13 recherche sur le mot-clé '22q11.2 deletion syndrome'

Atypical functional connectivity in resting-state networks of individuals with 22q11.2 deletion syndrome: associations with neurocognitive and psychiatric functioning / L. M. MATTIACCIO in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.2 Titre : Atypical functional connectivity in resting-state networks of individuals with 22q11.2 deletion syndrome: associations with neurocognitive and psychiatric functioning Type de document : Texte imprimé et/ou numérique Auteurs : L. M. MATTIACCIO, Auteur ; I. L. COMAN, Auteur ; M. J. SCHREINER, Auteur ; Kevin M. ANTSHEL, Auteur ; W. P. FREMONT, Auteur ; Carrie E. BEARDEN, Auteur ; W. R. KATES, Auteur Article en page(s) : p.2 Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  Ica  Resting-state fMRI  Schizophrenia Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with deficits in neuropsychological functioning and psychiatric disorders. This deletion confers a high risk for the development of psychosis, as approximately 30-45 % of individuals develop psychosis in adulthood. Previous reports of resting-state functional magnetic resonance imaging (rs-fMRI) functional connectivity patterns in 22q11DS have demonstrated that atypical connectivity is associated with both the emergence and severity of psychotic symptoms. However, due to sample overlap and large age ranges of samples spanning multiple critical periods of brain maturation, more independent studies with samples within the window of time when psychotic symptoms have been shown to emerge (ages 17-26) are needed. Resting-state networks (RSNs) in 22q11DS during this stage of brain development may thus provide insight into the dynamic changes in functional integration that influence the incidence of prodromal symptoms and neurocognitive deficits characteristic of this syndrome. METHODS: Independent component analysis (ICA) was performed to identify RSNs in a combined sample of 55 individuals with 22q11DS (27 males; age range 17-26) and 29 controls (17 males; age range 17-23, consisting of 8 siblings without the deletion and 21 typically developed individuals) from two research sites. We conducted a full factorial analysis to determine group differences between 22q11DS and controls. A Poisson regression analysis was conducted in the 22q11DS group to determine relationships of rs-fMRI network connectivity with psychiatric symptoms based on factors of the 18-item Brief Psychiatric Rating Scale. Nonparametric Spearman correlations were performed to test associations between within-network functional connectivity (FC) and performance on measures of verbal memory (California Verbal Learning Test) and executive function (Behavior Rating Inventory of Executive Function Adult version) in 22q11DS. RESULTS: Between-group network connectivity analyses revealed significant differences in 9 RSNs. Decreased network FC in 22q11DS was observed in the following networks: high-level visual processing network (HLVPN), low-level visual processing network (LLVPN), visual/precuneus network, left frontal-parietal network (LFPN), right frontal-parietal network (RFPN), and self-referential network (SRN). In contrast, greater network FC in 22q11DS was observed in subclusters of the LLVPN, visual/precuneus network, limbic network (LN), default mode network (DMN), and visuospatial processing network (VSPN). Increased functional connectivity of the right cuneus (visual/precuneus network) and right superior parietal lobule (DMN) in 22q11DS was positively associated with both thought disturbance and disorganization factors of the Brief Psychiatric Rating Scale (BPRS). Decreased functional connectivity in the left posterior cingulate (LLVPN) was associated with higher thought disturbance scores in 22q11DS. No associations with our neurocognitive measures passed correction for multiple comparisons (Bonferroni-corrected p En ligne : http://dx.doi.org/10.1186/s11689-016-9135-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Atypical functional connectivity in resting-state networks of individuals with 22q11.2 deletion syndrome: associations with neurocognitive and psychiatric functioning [Texte imprimé et/ou numérique] / L. M. MATTIACCIO, Auteur ; I. L. COMAN, Auteur ; M. J. SCHREINER, Auteur ; Kevin M. ANTSHEL, Auteur ; W. P. FREMONT, Auteur ; Carrie E. BEARDEN, Auteur ; W. R. KATES, Auteur . - p.2. