International Study of Speech and Language in GLUT1 Deficiency Syndrome
Over the past two years, Dr Ruth Braden (Lecturer, Speech Pathology) and a team of speech pathology and neurology colleagues have led an international study, aiming to explain the speech and language phenotype of children and adults with GLUT1 Deficiency Syndrome. This condition, which affects the transport of glucose to the brain, can have significant implications for communication skills in both children and adults.
The research team has conducted comprehensive in-person and online assessments of over 85 individuals with GLUT1 Deficiency Syndrome from across the globe. Data collection included gathering comprehensive questionnaires about participants' overall health and medical profiles, as well as obtaining speech samples, and language and adaptive behaviour measures.
In a novel approach, the team is trialling innovative acoustic speech analyses, which promises to enhance our objective understanding of the speech characteristics associated with GLUT1 Deficiency Syndrome. This significant work not only advances our understanding of GLUT1 Deficiency but also paves the way for improved diagnostic and therapeutic strategies for affected individuals.
The study's success is a testament to the collaborative effort of the research team, including Prof Adam Vogel, Prof Angela Morgan, Prof Ingrid Scheffer, Dr Miya St John, Sara Moreschi and Joanna Bredebusch. We have also benefited from the generous support of the GLUT1 Deficiency Foundation, who has been instrumental in facilitating this important research and providing consumer input to the project.
