13 recherche sur le mot-clé 'Basal'

Cortico-basal ganglia white matter microstructure is linked to restricted repetitive behavior in autism spectrum disorder / Bradley J. WILKES in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 6p. Titre : Cortico-basal ganglia white matter microstructure is linked to restricted repetitive behavior in autism spectrum disorder Type de document : texte imprimé Auteurs : Bradley J. WILKES, Auteur ; Derek B. ARCHER, Auteur ; Anna L. FARMER, Auteur ; Carly BASS, Auteur ; Hannah KORAH, Auteur ; David E. VAILLANCOURT, Auteur ; Mark H. LEWIS, Auteur Article en page(s) : 6p. Langues : Anglais (eng) Mots-clés : United States  Adolescent  Child  Humans  White Matter/diagnostic imaging  Autism Spectrum Disorder/diagnostic imaging  Basal Ganglia/diagnostic imaging  Brain  Water  Autism spectrum disorder  Basal ganglia  Cerebellum  Cortico-basal ganglia  Diffusion tensor imaging  Free-water  Gray matter  Restricted repetitive behavior  White matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Restricted repetitive behavior (RRB) is one of two behavioral domains required for the diagnosis of autism spectrum disorder (ASD). Neuroimaging is widely used to study brain alterations associated with ASD and the domain of social and communication deficits, but there has been less work regarding brain alterations linked to RRB. METHODS: We utilized neuroimaging data from the National Institute of Mental Health Data Archive to assess basal ganglia and cerebellum structure in a cohort of children and adolescents with ASD compared to typically developing (TD) controls. We evaluated regional gray matter volumes from T1-weighted anatomical scans and assessed diffusion-weighted scans to quantify white matter microstructure with free-water imaging. We also investigated the interaction of biological sex and ASD diagnosis on these measures, and their correlation with clinical scales of RRB. RESULTS: Individuals with ASD had significantly lower free-water corrected fractional anisotropy (FA(T)) and higher free-water (FW) in cortico-basal ganglia white matter tracts. These microstructural differences did not interact with biological sex. Moreover, both FA(T) and FW in basal ganglia white matter tracts significantly correlated with measures of RRB. In contrast, we found no significant difference in basal ganglia or cerebellar gray matter volumes. LIMITATIONS: The basal ganglia and cerebellar regions in this study were selected due to their hypothesized relevance to RRB. Differences between ASD and TD individuals that may occur outside the basal ganglia and cerebellum, and their potential relationship to RRB, were not evaluated. CONCLUSIONS: These new findings demonstrate that cortico-basal ganglia white matter microstructure is altered in ASD and linked to RRB. FW in cortico-basal ganglia and intra-basal ganglia white matter was more sensitive to group differences in ASD, whereas cortico-basal ganglia FA(T) was more closely linked to RRB. In contrast, basal ganglia and cerebellar volumes did not differ in ASD. There was no interaction between ASD diagnosis and sex-related differences in brain structure. Future diffusion imaging investigations in ASD may benefit from free-water estimation and correction in order to better understand how white matter is affected in ASD, and how such measures