Funding Research for Treatments and a Cure

EEG Biomarkers of Language in Angelman Syndrome
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Charlotte DiStefano, PhD Charlotte DiStefano, PhD and Shafali Jeste, MD Developmental and Behavioral Health Center Children’s Hospital Los Angeles

EEG Biomarkers of Language in Angelman Syndrome


The goal of this study is to establish biomarkers of language function in Angelman syndrome. Language is a likely target for both behavioral and pharmaceutical treatment, as it represents a core deficit in Angelman syndrome and is a major area of unmet need in this community.

Given the wide-ranging challenges that individuals with Angelman syndrome experience, it is difficult to obtain accurate and meaningful results when using traditional behavioral assessments, such as the Vineland and Bayley scales. For this reason, developing quantitative, objective measures that do not rely on the individual’s ability to understand verbal instructions or complete standardized tasks will greatly improve traditional language assessments.

This study will measure brain responses to different aspects of language processing in children with Angelman syndrome and will compare these biomarkers to those measured in typically developing children and children with autism spectrum disorder. In addition to establishing biomarkers of language processing, our findings may help us detect previously unrecognized language abilities in individuals with Angelman syndrome, providing information about the true communicative capacity in this population and increasing their access to appropriate interventions.


Study Update

(May 2023) Enrollment for this study was delayed initially due to COVID-19 restrictions, and then further delayed by the the investigators’ move to a new institution. 

Individuals with Angelman syndrome complete a variety of behavioral assessments (e.g. cognitive, language and motor assessments) along with an electroencephalography (EEG) recording while they listen to words and sounds while researchers look at neural responses related to language processing. To date there are 4 participants, with several more families who have expressed interest. 

Data collection has gone well, indicating that the study activities are not overly burdensome to participants.