A reliable tool for parents or caregivers to judge the quality of nonverbal communication in Angelman syndrome patients is now available, according to the Foundation for Angelman Syndrome Therapeutics (FAST), which supported work that lead to its development.
Called Observer-Reported Communication Ability (ORCA), the tool grew from a partnership between FAST and the Center for Health Measurement (CHM) at Duke University School of Medicine, with the help of direct feedback and involvement from the Angelman community.
Severe impairments in speech and difficulties with verbal communication are common among Angelman’s patients, making them rely on gestures, sign language, and devices to communicate with others.
In a previous survey among FAST’s Facebook members, 332 parents/caregivers reported that better ways of communicating were one of the most important and desired improvements for this disease.
“However, there lacked good quality parent/caregiver-reported measures of communication ability that would provide a reliable and valid assessment for individuals with [Angelman],” FAST stated in the announcement.
To address this need, FAST partnered with CHM in 2018 to design and validate an outcome measure that would reliably assess an individual’s communication ability level at a given moment, and changes in such skills over time in clinical trials.
The FAST-funded research project was led by Bryce Reeve, PhD, a psychometrician who has been involved in the development of several patient-reported questionnaires, and is the director of CHM.
Bryce is also a professor of population health sciences and pediatrics at Duke, and a member of FAST’s scientific advisory board.
The CHM team included people with expertise in the design and evaluation of measures, as well as speech language experts with experience in assessing communication ability in a variety of conditions associated with communication deficits.
The partnership was part of FAST’s Angelman Biomarker and Outcome Measure Initiative, which aims to create or identify biomarkers and outcome measures to be used by all parties interested in developing therapies for Angelman.
ORCA includes 72 questions representing 22 conceptual areas of communication and capturing several types of mostly nonverbal communication, such as gestures, vocalizations, and use of assistive technology.
It was designed to allow patients to score high or low regardless of the ways they use to communicate, and is able to place each patient along a continuum of communication ability that allows assessment of changes over time.
The questionnaire is meant to be completed by the caregiver who is most familiar with the patient and the ways they communicate, and takes about 15–20 minutes to complete without the help of a clinician or speech language expert.
Notably, the ORCA measure was created using rigorous qualitative and quantitative methods and according to best practice recommendations by the U.S. Food and Drug Administration (FDA) and other organizations.
The CHM team first conducted in-depth interviews with both caregivers of Angelman’s patients and communication experts with experience in Angelman’s to identify relevant types of communication behaviors.
A total of 22 communication concepts — such as seeking attention, requesting “more” of something (like food), making choices, and greeting people — were found to be important to include with this tool.
After confirming that the questions included in ORCA were understandable and appropriate through additional interviews with patient caregivers, the team tested the measure with 290 caregivers or parents of Angelman patients.
Results provided strong evidence that the ORCA questionnaire was able to effectively capture patients’ communication ability, with little error.
According to FAST, ORCA’s development and validation process will be published in a scientific journal and shared with the U.S. Food and Drug Administration (FDA).
The CHM team is working to translate the tool’s English version into other languages so it may be used globally.
FAST and the CHM team believe that while the measure has not been validated in people with conditions other than Angelman syndrome, it may be applicable to similar neurodevelopmental diseases affecting speech.