Developmental trajectories of executive functions in 22q11.2 deletion syndrome / J. MAEDER in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.10 Titre : Developmental trajectories of executive functions in 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. MAEDER, Auteur ; M. SCHNEIDER, Auteur ; M. BOSTELMANN, Auteur ; M. DEBBANE, Auteur ; B. GLASER, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; S. ELIEZ, Auteur Article en page(s) : p.10 Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  Adaptive functioning  Development  Executive functions Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder associated with a specific cognitive profile. Higher-order cognitive skills like executive functions (EF) are reported as a relative weakness in this population. The present study aimed to delineate the developmental trajectories of multiple EF domains in a longitudinal sample using a broader age range than previous studies. Given the high incidence of psychotic symptoms in 22q11.2DS, we also compared the development of EF in participants with/without comorbid psychotic symptoms. Given the importance of EF in daily life, the third aim of the study was to characterize the link between EF and adaptive functioning. METHODS: The sample consisted of 95 individuals with 22q11.2DS and 100 typically developing controls aged 6-26 years. A large proportion of the sample (55.38 %) had multiple time points available. Between-group differences in the developmental trajectories of three subdomains of EF (verbal fluency, working memory, and inhibition) were examined using mixed models regression analyses. Analyses were repeated comparing only the 22q11.2DS group based on the presence/absence of psychotic symptoms to investigate the influence of executive dysfunction on the emergence of psychotic symptoms. Hierarchical stepwise regression analyses were also conducted to investigate the predictive value of EF on adaptive functioning. RESULTS: We observed lower performance on EF domains, as well as atypical development of working memory and verbal fluency. Participants who presented with negative symptoms exhibited different developmental trajectories of inhibition and working memory. Adaptive functioning level was not significantly predicted by EF scores. CONCLUSIONS: The present study highlighted domain-specific atypical trajectories of EF in individuals with 22q11.DS and explored the link with psychotic symptoms. However, no relation between EF and adaptive functioning was observed. En ligne : http://dx.doi.org/10.1186/s11689-016-9141-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Developmental trajectories of executive functions in 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / J. MAEDER, Auteur ; M. SCHNEIDER, Auteur ; M. BOSTELMANN, Auteur ; M. DEBBANE, Auteur ; B. GLASER, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; S. ELIEZ, Auteur . - p.10. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.10 Mots-clés : 22q11.2 deletion syndrome  Adaptive functioning  Development  Executive functions Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder associated with a specific cognitive profile. Higher-order cognitive skills like executive functions (EF) are reported as a relative weakness in this population. The present study aimed to delineate the developmental trajectories of multiple EF domains in a longitudinal sample using a broader age range than previous studies. Given the high incidence of psychotic symptoms in 22q11.2DS, we also compared the development of EF in participants with/without comorbid psychotic symptoms. Given the importance of EF in daily life, the third aim of the study was to characterize the link between EF and adaptive functioning. METHODS: The sample consisted of 95 individuals with 22q11.2DS and 100 typically developing controls aged 6-26 years. A large proportion of the sample (55.38 %) had multiple time points available. Between-group differences in the developmental trajectories of three subdomains of EF (verbal fluency, working memory, and inhibition) were examined using mixed models regression analyses. Analyses were repeated comparing only the 22q11.2DS group based on the presence/absence of psychotic symptoms to investigate the influence of executive dysfunction on the emergence of psychotic symptoms. Hierarchical stepwise regression analyses were also conducted to investigate the predictive value of EF on adaptive functioning. RESULTS: We observed lower performance on EF domains, as well as atypical development of working memory and verbal fluency. Participants who presented with negative symptoms exhibited different developmental trajectories of inhibition and working memory. Adaptive functioning level was not significantly predicted by EF scores. CONCLUSIONS: The present study highlighted domain-specific atypical trajectories of EF in individuals with 22q11.DS and explored the link with psychotic symptoms. However, no relation between EF and adaptive functioning was observed. En ligne : http://dx.doi.org/10.1186/s11689-016-9141-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations / A. ZAHARIA in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 26 p. Titre : Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations Type de document : Texte imprimé et/ou numérique Auteurs : A. ZAHARIA, Auteur ; M. SCHNEIDER, Auteur ; B. GLASER, Auteur ; M. FRANCHINI, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; M. DEBBANE, Auteur ; S. ELIEZ, Auteur Année de publication : 2018 Article en page(s) : 26 p. Langues : Anglais (eng) Mots-clés : Configural face processing  Eye-tracking  Featural face processing  Neurodevelopmental disorders  Social difficulties Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11.2DS. First, we sought to identify biases in the first two fixation positions on faces and to detect differences between CFP and FFP in 22q11.2DS using eye-tracking technology. Second, we investigated the developmental trajectories of CFP and FFP using accuracy data from follow-up evaluation. METHODS: Seventy-five individuals with 22q11.2DS and 84 typically developed (TD) individuals (aged 6-21 years) completed a discrimination task ("Jane task") inducing CFP and FFP in an eye-tracking setting. Thirty-six individuals with 22q11DS and 30 TD from our sample completed a longitudinal follow-up evaluation. RESULTS: Findings revealed that individuals with 22q11.2DS demonstrate an early bias toward the mouth region during the initial fixations on the faces and reduced flexibility exploration of the faces, with a reduced number of transitions between faces and longer fixations compared to the TD group. Further, scanpaths did not differ between CFP and FFP in the 22q11.2DS group. Longitudinal analysis of accuracy data provided evidence for atypical development of CFP in 22q11.2DS. CONCLUSIONS: The current study brings new evidence of altered face exploration in 22q11.2DS and identifies developmental mechanisms that may contribute to difficulties impacting social interactions in the syndrome. En ligne : http://dx.doi.org/10.1186/s11689-018-9245-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations [Texte imprimé et/ou numérique] / A. ZAHARIA, Auteur ; M. SCHNEIDER, Auteur ; B. GLASER, Auteur ; M. FRANCHINI, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; M. DEBBANE, Auteur ; S. ELIEZ, Auteur . - 2018 . - 26 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 26 p. Mots-clés : Configural face processing  Eye-tracking  Featural face processing  Neurodevelopmental disorders  Social difficulties Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11.2DS. First, we sought to identify biases in the first two fixation positions on faces and to detect differences between CFP and FFP in 22q11.2DS using eye-tracking technology. Second, we investigated the developmental trajectories of CFP and FFP using accuracy data from follow-up evaluation. METHODS: Seventy-five individuals with 22q11.2DS and 84 typically developed (TD) individuals (aged 6-21 years) completed a discrimination task ("Jane task") inducing CFP and FFP in an eye-tracking setting. Thirty-six individuals with 22q11DS and 30 TD from our sample completed a longitudinal follow-up evaluation. RESULTS: Findings revealed that individuals with 22q11.2DS demonstrate an early bias toward the mouth region during the initial fixations on the faces and reduced flexibility exploration of the faces, with a reduced number of transitions between faces and longer fixations compared to the TD group. Further, scanpaths did not differ between CFP and FFP in the 22q11.2DS group. Longitudinal analysis of accuracy data provided evidence for atypical development of CFP in 22q11.2DS. CONCLUSIONS: The current study brings new evidence of altered face exploration in 22q11.2DS and identifies developmental mechanisms that may contribute to difficulties impacting social interactions in the syndrome. En ligne : http://dx.doi.org/10.1186/s11689-018-9245-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

L’orientation sociale chez les jeunes enfants avec un trouble du spectre de l’autisme : apports des techniques d’oculométrie / Martina FRANCHINI in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E., 142 (Juillet 2016)

Public ISBD [article]  inApproche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 142 (Juillet 2016) . - p.327-332 Titre : L’orientation sociale chez les jeunes enfants avec un trouble du spectre de l’autisme : apports des techniques d’oculométrie Type de document : Texte imprimé et/ou numérique Auteurs : Martina FRANCHINI, Auteur ; Edouard GENTAZ, Auteur ; M. SCHAER, Auteur Article en page(s) : p.327-332 Langues : Français (fre) Mots-clés : Troubles du spectre autistique  Orientation sociale  Oculométrie  Développement socio-communicatif Index. décimale : PER Périodiques Résumé : Selon la théorie de la motivation sociale en autisme, une réduction de l’orientation vers des stimuli socialement saillants serait à l’origine d’une cascade développementale d’effets successifs qui expliquerait l’apparition des symptômes observables chez les personnes avec un trouble du spectre autistique. Cette réduction entraverait le développement sociocognitif des personnes avec autisme. Cette réduction peut être quantifiée de manière précise et fiable avec les techniques d’oculométrie chez des jeunes enfants avec autisme. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 [article] L’orientation sociale chez les jeunes enfants avec un trouble du spectre de l’autisme : apports des techniques d’oculométrie [Texte imprimé et/ou numérique] / Martina FRANCHINI, Auteur ; Edouard GENTAZ, Auteur ; M. SCHAER, Auteur . - p.327-332. Langues : Français (fre) in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 142 (Juillet 2016) . - p.327-332 Mots-clés : Troubles du spectre autistique  Orientation sociale  Oculométrie  Développement socio-communicatif Index. décimale : PER Périodiques Résumé : Selon la théorie de la motivation sociale en autisme, une réduction de l’orientation vers des stimuli socialement saillants serait à l’origine d’une cascade développementale d’effets successifs qui expliquerait l’apparition des symptômes observables chez les personnes avec un trouble du spectre autistique. Cette réduction entraverait le développement sociocognitif des personnes avec autisme. Cette réduction peut être quantifiée de manière précise et fiable avec les techniques d’oculométrie chez des jeunes enfants avec autisme. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291

Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome / M. SCHAER in Journal of Neurodevelopmental Disorders, 2-4 (December 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.224-234 Titre : Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. SCHAER, Auteur ; B. GLASER, Auteur ; M. C. OTTET, Auteur ; M. SCHNEIDER, Auteur ; M. BACH CUADRA, Auteur ; M. DEBBANE, Auteur ; J. P. THIRAN, Auteur ; S. ELIEZ, Auteur Article en page(s) : p.224-234 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only received little attention. We address this question in a sample of patients with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition frequently associated with CHD. Sixty-one children, adolescents, and young adults with confirmed 22q11.2 deletion were included, as well as 80 healthy participants matched for age and gender. Subsequent subdivision of the patients group according to CHD yielded a subgroup of 27 patients with normal cardiac status and a subgroup of 26 patients who underwent cardiac surgery during their first years of life (eight patients with unclear status were excluded). Regional cortical volumes were extracted using an automated method and the association between regional cortical volumes, and CHD was examined within a three-condition fixed factor. Robust protection against type I error used Bonferroni correction. Smaller total cerebral volumes were observed in patients with CHD compared to both patients without CHD and controls. The pattern of bilateral regional reductions associated with CHD encompassed the superior parietal region, the precuneus, the fusiform gyrus, and the anterior cingulate cortex. Within patients, a significant reduction in the left parahippocampal, the right middle temporal, and the left superior frontal gyri was associated with CHD. The present results of global and regional volumetric reductions suggest a role for disturbed hemodynamic in the pathophysiology of brain alterations in patients with neurodevelopmental disease and cardiac malformations. En ligne : http://dx.doi.org/10.1007/s11689-010-9061-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / M. SCHAER, Auteur ; B. GLASER, Auteur ; M. C. OTTET, Auteur ; M. SCHNEIDER, Auteur ; M. BACH CUADRA, Auteur ; M. DEBBANE, Auteur ; J. P. THIRAN, Auteur ; S. ELIEZ, Auteur . - p.224-234. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.224-234 Index. décimale : PER Périodiques Résumé : Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only received little attention. We address this question in a sample of patients with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition frequently associated with CHD. Sixty-one children, adolescents, and young adults with confirmed 22q11.2 deletion were included, as well as 80 healthy participants matched for age and gender. Subsequent subdivision of the patients group according to CHD yielded a subgroup of 27 patients with normal cardiac status and a subgroup of 26 patients who underwent cardiac surgery during their first years of life (eight patients with unclear status were excluded). Regional cortical volumes were extracted using an automated method and the association between regional cortical volumes, and CHD was examined within a three-condition fixed factor. Robust protection against type I error used Bonferroni correction. Smaller total cerebral volumes were observed in patients with CHD compared to both patients without CHD and controls. The pattern of bilateral regional reductions associated with CHD encompassed the superior parietal region, the precuneus, the fusiform gyrus, and the anterior cingulate cortex. Within patients, a significant reduction in the left parahippocampal, the right middle temporal, and the left superior frontal gyri was associated with CHD. The present results of global and regional volumetric reductions suggest a role for disturbed hemodynamic in the pathophysiology of brain alterations in patients with neurodevelopmental disease and cardiac malformations. En ligne : http://dx.doi.org/10.1007/s11689-010-9061-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome / M. C. PADULA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.23 Titre : Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. C. PADULA, Auteur ; M. SCHAER, Auteur ; E. SCARIATI, Auteur ; M. SCHNEIDER, Auteur ; D. VAN DE VILLE, Auteur ; M. DEBBANE, Auteur ; S. ELIEZ, Auteur Article en page(s) : p.23 Langues : Anglais (eng) Mots-clés : Dti  Maturation  Positive symptoms  Resting-state fMRI  Schizophrenia  Tractography Index. décimale : PER Périodiques Résumé : BACKGROUND: The neural endophenotype