Investigators: Carolyn Drummond, Helen Leonard, Jenny Downs, Kingsley Wong
Project description
Individuals with Rett syndrome commonly experience autonomic respiratory dysfunction such as breath-holding and hyperventilation as well as cardiac abnormalities such as sinus bradycardia and longer QT intervals. Clinical studies directly measuring respiratory function suggest that some form of breathing irregularity may affect every individual with Rett syndrome, but such studies have only been undertaken within a limited age range or with small unrepresentative samples that preclude examination by genotype and other comorbidities. Although we have identified associations between breathing irregularities and age and genotype in large scale studies using parent report, these factors have never been investigated using direct clinical measurements with the necessary sample size, representativeness or ability to provide quantitative outcomes.
We propose to recruit a large sample of individuals with genetically confirmed Rett syndrome in Australia and Italy. Thereafter we will use ambulatory monitoring to characterize breathing and heart rate patterns, and investigate relationships between autonomic breathing dysfunction and genotype, age, and other factors. These data will accelerate the application of new bench science discoveries to clinical care.
External collaborators
- Dr Aglaia Vignoli (San Paolo Hospital)