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An Association Study of Gamma-Aminobutyric Acid Type A Receptor Variants and Susceptibility to Autism Spectrum Disorders / P. ADAK in Journal of Autism and Developmental Disorders, 51-11 (November 2021)
[article]
Titre : An Association Study of Gamma-Aminobutyric Acid Type A Receptor Variants and Susceptibility to Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : P. ADAK, Auteur ; S. SINHA, Auteur ; N. BANERJEE, Auteur Article en page(s) : p.4043-4053 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics Humans Pilot Projects Polymorphism, Single Nucleotide Receptors, GABA Receptors, GABA-A/genetics gamma-Aminobutyric Acid Autism spectrum disorders Cars Children Gabra5 Gabrb3 Gabrg3 Mdr Index. décimale : PER Périodiques Résumé : In this pilot study, we aim to identify the role of few genetic variants of GABA-receptor type A subunits GABRB3 (rs4906902, rs7171660), GABRG3 (rs208129, rs140679), GABRA5 (rs 140681) in the aetiology of autism spectrum disorders in a population of West Bengal. 192 ASD probands, their parents and 184 ethnically-matched healthy controls were recruited for the study. The rs4906902G and the rs140679T conferred significant risk towards ASD. rs7171660 and rs140679 had transmission bias in the family. Neither alleles of rs 208129 and rs 140681 showed significant over-representation in either groups. All these variants were associated with at least one deficit in ASD-associated phenotypes like 'relating to people', 'Imitation', 'emotional response', 'body use', 'taste, smell, touch response' and 'activity levels'. En ligne : http://dx.doi.org/10.1007/s10803-020-04865-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 51-11 (November 2021) . - p.4043-4053[article] An Association Study of Gamma-Aminobutyric Acid Type A Receptor Variants and Susceptibility to Autism Spectrum Disorders [Texte imprimé et/ou numérique] / P. ADAK, Auteur ; S. SINHA, Auteur ; N. BANERJEE, Auteur . - p.4043-4053.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-11 (November 2021) . - p.4043-4053
Mots-clés : Autism Spectrum Disorder/genetics Humans Pilot Projects Polymorphism, Single Nucleotide Receptors, GABA Receptors, GABA-A/genetics gamma-Aminobutyric Acid Autism spectrum disorders Cars Children Gabra5 Gabrb3 Gabrg3 Mdr Index. décimale : PER Périodiques Résumé : In this pilot study, we aim to identify the role of few genetic variants of GABA-receptor type A subunits GABRB3 (rs4906902, rs7171660), GABRG3 (rs208129, rs140679), GABRA5 (rs 140681) in the aetiology of autism spectrum disorders in a population of West Bengal. 192 ASD probands, their parents and 184 ethnically-matched healthy controls were recruited for the study. The rs4906902G and the rs140679T conferred significant risk towards ASD. rs7171660 and rs140679 had transmission bias in the family. Neither alleles of rs 208129 and rs 140681 showed significant over-representation in either groups. All these variants were associated with at least one deficit in ASD-associated phenotypes like 'relating to people', 'Imitation', 'emotional response', 'body use', 'taste, smell, touch response' and 'activity levels'. En ligne : http://dx.doi.org/10.1007/s10803-020-04865-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels / A. CARVALHO PEREIRA in Journal of Autism and Developmental Disorders, 48-5 (May 2018)
[article]
Titre : Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels Type de document : Texte imprimé et/ou numérique Auteurs : A. CARVALHO PEREIRA, Auteur ; I. R. VIOLANTE, Auteur ; S. MOUGA, Auteur ; G. OLIVEIRA, Auteur ; Miguel CASTELO-BRANCO, Auteur Article en page(s) : p.1467-1482 Langues : Anglais (eng) Mots-clés : Autism diagnostic interview-revised Autism spectrum disorder Creatine Gamma-aminobutyric acid Glutamate + glutamine N-acetylaspartate Index. décimale : PER Périodiques Résumé : The nature of neurochemical changes in autism spectrum disorder (ASD) remains controversial. We compared medial prefrontal cortex (mPFC) neurochemistry of twenty high-functioning children and adolescents with ASD without