are linked to RRB. En ligne : https://dx.doi.org/10.1186/s13229-023-00581-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Cortico-basal ganglia white matter microstructure is linked to restricted repetitive behavior in autism spectrum disorder [texte imprimé] / Bradley J. WILKES, Auteur ; Derek B. ARCHER, Auteur ; Anna L. FARMER, Auteur ; Carly BASS, Auteur ; Hannah KORAH, Auteur ; David E. VAILLANCOURT, Auteur ; Mark H. LEWIS, Auteur . - 6p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 6p. Mots-clés : United States  Adolescent  Child  Humans  White Matter/diagnostic imaging  Autism Spectrum Disorder/diagnostic imaging  Basal Ganglia/diagnostic imaging  Brain  Water  Autism spectrum disorder  Basal ganglia  Cerebellum  Cortico-basal ganglia  Diffusion tensor imaging  Free-water  Gray matter  Restricted repetitive behavior  White matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Restricted repetitive behavior (RRB) is one of two behavioral domains required for the diagnosis of autism spectrum disorder (ASD). Neuroimaging is widely used to study brain alterations associated with ASD and the domain of social and communication deficits, but there has been less work regarding brain alterations linked to RRB. METHODS: We utilized neuroimaging data from the National Institute of Mental Health Data Archive to assess basal ganglia and cerebellum structure in a cohort of children and adolescents with ASD compared to typically developing (TD) controls. We evaluated regional gray matter volumes from T1-weighted anatomical scans and assessed diffusion-weighted scans to quantify white matter microstructure with free-water imaging. We also investigated the interaction of biological sex and ASD diagnosis on these measures, and their correlation with clinical scales of RRB. RESULTS: Individuals with ASD had significantly lower free-water corrected fractional anisotropy (FA(T)) and higher free-water (FW) in cortico-basal ganglia white matter tracts. These microstructural differences did not interact with biological sex. Moreover, both FA(T) and FW in basal ganglia white matter tracts significantly correlated with measures of RRB. In contrast, we found no significant difference in basal ganglia or cerebellar gray matter volumes. LIMITATIONS: The basal ganglia and cerebellar regions in this study were selected due to their hypothesized relevance to RRB. Differences between ASD and TD individuals that may occur outside the basal ganglia and cerebellum, and their potential relationship to RRB, were not evaluated. CONCLUSIONS: These new findings demonstrate that cortico-basal ganglia white matter microstructure is altered in ASD and linked to RRB. FW in cortico-basal ganglia and intra-basal ganglia white matter was more sensitive to group differences in ASD, whereas cortico-basal ganglia FA(T) was more closely linked to RRB. In contrast, basal ganglia and cerebellar volumes did not differ in ASD. There was no interaction between ASD diagnosis and sex-related differences in brain structure. Future diffusion imaging investigations in ASD may benefit from free-water estimation and correction in order to better understand how white matter is affected in ASD, and how such measures are linked to RRB. En ligne : https://dx.doi.org/10.1186/s13229-023-00581-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

