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

Les systèmes de mémoire spatiale et le syndrome de Williams / M. BOSTELMANN in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E., 160 (Juin 2019)

Public ISBD [article]  inApproche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 160 (Juin 2019) . - p.358-365 Titre : Les systèmes de mémoire spatiale et le syndrome de Williams Type de document : Texte imprimé et/ou numérique Auteurs : M. BOSTELMANN, Auteur ; E. BOCHUD-FRAGNIERE, Auteur ; P. LAVENEX, Auteur ; Pamela BANTA LAVENEX, Auteur Article en page(s) : p.358-365 Langues : Français (fre) Mots-clés : Mémoire spatiale  Allocentrique  Egocentrique  Syndrome de Williams Index. décimale : PER Périodiques Résumé : La mémoire spatiale n’est pas un processus unitaire, mais implique plusieurs types de représentations de l’espace. Les personnes avec syndrome de Williams montrent des déficits importants d’apprentissage de place, par rapport à des enfants au développement typique ayant un âge mental correspondant. Au contraire, elles ont des capacités d’apprentissage de réponse spatiale préservées, voire supérieures. Des stratégies compensatrices basées sur ce type de représentation spatiale devraient donc être favorisées auprès des personnes avec syndrome de Williams. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Les systèmes de mémoire spatiale et le syndrome de Williams [Texte imprimé et/ou numérique] / M. BOSTELMANN, Auteur ; E. BOCHUD-FRAGNIERE, Auteur ; P. LAVENEX, Auteur ; Pamela BANTA LAVENEX, Auteur . - p.358-365. Langues : Français (fre) in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 160 (Juin 2019) . - p.358-365 Mots-clés : Mémoire spatiale  Allocentrique  Egocentrique  Syndrome de Williams Index. décimale : PER Périodiques Résumé : La mémoire spatiale n’est pas un processus unitaire, mais implique plusieurs types de représentations de l’espace. Les personnes avec syndrome de Williams montrent des déficits importants d’apprentissage de place, par rapport à des enfants au développement typique ayant un âge mental correspondant. Au contraire, elles ont des capacités d’apprentissage de réponse spatiale préservées, voire supérieures. Des stratégies compensatrices basées sur ce type de représentation spatiale devraient donc être favorisées auprès des personnes avec syndrome de Williams. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.41 Titre : 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 Type de document : Texte imprimé et/ou numérique Auteurs : M. BOSTELMANN, Auteur ; M. SCHNEIDER, Auteur ; M. C. PADULA, Auteur ; J. MAEDER, Auteur ; M. SCHAER, Auteur ; E. SCARIATI, Auteur ; M. DEBBANE, Auteur ; B. GLASER, Auteur ; S. MENGHETTI, Auteur ; S. ELIEZ, Auteur Article en page(s) : p.41 Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  Dorsal stream vulnerability hypothesis  Visual cognitive development  Visual memory Index. décimale : PER Périodiques Résumé : BACKGROUND: Children affected by the 22q11.2 deletion syndrome (22q11.2DS) have a specific neuropsychological profile with strengths and weaknesses in several cognitive domains. Specifically, previous evidence has shown that patients with 22q11.2DS have more difficulties memorizing faces and visual-object characteristics of stimuli. In contrast, they have better performance in visuo-spatial memory tasks. The first focus of this study was to replicate these results in a larger sample of patients affected with 22q11.2DS and using a range of memory tasks. Moreover, we analyzed if the deficits were related to brain morphology in the structures typically underlying these abilities (ventral and dorsal visual streams). Finally, since the longitudinal development of visual memory is not clearly characterized in 22q11.2DS, we investigated its evolution from childhood to adolescence. METHODS: Seventy-one patients with 22q11.2DS and 49 control individuals aged between 9 and 16 years completed the Benton Visual Retention Test (BVRT) and specific subtests assessing visual memory from the Children's Memory Scale (CMS). The BVRT was used to compute spatial and object memory errors. For the CMS, specific subtests were classified into ventral, dorsal, and mixed subtests. Longitudinal data were obtained from a subset of 26 patients and 22 control individuals. RESULTS: Cross-sectional results showed that patients with 