Atypical functional connectivity in resting-state networks of individuals with 22q11.2 deletion syndrome: associations with neurocognitive and psychiatric functioning / Leah 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 Auteurs : Leah M. MATTIACCIO, Auteur ; Ioana L. COMAN, Auteur ; Matthew J. SCHREINER, Auteur ; Kevin M. ANTSHEL, Auteur ; Wanda FREMONT, Auteur ; Carrie E. BEARDEN, Auteur ; Wendy 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] / Leah M. MATTIACCIO, Auteur ; Ioana L. COMAN, Auteur ; Matthew J. SCHREINER, Auteur ; Kevin M. ANTSHEL, Auteur ; Wanda FREMONT, Auteur ; Carrie E. BEARDEN, Auteur ; Wendy 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

Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion) / Kevin M. ANTSHEL in Journal of Autism and Developmental Disorders, 37-9 (October 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-9 (October 2007) . - p.1776-1786 Titre : Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion) Type de document : texte imprimé Auteurs : Kevin M. ANTSHEL, Auteur ; Robert J. SHPRINTZEN, Auteur ; Anne Marie HIGGINS, Auteur ; Nuria ABDULSABUR, Auteur ; Wanda FREMONT, Auteur ; Jena PEEBLES, Auteur ; Leslie STRUNGE, Auteur ; Alka ANEJA, Auteur ; Kimberly STALLONE, Auteur ; Wendy R. KATES, Auteur Année de publication : 2007 Article en page(s) : p.1776-1786 Langues : Anglais (eng) Mots-clés : Velocardiofacial-syndrome 22q11.2-deletion Autism-spectrum-disorder Amygdala Index. décimale : PER Périodiques Résumé : The extent to which the phenotype of children comorbid for velocardiofacial syndrome (VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been studied. The sample consisted of 41 children (20 females) with VCFS, ranging in age from 6.5 years to 15.8 years. Eight children with VCFS met formal DSM-IV diagnostic criteria for autism based upon the ADI-R. These eight plus an additional nine participants met diagnostic criteria for an autistic spectrum disorder (VCFS + ASD). Ninety-four percent of the children with VCFS + ASD had a co-occurring psychiatric disorder while 60% of children with VCFS had a psychiatric disorder. Children with VCFS + ASD had larger right amygdala volumes. All other neuroanatomic regions of interest were statistically similar between the two groups. En ligne : http://dx.doi.org/10.1007/s10803-006-0308-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=175 [article] Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion) [texte imprimé] / Kevin M. ANTSHEL, Auteur ; Robert J. SHPRINTZEN, Auteur ; Anne Marie HIGGINS, Auteur ; Nuria ABDULSABUR, Auteur ; Wanda FREMONT, Auteur ; Jena PEEBLES, Auteur ; Leslie STRUNGE, Auteur ; Alka ANEJA, Auteur ; Kimberly STALLONE, Auteur ; Wendy R. KATES, Auteur . - 2007 . - p.1776-1786. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-9 (October 2007) . - p.1776-1786 Mots-clés : Velocardiofacial-syndrome 22q11.2-deletion Autism-spectrum-disorder Amygdala Index. décimale : PER Périodiques Résumé : The extent to which the phenotype of children comorbid for velocardiofacial syndrome (VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been studied. The sample consisted of 41 children (20 females) with VCFS, ranging in age from 6.5 years to 15.8 years. Eight children with VCFS met formal DSM-IV diagnostic criteria for autism based upon the ADI-R. These eight plus an additional nine participants met diagnostic criteria for an autistic spectrum disorder (VCFS + ASD). Ninety-four percent of the children with VCFS + ASD had a co-occurring psychiatric disorder while 60% of children with VCFS had a psychiatric disorder. Children with VCFS + ASD had larger right amygdala volumes. All other neuroanatomic regions of interest were statistically similar between the two groups. En ligne : http://dx.doi.org/10.1007/s10803-006-0308-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=175

