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Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria

Despite good control of phenylalanine (Phe) levels during childhood and adolescence, adults with phenylketonuria (PKU) often show abnormalities in the white matter of the brain, which have been associated with poorer cognitive performance. However, whether such a relationship exists with cortical gr...

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Autores principales: Muri, Raphaela, Maissen‐Abgottspon, Stephanie, Rummel, Christian, Rebsamen, Michael, Wiest, Roland, Hochuli, Michel, Jansma, Bernadette M., Trepp, Roman, Everts, Regula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9827942/
https://www.ncbi.nlm.nih.gov/pubmed/36117142
http://dx.doi.org/10.1002/jimd.12561
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author Muri, Raphaela
Maissen‐Abgottspon, Stephanie
Rummel, Christian
Rebsamen, Michael
Wiest, Roland
Hochuli, Michel
Jansma, Bernadette M.
Trepp, Roman
Everts, Regula
author_facet Muri, Raphaela
Maissen‐Abgottspon, Stephanie
Rummel, Christian
Rebsamen, Michael
Wiest, Roland
Hochuli, Michel
Jansma, Bernadette M.
Trepp, Roman
Everts, Regula
author_sort Muri, Raphaela
collection PubMed
description Despite good control of phenylalanine (Phe) levels during childhood and adolescence, adults with phenylketonuria (PKU) often show abnormalities in the white matter of the brain, which have been associated with poorer cognitive performance. However, whether such a relationship exists with cortical gray matter is still unknown. Therefore, we investigated cortical thickness and surface area in adults with early‐treated PKU and their relationship to cognitive functions and metabolic control. We included 30 adult patients with early‐treated and metabolically well‐controlled PKU (median age: 35.5 years) and 54 healthy controls (median age: 29.3 years). Surface‐based morphometry was derived from T1‐weighted magnetic resonance images using FreeSurfer, and general intelligence, executive functions, and attention were assessed. Concurrent plasma Phe, tyrosine, and tryptophan levels were measured in patients. In addition, Phe levels were collected retrospectively to calculate the index of dietary control. Patients showed a thinner cortex than controls in regions of the bilateral temporal, parietal, and occipital lobes (effect size r = −0.34 to −0.42, p < 0.05). No group differences in surface area were found. In patients, accuracy in the working memory task was positively correlated with thickness in the left insula (r = 0.45, p = 0.013), left fusiform gyrus (r = 0.39, p = 0.032), and right superior temporal gyrus (r = 0.41, p = 0.024), but did not survive false discovery rate correction. Neither concurrent nor historical metabolic parameters were related to cortical thickness. Taken together, adults with PKU showed widespread reductions in cortical thickness despite good metabolic control in childhood and adolescence. However, alterations in cortical thickness were unrelated to metabolic parameters and cognitive performance.
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spelling pubmed-98279422023-01-10 Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria Muri, Raphaela Maissen‐Abgottspon, Stephanie Rummel, Christian Rebsamen, Michael Wiest, Roland Hochuli, Michel Jansma, Bernadette M. Trepp, Roman Everts, Regula J Inherit Metab Dis Original Articles Despite good control of phenylalanine (Phe) levels during childhood and adolescence, adults with phenylketonuria (PKU) often show abnormalities in the white matter of the brain, which have been associated with poorer cognitive performance. However, whether such a relationship exists with cortical gray matter is still unknown. Therefore, we investigated cortical thickness and surface area in adults with early‐treated PKU and their relationship to cognitive functions and metabolic control. We included 30 adult patients with early‐treated and metabolically well‐controlled PKU (median age: 35.5 years) and 54 healthy controls (median age: 29.3 years). Surface‐based morphometry was derived from T1‐weighted magnetic resonance images using FreeSurfer, and general intelligence, executive functions, and attention were assessed. Concurrent plasma Phe, tyrosine, and tryptophan levels were measured in patients. In addition, Phe levels were collected retrospectively to calculate the index of dietary control. Patients showed a thinner cortex than controls in regions of the bilateral temporal, parietal, and occipital lobes (effect size r = −0.34 to −0.42, p < 0.05). No group differences in surface area were found. In patients, accuracy in the working memory task was positively correlated with thickness in the left insula (r = 0.45, p = 0.013), left fusiform gyrus (r = 0.39, p = 0.032), and right superior temporal gyrus (r = 0.41, p = 0.024), but did not survive false discovery rate correction. Neither concurrent nor historical metabolic parameters were related to cortical thickness. Taken together, adults with PKU showed widespread reductions in cortical thickness despite good metabolic control in childhood and adolescence. However, alterations in cortical thickness were unrelated to metabolic parameters and cognitive performance. John Wiley & Sons, Inc. 2022-09-27 2022-11 /pmc/articles/PMC9827942/ /pubmed/36117142 http://dx.doi.org/10.1002/jimd.12561 Text en © 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Original Articles
Muri, Raphaela
Maissen‐Abgottspon, Stephanie
Rummel, Christian
Rebsamen, Michael
Wiest, Roland
Hochuli, Michel
Jansma, Bernadette M.
Trepp, Roman
Everts, Regula
Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria
title Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria
title_full Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria
title_fullStr Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria
title_full_unstemmed Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria
title_short Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria
title_sort cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9827942/
https://www.ncbi.nlm.nih.gov/pubmed/36117142
http://dx.doi.org/10.1002/jimd.12561
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