Abnormal Brain Dynamics Underlie Speech Production in Children with Autism Spectrum Disorder / Elizabeth W. PANG in Autism Research, 9-2 (February 2016)  

Public ISBD [article]  inAutism Research > 9-2 (February 2016) . - p.249-261 Titre : Abnormal Brain Dynamics Underlie Speech Production in Children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Elizabeth W. PANG, Auteur ; Tatiana VALICA, Auteur ; Matt J. MACDONALD, Auteur ; Margot J. TAYLOR, Auteur ; Jessica BRIAN, Auteur ; Jason P. LERCH, Auteur ; Evdokia ANAGNOSTOU, Auteur Article en page(s) : p.249-261 Langues : Anglais (eng) Mots-clés : magnetoencephalography  oromotor control  phoneme production  phonemic sequencing  autism spectrum disorder Index. décimale : PER Périodiques Résumé : A large proportion of children with autism spectrum disorder (ASD) have speech and/or language difficulties. While a number of structural and functional neuroimaging methods have been used to explore the brain differences in ASD with regards to speech and language comprehension and production, the neurobiology of basic speech function in ASD has not been examined. Magnetoencephalography (MEG) is a neuroimaging modality with high spatial and temporal resolution that can be applied to the examination of brain dynamics underlying speech as it can capture the fast responses fundamental to this function. We acquired MEG from 21 children with high-functioning autism (mean age: 11.43 years) and 21 age- and sex-matched controls as they performed a simple oromotor task, a phoneme production task and a phonemic sequencing task. Results showed significant differences in activation magnitude and peak latencies in primary motor cortex (Brodmann Area 4), motor planning areas (BA 6), temporal sequencing and sensorimotor integration areas (BA 22/13) and executive control areas (BA 9). Our findings of significant functional brain differences between these two groups on these simple oromotor and phonemic tasks suggest that these deficits may be foundational and could underlie the language deficits seen in ASD. En ligne : http://dx.doi.org/10.1002/aur.1526 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 [article] Abnormal Brain Dynamics Underlie Speech Production in Children with Autism Spectrum Disorder [texte imprimé] / Elizabeth W. PANG, Auteur ; Tatiana VALICA, Auteur ; Matt J. MACDONALD, Auteur ; Margot J. TAYLOR, Auteur ; Jessica BRIAN, Auteur ; Jason P. LERCH, Auteur ; Evdokia ANAGNOSTOU, Auteur . - p.249-261. Langues : Anglais (eng) in Autism Research > 9-2 (February 2016) . - p.249-261 Mots-clés : magnetoencephalography  oromotor control  phoneme production  phonemic sequencing  autism spectrum disorder Index. décimale : PER Périodiques Résumé : A large proportion of children with autism spectrum disorder (ASD) have speech and/or language difficulties. While a number of structural and functional neuroimaging methods have been used to explore the brain differences in ASD with regards to speech and language comprehension and production, the neurobiology of basic speech function in ASD has not been examined. Magnetoencephalography (MEG) is a neuroimaging modality with high spatial and temporal resolution that can be applied to the examination of brain dynamics underlying speech as it can capture the fast responses fundamental to this function. We acquired MEG from 21 children with high-functioning autism (mean age: 11.43 years) and 21 age- and sex-matched controls as they performed a simple oromotor task, a phoneme production task and a phonemic sequencing task. Results showed significant differences in activation magnitude and peak latencies in primary motor cortex (Brodmann Area 4), motor planning areas (BA 6), temporal sequencing and sensorimotor integration areas (BA 22/13) and executive control areas (BA 9). Our findings of significant functional brain differences between these two groups on these simple oromotor and phonemic tasks suggest that these deficits may be foundational and could underlie the language deficits seen in ASD. En ligne : http://dx.doi.org/10.1002/aur.1526 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282

Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging / Jacob ELLEGOOD in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 24p. Titre : Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging Type de document : texte imprimé Auteurs : Jacob ELLEGOOD, Auteur ; Yohan YEE, Auteur ; Travis KERR, Auteur ; Christopher L. MULLER, Auteur ; Randy D. BLAKELY, Auteur ; R. Mark HENKELMAN, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Jason P. LERCH, Auteur Article en page(s) : 24p. Langues : Anglais (eng) Mots-clés : Animals  Brain/diagnostic imaging/metabolism  Female  Magnetic Resonance Imaging  Male  Mice  Mice, Inbred C57BL  Mutation  Neurons/metabolism  Serotonin/metabolism  Serotonin Plasma Membrane Transport Proteins/genetics/metabolism  5-ht  5htt  Brain  Dorsal raphe  Magnetic resonance imaging  Neurodevelopment  Serotonin  Slc6a4 Index. décimale : PER Périodiques Résumé : Background: The serotonin (5-HT) system has long been implicated in autism spectrum disorder (ASD) as indicated by elevated whole blood and platelet 5-HT, altered platelet and brain receptor and transporter binding, and genetic linkage and association findings. Based upon work in genetically modified mice, 5-HT is known to influence several aspects of brain development, but systematic neuroimaging studies have not previously been reported. In particular, the 5-HT transporter (serotonin transporter, SERT; 5-HTT) gene, Slc6a4, has been extensively studied. Methods: Using a 7-T MRI and deformation-based morphometry, we assessed neuroanatomical differences in an Slc6a4 knockout mouse on a C57BL/6 genetic background, along with an Slc6a4 Ala56 knockin mouse on two different genetic backgrounds (129S and C57BL/6). Results: Individually (same sex, same background, same genotype), the only differences found were in the female Slc6a4 knockout mouse; all the others had no significant differences. However, an analysis of variance across the whole study sample revealed a significant effect of Slc6a4 on the amygdala, thalamus, dorsal raphe nucleus, and lateral and frontal cortices. Conclusions: This work shows that an increase or decrease in SERT function has a significant effect on the neuroanatomy in 5-HT relevant regions, particularly the raphe nuclei. Notably, the Slc6a4 Ala56 knockin alone appears to have an insignificant, but suggestive, effect compared to the KO, which is consistent with Slc6a4 function. Despite the small number of 5-HT neurons and their localization to the brainstem, it is clear that 5-HT plays an important role in neuroanatomical organization. En ligne : https://dx.doi.org/10.1186/s13229-018-0210-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging [texte imprimé] / Jacob ELLEGOOD, Auteur ; Yohan YEE, Auteur ; Travis KERR, Auteur ; Christopher L. MULLER, Auteur ; Randy D. BLAKELY, Auteur ; R. Mark HENKELMAN, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Jason P. LERCH, Auteur . - 24p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 24p. Mots-clés : Animals  Brain/diagnostic imaging/metabolism  Female  Magnetic Resonance Imaging  Male  Mice  Mice, Inbred C57BL  Mutation  Neurons/metabolism  Serotonin/metabolism  Serotonin Plasma Membrane Transport Proteins/genetics/metabolism  5-ht  5htt  Brain  Dorsal raphe  Magnetic resonance imaging  Neurodevelopment  Serotonin  Slc6a4 Index. décimale : PER Périodiques Résumé : Background: The serotonin (5-HT) system has long been implicated in autism spectrum disorder (ASD) as indicated by elevated whole blood and platelet 5-HT, altered platelet and brain receptor and transporter binding, and genetic linkage and association findings. Based upon work in genetically modified mice, 5-HT is known to influence several aspects of brain development, but systematic neuroimaging studies have not previously been reported. In particular, the 5-HT transporter (serotonin transporter, SERT; 5-HTT) gene, Slc6a4, has been extensively studied. Methods: Using a 7-T MRI and deformation-based morphometry, we assessed neuroanatomical differences in an Slc6a4 knockout mouse on a C57BL/6 genetic background, along with an Slc6a4 Ala56 knockin mouse on two different genetic backgrounds (129S and C57BL/6). Results: Individually (same sex, same background, same genotype), the only differences found were in the female Slc6a4 knockout mouse; all the others had no significant differences. However, an analysis of variance across the whole study sample revealed a significant effect of Slc6a4 on the amygdala, thalamus, dorsal raphe nucleus, and lateral and frontal cortices. Conclusions: This work shows that an increase or decrease in SERT function has a significant effect on the neuroanatomy in 5-HT relevant regions, particularly the raphe nuclei. Notably, the Slc6a4 Ala56 knockin alone appears to have an insignificant, but suggestive, effect compared to the KO, which is consistent with Slc6a4 function. Despite the small number of 5-HT neurons and their localization to the brainstem, it is clear that 5-HT plays an important role in neuroanatomical organization. En ligne : https://dx.doi.org/10.1186/s13229-018-0210-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

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 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] / 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

Brain abnormalities in a Neuroligin3 R451C knockin mouse model associated with autism / Jacob ELLEGOOD in Autism Research, 4-5 (October 2011)  

