The University of Melbourne
Browse
MIYA ST JOHN_VYT_2021.mp4 (24.15 MB)

Investigating speech and language in rare genetic disorders

Download (24.15 MB)
presentation
posted on 2021-08-26, 06:23 authored by Miya St John

Diagnosis of a speech or language disorder can impose lifelong impacts on literacy, social skills and employment outcomes. Rare genetic neurodevelopmental disorders are often accompanied by speech and language disorders in childhood with subsequent deleterious impacts. Although genetic disorders are individually rare, collectively they are common and contribute to a vast number of individuals living with speech and language disorders across the world. My project aims to phenotype the communication profiles of a number of recently identified, but poorly understood genetic conditions of relevance to the speech field including those with KAT6A/B variants and KANSL1 mutations (i.e. Koolen-de Vries syndrome, KdVS). The reverse phenotyping will enhance knowledge of diagnosis and prognosis of communication disorder in those with rare mutations such as KAT6A, to guide early therapy options and improve quality of life.

History

Usage metrics

    University of Melbourne Visualise Your Thesis

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC