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 Auteurs : J. MAEDER, Auteur ; Maude SCHNEIDER, Auteur ; Mathilde BOSTELMANN, Auteur ; Martin DEBBANE, Auteur ; Bronwyn GLASER, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; Stephan ELIEZ, Auteur Année de publication : 2016 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] / J. MAEDER, Auteur ; Maude SCHNEIDER, Auteur ; Mathilde BOSTELMANN, Auteur ; Martin DEBBANE, Auteur ; Bronwyn GLASER, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; Stephan ELIEZ, Auteur . - 2016 . - 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 Auteurs : A. ZAHARIA, Auteur ; Maude SCHNEIDER, Auteur ; Bronwyn GLASER, Auteur ; Martina FRANCHINI, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; Martin DEBBANE, Auteur ; Stephan 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] / A. ZAHARIA, Auteur ; Maude SCHNEIDER, Auteur ; Bronwyn GLASER, Auteur ; Martina FRANCHINI, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; Martin DEBBANE, Auteur ; Stephan 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

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 Auteurs : M. SCHAER, Auteur ; Bronwyn GLASER, Auteur ; M.C. OTTET, Auteur ; Maude SCHNEIDER, Auteur ; Meritxell BACH CUADRA, Auteur ; Martin DEBBANE, Auteur ; J.P. THIRAN, Auteur ; Stephan ELIEZ, Auteur Année de publication : 2010 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] / M. SCHAER, Auteur ; Bronwyn GLASER, Auteur ; M.C. OTTET, Auteur ; Maude SCHNEIDER, Auteur ; Meritxell BACH CUADRA, Auteur ; Martin DEBBANE, Auteur ; J.P. THIRAN, Auteur ; Stephan ELIEZ, Auteur . - 2010 . - 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

Social behavior and cortisol reactivity in children with fragile X syndrome / David HESSL in Journal of Child Psychology and Psychiatry, 47-6 (June 2006)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 47-6 (June 2006) . - p.602–610 Titre : Social behavior and cortisol reactivity in children with fragile X syndrome Type de document : texte imprimé Auteurs : David HESSL, Auteur ; Bronwyn GLASER, Auteur ; Jennifer DYER-FRIEDMAN, Auteur ; Allan L. REISS, Auteur Année de publication : 2006 Article en page(s) : p.602–610 Langues : Anglais (eng) Mots-clés : Fragile-X-syndrome cortisol anxiety social-phobia FMR1-gene gaze autism Index. décimale : PER Périodiques Résumé : Objective: To examine the association between limbic-hypothalamic-pituitary-adrenal (L-HPA) axis reactivity and social behavior in children with fragile X syndrome (FXS). Method: Salivary cortisol changes and concurrent anxiety-related behaviors consistent with the behavioral phenotype of FXS were measured in 90 children with the fragile X full mutation and their 90 unaffected siblings during a social challenge task in the home. Results: Boys and girls with FXS demonstrated more gaze aversion, task avoidance, behavioral signs of distress, and poorer vocal quality than the unaffected siblings. Multiple regression analyses showed that after accounting for effects of IQ, gender, age, quality of the home environment, and basal cortisol level, cortisol reactivity to the task was significantly associated with social gaze in children with FXS. The most gaze-aversive children with FXS had cortisol reductions, whereas those with more eye contact demonstrated the most cortisol reactivity. Unaffected siblings demonstrated an opposite pattern in which less eye contact was associated with increased cortisol reactivity. Conclusions: Results of the study suggest a unique relation between abnormal gaze behavior and L-HPA mediated stress reactivity in FXS. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2005.01556.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=745 [article] Social behavior and cortisol reactivity in children with fragile X syndrome [texte imprimé] / David HESSL, Auteur ; Bronwyn GLASER, Auteur ; Jennifer DYER-FRIEDMAN, Auteur ; Allan L. REISS, Auteur . - 2006 . - p.602–610. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 47-6 (June 2006) . - p.602–610 Mots-clés : Fragile-X-syndrome cortisol anxiety social-phobia FMR1-gene gaze autism Index. décimale : PER Périodiques Résumé : Objective: To examine the association between limbic-hypothalamic-pituitary-adrenal (L-HPA) axis reactivity and social behavior in children with fragile X syndrome (FXS). Method: Salivary cortisol changes and concurrent anxiety-related behaviors consistent with the behavioral phenotype of FXS were measured in 90 children with the fragile X full mutation and their 90 unaffected siblings during a social challenge task in the home. Results: Boys and girls with FXS demonstrated more gaze aversion, task avoidance, behavioral signs of distress, and poorer vocal quality than the unaffected siblings. Multiple regression analyses showed that after accounting for effects of IQ, gender, age, quality of the home environment, and basal cortisol level, cortisol reactivity to the task was significantly associated with social gaze in children with FXS. The most gaze-aversive children with FXS had cortisol reductions, whereas those with more eye contact demonstrated the most cortisol reactivity. Unaffected siblings demonstrated an opposite pattern in which less eye contact was associated with increased cortisol reactivity. Conclusions: Results of the study suggest a unique relation between abnormal gaze behavior and L-HPA mediated stress reactivity in FXS. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2005.01556.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=745

