OCNDS (CSNK2A1) Speech & Language Research – Dr. Miya St. John | Conference 2025 скачать в хорошем качестве

OCNDS (CSNK2A1) Speech & Language Research – Dr. Miya St. John | Conference 2025

Speech and Language Phenotyping in Okur-Chung Neurodevelopmental Syndrome (CSNK2A1-Related Neurodevelopmental Syndrome) In this talk from the 2025 Connect + Collaborate Scientific & Family Conference, Dr. Miya St. John introduces her new research project focused on understanding speech and language in individuals with OCNDS. Speech and language challenges are common in OCNDS and can deeply impact daily living skills, schooling, social relationships, and employment. Yet, the communication profile of OCNDS remains poorly defined, and no studies have systematically examined these abilities with formal assessments—until now. Dr. St. John’s study aims to: *Characterize speech and language abilities in people with CSNK2A1 variants. *Assist families and clinicians with accurate diagnoses to guide effective therapy and treatment planning. *Explore genotype-phenotype correlations by investigating how different genetic variants may influence communication. *Identify optimal outcome measures for speech and language to be used in future clinical trials. By using well-established assessments across verbal, minimally-verbal, and non-verbal individuals—covering speech, language, feeding, and adaptive behavior—this research will create the most comprehensive communication profile to date for OCNDS. 📌 Learn more about the CSNK2A1 Foundation and our mission: https://csnk2a1foundation.org 📌 Subscribe for more talks from the 2025 OCNDS Conference.