.

This study provides a framework to help predict the early deviation from normal walking patterns both for normal aging and for people who are Fragile X carriers or suffer from other autism-associated disorders. “Given issues with anatomical differences—such as people with longer or shorter limbs—and disease complexity, it has remained challenging to use walking patterns to screen nervous system disorders more broadly, across disorders impacting people of different ages and developmental stages.”

According to the National Fragile X Foundation, approximately 1 in 468 men and 1 in 151 women are carriers of the abnormal gene that causes this condition. The National Organization for Rare Disorders notes over 30 percent of people with SHANK3 deletion typically require two or more chromosome studies before the deletion is detected. The estimated prevalence of this condition is 2.5-10 per million births with equal likelihood of males and females being affected.

In this study, researchers sought to detect nervous system disorders by examining walking movements that cannot be seen by the naked eye in 189 people.

They measured microscopic movements using statistical techniques developed by Torres and causal forecasting methods devised by Rutgers graduate student Theodoros Bermperidis. They tracked hese movements using motion-detection sneakers created by Stevens Institute of Technology collaborators.

The researchers combined gait data from various patients and those without any disorders using video, heart rates and wearable technology like a Fitbit. Participants completed a simple walking task while wearing the smart shoes, which collected an assortment of signals across the body and feet.

“Given that Fragile X and SHANK3-related syndromes remain high in other neurological conditions such as autism, Fragile X-associated tremor/ataxia syndrome and Parkinson’s, this is an important way to detect signs of abnormal patterns,” said lead author Bermperidis.

According to the research, gait declines naturally with typical aging. However, the hip, knee and ankle joints and the thigh, leg and foot bones are the first limbs impacted by aging. Torres says biosensors paired with analytics and the doctor’s broad experience can together offer much more than meets the eye.

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