associated comorbidities and fourteen controls. We observed reduced total N-acetylaspartate (tNAA) and total creatine, increased Glx/tNAA but unchanged glutamate + glutamine (Glx) and unchanged absolute or relative gamma-aminobutyric acid (GABA+) in the ASD group. Importantly, both smaller absolute and relative GABA+ levels were associated with worse communication skills and developmental delay scores assessed by the autism diagnostic interview-revised (ADI-R). We conclude that tNAA is reduced in the mPFC in ASD and that glutamatergic metabolism may be altered due to unbalanced Glx/tNAA. Moreover, GABA+ is related to autistic symptoms assessed by the ADI-R. En ligne : http://dx.doi.org/10.1007/s10803-017-3406-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355
in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1467-1482[article] Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels [Texte imprimé et/ou numérique] / A. CARVALHO PEREIRA, Auteur ; I. R. VIOLANTE, Auteur ; S. MOUGA, Auteur ; G. OLIVEIRA, Auteur ; Miguel CASTELO-BRANCO, Auteur . - p.1467-1482.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1467-1482
Mots-clés : Autism diagnostic interview-revised Autism spectrum disorder Creatine Gamma-aminobutyric acid Glutamate + glutamine N-acetylaspartate Index. décimale : PER Périodiques Résumé : The nature of neurochemical changes in autism spectrum disorder (ASD) remains controversial. We compared medial prefrontal cortex (mPFC) neurochemistry of twenty high-functioning children and adolescents with ASD without associated comorbidities and fourteen controls. We observed reduced total N-acetylaspartate (tNAA) and total creatine, increased Glx/tNAA but unchanged glutamate + glutamine (Glx) and unchanged absolute or relative gamma-aminobutyric acid (GABA+) in the ASD group. Importantly, both smaller absolute and relative GABA+ levels were associated with worse communication skills and developmental delay scores assessed by the autism diagnostic interview-revised (ADI-R). We conclude that tNAA is reduced in the mPFC in ASD and that glutamatergic metabolism may be altered due to unbalanced Glx/tNAA. Moreover, GABA+ is related to autistic symptoms assessed by the ADI-R. En ligne : http://dx.doi.org/10.1007/s10803-017-3406-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355 Region-specific associations between gamma-aminobutyric acid A receptor binding and cortical thickness in high-functioning autistic adults / David JAMES in Autism Research, 15-6 (June 2022)
[article]
Titre : Region-specific associations between gamma-aminobutyric acid A receptor binding and cortical thickness in high-functioning autistic adults Type de document : Texte imprimé et/ou numérique Auteurs : David JAMES, Auteur ; Vicky T. LAM, Auteur ; Booil JO, Auteur ; Lawrence K. FUNG, Auteur Article en page(s) : p.1068-1082 Langues : Anglais (eng) Mots-clés : Adult Autism Spectrum Disorder Autistic Disorder/diagnostic imaging/pathology Brain/pathology Brain Mapping/methods Female Humans Magnetic Resonance Imaging/methods Male gamma-Aminobutyric Acid GABAA receptor density autism cortical thickness postcentral gyrus Index. décimale : PER Périodiques Résumé : The neurobiology of autism has been shown to involve alterations in cortical morphology and gamma-aminobutyric acid A (GABA(A) ) receptor density. We hypothesized that GABA(A) receptor binding potential (GABA(A) R BP(ND) ) would correlate with cortical thickness, but their correlations would differ between autistic adults and typically developing (TD) controls. We studied 50 adults (23 autism, 27 TD, mean age of 27?years) using magnetic resonance imaging to measure cortical thickness, and [(18) F]flumazenil positron emission tomography imaging to measure GABA(A) R BP(ND) . We determined the correlations between cortical thickness and GABA(A) R BP(ND) by cortical lobe, region-of-interest, and diagnosis of autism spectrum disorder (ASD). We also explored potential sex differences in the relationship between cortical thickness and autism characteristics, as measured by autism spectrum quotient (AQ) scores. Comparing autism and TD groups, no significant differences were found in cortical thickness or GABA(A) R BP(ND) . In both autism and TD groups, a negative relationship between cortical thickness and GABA(A) R BP(ND) was observed in the frontal and occipital cortices, but no relationship was found in the temporal or limbic cortices. A positive correlation was seen in the parietal cortex that was only significant for the autism group. Interestingly, in an exploratory analysis, we found sex differences in the relationships between cortical thickness and GABA(A) R BP(ND) , and cortical thickness and AQ scores in the left postcentral gyrus. LAY SUMMARY: The thickness of the brain cortex and the density of the receptors associated with inhibitory neurotransmitter GABA have been hypothesized to underlie the neurobiology of autism. In this study, we found that these biomarkers correlate positively in the parietal cortex, but negatively in the frontal and occipital cortical regions of the brain. Furthermore, we collected preliminary evidence that the correlations between cortical thickness and GABA receptor density are sexdependent in a brain region where sensory inputs are registered. En ligne : http://dx.doi.org/10.1002/aur.2703 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476
in Autism Research > 15-6 (June 2022) . - p.1068-1082[article] Region-specific associations between gamma-aminobutyric acid A receptor binding and cortical thickness in high-functioning autistic adults [Texte imprimé et/ou numérique] / David JAMES, Auteur ; Vicky T. LAM, Auteur ; Booil JO, Auteur ; Lawrence K. FUNG, Auteur . - p.1068-1082.
Langues : Anglais (eng)
in Autism Research > 15-6 (June 2022) . - p.1068-1082
Mots-clés : Adult Autism Spectrum Disorder Autistic Disorder/diagnostic imaging/pathology Brain/pathology Brain Mapping/methods Female Humans Magnetic Resonance Imaging/methods Male gamma-Aminobutyric Acid GABAA receptor density autism cortical thickness postcentral gyrus Index. décimale : PER Périodiques Résumé : The neurobiology of autism has been shown to involve alterations in cortical morphology and gamma-aminobutyric acid A (GABA(A) ) receptor density. We hypothesized that GABA(A) receptor binding potential (GABA(A) R BP(ND) ) would correlate with cortical thickness, but their correlations would differ between autistic adults and typically developing (TD) controls. We studied 50 adults (23 autism, 27 TD, mean age of 27?years) using magnetic resonance imaging to measure cortical thickness, and [(18) F]flumazenil positron emission tomography imaging to measure GABA(A) R BP(ND) . We determined the correlations between cortical thickness and GABA(A) R BP(ND) by cortical lobe, region-of-interest, and diagnosis of autism spectrum disorder (ASD). We also explored potential sex differences in the relationship between cortical thickness and autism characteristics, as measured by autism spectrum quotient (AQ) scores. Comparing autism and TD groups, no significant differences were found in cortical thickness or GABA(A) R BP(ND) . In both autism and TD groups, a negative relationship between cortical thickness and GABA(A) R BP(ND) was observed in the frontal and occipital cortices, but no relationship was found in the temporal or limbic cortices. A positive correlation was seen in the parietal cortex that was only significant for the autism group. Interestingly, in an exploratory analysis, we found sex differences in the relationships between cortical thickness and GABA(A) R BP(ND) , and cortical thickness and AQ scores in the left postcentral gyrus. LAY SUMMARY: The thickness of the brain cortex and the density of the receptors associated with inhibitory neurotransmitter GABA have been hypothesized to underlie the neurobiology of autism. In this study, we found that these biomarkers correlate positively in the parietal cortex, but negatively in the frontal and occipital cortical regions of the brain. Furthermore, we collected preliminary evidence that the correlations between cortical thickness and GABA receptor density are sexdependent in a brain region where sensory inputs are registered. En ligne : http://dx.doi.org/10.1002/aur.2703 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 Altered GABA Concentration in Brain Motor Area Is Associated with the Severity of Motor Disabilities in Individuals with Autism Spectrum Disorder / Yumi UMESAWA in Journal of Autism and Developmental Disorders, 50-8 (August 2020)
