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Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude / J. J. LEBLANC in Molecular Autism, 7 (2016)
[article]
Titre : Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude Type de document : Texte imprimé et/ou numérique Auteurs : J. J. LEBLANC, Auteur ; C. A. NELSON, Auteur Article en page(s) : 30p. Langues : Anglais (eng) Mots-clés : Adolescent Child Child, Preschool Chromosomes, Human, Pair 16/genetics DNA Copy Number Variations Developmental Disabilities/diagnosis/physiopathology Electroencephalography Evoked Potentials, Visual/physiology Female Gene Deletion Gene Duplication Humans Male Visual Cortex/diagnostic imaging 16p11.2 copy number variation Visual cortex Visual evoked potential Index. décimale : PER Périodiques Résumé : BACKGROUND: Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation. METHODS: Pattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60') that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net. RESULTS: Quantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference. CONCLUSIONS: The results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder. En ligne : http://dx.doi.org/10.1186/s13229-016-0095-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328
in Molecular Autism > 7 (2016) . - 30p.[article] Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude [Texte imprimé et/ou numérique] / J. J. LEBLANC, Auteur ; C. A. NELSON, Auteur . - 30p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 30p.
Mots-clés : Adolescent Child Child, Preschool Chromosomes, Human, Pair 16/genetics DNA Copy Number Variations Developmental Disabilities/diagnosis/physiopathology Electroencephalography Evoked Potentials, Visual/physiology Female Gene Deletion Gene Duplication Humans Male Visual Cortex/diagnostic imaging 16p11.2 copy number variation Visual cortex Visual evoked potential Index. décimale : PER Périodiques Résumé : BACKGROUND: Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation. METHODS: Pattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60') that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net. RESULTS: Quantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference. CONCLUSIONS: The results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder. En ligne : http://dx.doi.org/10.1186/s13229-016-0095-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 Sensory processing in 16p11.2 deletion and 16p11.2 duplication / Harriet SMITH in Autism Research, 15-11 (November 2022)
[article]
Titre : Sensory processing in 16p11.2 deletion and 16p11.2 duplication Type de document : Texte imprimé et/ou numérique 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
in Autism Research > 15-11 (November 2022) . - p.2081-2098[article] Sensory processing in 16p11.2 deletion and 16p11.2 duplication [Texte imprimé et/ou numérique] / 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