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

Episodic Future Thinking in Autism Spectrum Disorder and 22q11.2 Deletion Syndrome: Association with Anticipatory Pleasure and Social Functioning / C. FELLER in Journal of Autism and Developmental Disorders, 51-12 (December 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4587-4604 Titre : Episodic Future Thinking in Autism Spectrum Disorder and 22q11.2 Deletion Syndrome: Association with Anticipatory Pleasure and Social Functioning Type de document : Texte imprimé et/ou numérique Auteurs : C. FELLER, Auteur ; C. DUBOIS, Auteur ; S. ELIEZ, Auteur ; M. SCHNEIDER, Auteur Article en page(s) : p.4587-4604 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  DiGeorge Syndrome  Humans  Memory, Episodic  Mental Recall  Pleasure  Social Interaction  22q11.2 deletion syndrome  Anticipatory pleasure  Autism spectrum disorder  Autonoetic consciousness  Episodic future thinking  Social functioning Index. décimale : PER Périodiques Résumé : Episodic future thinking (EFT) has been suggested to underlie anticipatory pleasure (AP), itself known to play a crucial role in social functioning (SF). Both AP and SF are impaired in various clinical populations, including autism spectrum disorders (ASD) and 22q11.2 deletion syndrome (22q11DS). Therefore, the relationship between EFT, AP and SF was investigated, as well as the potential role of projecting oneself in a social vs. non-social context. Seventy-seven participants [24 with 22q11DS, 20 with ASD, 33 typically developing controls (TDs)] (aged 12-25) were included. They were assessed with a future thinking task in which they were asked to recall a memory and produce a likely event. Narratives were rated based of specificity, richness and imaginability. Participants completed questionnaires assessing AP and SF. Narratives from ASD and 22q11DS participants were rated as less vivid compared to TDs. However, the characteristics of the narratives differed between ASD and 22q11DS participants in terms of specificity and level of details, as well as in reaction to social condition. Moreover, correlations were found between AP and EFT in both ASD and 22q11DS participants, and between SF and EFT in ASD participants. These results point towards impairments in EFT in both ASD and 22q11DS participants but with a specific profile in each condition. The observed associations between EFT and AP suggest that decreased autonoetic consciousness might underlie AP impairments. In ASD individuals, the association between SF and EFT highlights the need to better characterize EFT since EFT could be another mechanism contributing to social difficulties. En ligne : http://dx.doi.org/10.1007/s10803-021-04903-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 [article] Episodic Future Thinking in Autism Spectrum Disorder and 22q11.2 Deletion Syndrome: Association with Anticipatory Pleasure and Social Functioning [Texte imprimé et/ou numérique] / C. FELLER, Auteur ; C. DUBOIS, Auteur ; S. ELIEZ, Auteur ; M. SCHNEIDER, Auteur . - p.4587-4604. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4587-4604 Mots-clés : Autism Spectrum Disorder  DiGeorge Syndrome  Humans  Memory, Episodic  Mental Recall  Pleasure  Social Interaction  22q11.2 deletion syndrome  Anticipatory pleasure  Autism spectrum disorder  Autonoetic consciousness  Episodic future thinking  Social functioning Index. décimale : PER Périodiques Résumé : Episodic future thinking (EFT) has been suggested to underlie anticipatory pleasure (AP), itself known to play a crucial role in social functioning (SF). Both AP and SF are impaired in various clinical populations, including autism spectrum disorders (ASD) and 22q11.2 deletion syndrome (22q11DS). Therefore, the relationship between EFT, AP and SF was investigated, as well as the potential role of projecting oneself in a social vs. non-social context. Seventy-seven participants [24 with 22q11DS, 20 with ASD, 33 typically developing controls (TDs)] (aged 12-25) were included. They were assessed with a future thinking task in which they were asked to recall a memory and produce a likely event. Narratives were rated based of specificity, richness and imaginability. Participants completed questionnaires assessing AP and SF. Narratives from ASD and 22q11DS participants were rated as less vivid compared to TDs. However, the characteristics of the narratives differed between ASD and 22q11DS participants in terms of specificity and level of details, as well as in reaction to social condition. Moreover, correlations were found between AP and EFT in both ASD and 22q11DS participants, and between SF and EFT in ASD participants. These results point towards impairments in EFT in both ASD and 22q11DS participants but with a specific profile in each condition. The observed associations between EFT and AP suggest that decreased autonoetic consciousness might underlie AP impairments. In ASD individuals, the association between SF and EFT highlights the need to better characterize EFT since EFT could be another mechanism contributing to social difficulties. En ligne : http://dx.doi.org/10.1007/s10803-021-04903-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454

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

Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome / L. DUBOURG in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 13 p. Titre : Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. DUBOURG, Auteur ; P. VRTICKA, Auteur ; M. DEBBANE, Auteur ; L. CHAMBAZ, Auteur ; S. ELIEZ, Auteur ; M. SCHNEIDER, Auteur Année de publication : 2018 Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  Default mode network  Socio-emotional perception  fMRI Index. décimale : PER Périodiques Résumé : 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 x 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. En ligne : http://dx.doi.org/10.1186/s11689-018-9232-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / L. DUBOURG, Auteur ; P. VRTICKA, Auteur ; M. DEBBANE, Auteur ; L. CHAMBAZ, Auteur ; S. ELIEZ, Auteur ; M. SCHNEIDER, Auteur . - 2018 . - 13 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 13 p. Mots-clés : 22q11.2 deletion syndrome  Default mode network  Socio-emotional perception  fMRI Index. décimale : PER Périodiques Résumé : 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 x 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. En ligne : http://dx.doi.org/10.1186/s11689-018-9232-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

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)  

Permalink

Understanding others: a pilot investigation of cognitive and affective facets of social cognition in patients with 22q11.2 deletion syndrome (22q11DS) / D. BADOUD in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Permalink

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)  

Permalink

---

1 (1 - 8 / 8)