[article]
Titre : Altered GABA Concentration in Brain Motor Area Is Associated with the Severity of Motor Disabilities in Individuals with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Yumi UMESAWA, Auteur ; Kanae MATSUSHIMA, Auteur ; Takeshi ATSUMI, Auteur ; Toshihiro KATO, Auteur ; Reiko FUKATSU, Auteur ; Makoto WADA, Auteur ; Masakazu IDE, Auteur Article en page(s) : p.2710-2722 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Developmental coordination disorder Gamma-aminobutyric acid Magnetic resonance spectroscopy Primary motor area Supplementary motor area Index. décimale : PER Périodiques Résumé : Several motor disabilities accompanied with autism spectrum disorder (ASD) are widely known despite limited reports of underlying neural mechanisms. Gamma-aminobutyric acid (GABA) levels in the motor-related cortical areas modulate several motor performances in healthy participants. We hypothesized that abnormal GABA concentrations in the primary motor area (M1) and supplementary motor area (SMA) associate with different motor difficulties for ASD adolescents/adults. We found that increased GABA concentrations in M1 measured using (1)H-magnetic resonance spectroscopy exhibited lower motor performance in tasks requiring increased muscle strength while lower GABA concentrations in SMA were associated with lower scores in tests measuring body coordination. The degrees of neural inhibition in the M1 and SMA regions would contribute to different dimensions of motor disabilities in autism. En ligne : http://dx.doi.org/10.1007/s10803-020-04382-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=428
in Journal of Autism and Developmental Disorders > 50-8 (August 2020) . - p.2710-2722[article] Altered GABA Concentration in Brain Motor Area Is Associated with the Severity of Motor Disabilities in Individuals with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Yumi UMESAWA, Auteur ; Kanae MATSUSHIMA, Auteur ; Takeshi ATSUMI, Auteur ; Toshihiro KATO, Auteur ; Reiko FUKATSU, Auteur ; Makoto WADA, Auteur ; Masakazu IDE, Auteur . - p.2710-2722.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-8 (August 2020) . - p.2710-2722
Mots-clés : Autism spectrum disorder Developmental coordination disorder Gamma-aminobutyric acid Magnetic resonance spectroscopy Primary motor area Supplementary motor area Index. décimale : PER Périodiques Résumé : Several motor disabilities accompanied with autism spectrum disorder (ASD) are widely known despite limited reports of underlying neural mechanisms. Gamma-aminobutyric acid (GABA) levels in the motor-related cortical areas modulate several motor performances in healthy participants. We hypothesized that abnormal GABA concentrations in the primary motor area (M1) and supplementary motor area (SMA) associate with different motor difficulties for ASD adolescents/adults. We found that increased GABA concentrations in M1 measured using (1)H-magnetic resonance spectroscopy exhibited lower motor performance in tasks requiring increased muscle strength while lower GABA concentrations in SMA were associated with lower scores in tests measuring body coordination. The degrees of neural inhibition in the M1 and SMA regions would contribute to different dimensions of motor disabilities in autism. En ligne : http://dx.doi.org/10.1007/s10803-020-04382-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=428 Brief Report: Pilot Single-Blind Placebo Lead-In Study of Acamprosate in Youth with Autistic Disorder / Craig ERICKSON in Journal of Autism and Developmental Disorders, 44-4 (April 2014)
[article]
