49 recherche sur le mot-clé 'Middle Aged'

Functional connectivity within an anxiety network and associations with anxiety symptom severity in middle-aged adults with and without autism / R. TUNG in Autism Research, 14-10 (October 2021)  

Public ISBD [article]  inAutism Research > 14-10 (October 2021) . - p.2100-2112 Titre : Functional connectivity within an anxiety network and associations with anxiety symptom severity in middle-aged adults with and without autism Type de document : Texte imprimé et/ou numérique Auteurs : R. TUNG, Auteur ; M. A. REITER, Auteur ; A. LINKE, Auteur ; J. S. KOHLI, Auteur ; M. K. KINNEAR, Auteur ; R. A. MULLER, Auteur ; Ruth A. CARPER, Auteur Article en page(s) : p.2100-2112 Langues : Anglais (eng) Mots-clés : Adult  Anxiety/complications/diagnostic imaging  Autism Spectrum Disorder/complications/diagnostic imaging  Autistic Disorder/complications/diagnostic imaging  Brain/diagnostic imaging  Brain Mapping  Humans  Magnetic Resonance Imaging  Male  Middle Aged  Neural Pathways/diagnostic imaging  Asd  adults  anxiety  autism  functional connectivity  resting state fMRI Index. décimale : PER Périodiques Résumé : Anxiety is highly prevalent in autism spectrum disorders (ASDs). However, few functional magnetic resonance imaging (fMRI) studies of ASDs have focused on anxiety (and fewer still on anxiety in middle-aged adults). Thus, relationships between atypical connectivity and anxiety in this population are poorly understood. The current study contrasted functional connectivity within anxiety network regions across adults (40-64?years) with and without autism, and tested for group by functional connectivity interactions on anxiety. Twenty-two adults with ASDs (16 males) and 26 typical control (TC) adults (22 males) completed the Beck Anxiety Inventory and a resting-state fMRI scan. An anxiety network consisting of 12 regions of interest was defined, based on a meta-analysis in TC individuals and two studies on anxiety in ASDs. We tested for main effects of group and group by anxiety interactions on connectivity within this anxiety network, controlling for head motion using ANCOVA. Results are reported at an FDR adjusted threshold of q? En ligne : http://dx.doi.org/10.1002/aur.2579 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Functional connectivity within an anxiety network and associations with anxiety symptom severity in middle-aged adults with and without autism [Texte imprimé et/ou numérique] / R. TUNG, Auteur ; M. A. REITER, Auteur ; A. LINKE, Auteur ; J. S. KOHLI, Auteur ; M. K. KINNEAR, Auteur ; R. A. MULLER, Auteur ; Ruth A. CARPER, Auteur . - p.2100-2112. Langues : Anglais (eng) in Autism Research > 14-10 (October 2021) . - p.2100-2112 Mots-clés : Adult  Anxiety/complications/diagnostic imaging  Autism Spectrum Disorder/complications/diagnostic imaging  Autistic Disorder/complications/diagnostic imaging  Brain/diagnostic imaging  Brain Mapping  Humans  Magnetic Resonance Imaging  Male  Middle Aged  Neural Pathways/diagnostic imaging  Asd  adults  anxiety  autism  functional connectivity  resting state fMRI Index. décimale : PER Périodiques Résumé : Anxiety is highly prevalent in autism spectrum disorders (ASDs). However, few functional magnetic resonance imaging (fMRI) studies of ASDs have focused on anxiety (and fewer still on anxiety in middle-aged adults). Thus, relationships between atypical connectivity and anxiety in this population are poorly understood. The current study contrasted functional connectivity within anxiety network regions across adults (40-64?years) with and without autism, and tested for group by functional connectivity interactions on anxiety. Twenty-two adults with ASDs (16 males) and 26 typical control (TC) adults (22 males) completed the Beck Anxiety Inventory and a resting-state fMRI scan. An anxiety network consisting of 12 regions of interest was defined, based on a meta-analysis in TC individuals and two studies on anxiety in ASDs. We tested for main effects of group and group by anxiety interactions on connectivity within this anxiety network, controlling for head motion using ANCOVA. Results are reported at an FDR adjusted threshold of q? En ligne : http://dx.doi.org/10.1002/aur.2579 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

Transcallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years / Danielle CHRISTENSEN ; Jingying WANG ; Desirae J SHIRLEY ; Ann-Marie ORLANDO ; Regilda A ROMERO ; David E VAILLANCOURT ; Bradley J WILKES ; Stephen A COOMBES ; Zheng WANG in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 16 Titre : Transcallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years Type de document : Texte imprimé et/ou numérique Auteurs : Danielle CHRISTENSEN, Auteur ; Jingying WANG, Auteur ; Desirae J SHIRLEY, Auteur ; Ann-Marie ORLANDO, Auteur ; Regilda A ROMERO, Auteur ; David E VAILLANCOURT, Auteur ; Bradley J WILKES, Auteur ; Stephen A COOMBES, Auteur ; Zheng WANG, Auteur Article en page(s) : 16 Langues : Anglais (eng) Mots-clés : Humans  Male  Gray Matter/diagnostic imaging/pathology  White Matter/diagnostic imaging/pathology  Female  Adult  Middle Aged  Aged  Case-Control Studies  Autistic Disorder/diagnostic imaging/pathology  Corpus Callosum/diagnostic imaging/pathology  Autism Spectrum Disorder/diagnostic imaging/pathology  Anisotropy  Diffusion Magnetic Resonance Imaging  Aging  Autism spectrum disorder  Autistic adults  Diffusion MRI  Free water  Free water corrected fractional anisotropy  Free water corrected mean diffusivity  Gray matter  Transcallosal tracts  White matter  in this study were approved by the Institutional Review Board (IRB) at the  University of Florida following the Declaration of Helsinki. The IRB number is  202100659, with an approval date of July 26, 2022. Consent for publication: All  authors have read and approved the submission. Competing interests: The authors  declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a lifelong condition that profoundly impacts health, independence, and quality of life. However, research on brain aging in autistic adults is limited, and microstructural variations in white and gray matter remain poorly understood. To address this critical gap, we assessed novel diffusion MRI (dMRI) biomarkers, free water, and free water corrected fractional anisotropy (fwcFA), and mean diffusivity (fwcMD) across 32 transcallosal tracts and their corresponding homotopic grey matter origin/endpoint regions of interest (ROIs) in middle and old aged autistic adults. METHODS: Forty-three autistic adults aged 30-73 and 43 age-, sex-, and IQ-matched neurotypical controls underwent dMRI scans. We examined free water, fwcFA, fwcMD differences between the two groups and age-related pattern of each dMRI metric across the whole brain for each group. The relationships between clinical measures of ASD and free water in regions that significantly differentiated autistic adults from neurotypical controls were also explored. In supplementary analyses, we also assessed free water uncorrected FA and MD using conventional single tensor modeling. RESULTS: Autistic adults exhibited significantly elevated free water in seven frontal transcallosal tracts compared to controls. In controls, age-related increases in free water and decreases in fwcFA were observed across most transcallosal tracts. However, these age-associated patterns were entirely absent in autistic adults. In gray matter, autistic adults showed elevated free water in the calcarine cortices and lower fwcMD in the dorsal premotor cortices compared to controls. Lastly, age-related increases in free water were found across all white matter and gray matter ROIs in neurotypical controls, whereas no age-related associations were detected in any dMRI metrics for autistic adults. LIMITATIONS: We only recruited cognitively capable autistic adults, which limits the generalizability of our findings across the full autism spectrum. The cross-sectional design precludes inferences about microstructural changes over time in middle and old aged autistic adults. CONCLUSIONS: Our findings revealed increased free water load in frontal white matter in autistic adults and identified distinct age-associated microstructural variations between the two groups. These findings highlight more heterogeneous brain aging profiles in autistic adults. Our study also demonstrated the importance of quantifying free water in dMRI studies of ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00652-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Transcallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years [Texte imprimé et/ou numérique] / Danielle CHRISTENSEN, Auteur ; Jingying WANG, Auteur ; Desirae J SHIRLEY, Auteur ; Ann-Marie ORLANDO, Auteur ; Regilda A ROMERO, Auteur ; David E VAILLANCOURT, Auteur ; Bradley J WILKES, Auteur ; Stephen A COOMBES, Auteur ; Zheng WANG, Auteur . - 16. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 16 Mots-clés : Humans  Male  Gray Matter/diagnostic imaging/pathology  White Matter/diagnostic imaging/pathology  Female  Adult  Middle Aged  Aged  Case-Control Studies  Autistic Disorder/diagnostic imaging/pathology  Corpus Callosum/diagnostic imaging/pathology  Autism Spectrum Disorder/diagnostic imaging/pathology  Anisotropy  Diffusion Magnetic Resonance Imaging  Aging  Autism spectrum disorder  Autistic adults  Diffusion MRI  Free water  Free water corrected fractional anisotropy  Free water corrected mean diffusivity  Gray matter  Transcallosal tracts  White matter  in this study were approved by the Institutional Review Board (IRB) at the  University of Florida following the Declaration of Helsinki. The IRB number is  202100659, with an approval date of July 26, 2022. Consent for publication: All  authors have read and approved the submission. Competing interests: The authors  declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a lifelong condition that profoundly impacts health, independence, and quality of life. However, research on brain aging in autistic adults is limited, and microstructural variations in white and gray matter remain poorly