Study find links to genetic disorders in walking patterns

10/23/2021
A team of researchers has linked the genetic disorders Fragile X and SHANK3 deletion syndrome -- both linked to autism and health problems -- to walking patterns by examining the microscopic movements of those wearing motion-sensored sneakers.

The method, published in the journal Scientific Reports, detects gait problems 15 to 20 years before their clinical diagnosis and could help advance intervention models to preserve brain structure and function.

"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 co-author Elizabeth Torres, Professor at Rutgers University-New Brunswick.

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 Fragile X syndrome.

The National Organisation for Rare Disorders notes over 30 per cent of people with SHANK3 deletion typically require two or more chromosome studies before the deletion is detected.

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

The researchers combined gait data from various patients and those without any disorders using video, heart rates and wearable technology like a Fitbit.

The team analysed how the spikes derived from microvariations in the movements' stream, changed from moment to moment and at what rate.

Instead of taking grand averages that discard these spikes as noise, they examined peaks, valleys and neighbouring points surrounding the peaks, and causally determined important lags in the spikes' timing.

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.

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