Childhood Predictors of Young Adult Social Functioning in 22q11.2 Deletion Syndrome / Kayla E. WAGNER in Journal of Autism and Developmental Disorders, 47-8 (August 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-8 (August 2017) . - p.2480-2501 Titre : Childhood Predictors of Young Adult Social Functioning in 22q11.2 Deletion Syndrome Type de document : texte imprimé Auteurs : Kayla E. WAGNER, Auteur ; Wendy R. KATES, Auteur ; Wanda FREMONT, Auteur ; Kevin M. ANTSHEL, Auteur Article en page(s) : p.2480-2501 Langues : Anglais (eng) Mots-clés : Social functioning  22q11.2 Deletion Syndrome (22q11.2DS)  Developmental delay  Internalizing  Longitudinal Index. décimale : PER Périodiques Résumé : The primary objectives of the current prospective longitudinal study were to (a) describe social functioning outcomes and (b) identify childhood predictors of social functioning in young adults with 22q11.2 deletion syndrome (22q11.2DS). Childhood predictors of young adult social functioning were examined. Family environment and parental stress in adolescence were investigated as potential mediators between childhood variables and adult social functioning. Parent rated childhood internalizing symptoms significantly predicted young adult social functioning in 22q11.2DS, even after controlling for concurrent positive symptoms of psychosis, and problem behaviors contributing to parenting stress in adolescence partially mediated this relationship. These findings highlight child internalizing symptoms and adolescent problem behaviors as potential targets for social functioning interventions in 22q11.2DS. En ligne : https://doi.org/10.1007/s10803-017-3165-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315 [article] Childhood Predictors of Young Adult Social Functioning in 22q11.2 Deletion Syndrome [texte imprimé] / Kayla E. WAGNER, Auteur ; Wendy R. KATES, Auteur ; Wanda FREMONT, Auteur ; Kevin M. ANTSHEL, Auteur . - p.2480-2501. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-8 (August 2017) . - p.2480-2501 Mots-clés : Social functioning  22q11.2 Deletion Syndrome (22q11.2DS)  Developmental delay  Internalizing  Longitudinal Index. décimale : PER Périodiques Résumé : The primary objectives of the current prospective longitudinal study were to (a) describe social functioning outcomes and (b) identify childhood predictors of social functioning in young adults with 22q11.2 deletion syndrome (22q11.2DS). Childhood predictors of young adult social functioning were examined. Family environment and parental stress in adolescence were investigated as potential mediators between childhood variables and adult social functioning. Parent rated childhood internalizing symptoms significantly predicted young adult social functioning in 22q11.2DS, even after controlling for concurrent positive symptoms of psychosis, and problem behaviors contributing to parenting stress in adolescence partially mediated this relationship. These findings highlight child internalizing symptoms and adolescent problem behaviors as potential targets for social functioning interventions in 22q11.2DS. En ligne : https://doi.org/10.1007/s10803-017-3165-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315

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 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 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] / 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 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

