Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method / Maude SCHNEIDER in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method Type de document : texte imprimé Auteurs : Maude SCHNEIDER, Auteur ; Thomas VAESSEN, Auteur ; Esther D.A. VAN DUIN, Auteur ; Zuzana KASANOVA, Auteur ; Wolfgang VIECHTBAUER, Auteur ; Ulrich REININGHAUS, Auteur ; Claudia VINGERHOETS, Auteur ; Jan BOOIJ, Auteur ; Ann SWILLEN, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Thérèse VAN AMELSVOORT, Auteur ; Inez MYIN-GERMEYS, Auteur Langues : Anglais (eng) Mots-clés : Adult  DiGeorge Syndrome  Ecological Momentary Assessment  Humans  Mental Disorders  Psychotic Disorders/complications  Stress, Psychological/complications  22q11.2 deletion syndrome  Experience sampling method  Momentary psychotic experiences  Negative affect  Positive affect  Stress reactivity Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with an increased risk of psychiatric disorders. Vulnerability for psychopathology has been related to an increased reactivity to stress. Here, we examined affective states, perceived stress, affective and psychotic reactivity to various sources of environmental stress using the experience sampling method (ESM), a structured diary technique allowing repeated assessments in the context of daily life. METHODS: Adults with 22q11DS (n = 31; age, 34.1 years) and matched healthy controls (HCs; n = 24; age, 39.9 years) were included. ESM was used to assess affective states, perceived stress, and stress reactivity. Data were analyzed using multilevel regression models. RESULTS: Adults with 22q11DS displayed overall higher levels of negative affect but comparable levels of positive affect compared to HCs. Higher levels of perceived stress were reported by individuals with 22q11DS. Comparable affective and psychotic reactivity in relation to all types of environmental stress was observed between the two groups. CONCLUSION: The results point toward higher levels of negative affect and differences in the perception of daily hassles in 22q11DS but no difference in affective or psychotic reactivity to stress. This study contributes to the growing literature regarding the impact of stress on the development of psychopathology in the 22q11DS population. En ligne : https://dx.doi.org/10.1186/s11689-020-09333-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method [texte imprimé] / Maude SCHNEIDER, Auteur ; Thomas VAESSEN, Auteur ; Esther D.A. VAN DUIN, Auteur ; Zuzana KASANOVA, Auteur ; Wolfgang VIECHTBAUER, Auteur ; Ulrich REININGHAUS, Auteur ; Claudia VINGERHOETS, Auteur ; Jan BOOIJ, Auteur ; Ann SWILLEN, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Thérèse VAN AMELSVOORT, Auteur ; Inez MYIN-GERMEYS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Adult  DiGeorge Syndrome  Ecological Momentary Assessment  Humans  Mental Disorders  Psychotic Disorders/complications  Stress, Psychological/complications  22q11.2 deletion syndrome  Experience sampling method  Momentary psychotic experiences  Negative affect  Positive affect  Stress reactivity Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with an increased risk of psychiatric disorders. Vulnerability for psychopathology has been related to an increased reactivity to stress. Here, we examined affective states, perceived stress, affective and psychotic reactivity to various sources of environmental stress using the experience sampling method (ESM), a structured diary technique allowing repeated assessments in the context of daily life. METHODS: Adults with 22q11DS (n = 31; age, 34.1 years) and matched healthy controls (HCs; n = 24; age, 39.9 years) were included. ESM was used to assess affective states, perceived stress, and stress reactivity. Data were analyzed using multilevel regression models. RESULTS: Adults with 22q11DS displayed overall higher levels of negative affect but comparable levels of positive affect compared to HCs. Higher levels of perceived stress were reported by individuals with 22q11DS. Comparable affective and psychotic reactivity in relation to all types of environmental stress was observed between the two groups. CONCLUSION: The results point toward higher levels of negative affect and differences in the perception of daily hassles in 22q11DS but no difference in affective or psychotic reactivity to stress. This study contributes to the growing literature regarding the impact of stress on the development of psychopathology in the 22q11DS population. En ligne : https://dx.doi.org/10.1186/s11689-020-09333-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study / Chaira SERRARENS in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study