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

Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome / Marie-Anne CROYÉ in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome Type de document : texte imprimé Auteurs : Marie-Anne CROYÉ, Auteur ; Petra FREILINGER, Auteur ; Hendrik JÃœRGENLIMKE, Auteur ; Gregor DOMES, Auteur ; Jobst MEYER, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  Adult  Empathy/physiology  Anxiety/psychology  Young Adult  Autistic Disorder/psychology  Chromosomes, Human, X  Adaptation, Psychological  Case-Control Studies  Sex Chromosome Aberrations  Trisomy  Sex Chromosome Disorders of Sex Development  47,xxx  Autistic traits  Chronic stress  Sex chromosome aneuploidy  Social anxiety  Social functioning  Somatization  Stress coping mechanisms  Triple X syndrome  Trisomy X  conducted in accordance with the Declaration of Helsinki. Ethical approval was  obtained from the Ethics Committee of the University of Trier (Ref. No. 30/2021).  All participants provided written informed consent prior to their participation.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Triple X syndrome (TXS, 47,XXX) is a sex chromosome aneuploidy affecting females. The condition is associated with cognitive, emotional, and social challenges. While prior research has primarily focused on children, the social and psychological profile of adult women with TXS remains understudied. This study aims to provide a comprehensive assessment of these aspects in adult women with TXS compared to matched controls. METHODS: A cohort of 44 women with TXS (mean age 30.5 years) was compared to 50 age- and education-matched controls (mean age 29.7 years). Standardized assessments measured verbal IQ, psychological distress, chronic stress, emotion regulation, coping mechanisms, social anxiety, empathy, autistic traits, and personality traits. Group comparisons were conducted using ANOVAs and MANOVAs, with additional χ² tests for categorical variables. RESULTS: Depression and trait anxiety did not significantly differ between groups, though both groups exhibited notably high scores. However, a greater number of individuals in the TXS group reported elevated social anxiety and autistic traits, and reduced empathy. Moreover, there were indications of increased self-reported social tensions, personal distress, and somatization within the TXS group. No significant differences were found in personality traits, verbal IQ, chronic stress levels, and emotion regulation. Additionally, TXS participants tended to rely less on the maladaptive coping strategy of alcohol and cigarette consumption. CONCLUSION: Our findings underscore autistic traits, social anxiety, and reduced empathy as significant challenges for adult women with TXS. While cognitive and emotional characteristics were largely comparable to those of age- and education-matched controls, the heightened social difficulties suggest a potential benefit of targeted interventions, such as social skills training, to support affected individuals. Longitudinal studies are essential to understand the long-term progression of these challenges and to develop effective therapeutic strategies. En ligne : https://dx.doi.org/10.1186/s11689-025-09631-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome [texte imprimé] / Marie-Anne CROYÉ, Auteur ; Petra FREILINGER, Auteur ; Hendrik JÃœRGENLIMKE, Auteur ; Gregor DOMES, Auteur ; Jobst MEYER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Female  Adult  Empathy/physiology  Anxiety/psychology  Young Adult  Autistic Disorder/psychology  Chromosomes, Human, X  Adaptation, Psychological  Case-Control Studies  Sex Chromosome Aberrations  Trisomy  Sex Chromosome Disorders of Sex Development  47,xxx  Autistic traits  Chronic stress  Sex chromosome aneuploidy  Social anxiety  Social functioning  Somatization  Stress coping mechanisms  Triple X syndrome  Trisomy X  conducted in accordance with the Declaration of Helsinki. Ethical approval was  obtained from the Ethics Committee of the University of Trier (Ref. No. 30/2021).  All participants provided written informed consent prior to their participation.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Triple X syndrome (TXS, 47,XXX) is a sex chromosome aneuploidy affecting females. The condition is associated with cognitive, emotional, and social challenges. While prior research has primarily focused on children, the social and psychological profile of adult women with TXS remains understudied. This study aims to provide a comprehensive assessment of these aspects in adult women with TXS compared to matched controls. METHODS: A cohort of 44 women with TXS (mean age 30.5 years) was compared to 50 age- and education-matched controls (mean age 29.7 years). Standardized assessments measured verbal IQ, psychological distress, chronic stress, emotion regulation, coping mechanisms, social anxiety, empathy, autistic traits, and personality traits. Group comparisons were conducted using ANOVAs and MANOVAs, with additional χ² tests for categorical variables. RESULTS: Depression and trait anxiety did not significantly differ between groups, though both groups exhibited notably high scores. However, a greater number of individuals in the TXS group reported elevated social anxiety and autistic traits, and reduced empathy. Moreover, there were indications of increased self-reported social tensions, personal distress, and somatization within the TXS group. No significant differences were found in personality traits, verbal IQ, chronic stress levels, and emotion regulation. Additionally, TXS participants tended to rely less on the maladaptive coping strategy of alcohol and cigarette consumption. CONCLUSION: Our findings underscore autistic traits, social anxiety, and reduced empathy as significant challenges for adult women with TXS. While cognitive and emotional characteristics were largely comparable to those of age- and education-matched controls, the heightened social difficulties suggest a potential benefit of targeted interventions, such as social skills training, to support affected individuals. Longitudinal studies are essential to understand the long-term progression of these challenges and to develop effective therapeutic strategies. En ligne : https://dx.doi.org/10.1186/s11689-025-09631-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder / Thorsten M. KRANZ in Autism Research, 9-10 (October 2016)  

Public ISBD [article]  inAutism Research > 9-10 (October 2016) . - p.1036-1045 Titre : Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder Type de document : texte imprimé Auteurs : Thorsten M. KRANZ, Auteur ; Marnie KOPP, Auteur ; Regina WALTES, Auteur ; Michael SACHSE, Auteur ; Eftichia DUKETIS, Auteur ; Tomasz A. JARCZOK, Auteur ; Franziska DEGENHARDT, Auteur ; Katharina GÖRGEN, Auteur ; Jobst MEYER, Auteur ; Christine M. FREITAG, Auteur ; Andreas G. CHIOCCHETTI, Auteur Article en page(s) : p.1036-1045 Langues : Anglais (eng) Mots-clés : meta-analysis  autism spectrum disorder  oxytocin receptor  genotyping  social interaction  endophenotype  genetics  oxytocin Index. décimale : PER Périodiques Résumé : Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01–1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview – revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). En ligne : http://dx.doi.org/10.1002/aur.1597 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294 [article] Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder [texte imprimé] / Thorsten M. KRANZ, Auteur ; Marnie KOPP, Auteur ; Regina WALTES, Auteur ; Michael SACHSE, Auteur ; Eftichia DUKETIS, Auteur ; Tomasz A. JARCZOK, Auteur ; Franziska DEGENHARDT, Auteur ; Katharina GÖRGEN, Auteur ; Jobst MEYER, Auteur ; Christine M. FREITAG, Auteur ; Andreas G. CHIOCCHETTI, Auteur . - p.1036-1045. Langues : Anglais (eng) in Autism Research > 9-10 (October 2016) . - p.1036-1045 Mots-clés : meta-analysis  autism spectrum disorder  oxytocin receptor  genotyping  social interaction  endophenotype  genetics  oxytocin Index. décimale : PER Périodiques Résumé : Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01–1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview – revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). En ligne : http://dx.doi.org/10.1002/aur.1597 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294

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