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A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I
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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689061/ https://www.ncbi.nlm.nih.gov/pubmed/26693825 http://dx.doi.org/10.1186/s13023-015-0379-6 |
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author | Boy, Nikolas Heringer, Jana Haege, Gisela Glahn, Esther M. Hoffmann, Georg F. Garbade, Sven F. Kölker, Stefan Burgard, Peter |
author_facet | Boy, Nikolas Heringer, Jana Haege, Gisela Glahn, Esther M. Hoffmann, Georg F. Garbade, Sven F. Kölker, Stefan Burgard, Peter |
author_sort | Boy, Nikolas |
collection | PubMed |
description | 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13023-015-0379-6) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-4689061 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-46890612015-12-24 A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I Boy, Nikolas Heringer, Jana Haege, Gisela Glahn, Esther M. Hoffmann, Georg F. Garbade, Sven F. Kölker, Stefan Burgard, Peter Orphanet J Rare Dis Research 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13023-015-0379-6) contains supplementary material, which is available to authorized users. BioMed Central 2015-12-22 /pmc/articles/PMC4689061/ /pubmed/26693825 http://dx.doi.org/10.1186/s13023-015-0379-6 Text en © Boy et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Boy, Nikolas Heringer, Jana Haege, Gisela Glahn, Esther M. Hoffmann, Georg F. Garbade, Sven F. Kölker, Stefan Burgard, Peter A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I |
title | A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I |
title_full | A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I |
title_fullStr | A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I |
title_full_unstemmed | A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I |
title_short | A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I |
title_sort | cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type i |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689061/ https://www.ncbi.nlm.nih.gov/pubmed/26693825 http://dx.doi.org/10.1186/s13023-015-0379-6 |
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