.Laboratoire de Psychologie et Neurocognition, University of Grenoble, France .Developmental Im... more .Laboratoire de Psychologie et Neurocognition, University of Grenoble, France .Developmental Imaging and Psychopathology lab, Faculty of Medicine, University of Geneva, Switzerland, [email protected]; [email protected]; [email protected] .Faculty of Psychology and Educational Sciences, University of Geneva, Switzerland, [email protected]; [email protected] .Centre de Génétique & FHU-TRANSLAD, Hospital and University of Dijon, France, [email protected]; [email protected] 5.School of Psychology, University of Aberdeen, UK, [email protected]
La microdeletion 22q1 1 .2 (del22qll) est un syndrome neurogenetique considere comme un modele ge... more La microdeletion 22q1 1 .2 (del22qll) est un syndrome neurogenetique considere comme un modele genetique de la schizophrenie. Comme dans la schizophrenie, le syndrome est caracterise par la presence de symptomes positifs (ex. hallucinations, delires) et negatifs (anhedonie, retrait social) distincts. Dans ce projet, nous proposons d'examiner les facteurs de risques en lien avec les symptomes negatifs ainsi que leurs reseaux cerebraux sous jacents selon deux axes principaux : les processus lies aux recompense et la cognition sociale. Au travers de ce projet nous avons montre des alterations specifiques aux traitements des informations sociales dans la del22q11. Au niveau cerebraL les differentes etudes pointent le role du cortex cingulaire posterieur dans les deficits a la fois des processus lies aux recompenses et de perception sociale. Base sur ces resultats, nous avons propose un modele theorique permettant de rendre compte des deficits de motivation sociale dans la del22qll.
Background: Negative symptoms and social dysfunction are core features of the 22q11.2 deletion sy... more Background: Negative symptoms and social dysfunction are core features of the 22q11.2 deletion syndrome (22q11DS). Negative symptoms have been conceptualized as pathology of goal-directed-behaviors. Moreover, goal-directed-behaviors also appear to be a crucial step of social interactions. However, in 22q11DS, the extent to which goaldirected-behavior could be linked to social functioning difficulties and negative symptoms has never been examined. Method: Verbal and nonverbal initiation was measured using the verbal fluency and figural fluency tasks in 93 individuals with 22q11DS and 57 healthy controls aged between 8 and 30 years in order to assess goal-directed-behavior ability. The associations between initiation scores and social functioning/negative symptoms were investigated. In addition, the effect of COMT Val/Met polymorphism on initiation competences was examined. Results: Results revealed diminished verbal and nonverbal initiation ability in 22q11DS individuals compared to controls. A positive correlation between verbal initiation and social functioning was found as well as between verbal initiation and negative symptoms, in particular social anhedonia. No differences in terms of initiation scores were found between individuals with 22q11DS carrying Met and Val polymorphism. Conclusion: Results indicate impaired goal-directed-behavior in the 22q11DS population. These deficits seem to support social functioning impairments frequently observed in the 22q11DS and to a lesser extent the expression of negative symptoms.
The 22q11.2 deletion (22q11DS) syndrome is a neurogenetic condition marked by social dysfunction.... more The 22q11.2 deletion (22q11DS) syndrome is a neurogenetic condition marked by social dysfunction. A major network involved in social cognition is the default mode network (DMN). To date, no study has investigated DMN functional connectivity during socio-cognitive paradigms in 22q11DS. Method: We used the psychophysiological analysis (PPI) to investigate functional connectivity of the DMN during social perception in 22 participants with 22q11DS and 22 healthy controls. Association between DMN connectivity and prodromal symptoms was also examined. Results: 22q11DS patients exhibited stronger connectivity between the inferior parietal lobule (IPL) and the posterior cingulate cortex (PCC)/precuneus as well as lower connectivity between the precuneus and middle/ superior frontal regions compared to controls. Association between IPL-PCC/precuneus connectivity and negative symptoms was also found in individuals with 22q11DS. Conclusion: Our results point to (1) divergent DMN connectivity in patients with 22q11DS compared to controls; (2) association between DMN connectivity and negative symptom severity in patients. Results support the role of the DMN in social deficits of the 22q11DS population.
