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

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice / Stijn VAN DE SOMPELE ; Clemence LIGNEUL ; Camille CHATELAIN ; Christophe BARREA ; Jason P LERCH ; Beatrice M FILIPPI ; Serpil ALKAN ; Elfride DE BAERE ; Jamie JOHNSTON ; Steven J CLAPCOTE in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 14 Titre : Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice Type de document : Texte imprimé et/ou numérique Auteurs : Stijn VAN DE SOMPELE, Auteur ; Clemence LIGNEUL, Auteur ; Camille CHATELAIN, Auteur ; Christophe BARREA, Auteur ; Jason P LERCH, Auteur ; Beatrice M FILIPPI, Auteur ; Serpil ALKAN, Auteur ; Elfride DE BAERE, Auteur ; Jamie JOHNSTON, Auteur ; Steven J CLAPCOTE, Auteur Article en page(s) : 14 Langues : Anglais (eng) Mots-clés : Animals  Humans  Male  Female  Mice  Autistic Disorder/genetics  Alleles  Intellectual Disability/genetics  Pedigree  Autism Spectrum Disorder/genetics  Child  Phenotype  Behavior, Animal  Membrane Proteins/genetics  Social Behavior  Mutation  Adult  Child, Preschool  DNA-Binding Proteins  Autism spectrum disorder  Intellectual disability  Olfactory behavior  Pdzd8  Social discrimination  approved by Ghent University Ethical Committee. The affected individuals were  recruited to the study with the informed consent of their mother using a process  that adhered to the tenets of the Declaration of Helsinki. The mouse experiments  were conducted in compliance with the UK Animals (Scientific Procedures) Act 1986  under UK Home Office licences and approved by the Animal Welfare and Ethical  Review Body at the University of Leeds. Consent for publication: Written consent  for publication of case reports and images pertaining to the affected individuals  was obtained from their mother. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine whether autistic behavior is a common outcome of PDZD8 disruption, we studied a third family with biallelic mutation of PDZD8 (family C) and further characterized PDZD8-deficient (Pdzd8(tm1b)) mice that exhibit stereotyped motor behavior relevant to ASD. METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analysis were used to identify the PDZD8 variant responsible for IDDADF, including diagnoses of ASD, in consanguineous family C. To assess the in vivo effect of PDZD8 disruption on social responses and related phenotypes, behavioral, structural magnetic resonance imaging, and microscopy analyses were conducted on the Pdzd8(tm1b) mouse line. Metabolic activity was profiled using sealed metabolic cages. RESULTS: The discovery of a third family with IDDADF caused by biallelic disruption of PDZD8 permitted identification of a core clinical phenotype consisting of developmental delay, ID, autism, and facial dysmorphism. In addition to impairments in social recognition and social odor discrimination, Pdzd8(tm1b) mice exhibit increases in locomotor activity (dark phase only) and metabolic rate (both lights-on and dark phases), and decreased plasma triglyceride in males. In the brain, Pdzd8(tm1b) mice exhibit increased levels of accessory olfactory bulb volume, primary olfactory cortex volume, dendritic spine density, and ER stress- and mitochondrial fusion-related transcripts, as well as decreased levels of cerebellar nuclei volume and adult neurogenesis. LIMITATIONS: The total number of known cases of PDZD8-related IDDADF remains low. Some mouse experiments in the study did not use balanced numbers of males and females. The assessment of ER stress and mitochondrial fusion markers did not extend beyond mRNA levels. CONCLUSIONS: Our finding that the Pdzd8(tm1b) mouse model and all six known cases of IDDADF exhibit autistic behavior, with ASD diagnosed in five cases, identifies this trait as a common outcome of biallelic disruption of PDZD8 in humans and mice. Other abnormalities exhibited by Pdzd8(tm1b) mice suggest that the range of comorbidities associated with PDZD8 deficiency may be wider than presently recognized. En ligne : https://dx.doi.org/10.1186/s13229-025-00650-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice [Texte imprimé et/ou numérique] / Stijn VAN DE SOMPELE, Auteur ; Clemence LIGNEUL, Auteur ; Camille CHATELAIN, Auteur ; Christophe BARREA, Auteur ; Jason P LERCH, Auteur ; Beatrice M FILIPPI, Auteur ; Serpil ALKAN, Auteur ; Elfride DE BAERE, Auteur ; Jamie JOHNSTON, Auteur ; Steven J CLAPCOTE, Auteur . - 14. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 14 Mots-clés : Animals  Humans  Male  Female  Mice  Autistic Disorder/genetics  Alleles  Intellectual Disability/genetics  Pedigree  Autism Spectrum Disorder/genetics  Child  Phenotype  Behavior, Animal  Membrane Proteins/genetics  Social Behavior  Mutation  Adult  Child, Preschool  DNA-Binding Proteins  Autism spectrum disorder  Intellectual disability  Olfactory behavior  Pdzd8  Social discrimination  approved by Ghent University Ethical Committee. The affected individuals were  recruited to the study with the informed consent of their mother using a process  that adhered to the tenets of the Declaration of Helsinki. The mouse experiments  were conducted in compliance with the UK Animals (Scientific Procedures) Act 1986  under UK Home Office licences and approved by the Animal Welfare and Ethical  Review Body at the University of Leeds. Consent for publication: Written consent  for publication of case reports and images pertaining to the affected individuals  was obtained from their mother. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine whether autistic behavior is a common outcome of PDZD8 disruption, we studied a third family with biallelic mutation of PDZD8 (family C) and further characterized PDZD8-deficient (Pdzd8(tm1b)) mice that exhibit stereotyped motor behavior relevant to ASD. METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analysis were used to identify the PDZD8 variant responsible for IDDADF, including diagnoses of ASD, in consanguineous family C. To assess the in vivo effect of PDZD8 disruption on social responses and related phenotypes, behavioral, structural magnetic resonance imaging, and microscopy analyses were conducted on the Pdzd8(tm1b) mouse line. Metabolic activity was profiled using sealed metabolic cages. RESULTS: The discovery of a third family with IDDADF caused by biallelic disruption of PDZD8 permitted identification of a core clinical phenotype consisting of developmental delay, ID, autism, and facial dysmorphism. In addition to impairments in social recognition and social odor discrimination, Pdzd8(tm1b) mice exhibit increases in locomotor activity (dark phase only) and metabolic rate (both lights-on and dark phases), and decreased plasma triglyceride in males. In the brain, Pdzd8(tm1b) mice exhibit increased levels of accessory olfactory bulb volume, primary olfactory cortex volume, dendritic spine density, and ER stress- and mitochondrial fusion-related transcripts, as well as decreased levels of cerebellar nuclei volume and adult neurogenesis. LIMITATIONS: The total number of known cases of PDZD8-related IDDADF remains low. Some mouse experiments in the study did not use balanced numbers of males and females. The assessment of ER stress and mitochondrial fusion markers did not extend beyond mRNA levels. CONCLUSIONS: Our finding that the Pdzd8(tm1b) mouse model and all six known cases of IDDADF exhibit autistic behavior, with ASD diagnosed in five cases, identifies this trait as a common outcome of biallelic disruption of PDZD8 in humans and mice. Other abnormalities exhibited by Pdzd8(tm1b) mice suggest that the range of comorbidities associated with PDZD8 deficiency may be wider than presently recognized. En ligne : https://dx.doi.org/10.1186/s13229-025-00650-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

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)  

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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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Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs / Feipeng ZHU in Molecular Autism, 15 (2024)  

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