12 recherche sur le mot-clé 'Autistic Disorder/genetics'

Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees / A. WEISS in Autism Research, 14-9 (September 2021)  

Public ISBD [article]  inAutism Research > 14-9 (September 2021) . - p.1843-1853 Titre : Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees Type de document : Texte imprimé et/ou numérique Auteurs : A. WEISS, Auteur ; Vanessa A. D. WILSON, Auteur ; W. D. HOPKINS, Auteur Article en page(s) : p.1843-1853 Langues : Anglais (eng) Mots-clés : Animals  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Genotype  Pan troglodytes/genetics  Receptors, Vasopressin/genetics  Social Behavior  Avpr1a  autism  development  mother  primate  vasopressin Index. décimale : PER Périodiques Résumé : Previous studies found associations between autism-related phenotypes and both rearing and V1A arginine vasopressin receptor (AVPR1A) genotypes. We tested whether these exposures as well as their interaction were associated with autism-related phenotypes in 121 laboratory-housed chimpanzees. We used expert-derived weights to obtain autism scores from ratings on the 43-item Chimpanzee Personality Questionnaire; higher scores indicated more autistic-like traits. The first model included fixed effects for sex, age, and rearing, and a random effect that addressed the relatedness of subjects. The second model was the same except that it also included the rearing × AVPR1A genotype interaction as a fixed effect. Both models indicated that the phenotype was moderately heritable and that chimpanzees reared by their mothers had lower scores on the scale. The effect of genotype in both models indicated that chimpanzees with an indel deletion had higher scores on the scale, although the credible interval included zero. Moreover, the rearing × genotype interaction in the second model indicated that chimpanzees who possessed the non-deletion genotype and who were reared by their mother were at even greater risk. The credible interval for this effect did not include zero, but fit statistics indicated that the model without the interaction was marginally better, and the interaction was in the opposite direction than we expected based on previous work. These findings highlight the importance of rearing effects in the typical social development of our closet-living nonhuman relative. LAY SUMMARY: We tested whether, in chimpanzees, scores on a scale comprising traits that resembled aspects of autism were related to a gene associated with autism in prior research and/or early rearing. Human-reared chimpanzees had higher scores (indicating more autistic-like traits). Chimpanzees that possessed the gene also had higher scores, but we could not exclude the possibility that there was no effect of genotype. These findings suggest that we can measure autism-like characteristics in chimpanzees, and so study it in this species. En ligne : http://dx.doi.org/10.1002/aur.2550 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees [Texte imprimé et/ou numérique] / A. WEISS, Auteur ; Vanessa A. D. WILSON, Auteur ; W. D. HOPKINS, Auteur . - p.1843-1853. Langues : Anglais (eng) in Autism Research > 14-9 (September 2021) . - p.1843-1853 Mots-clés : Animals  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Genotype  Pan troglodytes/genetics  Receptors, Vasopressin/genetics  Social Behavior  Avpr1a  autism  development  mother  primate  vasopressin Index. décimale : PER Périodiques Résumé : Previous studies found associations between autism-related phenotypes and both rearing and V1A arginine vasopressin receptor (AVPR1A) genotypes. We tested whether these exposures as well as their interaction were associated with autism-related phenotypes in 121 laboratory-housed chimpanzees. We used expert-derived weights to obtain autism scores from ratings on the 43-item Chimpanzee Personality Questionnaire; higher scores indicated more autistic-like traits. The first model included fixed effects for sex, age, and rearing, and a random effect that addressed the relatedness of subjects. The second model was the same except that it also included the rearing × AVPR1A genotype interaction as a fixed effect. Both models indicated that the phenotype was moderately heritable and that chimpanzees reared by their mothers had lower scores on the scale. The effect of genotype in both models indicated that chimpanzees with an indel deletion had higher scores on the scale, although the credible interval included zero. Moreover, the rearing × genotype interaction in the second model indicated that chimpanzees who possessed the non-deletion genotype and who were reared by their mother were at even greater risk. The credible interval for this effect did not include zero, but fit statistics indicated that the model without the interaction was marginally better, and the interaction was in the opposite direction than we expected based on previous work. These findings highlight the importance of rearing effects in the typical social development of our closet-living nonhuman relative. LAY SUMMARY: We tested whether, in chimpanzees, scores on a scale comprising traits that resembled aspects of autism were related to a gene associated with autism in prior research and/or early rearing. Human-reared chimpanzees had higher scores (indicating more autistic-like traits). Chimpanzees that possessed the gene also had higher scores, but we could not exclude the possibility that there was no effect of genotype. These findings suggest that we can measure autism-like characteristics in chimpanzees, and so study it in this species. En ligne : http://dx.doi.org/10.1002/aur.2550 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Eating Problems in Autistic Females and Males: A Co-twin Control Study / K. LUNDIN REMNÉLIUS in Journal of Autism and Developmental Disorders, 52-7 (July 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3153-3168 Titre : Eating Problems in Autistic Females and Males: A Co-twin Control Study Type de document : Texte imprimé et/ou numérique Auteurs : K. LUNDIN REMNÉLIUS, Auteur ; Janina NEUFELD, Auteur ; Johan ISAKSSON, Auteur ; Sven BÖLTE, Auteur Article en page(s) : p.3153-3168 Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Diseases in Twins/genetics  Female  Humans  Male  Twins, Dizygotic  Twins, Monozygotic  Autism  Co-twin control design  Eating  Gender differences  lecturer for Medice and Roche. He receives royalties for textbooks and diagnostic  tools from Hogrefe. KLR, JN, and JI have no conflicts of interest to declare that  are relevant to the content of this article. Index. décimale : PER Périodiques Résumé : This study investigated the association between autism and self-reported eating problems and the influence of gender on the association, in a sample of adolescent and adult twins (N=192). Autistic traits and autism diagnosis were associated with both total and specific eating problems, including selective eating and sensory sensitivity during mealtimes. Interaction effects indicated a stronger association between autistic traits and total eating problems in females, as well as more difficulties with eating in social contexts among autistic females. In within-pair analyses, where unmeasured confounders including genes and shared environment are implicitly controlled for, the association was lost within monozygotic pairs, which might further indicate a genetic influence on the relationship between autism and eating problems. En ligne : http://dx.doi.org/10.1007/s10803-021-05198-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477 [article] Eating Problems in Autistic Females and Males: A Co-twin Control Study [Texte imprimé et/ou numérique] / K. LUNDIN REMNÉLIUS, Auteur ; Janina NEUFELD, Auteur ; Johan ISAKSSON, Auteur ; Sven BÖLTE, Auteur . - p.3153-3168. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3153-3168 Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Diseases in Twins/genetics  Female  Humans  Male  Twins, Dizygotic  Twins, Monozygotic  Autism  Co-twin control design  Eating  Gender differences  lecturer for Medice and Roche. He receives royalties for textbooks and diagnostic  tools from Hogrefe. KLR, JN, and JI have no conflicts of interest to declare that  are relevant to the content of this article. Index. décimale : PER Périodiques Résumé : This study investigated the association between autism and self-reported eating problems and the influence of gender on the association, in a sample of adolescent and adult twins (N=192). Autistic traits and autism diagnosis were associated with both total and specific eating problems, including selective eating and sensory sensitivity during mealtimes. Interaction effects indicated a stronger association between autistic traits and total eating problems in females, as well as more difficulties with eating in social contexts among autistic females. In within-pair analyses, where unmeasured confounders including genes and shared environment are implicitly controlled for, the association was lost within monozygotic pairs, which might further indicate a genetic influence on the relationship between autism and eating problems. En ligne : http://dx.doi.org/10.1007/s10803-021-05198-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477

Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients / Yanyan QIAN in Journal of Autism and Developmental Disorders, 52-11 (November 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.5033-5041 Titre : Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients Type de document : Texte imprimé et/ou numérique Auteurs : Yanyan QIAN, Auteur ; Yuanfeng ZHOU, Auteur ; Bingbing WU, Auteur ; Huiyao CHEN, Auteur ; Suzhen XU, Auteur ; Yao WANG, Auteur ; Ping ZHANG, Auteur ; Gang LI, Auteur ; Qiong XU, Auteur ; Wenhao ZHOU, Auteur ; Xiu XU, Auteur ; Huijun WANG, Auteur Article en page(s) : p.5033-5041 Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple  Autism Spectrum Disorder  Autistic Disorder/genetics  China  Chromatin  DNA Helicases/genetics  Face/abnormalities  Hand Deformities, Congenital  Humans  Intellectual Disability/genetics  Micrognathism  Neck/abnormalities  Nuclear Proteins/genetics  Transcription Factors/genetics  Autism spectrum disorder  Coffin-Siris syndrome  Neurodevelopmental-related disorders  Phenotype  Smarca4 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing. En ligne : http://dx.doi.org/10.1007/s10803-021-05365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489 [article] Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients [Texte imprimé et/ou numérique] / Yanyan QIAN, Auteur ; Yuanfeng ZHOU, Auteur ; Bingbing WU, Auteur ; Huiyao CHEN, Auteur ; Suzhen XU, Auteur ; Yao WANG, Auteur ; Ping ZHANG, Auteur ; Gang LI, Auteur ; Qiong XU, Auteur ; Wenhao ZHOU, Auteur ; Xiu XU, Auteur ; Huijun WANG, Auteur . - p.5033-5041. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.5033-5041 Mots-clés : Abnormalities, Multiple  Autism Spectrum Disorder  Autistic Disorder/genetics  China  Chromatin  DNA Helicases/genetics  Face/abnormalities  Hand Deformities, Congenital  Humans  Intellectual Disability/genetics  Micrognathism  Neck/abnormalities  Nuclear Proteins/genetics  Transcription Factors/genetics  Autism spectrum disorder  Coffin-Siris syndrome  Neurodevelopmental-related disorders  Phenotype  Smarca4 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing. En ligne : http://dx.doi.org/10.1007/s10803-021-05365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489

