Walking pattern clues to genetic disorder ‘Fragile X’, ‘Shank3 deletion’: Study

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 subtle movements of wearers of motion-sensing sneakers. The method, published in the journal Scientific Reports, detects gait problems 15 to 20 years before their clinical diagnosis and may help advance intervention models to preserve brain structure and function. “Walking patterns may be a revealing symptom of health, but symptoms of disorders such as Fragile X can escape the naked eye for years,” said study co-author Elizabeth Torres, a 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 Organization for Rare Disorders notes that more than 30 percent of people with SHANK3 deletions usually require two or more chromosome studies before the deletion can be detected.

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

The researchers combined data from different patients and those without any disorders, including video, heart rate and using wearable technology like Fitbit.

The team analyzed how the spikes obtained from microvariation change momentarily and at what rate in a stream of movements.

Instead of taking the grand average, discarding these spikes as noise, they examined the peaks, valleys, and points around the peaks, and determined significant intervals in the timing of the spikes.

According to research, gait naturally decreases with normal aging. However, the hip, knee and ankle joints and the thigh, leg and foot bones are the first organs to be affected by ageing.

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