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.2 Mots-clés : 22q11.2 deletion syndrome  Ica  Resting-state fMRI  Schizophrenia Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with deficits in neuropsychological functioning and psychiatric disorders. This deletion confers a high risk for the development of psychosis, as approximately 30-45 % of individuals develop psychosis in adulthood. Previous reports of resting-state functional magnetic resonance imaging (rs-fMRI) functional connectivity patterns in 22q11DS have demonstrated that atypical connectivity is associated with both the emergence and severity of psychotic symptoms. However, due to sample overlap and large age ranges of samples spanning multiple critical periods of brain maturation, more independent studies with samples within the window of time when psychotic symptoms have been shown to emerge (ages 17-26) are needed. Resting-state networks (RSNs) in 22q11DS during this stage of brain development may thus provide insight into the dynamic changes in functional integration that influence the incidence of prodromal symptoms and neurocognitive deficits characteristic of this syndrome. METHODS: Independent component analysis (ICA) was performed to identify RSNs in a combined sample of 55 individuals with 22q11DS (27 males; age range 17-26) and 29 controls (17 males; age range 17-23, consisting of 8 siblings without the deletion and 21 typically developed individuals) from two research sites. We conducted a full factorial analysis to determine group differences between 22q11DS and controls. A Poisson regression analysis was conducted in the 22q11DS group to determine relationships of rs-fMRI network connectivity with psychiatric symptoms based on factors of the 18-item Brief Psychiatric Rating Scale. Nonparametric Spearman correlations were performed to test associations between within-network functional connectivity (FC) and performance on measures of verbal memory (California Verbal Learning Test) and executive function (Behavior Rating Inventory of Executive Function Adult version) in 22q11DS. RESULTS: Between-group network connectivity analyses revealed significant differences in 9 RSNs. Decreased network FC in 22q11DS was observed in the following networks: high-level visual processing network (HLVPN), low-level visual processing network (LLVPN), visual/precuneus network, left frontal-parietal network (LFPN), right frontal-parietal network (RFPN), and self-referential network (SRN). In contrast, greater network FC in 22q11DS was observed in subclusters of the LLVPN, visual/precuneus network, limbic network (LN), default mode network (DMN), and visuospatial processing network (VSPN). Increased functional connectivity of the right cuneus (visual/precuneus network) and right superior parietal lobule (DMN) in 22q11DS was positively associated with both thought disturbance and disorganization factors of the Brief Psychiatric Rating Scale (BPRS). Decreased functional connectivity in the left posterior cingulate (LLVPN) was associated with higher thought disturbance scores in 22q11DS. No associations with our neurocognitive measures passed correction for multiple comparisons (Bonferroni-corrected p En ligne : http://dx.doi.org/10.1186/s11689-016-9135-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome / Tessel BOERMA ; Emma EVERAERT ; Ellen GERRITS ; Michiel HOUBEN ; Frank WIJNEN ; Jacob VORSTMAN in Autism & Developmental Language Impairments, 8 (January-December 2023)  

