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Atypical response inhibition and error processing in 22q11.2 Deletion Syndrome and Schizophrenia: Towards neuromarkers of disease progression and risk

Ana A. Francisco, Douwe J. Horsthuis, Maryann Popiel, John J. Foxe, Sophie Molholm
doi: https://doi.org/10.1101/2020.04.29.068932
Ana A. Francisco
aThe Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA
bDepartment of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, New York, USA
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  • For correspondence: ana.alvesfrancisco@einsteinmed.org sophie.molholm@einsteinmed.org
Douwe J. Horsthuis
aThe Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA
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Maryann Popiel
cDepartment of Psychiatry, Jacobi Medical Center, Bronx, New York, USA
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John J. Foxe
aThe Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA
bDepartment of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, New York, USA
dThe Cognitive Neurophysiology Laboratory, Department of Neuroscience, The Ernest J. Del Monde Institute for Neuroscience, School of Medicine and Dentistry, University of Rochester, Rochester, New York, USA
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Sophie Molholm
aThe Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA
bDepartment of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, New York, USA
dThe Cognitive Neurophysiology Laboratory, Department of Neuroscience, The Ernest J. Del Monde Institute for Neuroscience, School of Medicine and Dentistry, University of Rochester, Rochester, New York, USA
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  • For correspondence: ana.alvesfrancisco@einsteinmed.org sophie.molholm@einsteinmed.org
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ABSTRACT

22q11.2 deletion syndrome (also known as DiGeorge syndrome or velo-cardio-facial syndrome) is characterized by increased vulnerability to neuropsychiatric symptoms, with approximately 30% of individuals with the deletion going on to develop schizophrenia. Clinically, deficits in executive function have been noted in this population, but the underlying neural processes are not well understood. Using 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 (a critical component of executive function) in individuals with 22q11.2DS with and without psychotic symptoms, when compared to individuals with idiopathic schizophrenia and age-matched neurotypical controls. Twenty-eight participants diagnosed with 22q11.2DS (14-35 years old; 14 with at least one psychotic symptom), 15 individuals diagnosed with schizophrenia (18-63 years old) and two neurotypical control groups (one age-matched to the 22q11.2DS sample, the other age-matched to the schizophrenia sample) participated in this study. Analyses focused on the N2 and P3 no-go responses and error-related negativity (Ne) and positivity (Pe). Atypical inhibitory processing was shown behaviorally and by significantly reduced P3, Ne, and Pe responses in 22q11.2DS and schizophrenia. Interestingly, whereas P3 was only reduced in the presence of psychotic symptoms, Ne and Pe were equally reduced in schizophrenia and 22q11.2DS, regardless of the presence of symptoms. We argue that while P3 may be a marker of disease severity, Ne and Pe might be candidate markers of risk.

Competing Interest Statement

The authors have declared no competing interest.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted May 01, 2020.
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Atypical response inhibition and error processing in 22q11.2 Deletion Syndrome and Schizophrenia: Towards neuromarkers of disease progression and risk
Ana A. Francisco, Douwe J. Horsthuis, Maryann Popiel, John J. Foxe, Sophie Molholm
bioRxiv 2020.04.29.068932; doi: https://doi.org/10.1101/2020.04.29.068932
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Atypical response inhibition and error processing in 22q11.2 Deletion Syndrome and Schizophrenia: Towards neuromarkers of disease progression and risk
Ana A. Francisco, Douwe J. Horsthuis, Maryann Popiel, John J. Foxe, Sophie Molholm
bioRxiv 2020.04.29.068932; doi: https://doi.org/10.1101/2020.04.29.068932

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