Background: 22q11.2 Deletion syndrome (22q11.2DS) is the most common known microdeletion in human... more Background: 22q11.2 Deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2,000-4,000 live births, with increasing numbers of individuals with the micro-deletion living into adulthood. The aim of the study was to explore the education and employment trajectories of individuals with 22q11.2DS from childhood to adulthood in a large cohort composed of two significant samples. Methods: 260 individuals with 22q11.2DS, 134 male and 126 female, aged 5 to 59 years (mean age 21.3 ± 10.8 years) were evaluated at two sites, Geneva (GVA) and Tel Aviv (TA). Psychiatric comorbidities, IQ score, and adaptive functioning were assessed using gold-standard diagnostic tools. Demographic factors, data about education, employment, marital status, and living status were collected. Results: Children entering elementary school (5-12 years) were significantly more likely to attend a mainstream school, while adolescents were significantly more likely to attend special education schools (p<0.005). Cognitive abilities and not adaptive functioning, predicted school placement. Among adults with 22q11.2DS (n= 138), fifty-seven (41.3%) were unemployed, 46 (33.3%) were employed in open market employment, 35 (25.4%) worked in assisted employment. In adulthood, adaptive functioning more than cognitive abilities predicted employment. Surprisingly, psychotic spectrum disorders were not found to be associated with employment. Conclusions: Individuals with 22q11.2DS are characterized by heterogeneity in educational and employment profiles. We found that cognitive abilities and adaptive functioning, and not the presence of psychiatric disorders, are key factors in school placement and employment. These 3 factors should therefore be taken into account when planning optimal development of individuals with 22q11.2DS.
Difficulties with prospective memory are frequently reported following pediatric traumatic brain ... more Difficulties with prospective memory are frequently reported following pediatric traumatic brain injury (TBI), but rarely researched. We aimed to (i) investigate time-based prospective memory post-pediatric TBI; (ii) examine whether time-based prospective memory is differentially impacted by the demand placed on working memory; and (iii) explore which components of working memory (viz., central executive, phonological loop, and visuospatial sketchpad) are involved in time-based prospective memory under low and high cognitive load following pediatric TBI. Thirty-nine children and adolescents (20 survivors of moderate-severe TBI and 19 healthy controls) completed (i) a newly developed time-based prospective memory task (TBPMT), embedded in an ongoing lexical-decision task, with two conditions: low and high working memory load; and (ii) tests of working memory components from the Automated Working Memory Assessment. Compared to controls, participants with TBI had significantly lower pr...
Please check your proof carefully and mark all corrections at the appropriate place in the proof ... more Please check your proof carefully and mark all corrections at the appropriate place in the proof (e.g., by using on-screen annotation in the PDF file) or compile them in a separate list. Note: if you opt to annotate the file with software other than Adobe Reader then please also highlight the appropriate place in the PDF file. To ensure fast publication of your paper please return your corrections within 48 hours.
Alterations of the reward system have been proposed as one of the core mechanisms underlying the ... more Alterations of the reward system have been proposed as one of the core mechanisms underlying the expression of negative symptoms in schizophrenia. Specifically, deficits in specific reward components and white matter (WM) integrity of the reward system have been highlighted. The putative link between negative symptoms and the hedonic experience, or structural connectivity of the reward system has never been examined in the 22q11.2 deletion syndrome (22q11DS), a condition with increased risk for psychosis. Anticipatory and consummatory dimensions of pleasure were assessed in participants with 22q11DS (N = 54) and healthy controls (N = 55). In patients with 22q11DS, the association between pleasure scores and positive or negative symptoms was investigated. Furthermore, WM integrity of the accumbofrontal tract was quantified using diffusion tensor imaging (DTI). Associations between DTI measures, pleasure dimensions and negative symptoms were examined. Patients with 22q11DS showed redu...
Background: Social impairments are described as a common feature of the 22q11.2 deletion syndrome... more Background: Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception. Methods: We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content. Results: Neural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social × valence interaction impairment was found in patients. Conclusions: Our results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals.
Journal of Neurodevelopmental Disorders, Apr 10, 2018
Background: Social impairments are described as a common feature of the 22q11.2 deletion syndrome... more Background: Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception. Methods: We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content. Results: Neural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social × valence interaction impairment was found in patients. Conclusions: Our results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals.