Public ISBD [article]  inAutism & Developmental Language Impairments > 8 (January-December 2023) Titre : Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Tessel BOERMA, Auteur ; Emma EVERAERT, Auteur ; Ellen GERRITS, Auteur ; Michiel HOUBEN, Auteur ; Frank WIJNEN, Auteur ; Jacob VORSTMAN, Auteur Langues : Anglais (eng) Mots-clés : developmental language disorder  22q11.2 deletion syndrome  autism spectrum disorder Index. décimale : PER Périodiques Résumé : Background and Aim.Children with Developmental Language Disorder (DLD) are at an increased risk to develop behaviors associated with Autism Spectrum Disorder (ASD). The relationship between early language difficulties and the occurrence of ASD-related behaviors in DLD is poorly understood. One factor that may hinder progress in understanding this relationship is the etiological heterogeneity of DLD. We therefore study this relationship in an etiologically homogeneous group of children, who share phenotypic characteristics with children with DLD: children with the 22q11.2 Deletion Syndrome (22q11DS). We compare children with 22q11DS, to children with DLD and age-matched typically developing children (TD).Method44 children with 22q11DS, 65 children with DLD and 81 TD children, between 3.0-6.5 years old, participated in a longitudinal cohort study that included a baseline measure and a follow-up measure with a 1-year interval. A parental questionnaire (SRS-2) was used to measure the incidence of behaviors in two key behavioral domains associated with ASD: Social Communication and Interaction and Restricted Repetitive Behaviors and Interests. At baseline, we assessed children's expressive and receptive language abilities as well as their intellectual functioning with standardized tests. We compared the distribution of ASD-related behaviors between the three groups. We used regression analyses to investigate whether language abilities at baseline predict ASD-related behavior at follow-up, accounting for ASD-related behavior at baseline, demographic variables and intellectual functioning.ResultsBoth the children with 22q11DS and the children with DLD displayed significantly more ASD-related behaviors than the TD children. Over 30% of children in both clinical groups had scores exceeding the subclinical threshold for ASD in both behavioral domains. Both in 22q11DS and DLD, baseline receptive language scores were negatively correlated with ASD-related behaviors 1 year later, when controlling for baseline SRS-scores. However, this association was statistically significant only in children with 22q11DS, even when controlled for IQ-scores, and it was significantly stronger as than in the TD group. The strength of the association did not differ significantly between 22q11DS and DLD.ConclusionBoth children with 22q11DS and children with DLD present with elevated rates of ASD-related behaviors at a preschool-age. Only in children with 22q11DS we observed that weaker receptive language skills were related to increased behavioral problems in the domain of social communication and interaction one year later.ImplicationsOur findings indicate that relations between early language impairment and other behavioral phenotypes may be more feasible to detect in a subgroup of children with a homogeneous etiology, than in a group of children with a heterogeneous etiology (such as children with DLD). Our results in 22q11DS reveal that receptive language is especially important in predicting the occurrence of ASD-related behaviors. Future research is needed to determine to what extent receptive language predicts the occurrence of ASD-related behaviors in children with DLD, especially among those children with DLD with the weakest receptive language. Clinically, screening for ASD-related behaviors in children with developmental language difficulties is recommended from a young age, especially among children with receptive language difficulties. En ligne : https://dx.doi.org/10.1177/23969415231179844 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518 [article] Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / Tessel BOERMA, Auteur ; Emma EVERAERT, Auteur ; Ellen GERRITS, Auteur ; Michiel HOUBEN, Auteur ; Frank WIJNEN, Auteur ; Jacob VORSTMAN, Auteur. Langues : Anglais (eng) in Autism & Developmental Language Impairments > 8 (January-December 2023) Mots-clés : developmental language disorder  22q11.2 deletion syndrome  autism spectrum disorder Index. décimale : PER Périodiques Résumé : Background and Aim.Children with Developmental Language Disorder (DLD) are at an increased risk to develop behaviors associated with Autism Spectrum Disorder (ASD). The relationship between early language difficulties and the occurrence of ASD-related behaviors in DLD is poorly understood. One factor that may hinder progress in understanding this relationship is the etiological heterogeneity of DLD. We therefore study this relationship in an etiologically homogeneous group of children, who share phenotypic characteristics with children with DLD: children with the 22q11.2 Deletion Syndrome (22q11DS). We compare children with 22q11DS, to children with DLD and age-matched typically developing children (TD).Method44 children with 22q11DS, 65 children with DLD and 81 TD children, between 3.0-6.5 years old, participated in a longitudinal cohort study that included a baseline measure and a follow-up measure with a 1-year interval. A parental questionnaire (SRS-2) was used to measure the incidence of behaviors in two key behavioral domains associated with ASD: Social Communication and Interaction and Restricted Repetitive Behaviors and Interests. At baseline, we assessed children's expressive and receptive language abilities as well as their intellectual functioning with standardized tests. We compared the distribution of ASD-related behaviors between the three groups. We used regression analyses to investigate whether language abilities at baseline predict ASD-related behavior at follow-up, accounting for ASD-related behavior at baseline, demographic variables and intellectual functioning.ResultsBoth the children with 22q11DS and the children with DLD displayed significantly more ASD-related behaviors than the TD children. Over 30% of children in both clinical groups had scores exceeding the subclinical threshold for ASD in both behavioral domains. Both in 22q11DS and DLD, baseline receptive language scores were negatively correlated with ASD-related behaviors 1 year later, when controlling for baseline SRS-scores. However, this association was statistically significant only in children with 22q11DS, even when controlled for IQ-scores, and it was significantly stronger as than in the TD group. The strength of the association did not differ significantly between 22q11DS and DLD.ConclusionBoth children with 22q11DS and children with DLD present with elevated rates of ASD-related behaviors at a preschool-age. Only in children with 22q11DS we observed that weaker receptive language skills were related to increased behavioral problems in the domain of social communication and interaction one year later.ImplicationsOur findings indicate that relations between early language impairment and other behavioral phenotypes may be more feasible to detect in a subgroup of children with a homogeneous etiology, than in a group of children with a heterogeneous etiology (such as children with DLD). Our results in 22q11DS reveal that receptive language is especially important in predicting the occurrence of ASD-related behaviors. Future research is needed to determine to what extent receptive language predicts the occurrence of ASD-related behaviors in children with DLD, especially among those children with DLD with the weakest receptive language. Clinically, screening for ASD-related behaviors in children with developmental language difficulties is recommended from a young age, especially among children with receptive language difficulties. En ligne : https://dx.doi.org/10.1177/23969415231179844 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518

