Abstract | BACKGROUND: MATERIALS AND METHODS: In total, 81 participants were recruited as part of a larger urea cycle disorder imaging consortium study. There were 25 symptomatic participants (18 female, 7 male, 25.6 year s ± 12.72 years), 20 asymptomatic participants (20 female, 0 male, 37.6 years ± 15.19 years), and 36 healthy control participants (21 female, 15 male, 29.8 years ± 13.39 years). All participants gave informed consent to participate and were then given neurocognitive batteries with standard scores and T scores recorded. RESULTS: When stratified by symptomatic participant, asymptomatic carrier, and control, the results showed significant differences in measures of executive function (e.g. CTMT and Stroop) and motor ability (Purdue Assembly) between all groups tested. Simple attention, academic measures, language and non-verbal motor abilities showed no significant differences between asymptomatic carriers and control participants, however, there were significant differences between symptomatic and control participant performance in these measures. CONCLUSIONS: In our study, asymptomatic carriers of OTCD showed no significant differences in cognitive function compared to control participants until they were cognitively challenged with fine motor tasks, measures of executive function, and measures of cognitive flexibility. This suggests that cognitive dysfunction is best measurable in asymptomatic carriers after they are cognitively challenged.
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Authors | Courtney Sprouse, Jessica King, Guy Helman, Ileana Pacheco-Colón, Kyle Shattuck, Andrew Breeden, Rebecca Seltzer, John W VanMeter, Andrea L Gropman |
Journal | Molecular genetics and metabolism
(Mol Genet Metab)
2014 Sep-Oct
Vol. 113
Issue 1-2
Pg. 136-41
ISSN: 1096-7206 [Electronic] United States |
PMID | 24881970
(Publication Type: Journal Article, Research Support, N.I.H., Extramural)
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Copyright | Copyright © 2014 Elsevier Inc. All rights reserved. |
Topics |
- Adolescent
- Adult
- Child
- Cognition Disorders
(diagnosis, etiology, physiopathology)
- Heterozygote
- Humans
- Middle Aged
- Neuropsychological Tests
- Ornithine Carbamoyltransferase Deficiency Disease
(complications, genetics)
- Psychomotor Performance
- Young Adult
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