The effect of emotional intensity on responses to joint attention in preschoolers with an autism spectrum disorder / Martina FRANCHINI in Research in Autism Spectrum Disorders, 35 (March 2017)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 35 (March 2017) . - p.13-24 Titre : The effect of emotional intensity on responses to joint attention in preschoolers with an autism spectrum disorder Type de document : texte imprimé Auteurs : Martina FRANCHINI, Auteur ; Bronwyn GLASER, Auteur ; Edouard GENTAZ, Auteur ; Hilary WOOD, Auteur ; Stephan ELIEZ, Auteur ; Marie SCHAER, Auteur Article en page(s) : p.13-24 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Eye-tracking  Response to joint attention (RJA)  Emotional expressions  Gestural pointing Index. décimale : PER Périodiques Résumé : Responding to joint attention (RJA) is reduced in young children with ASD despite being vital to the early development of social communication. For this reason, RJA is a frequent target in early intervention programs. Clinical guidelines suggest that exaggerating facial expressions or gestural pointing may improve RJA in children with autism by clarifying the meaning of the gaze or gesture. In the current study, we investigate the effect of intensity of emotional expression on RJA in preschoolers with ASD. Method Twenty-five preschoolers with ASD and 21 typically developing peers were administered a specifically designed eye-tracking task in which an actor directs attention to a moving object by looking at it with an expression that was either neutral, mildly surprised or intensely surprised. In a supplementary condition, gestural pointing was accompanied by a neutral gaze shift. Results Commensurate with previous studies, children with ASD oriented less to the face of the actor and were less responsive to RJA when compared to their typically developing peers. However, children with autism differed in their response to RJA according to the different task conditions. They demonstrated more frequent responses to RJA when the actor’s facial expression was either intense or supported by gestural pointing. We report initial evidence for the importance of clarifying content cues in order to help preschoolers with autism adhere to receptive joint attention (RJA) opportunities. Our findings inform knowledge about early treatment and attention to emotional expressions in autism and improve our understanding of how early interventions may work to increase RJA in young children with ASD. En ligne : http://dx.doi.org/10.1016/j.rasd.2016.11.010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] The effect of emotional intensity on responses to joint attention in preschoolers with an autism spectrum disorder [texte imprimé] / Martina FRANCHINI, Auteur ; Bronwyn GLASER, Auteur ; Edouard GENTAZ, Auteur ; Hilary WOOD, Auteur ; Stephan ELIEZ, Auteur ; Marie SCHAER, Auteur . - p.13-24. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 35 (March 2017) . - p.13-24 Mots-clés : Autism spectrum disorders  Eye-tracking  Response to joint attention (RJA)  Emotional expressions  Gestural pointing Index. décimale : PER Périodiques Résumé : Responding to joint attention (RJA) is reduced in young children with ASD despite being vital to the early development of social communication. For this reason, RJA is a frequent target in early intervention programs. Clinical guidelines suggest that exaggerating facial expressions or gestural pointing may improve RJA in children with autism by clarifying the meaning of the gaze or gesture. In the current study, we investigate the effect of intensity of emotional expression on RJA in preschoolers with ASD. Method Twenty-five preschoolers with ASD and 21 typically developing peers were administered a specifically designed eye-tracking task in which an actor directs attention to a moving object by looking at it with an expression that was either neutral, mildly surprised or intensely surprised. In a supplementary condition, gestural pointing was accompanied by a neutral gaze shift. Results Commensurate with previous studies, children with ASD oriented less to the face of the actor and were less responsive to RJA when compared to their typically developing peers. However, children with autism differed in their response to RJA according to the different task conditions. They demonstrated more frequent responses to RJA when the actor’s facial expression was either intense or supported by gestural pointing. We report initial evidence for the importance of clarifying content cues in order to help preschoolers with autism adhere to receptive joint attention (RJA) opportunities. Our findings inform knowledge about early treatment and attention to emotional expressions in autism and improve our understanding of how early interventions may work to increase RJA in young children with ASD. En ligne : http://dx.doi.org/10.1016/j.rasd.2016.11.010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

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)  

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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 / Mathilde BOSTELMANN in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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