.Laboratoire de Psychologie et Neurocognition, University of Grenoble, France .Developmental Im... more .Laboratoire de Psychologie et Neurocognition, University of Grenoble, France .Developmental Imaging and Psychopathology lab, Faculty of Medicine, University of Geneva, Switzerland, [email protected]; [email protected]; [email protected] .Faculty of Psychology and Educational Sciences, University of Geneva, Switzerland, [email protected]; [email protected] .Centre de Génétique & FHU-TRANSLAD, Hospital and University of Dijon, France, [email protected]; [email protected] 5.School of Psychology, University of Aberdeen, UK, [email protected]
La microdeletion 22q1 1 .2 (del22qll) est un syndrome neurogenetique considere comme un modele ge... more La microdeletion 22q1 1 .2 (del22qll) est un syndrome neurogenetique considere comme un modele genetique de la schizophrenie. Comme dans la schizophrenie, le syndrome est caracterise par la presence de symptomes positifs (ex. hallucinations, delires) et negatifs (anhedonie, retrait social) distincts. Dans ce projet, nous proposons d'examiner les facteurs de risques en lien avec les symptomes negatifs ainsi que leurs reseaux cerebraux sous jacents selon deux axes principaux : les processus lies aux recompense et la cognition sociale. Au travers de ce projet nous avons montre des alterations specifiques aux traitements des informations sociales dans la del22q11. Au niveau cerebraL les differentes etudes pointent le role du cortex cingulaire posterieur dans les deficits a la fois des processus lies aux recompenses et de perception sociale. Base sur ces resultats, nous avons propose un modele theorique permettant de rendre compte des deficits de motivation sociale dans la del22qll.
Background: Negative symptoms and social dysfunction are core features of the 22q11.2 deletion sy... more Background: Negative symptoms and social dysfunction are core features of the 22q11.2 deletion syndrome (22q11DS). Negative symptoms have been conceptualized as pathology of goal-directed-behaviors. Moreover, goal-directed-behaviors also appear to be a crucial step of social interactions. However, in 22q11DS, the extent to which goaldirected-behavior could be linked to social functioning difficulties and negative symptoms has never been examined. Method: Verbal and nonverbal initiation was measured using the verbal fluency and figural fluency tasks in 93 individuals with 22q11DS and 57 healthy controls aged between 8 and 30 years in order to assess goal-directed-behavior ability. The associations between initiation scores and social functioning/negative symptoms were investigated. In addition, the effect of COMT Val/Met polymorphism on initiation competences was examined. Results: Results revealed diminished verbal and nonverbal initiation ability in 22q11DS individuals compared to controls. A positive correlation between verbal initiation and social functioning was found as well as between verbal initiation and negative symptoms, in particular social anhedonia. No differences in terms of initiation scores were found between individuals with 22q11DS carrying Met and Val polymorphism. Conclusion: Results indicate impaired goal-directed-behavior in the 22q11DS population. These deficits seem to support social functioning impairments frequently observed in the 22q11DS and to a lesser extent the expression of negative symptoms.
The 22q11.2 deletion (22q11DS) syndrome is a neurogenetic condition marked by social dysfunction.... more The 22q11.2 deletion (22q11DS) syndrome is a neurogenetic condition marked by social dysfunction. A major network involved in social cognition is the default mode network (DMN). To date, no study has investigated DMN functional connectivity during socio-cognitive paradigms in 22q11DS. Method: We used the psychophysiological analysis (PPI) to investigate functional connectivity of the DMN during social perception in 22 participants with 22q11DS and 22 healthy controls. Association between DMN connectivity and prodromal symptoms was also examined. Results: 22q11DS patients exhibited stronger connectivity between the inferior parietal lobule (IPL) and the posterior cingulate cortex (PCC)/precuneus as well as lower connectivity between the precuneus and middle/ superior frontal regions compared to controls. Association between IPL-PCC/precuneus connectivity and negative symptoms was also found in individuals with 22q11DS. Conclusion: Our results point to (1) divergent DMN connectivity in patients with 22q11DS compared to controls; (2) association between DMN connectivity and negative symptom severity in patients. Results support the role of the DMN in social deficits of the 22q11DS population.
