Investigating Whether or Not Long-Term Outcomes in Classic Galactosemia are Progressive Public
Orloff, Danielle (Spring 2023)
Abstract
Classic galactosemia (CG) is a rare autosomal recessive disorder that arises from a profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), an enzyme necessary for galactose metabolism. Despite early detection of the disease and immediate restriction of dietary galactose, individuals with CG can still encounter long-term complications. A majority of the existing cross-sectional and longitudinal studies of speech, cognitive, motor, and reproductive outcomes in CG suggest that the disorder is not progressive. However, this point remains controversial. The objective of this study was to utilize a subset of participants enrolled in an ongoing case-control observational study to explore whether or not long-term outcomes in CG are progressive. CG cases and control participants were invited to complete a series of surveys that inquired about known long-term outcomes in CG. Based on survey responses, a subset of participants who completed all initial surveys (82 CG cases and 50 controls) were assigned scores to represent the severity of each health outcome experienced for cross-sectional analyses. Additionally, participants were invited to designate someone to complete the Vineland Adaptive Behavior Scales. All participants whose assessment was completed on their behalf (102 CG cases and 67 controls) were included in this investigation. Results indicated that a majority of participants perceived no changes or improvements to their adverse outcomes over time. In addition, when comparing the severity of health outcomes by CG status, scores for the severity of outcomes experienced by CG cases decreased or remained stagnant over time. Results from the Vineland-3 assessment indicated a general increase in subdomain raw scores of both CG cases and controls over time, though CG cases did have significantly lower raw scores in younger age groups. This suggests that while younger CG cases may struggle to reach milestones at the same pace as their peers, CG cases in adulthood are not losing adaptive behaviors they had previously achieved. The results from this thesis will allow for more accurate prognostic information that will help families with CG in planning for the future as well as inform how future interventions would best be used to treat patients with the disorder.
Table of Contents
Chapter 1: Genetics of Galactosemia and Biochemistry of Galactose Metabolism 1
Chapter 2: Cross-Sectional Analysis of the Severity of Health Outcomes Experienced by Individuals with Classic Galactosemia Over Time 11
Chapter 3: Cross-Sectional Analysis of Adaptive Behaviors of Individuals with Classic Galactosemia Measured Using Vineland-3 32
Chapter 4: Discussion 50
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