associated with 22q11.2 deletion syndrome (22q11DS) includes deviant cortical development and alterations in brain connectivity. Resting-state functional magnetic resonance imaging (fMRI) findings also reported disconnectivity within the default mode network (DMN). In this study, we explored the relationship between functional and structural DMN connectivity and their changes with age in patients with 22q11DS in comparison to control participants. Given previous evidence of an association between DMN disconnectivity and the manifestation of psychotic symptoms, we further investigated this relationship in our group of patients with 22q11DS. METHODS: T1-weighted, diffusion, and resting-state fMRI scans were acquired from 41 patients with 22q11DS and 43 control participants aged 6 to 28 years. A data-driven approach based on independent component analysis (ICA) was used to identify the DMN and to define regions of interest for the structural and functional connectivity analysis. Prodromal psychotic symptoms were assessed in adolescents and adults using the positive symptom scores of the Structured Interview of Prodromal Syndromes (SIPS). Connectivity measures were compared between groups and correlated with age. Repeating the between-group analysis in three different age bins further assessed the presence of age-related alterations in DMN connectivity. Structural and functional connectivity measures were then correlated with the SIPS scores. RESULTS: A simultaneous reduction of functional and structural connectivity between core medial nodes of the DMN was observed. Furthermore, structural connectivity measures significantly increased with age in the control group but not in patients with 22q11DS, suggesting the presence of an age-related alteration of the DMN structural connections. No correlations were found between the DMN disconnectivity and expression of prodromal symptoms in 22q11DS. CONCLUSIONS: These findings indicate the presence of functional and structural DMN disconnectivity in 22q11DS and that patients with 22q11DS fail to develop normal structural connections between medial DMN nodes. This suggests the presence of altered neurodevelopmental trajectories in 22q11DS. En ligne : http://dx.doi.org/10.1186/s11689-015-9120-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / M. C. PADULA, Auteur ; M. SCHAER, Auteur ; E. SCARIATI, Auteur ; M. SCHNEIDER, Auteur ; D. VAN DE VILLE, Auteur ; M. DEBBANE, Auteur ; S. ELIEZ, Auteur . - p.23. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.23 Mots-clés : Dti  Maturation  Positive symptoms  Resting-state fMRI  Schizophrenia  Tractography Index. décimale : PER Périodiques Résumé : BACKGROUND: The neural endophenotype associated with 22q11.2 deletion syndrome (22q11DS) includes deviant cortical development and alterations in brain connectivity. Resting-state functional magnetic resonance imaging (fMRI) findings also reported disconnectivity within the default mode network (DMN). In this study, we explored the relationship between functional and structural DMN connectivity and their changes with age in patients with 22q11DS in comparison to control participants. Given previous evidence of an association between DMN disconnectivity and the manifestation of psychotic symptoms, we further investigated this relationship in our group of patients with 22q11DS. METHODS: T1-weighted, diffusion, and resting-state fMRI scans were acquired from 41 patients with 22q11DS and 43 control participants aged 6 to 28 years. A data-driven approach based on independent component analysis (ICA) was used to identify the DMN and to define regions of interest for the structural and functional connectivity analysis. Prodromal psychotic symptoms were assessed in adolescents and adults using the positive symptom scores of the Structured Interview of Prodromal Syndromes (SIPS). Connectivity measures were compared between groups and correlated with age. Repeating the between-group analysis in three different age bins further assessed the presence of age-related alterations in DMN connectivity. Structural and functional connectivity measures were then correlated with the SIPS scores. RESULTS: A simultaneous reduction of functional and structural connectivity between core medial nodes of the DMN was observed. Furthermore, structural connectivity measures significantly increased with age in the control group but not in patients with 22q11DS, suggesting the presence of an age-related alteration of the DMN structural connections. No correlations were found between the DMN disconnectivity and expression of prodromal symptoms in 22q11DS. CONCLUSIONS: These findings indicate the presence of functional and structural DMN disconnectivity in 22q11DS and that patients with 22q11DS fail to develop normal structural connections between medial DMN nodes. This suggests the presence of altered neurodevelopmental trajectories in 22q11DS. En ligne : http://dx.doi.org/10.1186/s11689-015-9120-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Visual memory profile in 22q11.2 microdeletion syndrome: are there differences in performance and neurobiological substrates between tasks linked to ventral and dorsal visual brain structures? A cross-sectional and longitudinal study / M. BOSTELMANN in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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