Right Anterior Theta Hypersynchrony as a Quantitative Measure Associated with Autistic Traits and K-Cl Cotransporter KCC2 Polymorphism / S. AYKAN in Journal of Autism and Developmental Disorders, 52-1 (January 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.61-72 Titre : Right Anterior Theta Hypersynchrony as a Quantitative Measure Associated with Autistic Traits and K-Cl Cotransporter KCC2 Polymorphism Type de document : Texte imprimé et/ou numérique Auteurs : S. AYKAN, Auteur ; M. H. PUGLIA, Auteur ; C. KALAYCIO?LU, Auteur ; Kevin A. PELPHREY, Auteur ; T. TUNCALI, Auteur ; E. NALÇACI, Auteur Article en page(s) : p.61-72 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Electroencephalography  Humans  Solute Carrier Family 12, Member 2  Symporters/genetics  Autistic traits  Coherence  Excitation/inhibition imbalance  Kcc2  Quantitative traits  Theta oscillations Index. décimale : PER Périodiques Résumé : Our aim was to use theta coherence as a quantitative trait to investigate the relation of the polymorphisms in NKCC1 (rs3087889) and KCC2 (rs9074) channel protein genes to autistic traits (AQ) in neurotypicals. Coherence values for candidate connection regions were calculated from eyes-closed resting EEGs in two independent groups. Hypersynchrony within the right anterior region was related to AQ in both groups (p? En ligne : http://dx.doi.org/10.1007/s10803-021-04924-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 [article] Right Anterior Theta Hypersynchrony as a Quantitative Measure Associated with Autistic Traits and K-Cl Cotransporter KCC2 Polymorphism [Texte imprimé et/ou numérique] / S. AYKAN, Auteur ; M. H. PUGLIA, Auteur ; C. KALAYCIO?LU, Auteur ; Kevin A. PELPHREY, Auteur ; T. TUNCALI, Auteur ; E. NALÇACI, Auteur . - p.61-72. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.61-72 Mots-clés : Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Electroencephalography  Humans  Solute Carrier Family 12, Member 2  Symporters/genetics  Autistic traits  Coherence  Excitation/inhibition imbalance  Kcc2  Quantitative traits  Theta oscillations Index. décimale : PER Périodiques Résumé : Our aim was to use theta coherence as a quantitative trait to investigate the relation of the polymorphisms in NKCC1 (rs3087889) and KCC2 (rs9074) channel protein genes to autistic traits (AQ) in neurotypicals. Coherence values for candidate connection regions were calculated from eyes-closed resting EEGs in two independent groups. Hypersynchrony within the right anterior region was related to AQ in both groups (p? En ligne : http://dx.doi.org/10.1007/s10803-021-04924-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454

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 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 [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

Autism severity aggregates with family psychiatric history in a community-based autism sample / D. SIPSOCK in Autism Research, 14-12 (December 2021)  

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Early life sleep disruption potentiates lasting sex-specific changes in behavior in genetically vulnerable Shank3 heterozygous autism model mice / Julia S. LORD in Molecular Autism, 13 (2022)  

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Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism / Diana SCHENDEL in Autism Research, 15-1 (January 2022)  

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Intestinal Predictors of Whole Blood Serotonin Levels in Children With or Without Autism / Miranda ZUNIGA-KENNEDY in Journal of Autism and Developmental Disorders, 52-9 (September 2022)  

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The impact of atypical sensory processing on adaptive functioning within and beyond autism: The role of familial factors / J. NEUFELD in Autism, 25-8 (November 2021)  

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