understood. To address this critical gap, we assessed novel diffusion MRI (dMRI) biomarkers, free water, and free water corrected fractional anisotropy (fwcFA), and mean diffusivity (fwcMD) across 32 transcallosal tracts and their corresponding homotopic grey matter origin/endpoint regions of interest (ROIs) in middle and old aged autistic adults. METHODS: Forty-three autistic adults aged 30-73 and 43 age-, sex-, and IQ-matched neurotypical controls underwent dMRI scans. We examined free water, fwcFA, fwcMD differences between the two groups and age-related pattern of each dMRI metric across the whole brain for each group. The relationships between clinical measures of ASD and free water in regions that significantly differentiated autistic adults from neurotypical controls were also explored. In supplementary analyses, we also assessed free water uncorrected FA and MD using conventional single tensor modeling. RESULTS: Autistic adults exhibited significantly elevated free water in seven frontal transcallosal tracts compared to controls. In controls, age-related increases in free water and decreases in fwcFA were observed across most transcallosal tracts. However, these age-associated patterns were entirely absent in autistic adults. In gray matter, autistic adults showed elevated free water in the calcarine cortices and lower fwcMD in the dorsal premotor cortices compared to controls. Lastly, age-related increases in free water were found across all white matter and gray matter ROIs in neurotypical controls, whereas no age-related associations were detected in any dMRI metrics for autistic adults. LIMITATIONS: We only recruited cognitively capable autistic adults, which limits the generalizability of our findings across the full autism spectrum. The cross-sectional design precludes inferences about microstructural changes over time in middle and old aged autistic adults. CONCLUSIONS: Our findings revealed increased free water load in frontal white matter in autistic adults and identified distinct age-associated microstructural variations between the two groups. These findings highlight more heterogeneous brain aging profiles in autistic adults. Our study also demonstrated the importance of quantifying free water in dMRI studies of ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00652-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Age differences in broader autism phenotype traits from young adulthood to older adulthood / W. J. CHOPIK in Autism Research, 14-7 (July 2021)  

Public ISBD [article]  inAutism Research > 14-7 (July 2021) . - p.1456-1471 Titre : Age differences in broader autism phenotype traits from young adulthood to older adulthood Type de document : Texte imprimé et/ou numérique Auteurs : W. J. CHOPIK, Auteur ; J. OH, Auteur ; A. K. NUTTALL, Auteur ; K. N. THAKKAR, Auteur ; Brooke R. INGERSOLL, Auteur Article en page(s) : p.1456-1471 Langues : Anglais (eng) Mots-clés : Adult  Aged  Autism Spectrum Disorder  Autistic Disorder  Cross-Sectional Studies  Female  Humans  Male  Middle Aged  Phenotype  Surveys and Questionnaires  Young Adult  age differences  autism spectrum disorders  broader autism phenotype  lifespan development  personality Index. décimale : PER Périodiques Résumé : Much of past research has been dedicated to refining the operationalization and correlates of the broader autism phenotype (BAP) and less on how the BAP differs by socio-demographic characteristics, like age-particularly after midlife. This gap is important because other nonclinical trait-like characteristics (e.g., personality) have shown considerable age differences, leading to work assessing the malleability of psychological characteristics and improving outcomes for individuals and their significant others. In the current study, we examined cross-sectional age differences in the BAP in a large sample of adults ranging in age from 18 to 85. We recruited a sample of 2966 adults ranging in age from 18 to 85 (M(age) = 36.53, SD = 12.61; 58.9% Female; 1.1% with an ASD diagnosis) recruited from an online survey service. We found that total BAP scores were higher in younger adults and lower among older adults. These differences were particularly true for pragmatic language difficulties, with this component of the BAP showing the most dramatic age differences. Aloofness showed similar negative associations with age, albeit much smaller. Rigidity was not significantly associated with age. The results are consistent with other research showing an abatement of symptoms among individuals with autism spectrum disorders (ASDs) across early life and theories predicting changes in other psychological characteristics (e.g., personality). The results are discussed in the context of the malleability of ASD and BAP traits across life, the clinical implications of these changes, and the origins and consequences for lifespan differences in BAP. LAY SUMMARY: Little is known about how subclinical autistic-like traits among middle-aged and older adults compare to younger adults. We found that these