Exploratory case study of monozygotic twins with 22q11.2DS provides further clues to circumscribe neurocognitive markers of psychotic symptoms

Autor: Elodie Peyroux, Nicolas Franck, Jean-Yves Baudouin, Emilie Favre, Caroline Demily, Arnaud Leleu
Přispěvatelé: Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Développement, Individu, Processus, Handicap, Éducation (DIPHE), Université Lumière - Lyon 2 (UL2), Institut des Sciences Cognitives (ISC), Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Baudouin, Jean-Yves, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB), Favre, Emilie
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Male
Emotions
Psychotic symptoms
courbe de fréquence
perception
Electroencephalography
22q11.2DS
22q11.2 deletion syndrome

Facial recognition system
lcsh:RC346-429
[SCCO]Cognitive science
0302 clinical medicine
FISH
fluorescent in situ hybridization

ComputingMilieux_MISCELLANEOUS
media_common
Cerebral Cortex
medicine.diagnostic_test
05 social sciences
symptôme
Regular Article
22q11.2DS
Penetrance
phénotype
Endophenotype
CHG-Array
complete genomic hybridization

Neurology
Social Perception
[SCCO.PSYC] Cognitive science/Psychology
[SCCO.PSYC]Cognitive science/Psychology
lcsh:R858-859.7
Psychology
Facial Recognition
EEG
electroencephalography

Clinical psychology
Adult
Endophenotypes
Cognitive Neuroscience
media_common.quotation_subject
psychosomatique
lcsh:Computer applications to medicine. Medical informatics
050105 experimental psychology
électroencéphalographie
03 medical and health sciences
Facial expression perception
Young Adult
Psychologie (Sciences cognitives)
Perception
medicine
DiGeorge Syndrome
Humans
0501 psychology and cognitive sciences
Radiology
Nuclear Medicine and imaging

PANSS
Positive And Negative Syndrome Scale

lcsh:Neurology. Diseases of the nervous system
Facial expression
Frequency-tagging
[SCCO] Cognitive science
Twins
Monozygotic

expression faciale
Twin study
FEP measurement
Facial expression perception measurement

Psychotic Disorders
22q11.2ds
facial expression perception
endophenotype
psychotic symptoms
frequency-tagging
electroencephalography
Neurology (clinical)
Neurocognitive
030217 neurology & neurosurgery
Biomarkers
Zdroj: NeuroImage : Clinical
Neuroimage-Clinical
Neuroimage-Clinical, Elsevier, 2019, 24, pp.101987. ⟨10.1016/j.nicl.2019.101987⟩
Neuroimage-Clinical, 2019, 24, pp.101987. ⟨10.1016/j.nicl.2019.101987⟩
NeuroImage: Clinical, Vol 24, Iss, Pp-(2019)
NeuroImage. Clinical (24), 101987. (2019)
ISSN: 2213-1582
DOI: 10.1016/j.nicl.2019.101987⟩
Popis: Variation in facial emotion processing abilities may contribute to variability in penetrance for psychotic symptoms in 22q11.2DS. However, the precise nature of the social cognitive dysfunction (i.e., facial expression perception vs. emotion recognition), the potential additional roles of genetic and environmental variabilities, and consequently the possibility of using this neurocognitive marker in clinical monitoring remain unclear. The present case study aimed at testing the hypothesis that when confounding factors are controlled, the presence of psychotic symptoms in 22q11.2DS is associated, at the individual level, with a neural marker of facial expression perception rather than explicit emotional face recognition. Two monozygotic twins with 22q11.2DS discordant for psychiatric manifestations performed (1) a classical facial emotion labelling task and (2) an implicit neural measurement of facial expression perception using a frequency-tagging approach in electroencephalography (EEG). Analysis of the periodic brain response elicited by a change of facial expression from neutrality indicated that the twin with psychotic symptoms did not detect emotion among neutral faces while the twin without the symptoms did. In contrast, both encountered difficulties labelling facial emotion. The results from this exploratory twin study support the idea that impaired facial expression perception rather than explicit recognition of the emotion expressed might be a neurocognitive endophenotype of psychotic symptoms that could be reliable at a clinical level. Although confirmatory studies should be required, it facilitates further discussion on the etiology of the clinical phenotype in 22q11.2DS.
Highlights • Study design is a privileged opportunity to highlight reliable endophenotypes of psychiatric symptoms at an individual level • Impaired facial expression perception rather than explicit recognition might be an endophenotype of psychotic symptoms • Further discussion on the etiology of the incomplete penetrance for psychotic symptoms in 22q11.2DS
Databáze: OpenAIRE