Atypical neural variability in carriers of 16p11.2 copy number variants / Reem AL-JAWAHIRI in Autism Research, 12-9 (September 2019)  

Public ISBD [article]  inAutism Research > 12-9 (September 2019) . - p.1322-1333 Titre : Atypical neural variability in carriers of 16p11.2 copy number variants Type de document : texte imprimé Auteurs : Reem AL-JAWAHIRI, Auteur ; Myles JONES, Auteur ; Elizabeth MILNE, Auteur Article en page(s) : p.1322-1333 Langues : Anglais (eng) Mots-clés : alpha rhythm  cognitive neuroscience  copy number variation/copy number variants  electroencephalography  event-related potentials  gene-dosage effect  genetic/genomic syndromes Index. décimale : PER Périodiques Résumé : Copy number variations (CNVs) at the 16p11.2 chromosomal region are associated with myriad clinical features including intellectual disability and autism spectrum disorder. The aim of this study is to determine whether 16p11.2 deletion (DEL) and duplication (DUP) carriers demonstrate a distinct and reciprocal pattern of electroencephalography (EEG) activity as represented by neural variability measures. EEG data were previously collected as part of the Simons Variation in Individuals Project. Variability measures, as estimated by single-trial ERP and spectral power analyses in the alpha and beta frequency bands, in addition to signal-to-noise ratios (SNRs), were analyzed in DEL (n = 20), DUP (n = 8), and typical (n = 11) groups. We also analyzed mean visual evoked potentials and spectral power (alpha and beta power) to facilitate comparisons with other studies of associated disorders and CNVs. From measures of single-trial variability, we found higher intraparticipant variability in P1 amplitude and timecourse amplitude in DEL compared to controls. Compared to DUP, DEL showed higher variability in absolute alpha and absolute beta power but lower variability in P1 latency. SNRs did not differ between the groups. From measures of amplitude, latency, and spectral power, DUP showed lower relative alpha power compared to controls. Although it is yet unclear whether 16p11.2 CNV dosage impacts neural activity in an opposing manner, findings suggest that 16p11.2 DEL impacts the level of variability of neural responses. Higher neural variability may play a role in a range of cognitive processes in 16p11.2 CNV carriers. Autism Res 2019, 12: 1322-1333. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The study analyzed the consistency of patterns of brain waves and rhythms in those affected with a loss or gain of DNA material in the 16p11.2 region. Compared with typical individuals, 16p11.2 deletion carriers showed greater inconsistency in the way the brain responds to the same visual event. This high inconsistency in brain activity may play a role in some core symptoms in 16p11.2 copy number variation carriers. En ligne : http://dx.doi.org/10.1002/aur.2166 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=406 [article] Atypical neural variability in carriers of 16p11.2 copy number variants [texte imprimé] / Reem AL-JAWAHIRI, Auteur ; Myles JONES, Auteur ; Elizabeth MILNE, Auteur . - p.1322-1333. Langues : Anglais (eng) in Autism Research > 12-9 (September 2019) . - p.1322-1333 Mots-clés : alpha rhythm  cognitive neuroscience  copy number variation/copy number variants  electroencephalography  event-related potentials  gene-dosage effect  genetic/genomic syndromes Index. décimale : PER Périodiques Résumé : Copy number variations (CNVs) at the 16p11.2 chromosomal region are associated with myriad clinical features including intellectual disability and autism spectrum disorder. The aim of this study is to determine whether 16p11.2 deletion (DEL) and duplication (DUP) carriers demonstrate a distinct and reciprocal pattern of electroencephalography (EEG) activity as represented by neural variability measures. EEG data were previously collected as part of the Simons Variation in Individuals Project. Variability measures, as estimated by single-trial ERP and spectral power analyses in the alpha and beta frequency bands, in addition to signal-to-noise ratios (SNRs), were analyzed in DEL (n = 20), DUP (n = 8), and typical (n = 11) groups. We also analyzed mean visual evoked potentials and spectral power (alpha and beta power) to facilitate comparisons with other studies of associated disorders and CNVs. From measures of single-trial variability, we found higher intraparticipant variability in P1 amplitude and timecourse amplitude in DEL compared to controls. Compared to DUP, DEL showed higher variability in absolute alpha and absolute beta power but lower variability in P1 latency. SNRs did not differ between the groups. From measures of amplitude, latency, and spectral power, DUP showed lower relative alpha power compared to controls. Although it is yet unclear whether 16p11.2 CNV dosage impacts neural activity in an opposing manner, findings suggest that 16p11.2 DEL impacts the level of variability of neural responses. Higher neural variability may play a role in a range of cognitive processes in 16p11.2 CNV carriers. Autism Res 2019, 12: 1322-1333. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The study analyzed the consistency of patterns of brain waves and rhythms in those affected with a loss or gain of DNA material in the 16p11.2 region. Compared with typical individuals, 16p11.2 deletion carriers showed greater inconsistency in the way the brain responds to the same visual event. This high inconsistency in brain activity may play a role in some core symptoms in 16p11.2 copy number variation carriers. En ligne : http://dx.doi.org/10.1002/aur.2166 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=406

