This week we are highlighting newly published work by Drs. Jessica Duis and Jill Silverman, which was funded by FAST, looking at quantitative measures of motor development in individuals living with Angelman syndrome. Work like this is timely as clinical trials require robust quantitative outcome measures that can be routinely used to test for measurable and meaningful change following a potential treatment.
This study compared various gait and motor parameters in a total of 19 individuals living with AS to that of age-matched controls using either a walking mat, a wearable gait monitor on each ankle, a physician examination, or a combination of each. It was found that individuals with AS had smaller stride length and a wider stance, with a generally slower speed. Data collected in 5 individuals with AS showed fewer total steps taken and a slower speed using a gait monitor. Finally, 6 individuals that were evaluated by a physician showed evidence of a flexed knee gait pattern, sometimes called a “crouch” gait. The authors of this study speculated that this type of gait pattern is a consequence of an effort to improve stability and balance by lowering an individual’s center of gravity.
The work was limited by the small number of participants. However, this study does illustrate a robust set of motor outcome measures that can serve as promising endpoints in future AS clinical trials. More work needs to be done to determine the consistency of these motor measures across the lifetime of an individual and what quantifiable change would be deemed measurable and meaningful.