Public ISBD [article]  inAutism Research > 4-5 (October 2011) . - p.368-376 Titre : Brain abnormalities in a Neuroligin3 R451C knockin mouse model associated with autism Type de document : texte imprimé Auteurs : Jacob ELLEGOOD, Auteur ; Jason P. LERCH, Auteur ; R. Mark HENKELMAN, Auteur Année de publication : 2011 Article en page(s) : p.368-376 Langues : Anglais (eng) Mots-clés : animal models  magnetic resonance imaging  diffusion tensor imaging  neuroligin3  volume assessment Index. décimale : PER Périodiques Résumé : Magnetic resonance imaging (MRI) has been used quite extensively for examining morphological changes in human and animal brains. One of the many advantages to examining mouse models of human autism is that we are able to examine single gene targets, like that of Neuroligin3 R451C knockin (NL3 KI), which has been directly implicated in human autism. The NL3 KI mouse model has marked volume differences in many different structures in the brain: gray matter structures, such as the hippocampus, the striatum, and the thalamus, were all found to be smaller in the NL3 KI. Further, many white matter structures were found to be significantly smaller, such as the cerebral peduncle, corpus callosum, fornix/fimbria, and internal capsule. Fractional anisotropy measurements in these structures were also measured, and no differences were found. The volume changes in the white matter regions, therefore, are not due to a general breakdown in the microstructure of the tissue and seem to be caused by fewer axons or less mature axons. A larger radial diffusivity was also found in localized regions of the corpus callosum and cerebellum. The corpus callosal changes are particularly interesting as the thinning (or reduced volume) of the corpus callosum is a consistent finding in autism. This suggests that the NL3 KI model may be useful for examining white matter changes associated with autism. Autism Res2011,4:368–376. © 2011 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.215 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=145 [article] Brain abnormalities in a Neuroligin3 R451C knockin mouse model associated with autism [texte imprimé] / Jacob ELLEGOOD, Auteur ; Jason P. LERCH, Auteur ; R. Mark HENKELMAN, Auteur . - 2011 . - p.368-376. Langues : Anglais (eng) in Autism Research > 4-5 (October 2011) . - p.368-376 Mots-clés : animal models  magnetic resonance imaging  diffusion tensor imaging  neuroligin3  volume assessment Index. décimale : PER Périodiques Résumé : Magnetic resonance imaging (MRI) has been used quite extensively for examining morphological changes in human and animal brains. One of the many advantages to examining mouse models of human autism is that we are able to examine single gene targets, like that of Neuroligin3 R451C knockin (NL3 KI), which has been directly implicated in human autism. The NL3 KI mouse model has marked volume differences in many different structures in the brain: gray matter structures, such as the hippocampus, the striatum, and the thalamus, were all found to be smaller in the NL3 KI. Further, many white matter structures were found to be significantly smaller, such as the cerebral peduncle, corpus callosum, fornix/fimbria, and internal capsule. Fractional anisotropy measurements in these structures were also measured, and no differences were found. The volume changes in the white matter regions, therefore, are not due to a general breakdown in the microstructure of the tissue and seem to be caused by fewer axons or less mature axons. A larger radial diffusivity was also found in localized regions of the corpus callosum and cerebellum. The corpus callosal changes are particularly interesting as the thinning (or reduced volume) of the corpus callosum is a consistent finding in autism. This suggests that the NL3 KI model may be useful for examining white matter changes associated with autism. Autism Res2011,4:368–376. © 2011 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.215 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=145

Cerebellar gamma-aminobutyric acid: Investigation of group effects in neurodevelopmental disorders / Elizabeth W. PANG in Autism Research, 16-3 (March 2023)  