Background: 22q11.2 Deletion syndrome (22q11.2DS) is the most common known microdeletion in human... more Background: 22q11.2 Deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2,000-4,000 live births, with increasing numbers of individuals with the micro-deletion living into adulthood. The aim of the study was to explore the education and employment trajectories of individuals with 22q11.2DS from childhood to adulthood in a large cohort composed of two significant samples. Methods: 260 individuals with 22q11.2DS, 134 male and 126 female, aged 5 to 59 years (mean age 21.3 ± 10.8 years) were evaluated at two sites, Geneva (GVA) and Tel Aviv (TA). Psychiatric comorbidities, IQ score, and adaptive functioning were assessed using gold-standard diagnostic tools. Demographic factors, data about education, employment, marital status, and living status were collected. Results: Children entering elementary school (5-12 years) were significantly more likely to attend a mainstream school, while adolescents were significantly more likely to attend special education schools (p<0.005). Cognitive abilities and not adaptive functioning, predicted school placement. Among adults with 22q11.2DS (n= 138), fifty-seven (41.3%) were unemployed, 46 (33.3%) were employed in open market employment, 35 (25.4%) worked in assisted employment. In adulthood, adaptive functioning more than cognitive abilities predicted employment. Surprisingly, psychotic spectrum disorders were not found to be associated with employment. Conclusions: Individuals with 22q11.2DS are characterized by heterogeneity in educational and employment profiles. We found that cognitive abilities and adaptive functioning, and not the presence of psychiatric disorders, are key factors in school placement and employment. These 3 factors should therefore be taken into account when planning optimal development of individuals with 22q11.2DS.
Difficulties with prospective memory are frequently reported following pediatric traumatic brain ... more Difficulties with prospective memory are frequently reported following pediatric traumatic brain injury (TBI), but rarely researched. We aimed to (i) investigate time-based prospective memory post-pediatric TBI; (ii) examine whether time-based prospective memory is differentially impacted by the demand placed on working memory; and (iii) explore which components of working memory (viz., central executive, phonological loop, and visuospatial sketchpad) are involved in time-based prospective memory under low and high cognitive load following pediatric TBI. Thirty-nine children and adolescents (20 survivors of moderate-severe TBI and 19 healthy controls) completed (i) a newly developed time-based prospective memory task (TBPMT), embedded in an ongoing lexical-decision task, with two conditions: low and high working memory load; and (ii) tests of working memory components from the Automated Working Memory Assessment. Compared to controls, participants with TBI had significantly lower pr...
Please check your proof carefully and mark all corrections at the appropriate place in the proof ... more Please check your proof carefully and mark all corrections at the appropriate place in the proof (e.g., by using on-screen annotation in the PDF file) or compile them in a separate list. Note: if you opt to annotate the file with software other than Adobe Reader then please also highlight the appropriate place in the PDF file. To ensure fast publication of your paper please return your corrections within 48 hours.
Alterations of the reward system have been proposed as one of the core mechanisms underlying the ... more Alterations of the reward system have been proposed as one of the core mechanisms underlying the expression of negative symptoms in schizophrenia. Specifically, deficits in specific reward components and white matter (WM) integrity of the reward system have been highlighted. The putative link between negative symptoms and the hedonic experience, or structural connectivity of the reward system has never been examined in the 22q11.2 deletion syndrome (22q11DS), a condition with increased risk for psychosis. Anticipatory and consummatory dimensions of pleasure were assessed in participants with 22q11DS (N = 54) and healthy controls (N = 55). In patients with 22q11DS, the association between pleasure scores and positive or negative symptoms was investigated. Furthermore, WM integrity of the accumbofrontal tract was quantified using diffusion tensor imaging (DTI). Associations between DTI measures, pleasure dimensions and negative symptoms were examined. Patients with 22q11DS showed redu...
Background: Social impairments are described as a common feature of the 22q11.2 deletion syndrome... more Background: Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception. Methods: We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content. Results: Neural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social × valence interaction impairment was found in patients. Conclusions: Our results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals.
Journal of Neurodevelopmental Disorders, Apr 10, 2018
Background: Social impairments are described as a common feature of the 22q11.2 deletion syndrome... more Background: Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception. Methods: We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content. Results: Neural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social × valence interaction impairment was found in patients. Conclusions: Our results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals.
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