Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties.

Autor:	Francisco AA; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA., Foxe JJ; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, New York, USA.; The Frederick J. and Marion A. Schindler Cognitive Neurophysiology Laboratory, Ernest J. Del Monte Institute for Neuroscience & Department of Neuroscience, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA., Berruti A; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA., Horsthuis DJ; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA., Molholm S; The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, New York, USA.; The Frederick J. and Marion A. Schindler Cognitive Neurophysiology Laboratory, Ernest J. Del Monte Institute for Neuroscience & Department of Neuroscience, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
Jazyk:	angličtina
Zdroj:	BioRxiv : the preprint server for biology [bioRxiv] 2023 Apr 02. Date of Electronic Publication: 2023 Apr 02.
DOI:	10.1101/2023.03.31.535145
Abstrakt:	Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy, necessitating deeper understanding of its impact on neurocognitive function. Behaviorally, some deficits in executive function have been noted in this population, but the underlying neural processes are not understood. Using standardized cognitive assessments and a Go/No-Go response inhibition task in conjunction with high-density electrophysiological recordings (EEG), we sought to investigate the behavioral and neural dynamics of inhibition of a prepotent response and of error monitoring (critical components of executive function) in individuals with cystinosis, when compared to age-matched controls. Thirty-seven individuals diagnosed with cystinosis (7-36 years old, 24 women) and 45 age-matched controls (27 women) participated in this study. Analyses focused on N2 and P3 No-Go responses and error-related positivity (Pe). Atypical inhibitory processing was shown behaviorally. Electrophysiological differences were additionally found between the groups, with individuals with cystinosis showing larger No-Go P3s. Error-monitoring was likewise different between the groups, with those with cystinosis showing reduced Pe amplitudes. Competing Interests: COMPETING INTERESTS The authors declare no conflicts of interest.
Databáze:	MEDLINE
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