Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance / Kathleen P. O'HORA in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance Type de document : texte imprimé Auteurs : Kathleen P. O'HORA, Auteur ; Amy LIN, Auteur ; Leila KUSHAN-WELLS, Auteur ; Carrie E. BEARDEN, Auteur Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple  Child  Chromosome Duplication  Chromosomes, Human, Pair 22  DNA Copy Number Variations/genetics  DiGeorge Syndrome  Female  Humans  Male  Prevalence  Sleep  Sleep Wake Disorders/complications/epidemiology/genetics  22q11.2 locus  Autism spectrum disorder  Behavioral problems  Copy number variation  Developmental neuropsychiatric disorders  Executive function  Psychosis  Psychosis-risk symptoms  Schizophrenia Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is common, impairing, and may affect symptomatology in developmental neuropsychiatric disorders. Here, we take a genetics-first approach to study the complex role of sleep in psychopathology. Specifically, we examine severity of sleep disturbance in individuals with a reciprocal copy number variant (CNV) at the 22q11.2 locus and determine sleep's effect on psychiatric symptoms. CNVs (deletion or duplication) at this locus confer some of the greatest known risks of neuropsychiatric disorders; recent studies suggest the 22q11.2 deletion negatively impacts sleep, but sleep disruption associated with 22q11.2 duplication has not been investigated. METHODS: We compared subjective sleep disturbance and its relationship to psychiatric symptoms cross-sectionally and longitudinally over 1 year in 107 22q11.2 deletion (22qDel) carriers (14.56±8.0 years; 50% male), 42 22q11.2 duplication (22qDup) carriers (16.26±13.1 years; 54.8% male), and 88 age- and sex-matched controls (14.65±7.4 years; 47.1% male). Linear mixed models were used to compare sleep disturbance, assessed via the Structured Interview for Psychosis-Risk Syndromes (SIPS), across groups. Next, CNV carriers were categorized as good or poor sleepers to investigate sleep effects on multiple neurobehavioral traits: psychosis-risk symptoms (SIPS), autism-related behaviors (Repetitive Behavior Scale (RBS) and Social Responsiveness Scale (SRS)), real-world executive function (Behavior Rating Inventory of Executive Function (BRIEF)), and emotional/behavioral problems (Child Behavior Checklist (CBCL)). Linear mixed models tested the effect of sleep category and a group-by-sleep interaction on each measure, cross-sectionally and longitudinally. RESULTS: 22qDel and 22qDup carriers both reported poorer sleep than controls, but did not differ from each other. Cross-sectionally and longitudinally, poor sleepers scored higher on positive symptoms, anxious/depressed, somatic complaints, thought problems, and aggressive behavior, as well as RBS and SRS total scores. There were significant group-by-sleep interactions for positive symptoms and the majority of CBCL subdomains, in which the difference between good and poor sleepers was larger in 22qDel compared to 22qDup. CONCLUSIONS: Our findings indicate that CNVs at the 22q11.2 locus impact sleep which, in turn, influences psychopathology. Sleep disturbances can differentially impact psychopathology, depending on 22q11.2 gene dosage. Our findings serve as a starting point for exploring a genetic basis for sleep disturbance in developmental neuropsychiatric disorders. En ligne : https://dx.doi.org/10.1186/s11689-022-09450-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance [texte imprimé] / Kathleen P. O'HORA, Auteur ; Amy LIN, Auteur ; Leila KUSHAN-WELLS, Auteur ; Carrie E. BEARDEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Abnormalities, Multiple  Child  Chromosome Duplication  Chromosomes, Human, Pair 22  DNA Copy Number Variations/genetics  DiGeorge Syndrome  Female  Humans  Male  Prevalence  Sleep  Sleep Wake Disorders/complications/epidemiology/genetics  22q11.2 locus  Autism spectrum disorder  Behavioral problems  Copy number variation  Developmental neuropsychiatric disorders  Executive function  Psychosis  Psychosis-risk symptoms  Schizophrenia Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is common, impairing, and may affect symptomatology in developmental neuropsychiatric disorders. Here, we take a genetics-first approach to study the complex role of sleep in psychopathology. Specifically, we examine severity of sleep disturbance in individuals with a reciprocal copy number variant (CNV) at the 22q11.2 locus and determine sleep's effect on psychiatric symptoms. CNVs (deletion or duplication) at this locus confer some of the greatest known risks of neuropsychiatric disorders; recent studies suggest the 22q11.2 deletion negatively impacts sleep, but sleep disruption associated with 22q11.2 duplication has not been investigated. METHODS: We compared subjective sleep disturbance and its relationship to psychiatric symptoms cross-sectionally and longitudinally over 1 year in 107 22q11.2 deletion (22qDel) carriers (14.56±8.0 years; 50% male), 42 22q11.2 duplication (22qDup) carriers (16.26±13.1 years; 54.8% male), and 88 age- and sex-matched controls (14.65±7.4 years; 47.1% male). Linear mixed models were used to compare sleep disturbance, assessed via the Structured Interview for Psychosis-Risk Syndromes (SIPS), across groups. Next, CNV carriers were categorized as good or poor sleepers to investigate sleep effects on multiple neurobehavioral traits: psychosis-risk symptoms (SIPS), autism-related behaviors (Repetitive Behavior Scale (RBS) and