subclinical traits were highest in young adults and lowest in older adults. Knowing how these traits differ by age can provide researchers and clinicians with a sense of how much these traits might change across life, if the traits might be sensitive to interventions, and when in development it might be best to intervene. En ligne : http://dx.doi.org/10.1002/aur.2504 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Age differences in broader autism phenotype traits from young adulthood to older adulthood [Texte imprimé et/ou numérique] / W. J. CHOPIK, Auteur ; J. OH, Auteur ; A. K. NUTTALL, Auteur ; K. N. THAKKAR, Auteur ; Brooke R. INGERSOLL, Auteur . - p.1456-1471. Langues : Anglais (eng) in Autism Research > 14-7 (July 2021) . - p.1456-1471 Mots-clés : Adult  Aged  Autism Spectrum Disorder  Autistic Disorder  Cross-Sectional Studies  Female  Humans  Male  Middle Aged  Phenotype  Surveys and Questionnaires  Young Adult  age differences  autism spectrum disorders  broader autism phenotype  lifespan development  personality Index. décimale : PER Périodiques Résumé : Much of past research has been dedicated to refining the operationalization and correlates of the broader autism phenotype (BAP) and less on how the BAP differs by socio-demographic characteristics, like age-particularly after midlife. This gap is important because other nonclinical trait-like characteristics (e.g., personality) have shown considerable age differences, leading to work assessing the malleability of psychological characteristics and improving outcomes for individuals and their significant others. In the current study, we examined cross-sectional age differences in the BAP in a large sample of adults ranging in age from 18 to 85. We recruited a sample of 2966 adults ranging in age from 18 to 85 (M(age) = 36.53, SD = 12.61; 58.9% Female; 1.1% with an ASD diagnosis) recruited from an online survey service. We found that total BAP scores were higher in younger adults and lower among older adults. These differences were particularly true for pragmatic language difficulties, with this component of the BAP showing the most dramatic age differences. Aloofness showed similar negative associations with age, albeit much smaller. Rigidity was not significantly associated with age. The results are consistent with other research showing an abatement of symptoms among individuals with autism spectrum disorders (ASDs) across early life and theories predicting changes in other psychological characteristics (e.g., personality). The results are discussed in the context of the malleability of ASD and BAP traits across life, the clinical implications of these changes, and the origins and consequences for lifespan differences in BAP. LAY SUMMARY: Little is known about how subclinical autistic-like traits among middle-aged and older adults compare to younger adults. We found that these subclinical traits were highest in young adults and lowest in older adults. Knowing how these traits differ by age can provide researchers and clinicians with a sense of how much these traits might change across life, if the traits might be sensitive to interventions, and when in development it might be best to intervene. En ligne : http://dx.doi.org/10.1002/aur.2504 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Age-related changes in brain signal variability in autism spectrum disorder / Nicholas KATHREIN ; Elijah GRAGAS ; Lauren KUPIS ; Lucina Q UDDIN ; Jason S NOMI in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 8 Titre : Age-related changes in brain signal variability in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Nicholas KATHREIN, Auteur ; Elijah GRAGAS, Auteur ; Lauren KUPIS, Auteur ; Lucina Q UDDIN, Auteur ; Jason S NOMI, Auteur Article en page(s) : 8 Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Brain/diagnostic imaging/physiopathology  Male  Adult  Female  Adolescent  Child  Magnetic Resonance Imaging  Middle Aged  Young Adult  Child, Preschool  Cross-Sectional Studies  Age Factors  Aging  Brain Mapping  Asd  Age  Brain-behavior relationships  Mean square successive difference  Resting-state fMRI  contributions were based on studies approved by the local Institutional Review  Boards, and all have approved both the initial data collection and the sharing of  fully anonymized data (removing face information from structural images and all  18 Health Insurance Portability and Accountability (HIPAA)-protected health  information identifiers). The written informed consent was obtained from all  subjects. Detailed information on ethical statements for ABIDE can be found at  http://fcon_1000.projects.nitrc.org/indi/abide/. Consent for publication: Not  applicable. Competing interests: The authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Brain signal variability (BSV) is an important understudied aspect of brain function linked to cognitive flexibility and adaptive behavior. Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication difficulties and restricted and repetitive behaviors (RRBs). While atypical brain function has been identified in individuals with ASD using fMRI task-activation and functional connectivity approaches, little is known about age-related relationships with resting-state BSV and repetitive behaviors in ASD. METHODS: We conducted a cross-sectional examination of resting-state BSV and its relationship with age and RRBs in a cohort of individuals with Autism Brain Imaging Data Exchange (n = 351) and typically developing (TD) individuals (n = 402) aged 5-50 years obtained from the Autism Brain Imaging Data Exchange. RRBs were assessed using the Autism Diagnostic Interview-Revised (ADI-RRB) scale. BSV was quantified using the root-mean-square successive difference (rMSSD) of the resting-state fMRI time series. We examined categorical group differences in rMSSD between ASD and TD groups, controlling for both linear and quadratic age. To identify dimensional relationships between age, group, and rMSSD, we utilized interaction regressors for group x age and group x quadratic age. Within a subset of individuals with ASD (269 subjects), we explored the relationship between rMSSD and ADI-RRB scores, both with and without age considerations. The relationship between rMSSD and ADI-RRB scores was further analyzed while accounting for linear and quadratic age. Additionally, we investigated the relationship between BSV, age, and ADI-RRB scores using interaction regressors for age x RRB and quadratic age x RRB. RESULTS: When controlling for linear age effects, we observed significant group differences between individuals with ASD and TD individuals in the default-mode network (DMN) and visual network, with decreased BSV in ASD. Similarly, controlling for quadratic age effects revealed significant group differences in the DMN and visual network. In both cases, individuals with ASD showed decreased BSV compared with TD individuals in these brain regions. The group * age interaction demonstrated significant group differences in the DMN, and visual network brain areas, indicating that rMSSD was greater in older individuals compared with younger individuals in the ASD group, while rMSSD was greater in younger individuals compared with older individuals in the TD group. The group * quadratic age interaction showed significant differences in the brain regions included in DMN, with an inverted U-shaped rMSSD-age relationship in ASD (higher rMSSD in younger individuals that slightly increased into middle age before decreasing) and a U-shaped rMSSD-age relationship in TD (higher rMSSD in younger and older individuals compared with middle-aged individuals). When controlling for linear and quadratic age effects, we found a significant positive association between rMSSD and ADI-RRB scores in brain regions within the DMN, salience, and visual network. While no significant results were observed for the linear age * RRB interaction, a significant association between quadratic age and ADI-RRB scores emerged in the DMN, dorsal attention network, and sensorimotor network. Individuals with high ADI-RRB scores exhibited an inverted U-shaped relationship between rMSSD and age, with lower rMSSD levels observed in both younger and older individuals, and higher rMSSD in middle-aged individuals. Those with mid-range ADI-RRB scores displayed a weak inverted U-shaped rMSSD-age association. In contrast, individuals with low ADI-RRB scores showed a U-shaped rMSSD-age association, with higher rMSSD levels in younger and older individuals, but a lower rMSSD in middle-aged individuals. CONCLUSION: These findings highlight age-related atypical BSV patterns in ASD and their association with repetitive behaviors, contributing to the growing literature on understanding alterations in functional brain maturation in ASD. En ligne : https://dx.doi.org/10.1186/s13229-024-00631-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Age-related changes in brain signal variability in autism spectrum disorder [Texte imprimé et/ou numérique] / Nicholas KATHREIN, Auteur ; Elijah GRAGAS, Auteur ; Lauren KUPIS, Auteur ; Lucina Q UDDIN, Auteur ; Jason S NOMI, Auteur . - 8. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 8 Mots-clés : Humans  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Brain/diagnostic imaging/physiopathology  Male  Adult  Female  Adolescent  Child  Magnetic Resonance Imaging  Middle Aged  Young Adult  Child, Preschool  Cross-Sectional Studies  Age Factors  Aging  Brain Mapping  Asd  Age  Brain-behavior relationships  Mean square successive difference  Resting-state fMRI  contributions were based on studies approved by the local Institutional Review  Boards, and all have approved both the initial data collection and the sharing of  fully anonymized data (removing face information from structural images and all  18 Health Insurance Portability and Accountability (HIPAA)-protected health  information identifiers). The written informed consent was obtained from all  subjects. Detailed information on ethical statements for ABIDE can be found at  http://fcon_1000.projects.nitrc.org/indi/abide/. Consent for publication: Not  applicable. Competing interests: The authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Brain signal variability (BSV) is an important understudied aspect of brain function linked to cognitive flexibility and adaptive behavior. Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication difficulties and restricted and repetitive behaviors (RRBs). While atypical brain function has been identified in individuals with ASD using fMRI task-activation and functional connectivity approaches, little is known about age-related relationships with resting-state BSV and repetitive behaviors in ASD. METHODS: We conducted a cross-sectional examination of resting-state BSV and its relationship with age and RRBs in a cohort of individuals with Autism Brain Imaging Data Exchange (n = 351) and typically developing (TD) individuals (n = 402) aged 5-50 years obtained from the Autism Brain Imaging Data Exchange. RRBs were assessed using the Autism Diagnostic Interview-Revised (ADI-RRB) scale. BSV was quantified using the root-mean-square successive difference (rMSSD) of the resting-state fMRI time series. We examined categorical group differences in rMSSD between ASD and TD groups, controlling for both linear and quadratic age. To identify dimensional relationships between age, group, and rMSSD, we utilized interaction regressors for group x age and group x quadratic age. Within a subset of individuals with ASD (269 subjects), we explored the relationship between rMSSD and ADI-RRB scores, both with and without age considerations. The relationship between rMSSD and ADI-RRB scores was further analyzed while accounting for linear and quadratic age. Additionally, we investigated the relationship between BSV, age, and ADI-RRB scores using interaction regressors for age x RRB and quadratic age x RRB. RESULTS: When controlling for linear age effects, we observed significant group differences between individuals with ASD and TD individuals in the default-mode network (DMN) and visual network, with decreased BSV in ASD. Similarly, controlling for quadratic age effects revealed significant group differences in the DMN and visual network. In both cases, individuals with ASD showed decreased BSV compared with TD individuals in these brain regions. The group * age interaction demonstrated significant group differences in the DMN, and visual network brain areas, indicating that rMSSD was greater in older individuals compared with younger individuals in the ASD group, while rMSSD was greater in younger individuals compared with older individuals in the TD group. The group * quadratic age interaction showed significant differences in the brain regions included in DMN, with an inverted U-shaped rMSSD-age relationship in ASD (higher rMSSD in younger individuals that slightly increased into middle age before decreasing) and a U-shaped rMSSD-age relationship in TD (higher rMSSD in younger and older individuals compared with middle-aged individuals). When controlling for linear and quadratic age effects, we found a significant positive association between rMSSD and ADI-RRB scores in brain regions within the DMN, salience, and visual network. While no significant results were observed for the linear age * RRB interaction, a significant association between quadratic age and ADI-RRB scores emerged in the DMN, dorsal attention network, and sensorimotor network. Individuals with high ADI-RRB scores exhibited an inverted U-shaped relationship between rMSSD and age, with lower rMSSD levels observed in both younger and older individuals, and higher rMSSD in middle-aged individuals. Those with mid-range ADI-RRB scores displayed a weak inverted U-shaped rMSSD-age association. In contrast, individuals with low ADI-RRB scores showed a U-shaped rMSSD-age association, with higher rMSSD levels in younger and older individuals, but a lower rMSSD in middle-aged individuals. CONCLUSION: These findings highlight age-related atypical BSV patterns in ASD and their association with repetitive behaviors, contributing to the growing literature on understanding alterations in functional brain maturation in ASD. En ligne : https://dx.doi.org/10.1186/s13229-024-00631-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / T. L. WENGER in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 27p. Titre : 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening Type de document : Texte imprimé et/ou numérique Auteurs : T. L. WENGER, Auteur ; J. S. MILLER, Auteur ; L. M. DEPOLO, Auteur ; A. B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; B. S. EMANUEL, Auteur ; E. H. ZACKAI, Auteur ; D. M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening [Texte imprimé et/ou numérique] / T. L. WENGER, Auteur ; J. S. MILLER, Auteur ; L. M. DEPOLO, Auteur ; A. B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; B. S. EMANUEL, Auteur ; E. H. ZACKAI, Auteur ; D. M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 27p. Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

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