Longitudinal study of cerebral surface morphology in youth with 22q11.2 deletion syndrome, and association with positive symptoms of psychosis / Petya D. RADOEVA in Journal of Child Psychology and Psychiatry, 58-3 (March 2017)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 58-3 (March 2017) . - p.305-314 Titre : Longitudinal study of cerebral surface morphology in youth with 22q11.2 deletion syndrome, and association with positive symptoms of psychosis Type de document : texte imprimé Auteurs : Petya D. RADOEVA, Auteur ; Ravi BANSAL, Auteur ; Kevin M. ANTSHEL, Auteur ; Wanda FREMONT, Auteur ; Bradley S. PETERSON, Auteur ; Wendy R. KATES, Auteur Article en page(s) : p.305-314 Langues : Anglais (eng) Mots-clés : Velo-cardio-facial syndrome  psychosis  ‘cortical morphology’  prodromal Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletion syndrome (22q11DS) is a genetic disorder that greatly increases risk of developing schizophrenia. We previously characterized cerebral surface morphology trajectories from late childhood to mid adolescence in a cohort of youth with 22q11DS. Herein, we extend the study period into early adulthood, and describe further the trajectories associated with severe psychiatric symptoms in this cohort. Methods Participants included 76 youth with 22q11DS and 30 unaffected siblings, assessed at three timepoints, during which high resolution, anatomic magnetic resonance images were acquired. High-dimensional, nonlinear warping algorithms were applied to images in order to derive characteristics of cerebral surface morphology for each participant at each timepoint. Repeated-measures, linear regressions using a mixed model were conducted, while covarying for age and sex. Results Alterations in cerebral surface morphology during late adolescence/early adulthood in individuals with 22q11DS were observed in the lateral frontal, orbitofrontal, temporal, parietal, occipital, and cerebellar regions. An Age x Diagnosis interaction revealed that relative to unaffected siblings, individuals with 22q11DS showed age-related surface protrusions in the prefrontal cortex (which remained stable or increased during early adulthood), and surface indentations in posterior regions (which seemed to level off during late adolescence). Symptoms of psychosis were associated with a trajectory of surface indentations in the orbitofrontal and parietal regions. Conclusions These results advance our understanding of cerebral maturation in individuals with 22q11DS, and provide clinically relevant information about the psychiatric phenotype associated with the longitudinal trajectory of cortical surface morphology in youth with this genetic syndrome. En ligne : http://dx.doi.org/10.1111/jcpp.12657 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303 [article] Longitudinal study of cerebral surface morphology in youth with 22q11.2 deletion syndrome, and association with positive symptoms of psychosis [texte imprimé] / Petya D. RADOEVA, Auteur ; Ravi BANSAL, Auteur ; Kevin M. ANTSHEL, Auteur ; Wanda FREMONT, Auteur ; Bradley S. PETERSON, Auteur ; Wendy R. KATES, Auteur . - p.305-314. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 58-3 (March 2017) . - p.305-314 Mots-clés : Velo-cardio-facial syndrome  psychosis  ‘cortical morphology’  prodromal Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletion syndrome (22q11DS) is a genetic disorder that greatly increases risk of developing schizophrenia. We previously characterized cerebral surface morphology trajectories from late childhood to mid adolescence in a cohort of youth with 22q11DS. Herein, we extend the study period into early adulthood, and describe further the trajectories associated with severe psychiatric symptoms in this cohort. Methods Participants included 76 youth with 22q11DS and 30 unaffected siblings, assessed at three timepoints, during which high resolution, anatomic magnetic resonance images were acquired. High-dimensional, nonlinear warping algorithms were applied to images in order to derive characteristics of cerebral surface morphology for each participant at each timepoint. Repeated-measures, linear regressions using a mixed model were conducted, while covarying for age and sex. Results Alterations in cerebral surface morphology during late adolescence/early adulthood in individuals with 22q11DS were observed in the lateral frontal, orbitofrontal, temporal, parietal, occipital, and cerebellar regions. An Age x Diagnosis interaction revealed that relative to unaffected siblings, individuals with 22q11DS showed age-related surface protrusions in the prefrontal cortex (which remained stable or increased during early adulthood), and surface indentations in posterior regions (which seemed to level off during late adolescence). Symptoms of psychosis were associated with a trajectory of surface indentations in the orbitofrontal and parietal regions. Conclusions These results advance our understanding of cerebral maturation in individuals with 22q11DS, and provide clinically relevant information about the psychiatric phenotype associated with the longitudinal trajectory of cortical surface morphology in youth with this genetic syndrome. En ligne : http://dx.doi.org/10.1111/jcpp.12657 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303

Longitudinal study of premorbid adjustment in 22q11.2 deletion (velocardiofacial) syndrome and association with psychosis / Petya D. RADOEVA in Development and Psychopathology, 29-1 (February 2017)  

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Velo-cardio-facial Syndrome / Kevin M. ANTSHEL

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