Year: 2017
Type: dissertation
Study design: Observational Study
Abstract: Swallowing is an important biological function reliant on the coordinated interaction between motor and sensory mechanisms.Swallowing dysfunction (dysphagia) is a common sequela of neurodegenerative disease and is associated with significant morbidity and mortality.Dysphagia is associated with malnutrition, dehydration, and aspiration-related pneumonia, and psychological issues such as reduced self-esteem and social isolation.For individuals with movement disorders, dysphagia can be exacerbated by concurrent upper limb impairment, making it difficult to feed independently.Friedreich ataxia (FRDA) is an autosomal recessive condition resulting in a deficiency of frataxin, most commonly due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN.FRDA manifests in widespread central and peripheral nervous system degeneration, as well as impairment of the cardiac, skeletal, and endocrine systems.Pneumonia (a common implication of dysphagia) is the cause of death in approximately 10% of individuals with FRDA.Whilst dysphagia is a widely accepted feature of FRDA, understanding of the underlying mechanisms and characteristics of dysphagia in FRDA is limited.This project (and resulting thesis) sought to investigate and characterise the swallowing function of individuals with FRDA suspected of having dysphagia, and document the frequency of concomitant aspiration in this cohort.It was also aimed to determine relationship between oropharyngeal dysphagia and clinical markers of FRDA, including age at time of disease onset, disease duration, the GAA repeat size on the smaller (GAA1) and larger (GAA2) FXN allele.Predictors of aspiration in this cohort were also explored.In addition the psychosocial implications of dysphagia were considered using a standardised questionnaire.The study was largely cross-sectional in design, with a smaller group of individuals with FRDA receiving a 12 month follow up to investigate the relationship between dysphagia and disease progression.Results confirm oropharyngeal dysphagia with concomitant aspiration is present in individuals with FRDA and worsens with disease duration and severity.Aspiration in this population can occur at any time during the course of the disease, and therefore swallowing function should be monitored closely.Dysphagia was also shown to significantly affect the quality of life of individuals with FRDA compared to a group of healthy controls.The clinical implications of these findings are discussed along with future directions.First I wish to acknowledge the patients and families at the Friedreich Ataxia Clinic (Melbourne) for so willingly participating in this study.I have been humbled and touched by your stories, challenges and triumphs.Thank you.
Author: Megan Keage
Language: English
Subfield: Speech and Hearing
Field: Health Professions
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2623652731