Project: Speech and language phenotyping in Okur-Chung neurodevelopmental syndrome
Lead Investigator: Dr. Miya St. John, BSc, MAppLing, MSpPath, PhD
Grant Details:
Project funded for 1 year starting in 2025 for a total of $33,735.05.
Aims of Grant:
SSpeech and language challenges have been reported in individuals with OCNDS, including delayed communication milestones, atypical oral-motor skills, significantly delayed literacy development, and non-specific ‘impaired speech ability’ as well as autism and autistic-features (see Chiu et al 2017; Okur et al 2016; Owen et al 2018). However, the communication profile remains poorly characterised. No studies to date have sought to examine speech and language in a systematic manner, nor used standardised or formal assessments to delineate between speech and language diagnoses (which is an often misunderstood but clinically important distinction). Currently, our understanding of this condition lacks a clear delineation between motor-based speech disorders (e.g., speech apraxia) compared to cognitive-linguistic impairments. These distinctions are critical for patient care, as without accurate diagnoses, parents and clinicians remain unsure about what therapies to implement, or further may implement incorrect therapies, resulting in wasted time, resources, and money and without positive outcomes.
Our research aims to characterise the speech and language abilities of individuals with CSNK2A1 variants, and in doing so will:
- provide a definitive diagnoses, prognoses and treatment planning guide for families and clinicians,
- investigate whether there are clinical differences corresponding to variant location (i.e., genotype-phenotype correlation) to more specifically inform prognosis, and
- use collected data to delineate optimal speech and language outcome measures to be used in future clinical trials