Public ISBD [article]  inAutism Research > 16-3 (March 2023) . - p.535-542 Titre : Cerebellar gamma-aminobutyric acid: Investigation of group effects in neurodevelopmental disorders Type de document : texte imprimé Auteurs : Elizabeth W. PANG, Auteur ; Christopher HAMMILL, Auteur ; Margot J. TAYLOR, Auteur ; Jamie NEAR, Auteur ; Russell SCHACHAR, Auteur ; Jennifer CROSBIE, Auteur ; Paul D. ARNOLD, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jason P. LERCH, Auteur Article en page(s) : p.535-542 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Neurodevelopmental disorders (NDDs) including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) are thought to arise in part from the disruption in the excitatory/inhibitory balance of gamma-aminobutyric acid (GABA) and glutamate in the brain. Recent evidence has shown the involvement of the cerebellum in cognition and affect regulation, and cerebellar atypical function or damage is reported frequently in NDDs. Magnetic resonance spectroscopy studies have reported decreases in GABA in cortical brain areas in the NDDs, however, GABA levels in the cerebellum have not been examined. To determine possible group effects, we used a MEGA-PRESS acquisition to investigate GABA+ levels in a cerebellar voxel in 343 individuals (aged 2.5-22 years) with ASD, ADHD, OCD and controls. Using a mixed effects model, we found no significant differences between groups in GABA+ concentration. Our findings suggest that cerebellar GABA+ levels do not differentiate NDD groups. En ligne : https://doi.org/10.1002/aur.2888 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=498 [article] Cerebellar gamma-aminobutyric acid: Investigation of group effects in neurodevelopmental disorders [texte imprimé] / Elizabeth W. PANG, Auteur ; Christopher HAMMILL, Auteur ; Margot J. TAYLOR, Auteur ; Jamie NEAR, Auteur ; Russell SCHACHAR, Auteur ; Jennifer CROSBIE, Auteur ; Paul D. ARNOLD, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jason P. LERCH, Auteur . - p.535-542. Langues : Anglais (eng) in Autism Research > 16-3 (March 2023) . - p.535-542 Index. décimale : PER Périodiques Résumé : Abstract Neurodevelopmental disorders (NDDs) including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) are thought to arise in part from the disruption in the excitatory/inhibitory balance of gamma-aminobutyric acid (GABA) and glutamate in the brain. Recent evidence has shown the involvement of the cerebellum in cognition and affect regulation, and cerebellar atypical function or damage is reported frequently in NDDs. Magnetic resonance spectroscopy studies have reported decreases in GABA in cortical brain areas in the NDDs, however, GABA levels in the cerebellum have not been examined. To determine possible group effects, we used a MEGA-PRESS acquisition to investigate GABA+ levels in a cerebellar voxel in 343 individuals (aged 2.5-22 years) with ASD, ADHD, OCD and controls. Using a mixed effects model, we found no significant differences between groups in GABA+ concentration. Our findings suggest that cerebellar GABA+ levels do not differentiate NDD groups. En ligne : https://doi.org/10.1002/aur.2888 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=498

Childhood onset schizophrenia: cortical brain abnormalities as young adults / Deanna GREENSTEIN in Journal of Child Psychology and Psychiatry, 47-10 (October 2006)  

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Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder / Elizabeth L. BERG in Autism Research, 11-4 (April 2018)  

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Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development / Shaun HURLEY in Molecular Autism, 12 (2021)  

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Effects of age and symptomatology on cortical thickness in autism spectrum disorders / Krissy DOYLE-THOMAS in Research in Autism Spectrum Disorders, 7-1 (January 2013)  

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Gender diversity is correlated with dimensional neurodivergent traits but not categorical neurodevelopmental diagnoses in children / Evdokia ANAGNOSTOU ; Jason P. LERCH ; Margot J. TAYLOR ; Doug P. VANDERLAAN ; Peter SZATMARI ; Jennifer CROSBIE ; Robert NICOLSON ; Stelios GEORGIADIS ; Elizabeth KELLEY ; Muhammad AYUB ; Jessica BRIAN ; Meng-Chuan LAI ; Mark R. PALMERT in Journal of Child Psychology and Psychiatry, 65-9 (September 2024)  

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Genetic Effects on Cerebellar Structure Across Mouse Models of Autism Using a Magnetic Resonance Imaging Atlas / Patrick E. STEADMAN in Autism Research, 7-1 (February 2014)  

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Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities / Stephania ASSIMOPOULOS in Autism Research, 15-7 (July 2022)  

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Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice / Tzyy-Nan HUANG in Molecular Autism, 10 (2019)  

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Harmonizing two measures of adaptive functioning using computational approaches: prediction of vineland adaptive behavior scales II (VABS-II) from the adaptive behavior assessment system II (ABAS-II) scores / Alexandra LAUTARESCU ; Tony CHARMAN ; Jennifer CROSBIE ; Russell SCHACHAR ; Alana IABONI ; Stelios GEORGIADES ; Robert NICOLSON ; Elizabeth KELLEY ; Muhammad AYUB ; Jessica JONES ; Paul D. ARNOLD ; Jason P. LERCH ; Evdokia ANAGNOSTOU ; Azadeh KUSHKI in Molecular Autism, 15 (2024)  

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Magnetic Resonance Imaging as a Tool for the Study of Mouse Models of Autism / Jacob ELLEGOOD in Autism - Open Access, 2-S ([01/12/2012])  

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