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

Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion / Jente VERBESSELT in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion Type de document : texte imprimé Auteurs : Jente VERBESSELT, Auteur ; Jeroen BRECKPOT, Auteur ; Inge ZINK, Auteur ; Ann SWILLEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Adolescent  Female  Male  Chromosomes, Human, Pair 16/genetics  Child, Preschool  Intellectual Disability/physiopathology/genetics  Longitudinal Studies  Chromosome Deletion  Chromosome Disorders/physiopathology/complications/genetics  Intelligence  Cognition/physiology  Child Development/physiology  Developmental Disabilities/genetics/physiopathology  Fecal Incontinence/physiopathology  Intelligence Tests  Autistic Disorder  16p11.2 deletion syndrome  Cognition  Copy number variants  Deep phenotyping  Developmental trajectories  Early development  in accordance with the Declaration of Helsinki and approved by the Ethics  Committee Research of University Hospitals Leuven (protocol code S54485, 6  December 2012 and 26 March 2021). Patients and their parents were directly  informed about the aims of the research project, and all participants signed  informed consent. Consent for publication: Not applicable. Competing interests:  The authors declare no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS. En ligne : https://dx.doi.org/10.1186/s11689-025-09615-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion [texte imprimé] / Jente VERBESSELT, Auteur ; Jeroen BRECKPOT, Auteur ; Inge ZINK, Auteur ; Ann SWILLEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Child  Adolescent  Female  Male  Chromosomes, Human, Pair 16/genetics  Child, Preschool  Intellectual Disability/physiopathology/genetics  Longitudinal Studies  Chromosome Deletion  Chromosome Disorders/physiopathology/complications/genetics  Intelligence  Cognition/physiology  Child Development/physiology  Developmental Disabilities/genetics/physiopathology  Fecal Incontinence/physiopathology  Intelligence Tests  Autistic Disorder  16p11.2 deletion syndrome  Cognition  Copy number variants  Deep phenotyping  Developmental trajectories  Early development  in accordance with the Declaration of Helsinki and approved by the Ethics  Committee Research of University Hospitals Leuven (protocol code S54485, 6  December 2012 and 26 March 2021). Patients and their parents were directly  informed about the aims of the research project, and all participants signed  informed consent. Consent for publication: Not applicable. Competing interests:  The authors declare no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS. En ligne : https://dx.doi.org/10.1186/s11689-025-09615-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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