Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. Christy Zigler

Quick Overview

Dr. Christy Zigler, a researcher at Duke University, discusses her work on the Observer Reported Measure of Communication Ability (ORCA) for individuals with Angelman Syndrome. The ORCA is a measure of communication abilities based on input from families and caregivers. Dr. Zigler explains that the ORCA was developed through qualitative interviews with families to ensure that their experiences and perspectives were captured in the measure. She also discusses the importance of communication in the lives of individuals with Angelman Syndrome and the need for a reliable and valid measure to assess communication abilities. Dr. Zigler mentions that the ORCA is being expanded to other neurodevelopmental disorders and is being used in clinical trials to assess the effectiveness of treatments.

I’m excited to be here today conducting interviews for Angelman Updates. This is a joint production of the Foundation for Angelman Syndrome Therapeutics and the Angelman Syndrome Foundation to bring to our families researchers and clinicians who are making the biggest impact on the field of Angelman Syndrome. And because I am the parent of an adult son with Angelman Syndrome and a neuroscientist, these interviews are really fun for me because I get to ask questions I’ve always wanted to ask of the researchers I’ve always been fascinated with and present them to you. So today we have Dr. Christy Zigler, who is a researcher at Duke University on a team with Dr. Bryce Reeve.

Introducing Dr. Christy Zigler

Dr. Christy Zigler is an assistant professor at Duke University in the School of Medicine. She is a statistician and psychometrician by training, with a background in health measurement. Her research focuses on developing measures that capture the experiences of individuals with rare diseases, including pediatric localized scleroderma. Dr. Zigler’s current work involves the development of the Observer Reported Measure of Communication Ability (ORCA) for individuals with Angelman Syndrome.

Understanding Psychometrics

Psychometrics is the study of testing and measurement. It involves developing measures and assessing their reliability and validity to ensure that they accurately assess what they are intended to measure. In the context of the ORCA, psychometrics is used to determine whether the measure effectively captures communication abilities in individuals with Angelman Syndrome.

The ORCA Measure

The ORCA is an observer-reported measure of communication ability in individuals with Angelman Syndrome. Dr. Zigler and her team conducted qualitative interviews with caregivers of children and adults with Angelman Syndrome to understand their experiences with communication. This information was used to develop a conceptual framework and draft the measure. Advanced statistical methods were then employed to ensure the measure’s interpretability, validity, and reliability.

Insights from Angelman Families

During the development of the ORCA, Dr. Zigler and her team discovered that existing measures often failed to capture the full range of communication abilities in individuals with Angelman Syndrome. Many individuals scored at the lowest possible level on these measures, which did not accurately reflect their experiences. The ORCA was designed to address this issue and ensure that all individuals’ experiences are captured, regardless of their communication modality.

The Importance of Communication in Angelman Syndrome

Communication is a high priority for families affected by Angelman Syndrome. Improvements in communication can have a significant impact on the quality of life for individuals with the condition. The ORCA measure aims to capture meaningful changes in communication abilities, which can be used as an endpoint in clinical trials and contribute to the development of effective treatments.

Expanding the ORCA

The Foundation for Angelman Syndrome Therapeutics funded the initial development of the ORCA measure. Dr. Zigler and her team have recently received funding from the U.S. Food and Drug Administration to expand the ORCA to other neurodevelopmental disorders. They are currently conducting qualitative interviews with parents of children with severe communication impairments to assess the applicability of the ORCA in these conditions.

The Future of the ORCA

The ORCA measure has the potential to be a valuable tool in clinical trials for Angelman Syndrome and other neurodevelopmental disorders. Its ability to capture meaningful changes in communication abilities can help determine the effectiveness of treatments and contribute to the approval of new therapies. Dr. Zigler and her team are committed to ensuring the measure’s validity and reliability, and they are actively working to expand its use in other conditions.

In conclusion, the ORCA measure developed by Dr. Christy Zigler and her team at Duke University is a promising tool for assessing communication abilities in individuals with Angelman Syndrome. Through qualitative interviews with families, the measure was designed to capture the full range of communication experiences and provide meaningful insights for clinical trials and treatment development. The ongoing expansion of the ORCA to other neurodevelopmental disorders demonstrates its potential to make a significant impact in the field of rare diseases.

Talk details

  • Title: Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. Christy Zigler
  • Author(s): Christy Zigler
  • Author(s)’ affiliation: Duke University School of Medicine
  • Publication date: 2021-06-21
  • Collection: Angelman Updates with Dr. Terry Jo Bichell