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

Muri, Raphaela; Maissen-Abgottsponn, Stephanie; Rummel, Christian; Rebsamen, Michael; Wiest, Roland; Hochuli, Michel; Jansma, Bernadette M; Trepp, Roman; Everts, Regula (2022). Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria. Journal of inherited metabolic disease, 45(6), pp. 1082-1093. Wiley 10.1002/jimd.12561

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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 subtle cognitive impairments. However, whether such a relationship exists with cortical gray matter (GM) 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 MRI 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 =-.34 to -.42, p<.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=.45, p=.013), left fusiform gyrus (r=.39, p=.032), and right superior temporal gyrus (r=.41, p=.024), but did not survive FDR correction. Neither concurrent nor historical metabolic parameters were related to cortical thickness. 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. This article is protected by copyright. All rights reserved.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic and Interventional Neuroradiology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Endocrinology, Diabetology and Clinical Nutrition

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Muri, Raphaela; Maissen, Stephanie; Rummel, Christian; Rebsamen, Michael Andreas; Wiest, Roland Gerhard Rudi; Hochuli, Michel; Trepp, Roman and Everts, Regula

Subjects:

600 Technology > 610 Medicine & health
500 Science > 570 Life sciences; biology

ISSN:

1573-2665

Publisher:

Wiley

Language:

English

Submitter:

Anette van Dorland

Date Deposited:

21 Sep 2022 14:34

Last Modified:

29 Nov 2022 14:16

Publisher DOI:

10.1002/jimd.12561

PubMed ID:

36117142

Uncontrolled Keywords:

brain structure cognition cortical thickness gray matter phenylketonuria working memory

BORIS DOI:

10.48350/173094

URI:

https://boris.unibe.ch/id/eprint/173094

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