Titre : Brief Report: Pilot Single-Blind Placebo Lead-In Study of Acamprosate in Youth with Autistic Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Craig ERICKSON, Auteur ; Logan K. WINK, Auteur ; Maureen C. EARLY, Auteur ; Elizabeth STIEGELMEYER, Auteur ; Lauren MATHIEU-FRASIER, Auteur ; Vanessa PATRICK, Auteur ; Christopher J. MCDOUGLE, Auteur Année de publication : 2014 Article en page(s) : p.981-987 Langues : Anglais (eng) Mots-clés : Acamprosate Autism spectrum disorder Glutamate Gamma-aminobutyric acid Index. décimale : PER Périodiques Résumé : An excitatory/inhibitory (E:I) imbalance marked by enhanced glutamate and deficient gamma-aminobutyric acid (GABA) neurotransmission may contribute to the pathophysiology of autism spectrum disorders (ASD). We report on the first single-blind placebo lead-in trial of acamprosate, a drug with putative mechanisms restoring E:I imbalance, in twelve youth with ASD. We conducted a 12-week single-blind, placebo lead-in study of acamprosate in youth age 5–17 years with autistic disorder. Six of nine subjects who received active drug treatment were deemed treatment responders (defined by a score at final visit of “very much improved” or “much improved” on the Clinical Global Impressions Improvement scale) and ?25 % improvement on the Aberrant Behavior Checklist Social Withdrawal subscale. Future larger-scale dose finding studies of acamprosate in ASD may be warranted given this preliminary indication of benefit. En ligne : http://dx.doi.org/10.1007/s10803-013-1943-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=228
in Journal of Autism and Developmental Disorders > 44-4 (April 2014) . - p.981-987[article] Brief Report: Pilot Single-Blind Placebo Lead-In Study of Acamprosate in Youth with Autistic Disorder [Texte imprimé et/ou numérique] / Craig ERICKSON, Auteur ; Logan K. WINK, Auteur ; Maureen C. EARLY, Auteur ; Elizabeth STIEGELMEYER, Auteur ; Lauren MATHIEU-FRASIER, Auteur ; Vanessa PATRICK, Auteur ; Christopher J. MCDOUGLE, Auteur . - 2014 . - p.981-987.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 44-4 (April 2014) . - p.981-987
Mots-clés : Acamprosate Autism spectrum disorder Glutamate Gamma-aminobutyric acid Index. décimale : PER Périodiques Résumé : An excitatory/inhibitory (E:I) imbalance marked by enhanced glutamate and deficient gamma-aminobutyric acid (GABA) neurotransmission may contribute to the pathophysiology of autism spectrum disorders (ASD). We report on the first single-blind placebo lead-in trial of acamprosate, a drug with putative mechanisms restoring E:I imbalance, in twelve youth with ASD. We conducted a 12-week single-blind, placebo lead-in study of acamprosate in youth age 5–17 years with autistic disorder. Six of nine subjects who received active drug treatment were deemed treatment responders (defined by a score at final visit of “very much improved” or “much improved” on the Clinical Global Impressions Improvement scale) and ?25 % improvement on the Aberrant Behavior Checklist Social Withdrawal subscale. Future larger-scale dose finding studies of acamprosate in ASD may be warranted given this preliminary indication of benefit. En ligne : http://dx.doi.org/10.1007/s10803-013-1943-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=228 Increased prefrontal GABA concentrations in adults with autism spectrum disorders / Simon MAIER in Autism Research, 15-7 (July 2022)
PermalinkA Magnetic Resonance Spectroscopy Study of Superior Visual Search Abilities in Children with Autism Spectrum Disorder / David A. EDMONDSON in Autism Research, 13-4 (April 2020)
PermalinkTactile hypersensitivity and GABA concentration in the sensorimotor cortex of adults with autism / L. A. SAPEY-TRIOMPHE in Autism Research, 12-4 (April 2019)
PermalinkPostweaning positive modulation of ?5GABAA receptors improves autism-like features in prenatal valproate rat model in a sex-specific manner / Anja SANTRAC in Autism Research, 15-5 (May 2022)
PermalinkAltered posterior cingulate cortical cyctoarchitecture, but normal density of neurons and interneurons in the posterior cingulate cortex and fusiform gyrus in autism / Adrian L. OBLAK in Autism Research, 4-3 (June 2011)
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