22q11.2DS were impaired in all visual memory measures, with stronger deficits in visual-object memory and memory of faces, compared to visuo-spatial memory. No correlations between morphological brain impairments and visual memory were found in patients with 22q11.2DS. Longitudinal findings revealed that participants with 22q11.2DS made more object memory errors than spatial memory errors at baseline. This difference was no longer significant at follow-up. CONCLUSIONS: Individuals with 22q11.2DS have impairments in visual memory abilities, with more pronounced difficulties in memorizing faces and visual-object characteristics. From childhood to adolescence, the visual cognitive profile of patients with 22q11.2DS seems globally stable even though some processes show an evolution with time. We hope that our results will help clinicians and caregivers to better understand the memory difficulties of young individuals with 22q11.2DS. This has a particular importance at school to facilitate recommendations concerning intervention strategies for these young patients. En ligne : http://dx.doi.org/10.1186/s11689-016-9174-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] 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 [Texte imprimé et/ou numérique] / M. BOSTELMANN, Auteur ; M. SCHNEIDER, Auteur ; M. C. PADULA, Auteur ; J. MAEDER, Auteur ; M. SCHAER, Auteur ; E. SCARIATI, Auteur ; M. DEBBANE, Auteur ; B. GLASER, Auteur ; S. MENGHETTI, Auteur ; S. ELIEZ, Auteur . - p.41. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.41 Mots-clés : 22q11.2 deletion syndrome  Dorsal stream vulnerability hypothesis  Visual cognitive development  Visual memory Index. décimale : PER Périodiques Résumé : BACKGROUND: Children affected by the 22q11.2 deletion syndrome (22q11.2DS) have a specific neuropsychological profile with strengths and weaknesses in several cognitive domains. Specifically, previous evidence has shown that patients with 22q11.2DS have more difficulties memorizing faces and visual-object characteristics of stimuli. In contrast, they have better performance in visuo-spatial memory tasks. The first focus of this study was to replicate these results in a larger sample of patients affected with 22q11.2DS and using a range of memory tasks. Moreover, we analyzed if the deficits were related to brain morphology in the structures typically underlying these abilities (ventral and dorsal visual streams). Finally, since the longitudinal development of visual memory is not clearly characterized in 22q11.2DS, we investigated its evolution from childhood to adolescence. METHODS: Seventy-one patients with 22q11.2DS and 49 control individuals aged between 9 and 16 years completed the Benton Visual Retention Test (BVRT) and specific subtests assessing visual memory from the Children's Memory Scale (CMS). The BVRT was used to compute spatial and object memory errors. For the CMS, specific subtests were classified into ventral, dorsal, and mixed subtests. Longitudinal data were obtained from a subset of 26 patients and 22 control individuals. RESULTS: Cross-sectional results showed that patients with 22q11.2DS were impaired in all visual memory measures, with stronger deficits in visual-object memory and memory of faces, compared to visuo-spatial memory. No correlations between morphological brain impairments and visual memory were found in patients with 22q11.2DS. Longitudinal findings revealed that participants with 22q11.2DS made more object memory errors than spatial memory errors at baseline. This difference was no longer significant at follow-up. CONCLUSIONS: Individuals with 22q11.2DS have impairments in visual memory abilities, with more pronounced difficulties in memorizing faces and visual-object characteristics. From childhood to adolescence, the visual cognitive profile of patients with 22q11.2DS seems globally stable even though some processes show an evolution with time. We hope that our results will help clinicians and caregivers to better understand the memory difficulties of young individuals with 22q11.2DS. This has a particular importance at school to facilitate recommendations concerning intervention strategies for these young patients. En ligne : http://dx.doi.org/10.1186/s11689-016-9174-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

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