Last Monday, Bhatt temporarily installed a mat at the family meeting. Bhatt’s team collected data from the 55 participants, ranging in age from 3 to 41 years.
“The families were very happy that it took little instruction and minimal time to rapidly obtain the gait data,” Bhatt says. “Parents noted that their children were excited to walk on the mat and see their footsteps on the computer.”
Fancy footwork:
Footstep patterns in the typical siblings vary little, and their feet consistently apply pressure from heel to toe, Bhatt’s team found. By contrast, people with the syndrome have a large distance between their feet and tend to distribute less pressure along the entire length of the foot; they also appear to waddle from side to side.
These gait patterns bear a striking resemblance to those seen in the mouse model of the syndrome, says Sarah Spence, assistant professor of neurology at Harvard Medical School, who was not involved in the study. That suggests that studying the mice can help researchers understand the neural mechanisms underlying the unusual gait.
The ease with which the researchers appear to be able to collect data on motor function is an important advance for the field, Spence says. “One thing we have not done very well or thoroughly is investigate motor functioning, and the reason is because we didn’t have good measures,” she says. “Having a quantifiable motor measure that’s super easy to collect the data on is remarkable.”
Bhatt and her colleagues have also devised a way to use the mat to measure balance and stability. Traditional measures of balance require people to stand on one foot for up to at least 30 seconds, or to climb onto a balance board. Both of these tasks are difficult for people with dup15q syndrome.
In the task that Bhatt’s team developed, by contrast, participants simply stand in place on the mat and lift one foot for a few seconds. The mat measures the area and length in which the standing foot applies pressure, providing a measure of stability. The larger the area and length, the less stable the individual. Individuals with dup15q syndrome tend to have a larger area and length than controls do, suggesting they are less stable.
Bhatt says she would like to use the system to measure the walking patterns of people with other syndromes related to autism.
For more reports from the 2017 Dup15q Alliance Scientific Meeting, please click here.