Type de document : texte imprimé Auteurs : Chaira SERRARENS, Auteur ; Maarten OTTER, Auteur ; Bea C.M. CAMPFORTS, Auteur ; Constance T.R.M. STUMPEL, Auteur ; Henk JANSMA, Auteur ; Therese A.M.J. VAN AMELSVOORT, Auteur ; Claudia VINGERHOETS, Auteur Langues : Anglais (eng) Mots-clés : Adult  Brain/pathology  Chromosomes, Human, X  Female  Humans  Magnetic Resonance Imaging/methods  Sex Chromosome Aberrations  Sex Chromosome Disorders of Sex Development/pathology  Trisomy  47,xxx  7t  Adults  Cortical folding  Cortical surface area  Cortical thickness  Social cognition  Social functioning  Subcortical volume Index. décimale : PER Périodiques Résumé : BACKGROUND: Triple X syndrome (47,XXX) is a relatively common sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome in females and has been associated with a variable cognitive, behavioural and psychiatric phenotype. 47,XXX may serve as a suitable model for studying the effect of genetic architecture on brain morphology. Previous studies have shown alterations in brain structure in 47,XXX particularly in childhood and adolescence. In this study, we examined subcortical and cortical brain morphology in adult women with 47,XXX using ultra-high field 7T MRI. Given previous evidence of impaired social functioning and emotion recognition in adults with 47,XXX, we also investigated the relationship of these functions with brain morphology. METHODS: Twenty-one adult women with 47,XXX and 22 age- and sex-matched healthy controls were included. Structural T1-weighted images were acquired using a 7-Tesla magnetic resonance scanner. Measures of subcortical brain volumes, cortical surface area and thickness, and cortical folding were obtained and compared between the groups using general linear models. Additionally, we examined potential relationships between brain outcome measures and social functioning and social cognition in 47,XXX using correlation analyses. RESULTS: Adults with 47,XXX showed lower volumes of the thalamus, caudate, putamen, hippocampus, nucleus accumbens and pallidum, and larger lateral ventricle volumes. Lower surface area was found in the superior frontal gyrus and superior temporal gyrus in 47,XXX participants compared to healthy controls. Altered cortical thickness and cortical folding were not present in 47,XXX. Cortical thickness was associated with social cognition in 47,XXX. CONCLUSIONS: Results suggest that a supernumerary X chromosome in females affects subcortical and lateral ventricle volumes, and cortical surface area in adulthood. 47,XXX may serve as a suitable model for studying genetic influences on structural brain morphology across developmental stages in order to understand neurobiological mechanisms underlying cognitive and behavioural impairments. En ligne : https://dx.doi.org/10.1186/s11689-022-09425-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study [texte imprimé] / Chaira SERRARENS, Auteur ; Maarten OTTER, Auteur ; Bea C.M. CAMPFORTS, Auteur ; Constance T.R.M. STUMPEL, Auteur ; Henk JANSMA, Auteur ; Therese A.M.J. VAN AMELSVOORT, Auteur ; Claudia VINGERHOETS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adult  Brain/pathology  Chromosomes, Human, X  Female  Humans  Magnetic Resonance Imaging/methods  Sex Chromosome Aberrations  Sex Chromosome Disorders of Sex Development/pathology  Trisomy  47,xxx  7t  Adults  Cortical folding  Cortical surface area  Cortical thickness  Social cognition  Social functioning  Subcortical volume Index. décimale : PER Périodiques Résumé : BACKGROUND: Triple X syndrome (47,XXX) is a relatively common sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome in females and has been associated with a variable cognitive, behavioural and psychiatric phenotype. 47,XXX may serve as a suitable model for studying the effect of genetic architecture on brain morphology. Previous studies have shown alterations in brain structure in 47,XXX particularly in childhood and adolescence. In this study, we examined subcortical and cortical brain morphology in adult women with 47,XXX using ultra-high field 7T MRI. Given previous evidence of impaired social functioning and emotion recognition in adults with 47,XXX, we also investigated the relationship of these functions with brain morphology. METHODS: Twenty-one adult women with 47,XXX and 22 age- and sex-matched healthy controls were included. Structural T1-weighted images were acquired using a 7-Tesla magnetic resonance scanner. Measures of subcortical brain volumes, cortical surface area and thickness, and cortical folding were obtained and compared between the groups using general linear models. Additionally, we