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

Childhood trauma and cognitive functioning in individuals at clinical high risk (CHR) for psychosis / T. VELIKONJA in Development and Psychopathology, 33-1 (February 2021)  

Public ISBD [article]  inDevelopment and Psychopathology > 33-1 (February 2021) . - p.53-64 Titre : Childhood trauma and cognitive functioning in individuals at clinical high risk (CHR) for psychosis Type de document : Texte imprimé et/ou numérique Auteurs : T. VELIKONJA, Auteur ; E. VELTHORST, Auteur ; J. ZINBERG, Auteur ; Tyrone D. CANNON, Auteur ; Barbara A. CORNBLATT, Auteur ; Diana O. PERKINS, Auteur ; Kristin S. CADENHEAD, Auteur ; M. T. TSUANG, Auteur ; Jean ADDINGTON, Auteur ; S. W. WOODS, Auteur ; T. MCGLASHAN, Auteur ; D. H. MATHALON, Auteur ; W. STONE, Auteur ; M. KESHAVAN, Auteur ; L. SEIDMAN, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : p.53-64 Langues : Anglais (eng) Mots-clés : childhood trauma  clinical high risk  nonsocial cognition  psychosis  social cognition Index. décimale : PER Périodiques Résumé : Evidence suggests that early trauma may have a negative effect on cognitive functioning in individuals with psychosis, yet the relationship between childhood trauma and cognition among those at clinical high risk (CHR) for psychosis remains unexplored. Our sample consisted of 626 CHR children and 279 healthy controls who were recruited as part of the North American Prodrome Longitudinal Study 2. Childhood trauma up to the age of 16 (psychological, physical, and sexual abuse, emotional neglect, and bullying) was assessed by using the Childhood Trauma and Abuse Scale. Multiple domains of cognition were measured at baseline and at the time of psychosis conversion, using standardized assessments. In the CHR group, there was a trend for better performance in individuals who reported a history of multiple types of childhood trauma compared with those with no/one type of trauma (Cohen d = 0.16). A history of multiple trauma types was not associated with greater cognitive change in CHR converters over time. Our findings tentatively suggest there may be different mechanisms that lead to CHR states. Individuals who are at clinical high risk who have experienced multiple types of childhood trauma may have more typically developing premorbid cognitive functioning than those who reported minimal trauma do. Further research is needed to unravel the complexity of factors underlying the development of at-risk states. En ligne : http://dx.doi.org/10.1017/s095457941900155x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442 [article] Childhood trauma and cognitive functioning in individuals at clinical high risk (CHR) for psychosis [Texte imprimé et/ou numérique] / T. VELIKONJA, Auteur ; E. VELTHORST, Auteur ; J. ZINBERG, Auteur ; Tyrone D. CANNON, Auteur ; Barbara A. CORNBLATT, Auteur ; Diana O. PERKINS, Auteur ; Kristin S. CADENHEAD, Auteur ; M. T. TSUANG, Auteur ; Jean ADDINGTON, Auteur ; S. W. WOODS, Auteur ; T. MCGLASHAN, Auteur ; D. H. MATHALON, Auteur ; W. STONE, Auteur ; M. KESHAVAN, Auteur ; L. SEIDMAN, Auteur ; Carrie E. BEARDEN, Auteur . - p.53-64. Langues : Anglais (eng) in Development and Psychopathology > 33-1 (February 2021) . - p.53-64 Mots-clés : childhood trauma  clinical high risk  nonsocial cognition  psychosis  social cognition Index. décimale : PER Périodiques Résumé : Evidence suggests that early trauma may have a negative effect on cognitive functioning in individuals with psychosis, yet the relationship between childhood trauma and cognition among those at clinical high risk (CHR) for psychosis remains unexplored. Our sample consisted of 626 CHR children and 279 healthy controls who were recruited as part of the North American Prodrome Longitudinal Study 2. Childhood trauma up to the age of 16 (psychological, physical, and sexual abuse, emotional neglect, and bullying) was assessed by using the Childhood Trauma and Abuse Scale. Multiple domains of cognition were measured at baseline and at the time of psychosis conversion, using standardized assessments. In the CHR group, there was a trend for better performance in individuals who reported a history of multiple types of childhood trauma compared with those with no/one type of trauma (Cohen d = 0.16). A history of multiple trauma types was not associated with greater cognitive change in CHR converters over time. Our findings tentatively suggest there may be different mechanisms that lead to CHR states. Individuals who are at clinical high risk who have experienced multiple types of childhood trauma may have more typically developing premorbid cognitive functioning than those who reported minimal trauma do. Further research is needed to unravel the complexity of factors underlying the development of at-risk states. En ligne : http://dx.doi.org/10.1017/s095457941900155x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442

Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome / J. FROHLICH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 37 p. Titre : Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. FROHLICH, Auteur ; L. T. REITER, Auteur ; V. SARAVANAPANDIAN, Auteur ; C. DISTEFANO, Auteur ; S. HUBERTY, Auteur ; C. HYDE, Auteur ; S. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; P. GOLSHANI, Auteur ; A. IRIMIA, Auteur ; R. W. OLSEN, Auteur ; J. F. HIPP, Auteur ; S. S. JESTE, Auteur Article en page(s) : 37 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-019-0280-6.]. En ligne : http://dx.doi.org/10.1186/s13229-019-0288-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome [Texte imprimé et/ou numérique] / J. FROHLICH, Auteur ; L. T. REITER, Auteur ; V. SARAVANAPANDIAN, Auteur ; C. DISTEFANO, Auteur ; S. HUBERTY, Auteur ; C. HYDE, Auteur ; S. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; P. GOLSHANI, Auteur ; A. IRIMIA, Auteur ; R. W. OLSEN, Auteur ; J. F. HIPP, Auteur ; S. S. JESTE, Auteur . - 37 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 37 p. Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-019-0280-6.]. En ligne : http://dx.doi.org/10.1186/s13229-019-0288-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

