Hand Fine Motor Control Quantification in Children and Adults with Classic Galactosemia Open Access

MacWilliams, Jessica (Summer 2019)

Permanent URL: https://etd.library.emory.edu/concern/etds/p5547s54c?locale=en


Classic galactosemia (CG) is a rare inborn error of galactose metabolism that results from reduced or deficient activity of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Motor control problems are a known outcome of classic galactosemia. This study made use of a publically available software called Neuroglyphics (NG) and a digitizing tablet to quantitatively score Archimedes spirals drawn by a sample 53 CG participants and 80 controls. The purpose of this study was to use NG software to determine the proportion of children and adults with CG affected by motor control problems. Additionally, we asked if participants with CG exhibited a lack of dominant hand advantage, and if there was a difference between males and females in motor outcomes. Results indicated that about 30-35% of adults and children with classic galactosemia were affected by motor control problems. Additionally, about 66% of those affected exhibited no dominant hand advantage, meaning their dominant hand did not perform significantly better than their non-dominant hand. No difference in motor control was found between males and females. Neuroglyphics is a quick and effective tool for measuring motor control problems in patients with classic galactosemia and will be advantageous for measuring motor outcomes in future clinical trials and/or intervention studies.

Table of Contents

Chapter 1: Galactosemia Genetics and Biochemistry

Chapter 2: A Subset of Children and Adults with Classic Galactosemia Exhibit No Dominant Hand Advantage in Fine Motor Control

Chapter 3: Children and Adults with Classic Galactosemia Have More Error in Archimedes Spiral Drawings Than Age-Matched Controls

Chapter 4: No Hand Fine-Motor Control Differences Found Between Males and Females with Classic Galactosemia

Chapter 5: Discussion and Future Directions

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