examined potential relationships between brain outcome measures and social functioning and social cognition in 47,XXX using correlation analyses. RESULTS: Adults with 47,XXX showed lower volumes of the thalamus, caudate, putamen, hippocampus, nucleus accumbens and pallidum, and larger lateral ventricle volumes. Lower surface area was found in the superior frontal gyrus and superior temporal gyrus in 47,XXX participants compared to healthy controls. Altered cortical thickness and cortical folding were not present in 47,XXX. Cortical thickness was associated with social cognition in 47,XXX. CONCLUSIONS: Results suggest that a supernumerary X chromosome in females affects subcortical and lateral ventricle volumes, and cortical surface area in adulthood. 47,XXX may serve as a suitable model for studying genetic influences on structural brain morphology across developmental stages in order to understand neurobiological mechanisms underlying cognitive and behavioural impairments. En ligne : https://dx.doi.org/10.1186/s11689-022-09425-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review / Amy L. SYLVESTER in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review Type de document : texte imprimé Auteurs : Amy L. SYLVESTER, Auteur ; Eva HENSENNE, Auteur ; Dimo IVANOV, Auteur ; Benedikt A. POSER, Auteur ; David E.J. LINDEN, Auteur ; Thérèse VAN AMELSVOORT, Auteur ; Claudia VINGERHOETS, Auteur Langues : Anglais (eng) Mots-clés : Humans  DNA Copy Number Variations/genetics  Neurodevelopmental Disorders/genetics/physiopathology  Neural Inhibition/physiology  Copy number variation  Excitation  Glutamate  Inhibition  Neurodevelopmental disorders  γ-aminobutyric acid  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes - phenotypically heterogeneous genetic disorders, present in a minority of the population. Recent models suggest that a disruption in the balance between excitatory and inhibitory neural activity may contribute to the aetiology of neurodevelopmental disorders, and may be additionally disturbed in copy number variant syndromes. In this systematic review, the databases PubMed, Embase, and Scopus were searched for studies of excitation/inhibition imbalance in relation to neurodevelopmental disorders in human copy number variant samples. A total of 53 studies were included, representing a variety of copy number variants and research methodologies. The resulting data suggests excitation/inhibition balance is indeed disrupted in different copy number variant populations, providing insight into a putative mechanism of both idiopathic and genetic neurodevelopmental disorders. However, the high level of heterogeneity in the data set, alongside emerging techniques for excitation/inhibition assessment, prompts further investigation of this field. En ligne : https://dx.doi.org/10.1186/s11689-025-09614-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review [texte imprimé] / Amy L. SYLVESTER, Auteur ; Eva HENSENNE, Auteur ; Dimo IVANOV, Auteur ; Benedikt A. POSER, Auteur ; David E.J. LINDEN, Auteur ; Thérèse VAN AMELSVOORT, Auteur ; Claudia VINGERHOETS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  DNA Copy Number Variations/genetics  Neurodevelopmental Disorders/genetics/physiopathology  Neural Inhibition/physiology  Copy number variation  Excitation  Glutamate  Inhibition  Neurodevelopmental disorders  γ-aminobutyric acid  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes - phenotypically heterogeneous genetic disorders, present in a minority of the population. Recent models suggest that a disruption in the balance between excitatory and inhibitory neural activity may contribute to the aetiology of neurodevelopmental disorders, and may be additionally disturbed in copy number variant syndromes. In this systematic review, the databases PubMed, Embase, and Scopus were searched for studies of excitation/inhibition imbalance in relation to neurodevelopmental disorders in human copy number variant samples. A total of 53 studies were included, representing a variety of copy number variants and research methodologies. The resulting data suggests excitation/inhibition balance is indeed disrupted in different copy number variant populations, providing insight into a putative mechanism of both idiopathic and genetic neurodevelopmental disorders. However, the high level of heterogeneity in the data set, alongside emerging techniques for excitation/inhibition assessment, prompts further investigation of this field. En ligne : https://dx.doi.org/10.1186/s11689-025-09614-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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