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

Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus / Leila KUSHAN-WELLS ; Charles H. SCHLEIFER ; Shayne CRUZ ; Gil D. HOFTMAN ; Maria JALBRZIKOWSKI ; Raquel E. GUR ; Ruben C. GUR ; Carrie E. BEARDEN in Autism Research, 16-12 (December 2023)  

Public ISBD [article]  inAutism Research > 16-12 (December 2023) . - p.2247-2262 Titre : Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus Type de document : Texte imprimé et/ou numérique Auteurs : Leila KUSHAN-WELLS, Auteur ; Charles H. SCHLEIFER, Auteur ; Shayne CRUZ, Auteur ; Gil D. HOFTMAN, Auteur ; Maria JALBRZIKOWSKI, Auteur ; Raquel E. GUR, Auteur ; Ruben C. GUR, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : p.2247-2262 Index. décimale : PER Périodiques Résumé : Abstract Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn-CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (MAge = 19.2?years, 49.1% male), 30 22qDup carriers (MAge = 17.3?years, 53.3% male), and 41 typically developing (TD) subjects (MAge = 17.3?years, 39.0% male). We performed linear mixed models to assess group differences in overall neurocognitive profiles, domain scores, and individual test scores. We found all three groups exhibited distinct overall neurocognitive profiles. 22qDel and 22qDup carriers showed significant accuracy deficits across all domains relative to controls (episodic memory, executive function, complex cognition, social cognition, and sensorimotor speed), with 22qDel carriers exhibiting more severe accuracy deficits, particularly in episodic memory. However, 22qDup carriers generally showed greater slowing than 22qDel carriers. Notably, slower social cognition speed was uniquely associated with increased global psychopathology and poorer psychosocial functioning in 22qDup. Compared to TD, 22q11.2 copy number variants (CNV) carriers failed to show age-associated improvements in multiple cognitive domains. Exploratory analyses revealed 22q11.2 CNV carriers with ASD exhibited differential neurocognitive profiles, based on 22q11.2 copy number. These results suggest that there are distinct neurocognitive profiles associated with either a loss or gain of genomic material at the 22q11.2 locus. En ligne : https://doi.org/10.1002/aur.3049 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518 [article] Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus [Texte imprimé et/ou numérique] / Leila KUSHAN-WELLS, Auteur ; Charles H. SCHLEIFER, Auteur ; Shayne CRUZ, Auteur ; Gil D. HOFTMAN, Auteur ; Maria JALBRZIKOWSKI, Auteur ; Raquel E. GUR, Auteur ; Ruben C. GUR, Auteur ; Carrie E. BEARDEN, Auteur . - p.2247-2262. in Autism Research > 16-12 (December 2023) . - p.2247-2262 Index. décimale : PER Périodiques Résumé : Abstract Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn-CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (MAge = 19.2?years, 49.1% male), 30 22qDup carriers (MAge = 17.3?years, 53.3% male), and 41 typically developing (TD) subjects (MAge = 17.3?years, 39.0% male). We performed linear mixed models to assess group differences in overall neurocognitive profiles, domain scores, and individual test scores. We found all three groups exhibited distinct overall neurocognitive profiles. 22qDel and 22qDup carriers showed significant accuracy deficits across all domains relative to controls (episodic memory, executive function, complex cognition, social cognition, and sensorimotor speed), with 22qDel carriers exhibiting more severe accuracy deficits, particularly in episodic memory. However, 22qDup carriers generally showed greater slowing than 22qDel carriers. Notably, slower social cognition speed was uniquely associated with increased global psychopathology and poorer psychosocial functioning in 22qDup. Compared to TD, 22q11.2 copy number variants (CNV) carriers failed to show age-associated improvements in multiple cognitive domains. Exploratory analyses revealed 22q11.2 CNV carriers with ASD exhibited differential neurocognitive profiles, based on 22q11.2 copy number. These results suggest that there are distinct neurocognitive profiles associated with either a loss or gain of genomic material at the 22q11.2 locus. En ligne : https://doi.org/10.1002/aur.3049 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518

Early developmental concerns in 22q11.2 deletion and duplication carriers / Eve S. KORTANEK in Research in Autism Spectrum Disorders, 97 (September 2022)  

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Mechanisms underlying the EEG biomarker in Dup15q syndrome / J. FROHLICH in Molecular Autism, 10 (2019)  

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Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion / Maria GUDBRANDSEN in Molecular Autism, 11 (2020)  

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Potentially important periods of change in the development of social and role functioning in youth at clinical high risk for psychosis / Eva VELTHORST in Development and Psychopathology, 30-1 (February 2018)  

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Reciprocal social behavior in youths with psychotic illness and those at clinical high risk / Maria JALBRZIKOWSKI in Development and Psychopathology, 25-4 (November 2013)  

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Stress perception following childhood adversity: Unique associations with adversity type and sex / Allison M. LOPILATO in Development and Psychopathology, 32-1 (February 2020)  

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Time Reproduction Performance Is Associated With Age and Working Memory in High-Functioning Youth With Autism Spectrum Disorder / Laurie A. BRENNER in Autism Research, 8-1 (February 2015)  

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