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Hand fine motor control in classic galactosemia
Jessica MacWilliams1,2, Sneh Patel3, Grace Carlock1
1Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Journal of Inherited Metabolic Disease
|March 15, 2021
Summary
Classic galactosemia (CG) patients exhibit significant hand fine motor deficits, including tremor, despite dietary management. Digital drawing analysis effectively quantifies these motor control impairments in individuals with CG.
Area of Science:
- Metabolic Disorders
- Neuroscience
- Pediatrics
Background:
- Classic galactosemia (CG) is a rare genetic metabolic disorder caused by galactose-1-P uridylyltransferase (GALT) deficiency.
- Current management involves lifelong galactose restriction, but motor complications persist in most patients.
Purpose of the Study:
- To characterize hand fine motor control deficits in children and adults with classic galactosemia.
- To evaluate digital drawing assessment using Neuroglyphics software for quantifying motor control in CG.
Main Methods:
- Collected digital Archimedes spiral drawings from 57 CG patients and 80 controls via touchscreen.
- Quantified hand fine motor control using root mean square (RMS) error against an idealized template.
- Assessed tremor presence based on drawing speed/direction periodicity in the 4-8 Hz range.
Main Results:
- CG patients showed significantly higher RMS scores (P < .001) compared to controls, with 51% of cases outside the 95th percentile.
- Over 35% of CG patients exhibited tremor amplitude above the control 95th percentile cutoff.
- Digital assessment revealed significant differences in motor control between CG cases and controls.
Conclusions:
- Confirms and extends understanding of hand fine motor control deficits in classic galactosemia.
- Digital drawing analysis is a valuable tool for quantifying motor outcomes in CG.
- Highlights the need for further research into managing motor complications in CG.
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