Project: Speech and language digital endpoints in Okur-Chung Neurodevelopmental Syndrome

Lead Investigator: Miya St. John, MAppLing, MSpPath PhD | Murdoch Children’s Research Institute

Grant Details:

Project funded for one year starting in 2026 for a total of $50,000.

Aims of Grant: 

Individuals with OCNDS can experience speech and language challenges, including delayed communication milestones, atypical oral-motor skills, and non-specific “impaired speech ability.” However, communication in OCNDS has not been systematically investigated. 

As more rare diseases, including OCNDS, are moving toward therapeutic development, communication could serve as a highly relevant and family-prioritized outcome measure. However, communication is currently rarely included in clinical trials because there are no validated and scalable measurement approaches.

This project will address these two key gaps by combining clinical speech phenotyping, the detailed description and classification of a person’s speech characteristics, with the development of acoustic and linguistic biomarkers, measurable indicators of speech and language. Computer analysis of features of the voice and speech sounds, as well as of the words and sentence structure that individuals use, can detect changes that may not be audible to the human ear. These measures could serve as strong tools to test whether future treatments are effective, because they are objective, sensitive to small changes, and place a low burden on participants.