Subcortical brain volume variations in autistic individuals across the lifespan / Danielle CHRISTENSEN in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 46 Titre : Subcortical brain volume variations in autistic individuals across the lifespan Type de document : texte imprimé Auteurs : Danielle CHRISTENSEN, Auteur ; Young Seon SHIN, Auteur ; Jingying WANG, Auteur ; Carolina R. CUOMO, Auteur ; Tyler DENTRY, Auteur ; Hanna M. GEMMELL, Auteur ; Stormi L. PULVER, Auteur ; Ann-Marie ORLANDO, Auteur ; Walker S. MCKINNEY, Auteur ; Cassie J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Bikram KARMAKAR, Auteur ; Stephen A. COOMBES, Auteur ; Matthew W. MOSCONI, Auteur ; Zheng WANG, Auteur ; Danielle CHRISTENSEN, Auteur ; Young Seon SHIN, Auteur ; Jingying WANG, Auteur ; Carolina R. CUOMO, Auteur ; Tyler DENTRY, Auteur ; Hanna M. GEMMELL, Auteur ; Stormi L. PULVER, Auteur ; Ann-Marie ORLANDO, Auteur ; Walker S. MCKINNEY, Auteur ; Cassie J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Bikram KARMAKAR, Auteur ; Stephen A. COOMBES, Auteur ; Matthew W. MOSCONI, Auteur ; Zheng WANG, Auteur Article en page(s) : 46 Langues : Anglais (eng) Mots-clés : Humans  Adult  Male  Female  Child  Middle Aged  Adolescent  Magnetic Resonance Imaging  Aged  Young Adult  Cross-Sectional Studies  Brain/pathology/diagnostic imaging  Autistic Disorder/pathology/diagnostic imaging  Organ Size  Amygdala/pathology/diagnostic imaging  Longevity  Autism Spectrum Disorder/pathology/diagnostic imaging  Hippocampus/pathology/diagnostic imaging  Basal Ganglia/pathology/diagnostic imaging  Aging  Amygdala  Autism spectrum disorder  Basal ganglia  Brain atrophy  Cerebral ventricles  Hippocampus  Lifespan  MRI  Institutional Review Boards (IRB) at UTSW and Children’s Hospital of Dallas  (STU052013-4  approval date: August 30, 2011), KU Medical Center (STUDY00140269  approval date: March 17, 2017), and UF (IRB201801378  approval date: July 26,  2022). Consent for publication: All participants provided their informed consent  regarding data handling procedures. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Structural alterations in subcortical brain regions-including the amygdala, hippocampus, basal ganglia, and cerebral ventricles-have been linked to various clinical features of autism spectrum disorder (ASD). However, volumetric features among these regions in autistic individuals across the lifespan remain poorly understood. This cross-sectional study aimed to investigate age-associated volumetric deviations in these clinically implicated subcortical regions of autistic individuals and neurotypical controls, and to examine the structural interrelationships within each group. METHODS: We examined multi-site T1-weighted MRI data from 119 autistic and 122 neurotypical participants aged 7-73 years. Volumetric data for the amygdala, hippocampus, basal ganglia, and cerebral ventricles were harmonized across sites using the ComBat algorithm. Following this, volumetric composite indices (principal component scores) were extracted for each region using principal component analysis. These scores represent dominant volumetric patterns of each subcortical region, with higher values reflecting greater volume. These composite scores were then compared between groups and with increasing age. RESULTS: Autistic participants exhibited greater amygdala volume in early life, followed by more pronounced age-associated reductions in adulthood compared to neurotypical controls. A similar trend was observed for the hippocampus, with early volumetric enlargement giving way to steeper declines in later years. In contrast, the autistic group consistently trended towards larger basal ganglia across the lifespan. Additionally, autistic participants showed accelerated enlargement in the cerebral ventricles with increasing age. Both groups exhibited patterns of inverse volumetric associations between the cerebral ventricles and surrounding subcortical regions in later adulthood; however, these relationships were more pronounced and widely distributed in the autistic group. LIMITATIONS: The cross-sectional design of this study limited us from capturing intra-individual differences at baseline and quantifying the lifespan trajectories of each participant. Site-related sampling differences may have introduced cohort bias in the results. CONCLUSIONS: Autistic participants and neurotypical controls exhibit distinct, age-related volumetric patterns across key subcortical brain regions. Enlargement of the cerebral ventricles and their inverse structural relationships with neighboring structures in later life may indicate atrophic processes beginning in middle adulthood in ASD. These findings highlight the need to further investigate mechanisms of atypical brain aging in ASD and consider these subcortical brain regions as potential biomarkers of neurodegeneration and intervention targets across the adult lifespan. En ligne : https://dx.doi.org/10.1186/s13229-025-00673-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Subcortical