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Background: Phenylketonuria (PKU) is an inborn error of metabolism affecting the conversion of phenylalanine (Phe) into tyrosine. Previous research has found cognitive and functional brain alterations in individuals with PKU even if treated early. However, little is known about working memory processing and its association with task performance and metabolic parameters. The aim of the present study was to examine neural correlates of working memory and its association with metabolic parameters in early-treated adults with PKU.
Methods: This cross-sectional study included 20 early-treated adults with PKU (mean age: 31.4 years ± 9.0) and 40 healthy controls with comparable age, sex, and education (mean age: 29.8 years ± 8.2). All participants underwent functional magnetic resonance imaging (fMRI) of working memory to evaluate the fronto-parietal working memory network. Fasting blood samples were collected from the individuals with PKU to acquire a concurrent plasma amino acid profile, and retrospective Phe concentrations were obtained to estimate an index of dietary control.
Results: On a cognitive level, early-treated adults with PKU displayed significantly lower accuracy but comparable reaction time in the working memory task compared to the control group. Whole-brain analyses did not reveal differences in working memory-related neural activation between the groups. Exploratory region-of-interest (ROI) analyses indicated reduced neural activation in the left and right middle frontal gyri and the right superior frontal gyrus in the PKU group compared to the control group. However, none of the ROI analyses survived correction for multiple comparisons. Neural activation was related to concurrent Phe, tyrosine, and tryptophan concentrations but not to retrospective Phe concentrations.
Conclusion: In early-treated adults with PKU, cognitive performance and neural activation are slightly altered, a result that is partly related to metabolic parameters. This study offers a rare insight into the complex interplay between metabolic parameters, neural activation, and cognitive performance in a sample of individuals with PKU.
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http://dx.doi.org/10.1016/j.nicl.2022.102974 | DOI Listing |
Front Hum Neurosci
August 2025
Baptist Medical Center, Department of Behavioral Health, Jacksonville, FL, United States.
Introduction: This study investigates four subdomains of executive functioning-initiation, cognitive inhibition, mental shifting, and working memory-using task-based functional magnetic resonance imaging (fMRI) data and graph analysis.
Methods: We used healthy adults' functional magnetic resonance imaging (fMRI) data to construct brain connectomes and network graphs for each task and analyzed global and node-level graph metrics.
Results: The bilateral precuneus and right medial prefrontal cortex emerged as pivotal hubs and influencers, emphasizing their crucial regulatory role in all four subdomains of executive function.
Front Genet
August 2025
Hunan Provincial Key Laboratory of Finance and Economics Big Data Science and Technology, Hunan University of Finance and Economics, Changsha, China.
RNA N4-acetylcytidine (ac4C) is a crucial chemical modification involved in various biological processes, influencing RNA properties and functions. Accurate prediction of RNA ac4C sites is essential for understanding the roles of RNA molecules in gene expression and cellular regulation. While existing methods have made progress in ac4C site prediction, they still struggle with limited accuracy and generalization.
View Article and Find Full Text PDFFront Psychol
August 2025
Department of Educational Psychology and Pedagogy, Faculty of Psychology, Lomonosov Moscow State University, Moscow, Russia.
Family socioeconomic status is broadly acknowledged to be associated with child development and wellbeing. However, the extent of this association across various dimensions of child development remains a topic of ongoing debate. This study aims to investigate the relationship between parental education and child cognitive and socioemotional skills, as well as the mediating role of children's leisure time activities, including screen time and shared book reading.
View Article and Find Full Text PDFPsychophysiology
September 2025
Shandong Provincial Key Laboratory of Brain Science and Mental Health, Faculty of Psychology, Shandong Normal University, Jinan, China.
"Metacontrol" refers to the ability to achieve an adaptive balance between more persistent and more flexible cognitive-control styles. Recent evidence from tasks focusing on the regulation of response conflict and of switching between tasks suggests a consistent relationship between aperiodic EEG activity and task conditions that are likely to elicit a more persistent versus more flexible control style. Here we investigated whether this relationship between metacontrol and aperiodic activity can also be demonstrated for working memory (WM).
View Article and Find Full Text PDFComput Biol Med
September 2025
Postgraduate Program in Computing, Center for Technological Development, Federal University of Pelotas, Pelotas, 96010-610, Rio Grande do Sul, Brazil.
In the task of image classification for emotion recognition, facial expression data is commonly used. However, electrical brain signals generated by neural activity provide data with greater integrity. We can capture these signals non-invasively using electroencephalogram (EEG) recording devices.
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