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Auteur Maria JALBRZIKOWSKI |
Documents disponibles écrits par cet auteur (3)
Faire une suggestion Affiner la rechercheDeficits 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)
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
inDevelopment and Psychopathology > 25-4 (November 2013) . - p.1187-1197
Titre : Reciprocal social behavior in youths with psychotic illness and those at clinical high risk Type de document : Texte imprimé et/ou numérique Auteurs : Maria JALBRZIKOWSKI, Auteur ; Kate E. KRASILEVA, Auteur ; Sarah MARVIN, Auteur ; Jamie ZINBERG, Auteur ; Angielette ANDAYA, Auteur ; Peter BACHMAN, Auteur ; Tyrone D. CANNON, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : p.1187-1197 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Youths at clinical high risk (CHR) for psychosis typically exhibit significant social dysfunction. However, the specific social behaviors associated with psychosis risk have not been well characterized. We administer the Social Responsiveness Scale (SRS), a measure of autistic traits that examines reciprocal social behavior, to the parents of 117 adolescents (61 CHR individuals, 20 age-matched adolescents with a psychotic disorder [AOP], and 36 healthy controls) participating in a longitudinal study of psychosis risk. AOP and CHR individuals have significantly elevated SRS scores relative to healthy controls, indicating more severe social deficits. Mean scores for AOP and CHR youths are typical of scores obtained in individuals with high functioning autism (Constantino Gruber, 2005). SRS scores are significantly associated with concurrent real-world social functioning in both clinical groups. Finally, baseline SRS scores significantly predict social functioning at follow-up (an average of 7.2 months later) in CHR individuals, over and above baseline social functioning measures (p .009). These findings provide novel information regarding impairments in domains critical for adolescent social development, because CHR individuals and those with overt psychosis show marked deficits in reciprocal social behavior. Further, the SRS predicts subsequent real-world social functioning in CHR youth, suggesting that this measure may be useful for identifying targets of treatment in psychosocial interventions. En ligne : http://dx.doi.org/10.1017/S095457941300045X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=219 [article] Reciprocal social behavior in youths with psychotic illness and those at clinical high risk [Texte imprimé et/ou numérique] / Maria JALBRZIKOWSKI, Auteur ; Kate E. KRASILEVA, Auteur ; Sarah MARVIN, Auteur ; Jamie ZINBERG, Auteur ; Angielette ANDAYA, Auteur ; Peter BACHMAN, Auteur ; Tyrone D. CANNON, Auteur ; Carrie E. BEARDEN, Auteur . - p.1187-1197.
Langues : Anglais (eng)
in Development and Psychopathology > 25-4 (November 2013) . - p.1187-1197
Index. décimale : PER Périodiques Résumé : Youths at clinical high risk (CHR) for psychosis typically exhibit significant social dysfunction. However, the specific social behaviors associated with psychosis risk have not been well characterized. We administer the Social Responsiveness Scale (SRS), a measure of autistic traits that examines reciprocal social behavior, to the parents of 117 adolescents (61 CHR individuals, 20 age-matched adolescents with a psychotic disorder [AOP], and 36 healthy controls) participating in a longitudinal study of psychosis risk. AOP and CHR individuals have significantly elevated SRS scores relative to healthy controls, indicating more severe social deficits. Mean scores for AOP and CHR youths are typical of scores obtained in individuals with high functioning autism (Constantino Gruber, 2005). SRS scores are significantly associated with concurrent real-world social functioning in both clinical groups. Finally, baseline SRS scores significantly predict social functioning at follow-up (an average of 7.2 months later) in CHR individuals, over and above baseline social functioning measures (p .009). These findings provide novel information regarding impairments in domains critical for adolescent social development, because CHR individuals and those with overt psychosis show marked deficits in reciprocal social behavior. Further, the SRS predicts subsequent real-world social functioning in CHR youth, suggesting that this measure may be useful for identifying targets of treatment in psychosocial interventions. En ligne : http://dx.doi.org/10.1017/S095457941300045X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=219
