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Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability

OBJECTIVE: To determine the cognitive profile of adult patients with mitochondrial disease, and the effect of disease severity on cognition. METHODS: Using a prospective case‐control design, we compared cognition of patients to normative data and to matched controls, assessed three times over 18 mon...

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Autores principales: Moore, Heather L., Kelly, Thomas, Bright, Alexandra, Field, Robert H., Schaefer, Andrew M., Blain, Alasdair P., Taylor, Robert W., McFarland, Robert, Turnbull, Doug M., Gorman, Gráinne S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6529924/
https://www.ncbi.nlm.nih.gov/pubmed/31139680
http://dx.doi.org/10.1002/acn3.736
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author Moore, Heather L.
Kelly, Thomas
Bright, Alexandra
Field, Robert H.
Schaefer, Andrew M.
Blain, Alasdair P.
Taylor, Robert W.
McFarland, Robert
Turnbull, Doug M.
Gorman, Gráinne S.
author_facet Moore, Heather L.
Kelly, Thomas
Bright, Alexandra
Field, Robert H.
Schaefer, Andrew M.
Blain, Alasdair P.
Taylor, Robert W.
McFarland, Robert
Turnbull, Doug M.
Gorman, Gráinne S.
author_sort Moore, Heather L.
collection PubMed
description OBJECTIVE: To determine the cognitive profile of adult patients with mitochondrial disease, and the effect of disease severity on cognition. METHODS: Using a prospective case‐control design, we compared cognition of patients to normative data and to matched controls, assessed three times over 18 months. Forty‐nine patients with m.3243A>G (N = 36) and m.8344A>G (N = 13) mtDNA mutations and 32 controls, matched by age (±5 years) and premorbid cognition (±10 WTAR FSIQ points), participated. Participants completed neuropsychological assessments of general cognition (WAIS‐IV), executive function (D‐KEFS), and memory (WMS‐IV). Potential predictors of cognition were explored. RESULTS: Patients show mild‐to‐moderate premorbid cognitive impairment, but substantial impairment in current general cognition and distinct domains, including verbal comprehension, perceptual reasoning, working memory, processing speed, and memory retrieval. Executive dysfunction may be caused by slower decision‐making. Patients performed worse than controls, except on memory tasks, indicating intact memory, when premorbid cognition is controlled for. Premorbid cognition and disease severity were consistent predictors of cognition in patients; however, cognitive decline appears slow and is unlikely in the short‐term, when other disease‐specific factors remain stable. INTERPRETATION: Patients should be monitored to facilitate early identification of a complex profile of cognitive deficits and individuals with higher disease burden should be followed up more closely. On development of cognitive difficulties, appropriate compensatory strategies should be determined through in‐depth assessment. Using strategies such as slower presentation of information, multiple modes of presentation, active discussion to aid understanding and decision‐making, and use of memory aids, may ameliorate difficulties.
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spelling pubmed-65299242019-05-28 Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability Moore, Heather L. Kelly, Thomas Bright, Alexandra Field, Robert H. Schaefer, Andrew M. Blain, Alasdair P. Taylor, Robert W. McFarland, Robert Turnbull, Doug M. Gorman, Gráinne S. Ann Clin Transl Neurol Research Articles OBJECTIVE: To determine the cognitive profile of adult patients with mitochondrial disease, and the effect of disease severity on cognition. METHODS: Using a prospective case‐control design, we compared cognition of patients to normative data and to matched controls, assessed three times over 18 months. Forty‐nine patients with m.3243A>G (N = 36) and m.8344A>G (N = 13) mtDNA mutations and 32 controls, matched by age (±5 years) and premorbid cognition (±10 WTAR FSIQ points), participated. Participants completed neuropsychological assessments of general cognition (WAIS‐IV), executive function (D‐KEFS), and memory (WMS‐IV). Potential predictors of cognition were explored. RESULTS: Patients show mild‐to‐moderate premorbid cognitive impairment, but substantial impairment in current general cognition and distinct domains, including verbal comprehension, perceptual reasoning, working memory, processing speed, and memory retrieval. Executive dysfunction may be caused by slower decision‐making. Patients performed worse than controls, except on memory tasks, indicating intact memory, when premorbid cognition is controlled for. Premorbid cognition and disease severity were consistent predictors of cognition in patients; however, cognitive decline appears slow and is unlikely in the short‐term, when other disease‐specific factors remain stable. INTERPRETATION: Patients should be monitored to facilitate early identification of a complex profile of cognitive deficits and individuals with higher disease burden should be followed up more closely. On development of cognitive difficulties, appropriate compensatory strategies should be determined through in‐depth assessment. Using strategies such as slower presentation of information, multiple modes of presentation, active discussion to aid understanding and decision‐making, and use of memory aids, may ameliorate difficulties. John Wiley and Sons Inc. 2019-03-27 /pmc/articles/PMC6529924/ /pubmed/31139680 http://dx.doi.org/10.1002/acn3.736 Text en © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Moore, Heather L.
Kelly, Thomas
Bright, Alexandra
Field, Robert H.
Schaefer, Andrew M.
Blain, Alasdair P.
Taylor, Robert W.
McFarland, Robert
Turnbull, Doug M.
Gorman, Gráinne S.
Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
title Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
title_full Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
title_fullStr Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
title_full_unstemmed Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
title_short Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
title_sort cognitive deficits in adult m.3243a>g‐ and m.8344a>g‐related mitochondrial disease: importance of correcting for baseline intellectual ability
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6529924/
https://www.ncbi.nlm.nih.gov/pubmed/31139680
http://dx.doi.org/10.1002/acn3.736
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