Sensory processing in 16p11.2 deletion and 16p11.2 duplication / Harriet SMITH in Autism Research, 15-11 (November 2022)  

Public ISBD [article]  inAutism Research > 15-11 (November 2022) . - p.2081-2098 Titre : Sensory processing in 16p11.2 deletion and 16p11.2 duplication Type de document : texte imprimé Auteurs : Harriet SMITH, Auteur ; Chloe LANE, Auteur ; Reem AL-JAWAHIRI, Auteur ; Megan FREETH, Auteur Article en page(s) : p.2081-2098 Langues : Anglais (eng) Mots-clés : Child  Humans  Chromosome Deletion  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Intellectual Disability/genetics  Perception  Chromosomes, Human, Pair 16/genetics  Chromosome Disorders/complications/genetics  Adhd  anxiety  autistic  sensory processing  sensory systems Index. décimale : PER Périodiques Résumé : Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However, whether and how sensory processing is affected has not yet been considered in detail. Parents/caregivers of 38 children with a 16p11.2 deletion and 31 children with a 16p11.2 duplication completed the Sensory Behavior Questionnaire (SBQ) and the Child Sensory Profile 2 (CSP-2) along with other standardized questionnaires assessing autistic traits (SRS-2), ADHD traits (Conners 3), anxiety (SCAS-P) and adaptive behavior (VABS-3). SBQ and CSP-2 responses found that sensory processing differences were clearly evident in both 16p11.2 deletion and 16p11.2 duplication, though there was significant variation in both cohorts. SBQ data indicated the frequency and impact of sensory behavior were more severe when compared to neurotypical children, with levels being similar to autistic children. CSP-2 data indicated over 70% of children displayed clear differences in sensory registration (missing sensory input). Seventy-one percent with 16p11.2 duplications were also unusually sensitive to sensory information and 57% with 16p11.2 duplications were unusually avoidant of sensory stimuli. This first detailed assessment of sensory processing, alongside other clinical features, in relatively large cohorts of children with a 16p11.2 deletion and 16p11.2 duplication demonstrates that sensory processing differences have a profound impact on their lives. En ligne : http://dx.doi.org/10.1002/aur.2802 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Sensory processing in 16p11.2 deletion and 16p11.2 duplication [texte imprimé] / Harriet SMITH, Auteur ; Chloe LANE, Auteur ; Reem AL-JAWAHIRI, Auteur ; Megan FREETH, Auteur . - p.2081-2098. Langues : Anglais (eng) in Autism Research > 15-11 (November 2022) . - p.2081-2098 Mots-clés : Child  Humans  Chromosome Deletion  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Intellectual Disability/genetics  Perception  Chromosomes, Human, Pair 16/genetics  Chromosome Disorders/complications/genetics  Adhd  anxiety  autistic  sensory processing  sensory systems Index. décimale : PER Périodiques Résumé : Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However, whether and how sensory processing is affected has not yet been considered in detail. Parents/caregivers of 38 children with a 16p11.2 deletion and 31 children with a 16p11.2 duplication completed the Sensory Behavior Questionnaire (SBQ) and the Child Sensory Profile 2 (CSP-2) along with other standardized questionnaires assessing autistic traits (SRS-2), ADHD traits (Conners 3), anxiety (SCAS-P) and adaptive behavior (VABS-3). SBQ and CSP-2 responses found that sensory processing differences were clearly evident in both 16p11.2 deletion and 16p11.2 duplication, though there was significant variation in both cohorts. SBQ data indicated the frequency and impact of sensory behavior were more severe when compared to neurotypical children, with levels being similar to autistic children. CSP-2 data indicated over 70% of children displayed clear differences in sensory registration (missing sensory input). Seventy-one percent with 16p11.2 duplications were also unusually sensitive to sensory information and 57% with 16p11.2 duplications were unusually avoidant of sensory stimuli. This first detailed assessment of sensory processing, alongside other clinical features, in relatively large cohorts of children with a 16p11.2 deletion and 16p11.2 duplication demonstrates that sensory processing differences have a profound impact on their lives. En ligne : http://dx.doi.org/10.1002/aur.2802 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

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