Social Responsiveness Scale (SRS)), real-world executive function (Behavior Rating Inventory of Executive Function (BRIEF)), and emotional/behavioral problems (Child Behavior Checklist (CBCL)). Linear mixed models tested the effect of sleep category and a group-by-sleep interaction on each measure, cross-sectionally and longitudinally. RESULTS: 22qDel and 22qDup carriers both reported poorer sleep than controls, but did not differ from each other. Cross-sectionally and longitudinally, poor sleepers scored higher on positive symptoms, anxious/depressed, somatic complaints, thought problems, and aggressive behavior, as well as RBS and SRS total scores. There were significant group-by-sleep interactions for positive symptoms and the majority of CBCL subdomains, in which the difference between good and poor sleepers was larger in 22qDel compared to 22qDup. CONCLUSIONS: Our findings indicate that CNVs at the 22q11.2 locus impact sleep which, in turn, influences psychopathology. Sleep disturbances can differentially impact psychopathology, depending on 22q11.2 gene dosage. Our findings serve as a starting point for exploring a genetic basis for sleep disturbance in developmental neuropsychiatric disorders. En ligne : https://dx.doi.org/10.1186/s11689-022-09450-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 97 (September 2022) . - 102026 Titre : Early developmental concerns in 22q11.2 deletion and duplication carriers Type de document : texte imprimé Auteurs : Eve S. KORTANEK, Auteur ; Nicole M. MCDONALD, Auteur ; Erin E. NOSCO, Auteur ; Gabrielle A. MACNAUGHTON, Auteur ; Amy LIN, Auteur ; Shafali S. JESTE, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : 102026 Langues : Anglais (eng) Mots-clés : Copy number variants  22q11.2  Early development  Developmental concerns  Social communication Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL (N = 63) or 22qDUP (N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires ”the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC) ”screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk. En ligne : https://doi.org/10.1016/j.rasd.2022.102026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Early developmental concerns in 22q11.2 deletion and duplication carriers [texte imprimé] / Eve S. KORTANEK, Auteur ; Nicole M. MCDONALD, Auteur ; Erin E. NOSCO, Auteur ; Gabrielle A. MACNAUGHTON, Auteur ; Amy LIN, Auteur ; Shafali S. JESTE, Auteur ; Carrie E. BEARDEN, Auteur . - 102026. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 97 (September 2022) . - 102026 Mots-clés : Copy number variants  22q11.2  Early development  Developmental concerns  Social communication Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL (N = 63) or 22qDUP (N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires ”the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC) ”screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk. En ligne : https://doi.org/10.1016/j.rasd.2022.102026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders / Rhideeta JALAL in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders Type de document : texte imprimé Auteurs : Rhideeta JALAL, Auteur ; Aarti NAIR, Auteur ; Amy LIN, Auteur ; Ariel ECKFELD, Auteur ; Leila KUSHAN, Auteur ; Jamie ZINBERG, Auteur ; Katherine H. KARLSGODT, Auteur ; Tyrone D. CANNON, Auteur ; Carrie E. BEARDEN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder  Child  Cognition  DiGeorge Syndrome  Female  Humans  Male  Psychotic Disorders  Social Cognition  Young Adult  22q11.2 deletion  Neurocognition  Psychosis  Social cognition Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. METHODS: We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74 ± 5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II) to assess intellectual functioning. RESULTS: The 22q11DS group exhibited significantly lower social cognitive abilities compared to CHR, FEP, and HC groups after controlling for intellectual functioning, but not in comparison to the ASD group. Significant positive correlations were found between social cognition, as measured by the TASIT and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. CONCLUSIONS: Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09363-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders [texte imprimé] / Rhideeta JALAL, Auteur ; Aarti NAIR, Auteur ; Amy LIN, Auteur ; Ariel ECKFELD, Auteur ; Leila KUSHAN, Auteur ; Jamie ZINBERG, Auteur ; Katherine H. KARLSGODT, Auteur ; Tyrone D. CANNON, Auteur ; Carrie E. BEARDEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Autism Spectrum Disorder  Child  Cognition  DiGeorge Syndrome  Female  Humans  Male  Psychotic Disorders  Social Cognition  Young Adult  22q11.2 deletion  Neurocognition  Psychosis  Social cognition Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. METHODS: We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74 ± 5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II) to assess intellectual functioning. RESULTS: The 22q11DS group exhibited significantly lower social cognitive abilities compared to CHR, FEP, and HC groups after controlling for intellectual functioning, but not in comparison to the ASD group. Significant positive correlations were found between social cognition, as measured by the TASIT and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. CONCLUSIONS: Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09363-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

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