Home videos may help doctors evaluate Angelman patient skills
At-home assessment less stressful, may complement clinic tests
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Researchers have developed a video-based assessment that can be done at home to evaluate the functional skills of people with Angelman syndrome, saying it may complement clinic-based tests to help doctors better understand what patients are capable of when they aren’t feeling anxious or stressed.
The team described the new assessment in the paper, “Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study,” an early-access version of which was published in the Journal of Neurodevelopmental Disorders.
Angelman syndrome is a genetic condition that affects development. Functional tests allow doctors to track how the disease is progressing. In clinical trials, these tests are used to evaluate if experimental therapies are working. One of the most common tests used to track functionality in Angelman patients is the Bayley Scales of Infant and Toddler Development,
Functional tests such as the Bayley are performed in a clinic under a doctor’s supervision. But this can cause a lot of stress for people with Angelman, who often experience anxiety when in unfamiliar environments. And since people who are anxious and stressed are likely to perform worse than they otherwise might, assessments in clinics may underestimate the functional abilities of Angelman patients.
“The inherent limitations in [assessments done at clinics] call for the need to develop a more objective outcome measure that will allow clinical investigators to assess changes in developmental skills that are meaningful to the caregivers and reflect the true ability of the participants in their natural environments to determine whether treatments are effective in clinical trials,” the researchers wrote.
Test mirrors home assessments for other rare conditions
The scientists, seeking to develop a functional test that could be performed at home, built on similar work on at-home assessments for other rare genetic disorders. Their assessment involved caregivers taking their child through a set list of tasks while recording each task on video, which could then be reviewed by an expert.
The researchers tested the new tool, which they dubbed the Angelman Syndrome Video Assessment (ASVA), in a pilot study involving 11 people with Angelman and their caregivers.
“The ASVA is a new performance-based outcome measure designed to allow for the evaluation of daily functioning in individuals with [Angelman] in their home environment,” the researchers wrote. “This study found that the approach is feasible in families with [Angelman].”
Caregivers, in interviews, echoed the idea that home assessments might yield more accurate results than clinic tests. One caregiver said that when researchers assess their son in unfamiliar or overstimulating environments, “they think that he can’t do a single thing, because my son won’t do a single thing for him. … and I’m like, he knows a whole lot more. He’s actually a lot smarter than you’re able to assess.”
The assessment included tasks to evaluate four broad domains: communication abilities, motor skills, self-care, and executive function (the ability to regulate one’s own actions and emotions). The researchers’ original assessment involved 27 tasks, but after reviewing the videos and caregiver feedback, they modified many of them. The team ultimately omitted several tasks after determining they weren’t providing useful information, and they shortened the video list to 13 for patients who could walk and 12 for those with limited mobility.
The scientists stressed that this was a small pilot test, and further work is needed to refine the ASVA. Most of the patients in the study were children or teenagers, the researchers said, noting the need for further studies to determine whether adults with Angelman syndrome and their caregivers are as receptive to the test.
“If it is validated in the future, this tool presents a promising new approach to evaluate participant functioning in clinical trials and for clinical care,” the researchers wrote.
