Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. Anjali Sadhwani
In this episode of “Angelman Updates with Dr. Terry Jo Bichell,” Dr. Anjali Sadhwani discusses her work on the natural history study of Angelman syndrome. The study aims to understand the developmental changes and key outcome measures in individuals with Angelman syndrome over time. Dr. Sadhwani explains that the study collects data on developmental assessments, communication abilities, anxiety levels, and other domains of development. The data collected will serve as baseline data for upcoming clinical trials and help determine the minimum amount of change needed to assess the effectiveness of therapies. Dr. Sadhwani also discusses the challenges of using the Bayley-4 test and the importance of adaptive functioning assessments. She highlights the benefits of virtual assessments during the COVID-19 pandemic and the ongoing efforts to standardize and improve the assessments. The interview concludes with Dr. Sadhwani expressing her passion for working with the Angelman community and her commitment to supporting families.
In this edition of Angelman Updates with Dr. Terry Jo Bichell, we have the pleasure of speaking with Dr. Anjali Sadhwani, a clinical psychologist at Boston Children’s Hospital and an assistant professor at Harvard Medical School. Dr. Sadhwani has been working with the Angelman community for over 10 years and is involved with both the Foundation for Angelman Syndrome Therapeutics (FAST) and the Angelman Syndrome Foundation (ASF).
The Natural History Study
Dr. Sadhwani discusses her involvement in the natural history study of Angelman syndrome, which aims to understand the developmental changes and key concerns of individuals with Angelman syndrome over time. The study analyzes data from a previous natural history study conducted from 2006 to 2014 and is currently enrolling participants for a revamped study funded by the FDA. The study uses updated measures, such as the Vineland 3 and Bailey 4, to assess developmental progress and other domains of development, including anxiety and communication.
Importance of Natural History Studies
Dr. Sadhwani explains the significance of natural history studies in rare genetic disorders like Angelman syndrome. With a rare disorder like Angelman syndrome, it is challenging to gather data from a large sample size. The natural history study provides a structured and standardized platform to collect data from a diverse range of individuals with Angelman syndrome across different ages and molecular subtypes. This data helps researchers understand the natural progression of the disorder, identify key concerns at different ages, and provide support to families.
Virtual Assessments and Hybrid Models
Due to the COVID-19 pandemic, the natural history study has adapted to virtual assessments, minimizing the need for in-person visits. Dr. Sadhwani explains that virtual assessments allow for interviews with parents, collection of developmental history and medical information, and the use of validated measures to assess communication and other domains of development. In-person assessments are still necessary for certain measures, such as the Bayley-4, which is a key outcome measure in upcoming clinical trials.
Minimal Clinical Important Differences (MCID)
Dr. Sadhwani discusses a grant she received from the NIH to study minimal clinical important differences in the Bayley and Vineland scales for Angelman syndrome. The goal is to determine the minimum amount of change in these measures that would indicate a therapy is effective. By analyzing the natural history data and correlating it with home-based measures, researchers hope to identify meaningful improvements that can guide future clinical trials and treatment decisions.
Dr. Sadhwani explains that adaptive functioning refers to the practical skills and abilities individuals with Angelman syndrome use in their day-to-day lives. This includes communication, self-care, social interactions, and mobility. Assessing adaptive functioning provides insights into the level of burden and stress on families and helps determine the impact of interventions on improving quality of life.
Dr. Sadhwani’s work in the natural history study and her research on minimal clinical important differences in Angelman syndrome contribute valuable insights into the development and treatment of the disorder. Her dedication to the Angelman community and her commitment to understanding the unique challenges faced by individuals with Angelman syndrome and their families is commendable. We look forward to future updates on her research and its impact on improving the lives of those affected by Angelman syndrome.
- Title: Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. Anjali Sadhwali
- Author(s): Anjali Sadwani
- Author(s)’ affiliation: Boston Children’s Hospital
- Publication date: 2021-11-16
- Collection: Angelman Updates with Dr. Terry Jo Bichell