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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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<a href="http://doi.org/10.1186/s13023-015-0379-6" target="_blank" rel="noreferrer noopener">http://doi.org/10.1186/s13023-015-0379-6</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type i
Publisher
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Orphanet Journal of Rare Diseases
Date
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2015
Subject
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adolescent; cognition; cross sectional study; Dystonia; metabolic disorder; human; article; child; female; male; controlled study; adult; clinical article; dystonia/di [Diagnosis]; Barry Albright Dystonia Scale; cognitive development; Cognitive development; continuous performance test; enzyme deficiency; glutaric aciduria type I; Glutaric aciduria type I; Information processing; motor dysfunction; motor performance; neurologic disease assessment; newborn screening; response time; visual memory; visuomotor coordination; working memory; tone and motor problems; Glutaric acidemia type I; trajectory; characteristics
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Boy N; Heringer J; Haege G; Glahn E M; Hoffmann G F; Garbade S F; Kolker S; Burgard P
Description
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Background: Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail. Methods: Thirty patients detected by newborn screening (n = 13), high-risk screening (n = 3) or targeted metabolic testing (n = 14) were studied for simple reaction time (SRT), continuous performance (CP), visual working memory (VWM), visual-motor coordination (Tracking) and visual search (VS). Dystonia (n = 13 patients) was categorized using the Barry-Albright-Dystonia Scale (BADS). Patients were compared with 196 healthy controls. Developmental functions of cognitive performances were analysed using a negative exponential function model. Results: BADS scores correlated with speed tests but not with tests measuring stability or higher cognitive functions without time constraints. Developmental functions of GA-I patients significantly differed from controls for SRT and VS but not for VWM and showed obvious trends for CP and Tracking. Dystonic patients were slower in SRT and CP but reached their asymptote of performance similar to asymptomatic patients and controls in all tests. Asymptomatic patients did not differ from controls, except showing significantly better results in Tracking and a trend for slower reactions in visual search. Data across all age groups of patients and controls fitted well to a model of negative exponential development. Conclusions: Dystonic patients predominantly showed motor speed impairment, whereas performance improved with higher cognitive load. Patients without motor symptoms did not differ from controls. Developmental functions of cognitive performances were similar in patients and controls. Performance in tests with higher cognitive demand might be preserved in GA-I, even in patients with striatal degeneration. Copyright © 2015 Boy et al.
Identifier
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<a href="http://doi.org/10.1186/s13023-015-0379-6" target="_blank" rel="noreferrer noopener">10.1186/s13023-015-0379-6</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2015
Adolescent
Adult
Article
Barry Albright Dystonia Scale
Boy N
Burgard P
characteristics
Child
Clinical Article
Cognition
cognitive development
continuous performance test
Controlled Study
Cross Sectional Study
Dystonia
dystonia/di [Diagnosis]
enzyme deficiency
Female
Garbade S F
Glahn E M
Glutaric acidemia type I
glutaric aciduria type I
Haege G
Heringer J
Hoffmann G F
Human
Information Processing
Kolker S
Male
Metabolic Disorder
motor dysfunction
motor performance
neurologic disease assessment
newborn screening
Orphanet Journal Of Rare Diseases
response time
tone and motor problems
Trajectory
visual memory
visuomotor coordination
working memory