Deficits in Mental State Attributions in Individuals with 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) / Jennifer S. HO in Autism Research, 5-6 (December 2012)  

Public ISBD [article]  inAutism Research > 5-6 (December 2012) . - p.407-418 Titre : Deficits in Mental State Attributions in Individuals with 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) Type de document : Texte imprimé et/ou numérique Auteurs : Jennifer S. HO, Auteur ; Petya D. RADOEVA, Auteur ; Maria JALBRZIKOWSKI, Auteur ; Carolyn CHOW, Auteur ; Jessica HOPKINS, Auteur ; Wen-Ching TRAN, Auteur ; Ami MEHTA, Auteur ; Nicole ENRIQUE, Auteur ; Chelsea GILBERT, Auteur ; Kevin M. ANTSHEL, Auteur ; Wanda P. FREMONT, Auteur ; Wendy R. KATES, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : p.407-418 Mots-clés : 22q11.2 deletion syndrome  Velo-cardio-facial syndrome  Theory of Mind  Autism Spectrum Disorders  reciprocal social behavior  social cognition Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1252 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187 [article] Deficits in Mental State Attributions in Individuals with 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) [Texte imprimé et/ou numérique] / Jennifer S. HO, Auteur ; Petya D. RADOEVA, Auteur ; Maria JALBRZIKOWSKI, Auteur ; Carolyn CHOW, Auteur ; Jessica HOPKINS, Auteur ; Wen-Ching TRAN, Auteur ; Ami MEHTA, Auteur ; Nicole ENRIQUE, Auteur ; Chelsea GILBERT, Auteur ; Kevin M. ANTSHEL, Auteur ; Wanda P. FREMONT, Auteur ; Wendy R. KATES, Auteur ; Carrie E. BEARDEN, Auteur . - p.407-418. in Autism Research > 5-6 (December 2012) . - p.407-418 Mots-clés : 22q11.2 deletion syndrome  Velo-cardio-facial syndrome  Theory of Mind  Autism Spectrum Disorders  reciprocal social behavior  social cognition Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1252 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187

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

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

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Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype? / Kathleen ANGKUSTSIRI in Journal of Autism and Developmental Disorders, 44-4 (April 2014)  

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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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Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion syndrome / A. C. CUNNINGHAM in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

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22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / T. L. WENGER in Molecular Autism, 7 (2016)  

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