brain volume variations in autistic individuals across the lifespan [texte imprimé] / Danielle CHRISTENSEN, Auteur ; Young Seon SHIN, Auteur ; Jingying WANG, Auteur ; Carolina R. CUOMO, Auteur ; Tyler DENTRY, Auteur ; Hanna M. GEMMELL, Auteur ; Stormi L. PULVER, Auteur ; Ann-Marie ORLANDO, Auteur ; Walker S. MCKINNEY, Auteur ; Cassie J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Bikram KARMAKAR, Auteur ; Stephen A. COOMBES, Auteur ; Matthew W. MOSCONI, Auteur ; Zheng WANG, Auteur ; Danielle CHRISTENSEN, Auteur ; Young Seon SHIN, Auteur ; Jingying WANG, Auteur ; Carolina R. CUOMO, Auteur ; Tyler DENTRY, Auteur ; Hanna M. GEMMELL, Auteur ; Stormi L. PULVER, Auteur ; Ann-Marie ORLANDO, Auteur ; Walker S. MCKINNEY, Auteur ; Cassie J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Bikram KARMAKAR, Auteur ; Stephen A. COOMBES, Auteur ; Matthew W. MOSCONI, Auteur ; Zheng WANG, Auteur . - 46. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 46 Mots-clés : Humans  Adult  Male  Female  Child  Middle Aged  Adolescent  Magnetic Resonance Imaging  Aged  Young Adult  Cross-Sectional Studies  Brain/pathology/diagnostic imaging  Autistic Disorder/pathology/diagnostic imaging  Organ Size  Amygdala/pathology/diagnostic imaging  Longevity  Autism Spectrum Disorder/pathology/diagnostic imaging  Hippocampus/pathology/diagnostic imaging  Basal Ganglia/pathology/diagnostic imaging  Aging  Amygdala  Autism spectrum disorder  Basal ganglia  Brain atrophy  Cerebral ventricles  Hippocampus  Lifespan  MRI  Institutional Review Boards (IRB) at UTSW and Children’s Hospital of Dallas  (STU052013-4  approval date: August 30, 2011), KU Medical Center (STUDY00140269  approval date: March 17, 2017), and UF (IRB201801378  approval date: July 26,  2022). Consent for publication: All participants provided their informed consent  regarding data handling procedures. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Structural alterations in subcortical brain regions-including the amygdala, hippocampus, basal ganglia, and cerebral ventricles-have been linked to various clinical features of autism spectrum disorder (ASD). However, volumetric features among these regions in autistic individuals across the lifespan remain poorly understood. This cross-sectional study aimed to investigate age-associated volumetric deviations in these clinically implicated subcortical regions of autistic individuals and neurotypical controls, and to examine the structural interrelationships within each group. METHODS: We examined multi-site T1-weighted MRI data from 119 autistic and 122 neurotypical participants aged 7-73 years. Volumetric data for the amygdala, hippocampus, basal ganglia, and cerebral ventricles were harmonized across sites using the ComBat algorithm. Following this, volumetric composite indices (principal component scores) were extracted for each region using principal component analysis. These scores represent dominant volumetric patterns of each subcortical region, with higher values reflecting greater volume. These composite scores were then compared between groups and with increasing age. RESULTS: Autistic participants exhibited greater amygdala volume in early life, followed by more pronounced age-associated reductions in adulthood compared to neurotypical controls. A similar trend was observed for the hippocampus, with early volumetric enlargement giving way to steeper declines in later years. In contrast, the autistic group consistently trended towards larger basal ganglia across the lifespan. Additionally, autistic participants showed accelerated enlargement in the cerebral ventricles with increasing age. Both groups exhibited patterns of inverse volumetric associations between the cerebral ventricles and surrounding subcortical regions in later adulthood; however, these relationships were more pronounced and widely distributed in the autistic group. LIMITATIONS: The cross-sectional design of this study limited us from capturing intra-individual differences at baseline and quantifying the lifespan trajectories of each participant. Site-related sampling differences may have introduced cohort bias in the results. CONCLUSIONS: Autistic participants and neurotypical controls exhibit distinct, age-related volumetric patterns across key subcortical brain regions. Enlargement of the cerebral ventricles and their inverse structural relationships with neighboring structures in later life may indicate atrophic processes beginning in middle adulthood in ASD. These findings highlight the need to further investigate mechanisms of atypical brain aging in ASD and consider these subcortical brain regions as potential biomarkers of neurodegeneration and intervention targets across the adult lifespan. En ligne : https://dx.doi.org/10.1186/s13229-025-00673-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Basal ganglia and autism – a translational perspective / Krishna SUBRAMANIAN in Autism Research, 10-11 (November 2017)  

Public ISBD [article]  inAutism Research > 10-11 (November 2017) . - p.1751-1775 Titre : Basal ganglia and autism – a translational perspective Type de document : texte imprimé Auteurs : Krishna SUBRAMANIAN, Auteur ; Cheryl BRANDENBURG, Auteur ; Fernanda ORSATI, Auteur ; Jean-Jacques SOGHOMONIAN, Auteur ; John P. HUSSMAN, Auteur ; Gene J. BLATT, Auteur Article en page(s) : p.1751-1775 Langues : Anglais (eng) Mots-clés : basal ganglia  animal models  motor, autism  neuroanatomy  neuroimaging  neuropathology Index. décimale : PER Périodiques Résumé : The basal ganglia are a collection of nuclei below the cortical surface that are involved in both motor and non-motor functions, including higher order cognition, social interactions, speech, and repetitive behaviors. Motor development milestones that are delayed in autism such as gross motor, fine motor and walking can aid in early diagnosis of autism. Neuropathology and neuroimaging findings in autism cases revealed volumetric changes and altered cell density in select basal ganglia nuclei. Interestingly, in autism, both the basal ganglia and the cerebellum are impacted both in their motor and non-motor domains and recently, found to be connected via the pons through a short disynaptic pathway. In typically developing individuals, the basal ganglia plays an important role in: eye movement, movement coordination, sensory modulation and processing, eye-hand coordination, action chaining, and inhibition control. Genetic models have proved to be useful toward understanding cellular and molecular changes at the synaptic level in the basal ganglia that may in part contribute to these autism-related behaviors. In autism, basal ganglia functions in motor skill acquisition and development are altered, thus disrupting the normal flow of feedback to the cortex. Taken together, there is an abundance of emerging evidence that the basal ganglia likely plays critical roles in maintaining an inhibitory balance between cortical and subcortical structures, critical for normal motor actions and cognitive functions. In autism, this inhibitory balance is disturbed thus impacting key pathways that affect normal cortical network activity. Autism Res 2017, 10: 1751–1775. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Habit learning, action selection and performance are modulated by the basal ganglia, a collection of groups of neurons located below the cerebral cortex in the brain. In autism, there is emerging evidence that parts of the basal ganglia are structurally and functionally altered disrupting normal information flow. The basal ganglia through its interconnected circuits with the cerebral cortex and the cerebellum can potentially impact various motor and cognitive functions in the autism brain. En ligne : http://dx.doi.org/10.1002/aur.1837 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322 [article] Basal ganglia and autism – a translational perspective [texte imprimé] / Krishna SUBRAMANIAN, Auteur ; Cheryl BRANDENBURG, Auteur ; Fernanda ORSATI, Auteur ; Jean-Jacques SOGHOMONIAN, Auteur ; John P. HUSSMAN, Auteur ; Gene J. BLATT, Auteur . - p.1751-1775. Langues : Anglais (eng) in Autism Research > 10-11 (November 2017) . - p.1751-1775 Mots-clés : basal ganglia  animal models  motor, autism  neuroanatomy  neuroimaging  neuropathology Index. décimale : PER Périodiques Résumé : The basal ganglia are a collection of nuclei below the cortical surface that are involved in both motor and non-motor functions, including higher order cognition, social interactions, speech, and repetitive behaviors. Motor development milestones that are delayed in autism such as gross motor, fine motor and walking can aid in early diagnosis of autism. Neuropathology and neuroimaging findings in autism cases revealed volumetric changes and altered cell density in select basal ganglia nuclei. Interestingly, in autism, both the basal ganglia and the cerebellum are impacted both in their motor and non-motor domains and recently, found to be connected via the pons through a short disynaptic pathway. In typically developing individuals, the basal ganglia plays an important role in: eye movement, movement coordination, sensory modulation and processing, eye-hand coordination, action chaining, and inhibition control. Genetic models have proved to be useful toward understanding cellular and molecular changes at the synaptic level in the basal ganglia that may in part contribute to these autism-related behaviors. In autism, basal ganglia functions in motor skill acquisition and development are altered, thus disrupting the normal flow of feedback to the cortex. Taken together, there is an abundance of emerging evidence that the basal ganglia likely plays critical roles in maintaining an inhibitory balance between cortical and subcortical structures, critical for normal motor actions and cognitive functions. In autism, this inhibitory balance is disturbed thus impacting key pathways that affect normal cortical network activity. Autism Res 2017, 10: 1751–1775. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Habit learning, action selection and performance are modulated by the basal ganglia, a collection of groups of neurons located below the cerebral cortex in the brain. In autism, there is emerging evidence that parts of the basal ganglia are structurally and functionally altered disrupting normal information flow. The basal ganglia through its interconnected circuits with the cerebral cortex and the cerebellum can potentially impact various motor and cognitive functions in the autism brain. En ligne : http://dx.doi.org/10.1002/aur.1837 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322

Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype / Gregor DOMES in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype Type de document : texte imprimé Auteurs : Gregor DOMES, Auteur ; Marie-Anne CROYÉ, Auteur ; Petra FREILINGER, Auteur ; Andreas BOHLSCHEID, Auteur ; Winfried A. WILLINEK, Auteur ; Jobst MEYER, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  Adult  Gray Matter/pathology/diagnostic imaging  Magnetic Resonance Imaging  Young Adult  Adolescent  Middle Aged  Sex Chromosome Disorders of Sex Development/pathology/diagnostic imaging  Brain/pathology/diagnostic imaging  Trisomy/pathology  Cerebral Cortex/pathology/diagnostic imaging  Organ Size  Sex Chromosome Aberrations  Sex Chromosome Disorders/pathology/diagnostic imaging  Chromosomes, Human, X  47,xxx  Amygdala  Basal ganglia  Cerebellum  Hippocampus  Morphometry  Triple X syndrome  Trisomy X  authors declare no competing interests. Ethical approval and consent to  participate: The study was conducted in accordance with the Declaration of  Helsinki. The protocol was approved by the ethics committee of the state medical  association Rhineland-Palatinate (#2022–16572). Participants gave  written-informed consent before participation. Index. décimale : PER Périodiques Résumé : BACKGROUND: Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in cortical and subcortical areas. However, the empirical evidence from adults is very limited and group comparison on a voxel-wise basis for gray matter volume and cortical thickness is still missing. METHODS: Using voxel-based morphometry (VBM) and surface-based morphometry (SBM), we investigated regional gray matter changes in a sample of n = 20 adult women (aged 18-49 years) with 47,XXX karyotype using T1-weighted 3T MRI scans. RESULTS: Compared to an age- and education-matched control group (and controlled for differences in total intracranial volume), the VBM revealed decreased regional gray matter volumes in the hippocampus, amygdala, parts of the basal ganglia, insula, prefrontal areas and cerebellum. To a lesser extent, we also noted specific reductions in cortical thickness in a smaller part of those regions. CONCLUSION: The observed network is significantly involved in the processing of cognitive, affective, and social stimuli and might be a potential neuronal correlate of the autism-like social-cognitive problems described in 47,XXX in the literature. En ligne : https://dx.doi.org/10.1186/s11689-025-09608-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype [texte imprimé] / Gregor DOMES, Auteur ; Marie-Anne CROYÉ, Auteur ; Petra FREILINGER, Auteur ; Andreas BOHLSCHEID, Auteur ; Winfried A. WILLINEK, Auteur ; Jobst MEYER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Female  Adult  Gray Matter/pathology/diagnostic imaging  Magnetic Resonance Imaging  Young Adult  Adolescent  Middle Aged  Sex Chromosome Disorders of Sex Development/pathology/diagnostic imaging  Brain/pathology/diagnostic imaging  Trisomy/pathology  Cerebral Cortex/pathology/diagnostic imaging  Organ Size  Sex Chromosome Aberrations  Sex Chromosome Disorders/pathology/diagnostic imaging  Chromosomes, Human, X  47,xxx  Amygdala  Basal ganglia  Cerebellum  Hippocampus  Morphometry  Triple X syndrome  Trisomy X  authors declare no competing interests. Ethical approval and consent to  participate: The study was conducted in accordance with the Declaration of  Helsinki. The protocol was approved by the ethics committee of the state medical  association Rhineland-Palatinate (#2022–16572). Participants gave  written-informed consent before participation. Index. décimale : PER Périodiques Résumé : BACKGROUND: Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in cortical and subcortical areas. However, the empirical evidence from adults is very limited and group comparison on a voxel-wise basis for gray matter volume and cortical thickness is still missing. METHODS: Using voxel-based morphometry (VBM) and surface-based morphometry (SBM), we investigated regional gray matter changes in a sample of n = 20 adult women (aged 18-49 years) with 47,XXX karyotype using T1-weighted 3T MRI scans. RESULTS: Compared to an age- and education-matched control group (and controlled for differences in total intracranial volume), the VBM revealed decreased regional gray matter volumes in the hippocampus, amygdala, parts of the basal ganglia, insula, prefrontal areas and cerebellum. To a lesser extent, we also noted specific reductions in cortical thickness in a smaller part of those regions. CONCLUSION: The observed network is significantly involved in the processing of cognitive, affective, and social stimuli and might be a potential neuronal correlate of the autism-like social-cognitive problems described in 47,XXX in the literature. En ligne : https://dx.doi.org/10.1186/s11689-025-09608-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Increased putamen and callosal motor subregion in treatment-naïve boys with Tourette syndrome indicates changes in the bihemispheric motor network / Veit ROESSNER in Journal of Child Psychology and Psychiatry, 52-3 (March 2011)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 52-3 (March 2011) . - p.306-314 Titre : Increased putamen and callosal motor subregion in treatment-naïve boys with Tourette syndrome indicates changes in the bihemispheric motor network Type de document : texte imprimé Auteurs : Veit ROESSNER, Auteur ; Sebastian OVERLACK, Auteur ; Carsten SCHMIDT-SAMOA, Auteur ; Jürgen BAUDEWIG, Auteur ; Peter DECHENT, Auteur ; Aribert ROTHENBERGER, Auteur ; Gunther HELMS, Auteur Année de publication : 2011 Article en page(s) : p.306-314 Langues : Anglais (eng) Mots-clés : Tic disorders  Tourette syndrome  corpus callosum  basal ganglia  magnetic resonance imaging  child Index. décimale : PER Périodiques Résumé : Background:  Despite an increasing number of studies, findings of structural brain alterations in patients with Tourette syndrome are still inconsistent. Several confounders (comorbid conditions, medication, gender, age, IQ) might explain these discrepancies. In the present study, these confounders were excluded to identify differences in basal ganglia and corpus callosum size that can be ascribed more probably to Tourette syndrome per se. Methods:  High-resolution T1-weighted structural magnetic resonance images of 49 boys with Tourette syndrome were compared with those of 42 healthy boys. The groups were matched for IQ and age (9 to 15 years). Boys with comorbid conditions and previous treatment were excluded. Volumes of gray and white matter, cerebrospinal fluid as well as the size of the basal ganglia, the thalamus, the corpus callosum and its subregions were estimated. Results:  The left and right putamen and subregion 3 of the corpus callosum were larger in boys with Tourette syndrome than in healthy controls. No differences were found in volumes of caudate nucleus, globus pallidus or thalamus of each hemisphere or in total callosal size and its other subregions. Conclusions:  Bilateral enlargement of the putamen may reflect dopaminergic dysfunction or neuroimmunologic alterations (PANDAS) underlying Tourette syndrome. The larger callosal motor subregion 3 might be a consequence of daily tic activity. Previous divergent volumetric findings might be ascribed to confounding variables like comorbid conditions or medication, or to different imaging methods. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2010.02324.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118 [article] Increased putamen and callosal motor subregion in treatment-naïve boys with Tourette syndrome indicates changes in the bihemispheric motor network [texte imprimé] / Veit ROESSNER, Auteur ; Sebastian OVERLACK, Auteur ; Carsten SCHMIDT-SAMOA, Auteur ; Jürgen BAUDEWIG, Auteur ; Peter DECHENT, Auteur ; Aribert ROTHENBERGER, Auteur ; Gunther HELMS, Auteur . - 2011 . - p.306-314. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 52-3 (March 2011) . - p.306-314 Mots-clés : Tic disorders  Tourette syndrome  corpus callosum  basal ganglia  magnetic resonance imaging  child Index. décimale : PER Périodiques Résumé : Background:  Despite an increasing number of studies, findings of structural brain alterations in patients with Tourette syndrome are still inconsistent. Several confounders (comorbid conditions, medication, gender, age, IQ) might explain these discrepancies. In the present study, these confounders were excluded to identify differences in basal ganglia and corpus callosum size that can be ascribed more probably to Tourette syndrome per se. Methods:  High-resolution T1-weighted structural magnetic resonance images of 49 boys with Tourette syndrome were compared with those of 42 healthy boys. The groups were matched for IQ and age (9 to 15 years). Boys with comorbid conditions and previous treatment were excluded. Volumes of gray and white matter, cerebrospinal fluid as well as the size of the basal ganglia, the thalamus, the corpus callosum and its subregions were estimated. Results:  The left and right putamen and subregion 3 of the corpus callosum were larger in boys with Tourette syndrome than in healthy controls. No differences were found in volumes of caudate nucleus, globus pallidus or thalamus of each hemisphere or in total callosal size and its other subregions. Conclusions:  Bilateral enlargement of the putamen may reflect dopaminergic dysfunction or neuroimmunologic alterations (PANDAS) underlying Tourette syndrome. The larger callosal motor subregion 3 might be a consequence of daily tic activity. Previous divergent volumetric findings might be ascribed to confounding variables like comorbid conditions or medication, or to different imaging methods. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2010.02324.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118

Inflectional morphology in high-functioning autism: Evidence for speeded grammatical processing / Matthew WALENSKI in Research in Autism Spectrum Disorders, 8-11 (November 2014)  

Permalink

Probabilistic reinforcement learning in adults with autism spectrum disorders / Marjorie SOLOMON in Autism Research, 4-2 (April 2011)  

Permalink

The Neostriatal Mosaic: Multiple Levels of Compartmental Organization in the Basal Ganglia / Charles R. GERFEN in Annual Review of Neuroscience, 15 (1992)

Permalink

Annotation: Tourette syndrome: a relentless drumbeat – driven by misguided brain oscillations / James F. LECKMAN in Journal of Child Psychology and Psychiatry, 47-6 (June 2006)  

Permalink

Modeling Restricted Repetitive Behavior in Animals / Allison BECHARD in Autism - Open Access, 2-S ([01/12/2012])  

Permalink