15 recherche sur le mot-clé 'interests.'

Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults / Ayaka FUKUOKA in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 31 Titre : Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults Type de document : texte imprimé Auteurs : Ayaka FUKUOKA, Auteur ; Ryo KITADA, Auteur ; Kai MAKITA, Auteur ; Takuya MAKINO, Auteur ; Nodoka SAKAKIHARA, Auteur ; Lauri NUMMENMAA, Auteur ; Hirotaka KOSAKA, Auteur ; Ayaka FUKUOKA, Auteur ; Ryo KITADA, Auteur ; Kai MAKITA, Auteur ; Takuya MAKINO, Auteur ; Nodoka SAKAKIHARA, Auteur ; Lauri NUMMENMAA, Auteur ; Hirotaka KOSAKA, Auteur Article en page(s) : 31 Langues : Anglais (eng) Mots-clés : Humans  Female  Male  Adult  Emotions  Autism Spectrum Disorder/psychology  Middle Aged  Touch  Young Adult  Interpersonal Relations  Autistic Disorder/psychology  Social Behavior  Object Attachment  Emotion  Pleasantness  Social closeness  Social network  Social touch  approved by The Research Ethics Committee of University of Fukui (20210117), and  the Research Ethics Committee at the Graduate School of Intercultural Studies,  Kobe University (2021–2, 2022–4). All methods were carried out in accordance with  the approved guidelines and the Declaration of Helsinki. Each participant in the  main study provided written informed consent after receiving a detailed  explanation of the study, and each participant in the pilot experiment provided  online informed consent. Competing interests: The authors declare no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by social communication deficits, repetitive behaviors and restricted interests. Studies have reported aberrant sensory responses, including altered experiences of social touch, in individuals with ASD. However, the relationship between atypical social touch and social networks in ASD remains poorly understood. Social touch is used to strengthen and manage social networks in many species. Studies in general populations across diverse cultures show that the extent of permissible touch is consistently linked to the strength of emotional bonds between the toucher and the touched individual. This study examined relationship-specific patterns of social touch and their association with emotional bonding in individuals with ASD. METHODS: Seventy adults with ASD and 70 typically developed (TD) adults rated their emotional bonds with different social network members (e.g., partners, fathers, strangers) and the pleasantness of being touched by each. Participants also identified body regions where they allowed touch. We hypothesized that patterns of interpersonal touch allowance and emotional bonding, and their relationship, would differ between ASD and TD adults. RESULT: In all social network members except children and female friends, ASD adults allowed significantly less social touching than TD adults. Compared to TD adults, ASD adults also reported having significantly weaker emotional bonds with one social network member and experiencing significantly less pleasantness when touched by multiple members of their social network. In both groups, strength of emotional bond was significantly correlated with permissible touch area. Linear regression analyses showed that our ASD participants were more reliant on bodily touch allowance for emotional bonding than the TD controls. LIMITATIONS: More participants are necessary to secure sufficient number of social network members in ASD. CONCLUSIONS: Our results suggest that adults with ASD generally prefer less social touch from most social network members and show reduced emotional bonding with only a specific connection. In addition, touch allowance was more strongly associated with emotional bonding in ASD than TD adults. These findings highlight the influence of autistic traits on the relationship between social touch and emotional bonding within social networks. En ligne : https://dx.doi.org/10.1186/s13229-025-00666-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults [texte imprimé] / Ayaka FUKUOKA, Auteur ; Ryo KITADA, Auteur ; Kai MAKITA, Auteur ; Takuya MAKINO, Auteur ; Nodoka SAKAKIHARA, Auteur ; Lauri NUMMENMAA, Auteur ; Hirotaka KOSAKA, Auteur ; Ayaka FUKUOKA, Auteur ; Ryo KITADA, Auteur ; Kai MAKITA, Auteur ; Takuya MAKINO, Auteur ; Nodoka SAKAKIHARA, Auteur ; Lauri NUMMENMAA, Auteur ; Hirotaka KOSAKA, Auteur . - 31. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 31 Mots-clés : Humans  Female  Male  Adult  Emotions  Autism Spectrum Disorder/psychology  Middle Aged  Touch  Young Adult  Interpersonal Relations  Autistic Disorder/psychology  Social Behavior  Object Attachment  Emotion  Pleasantness  Social closeness  Social network  Social touch  approved by The Research Ethics Committee of University of Fukui (20210117), and  the Research Ethics Committee at the Graduate School of Intercultural Studies,  Kobe University (2021–2, 2022–4). All methods were carried out in accordance with  the approved guidelines and the Declaration of Helsinki. Each participant in the  main study provided written informed consent after receiving a detailed  explanation of the study, and each participant in the pilot experiment provided  online informed consent. Competing interests: The authors declare no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by social communication deficits, repetitive behaviors and restricted interests. Studies have reported aberrant sensory responses, including altered experiences of social touch, in individuals with ASD. However, the relationship between atypical social touch and social networks in ASD remains poorly understood. Social touch is used to strengthen and manage social networks in many species. Studies in general populations across diverse cultures show that the extent of permissible touch is consistently linked to the strength of emotional bonds between the toucher and the touched individual. This study examined relationship-specific patterns of social touch and their association with emotional bonding in individuals with ASD. METHODS: Seventy adults with ASD and 70 typically developed (TD) adults rated their emotional bonds with different social network members (e.g., partners, fathers, strangers) and the pleasantness of being touched by each. Participants also identified body regions where they allowed touch. We hypothesized that patterns of interpersonal touch allowance and emotional bonding, and their relationship, would differ between ASD and TD adults. RESULT: In all social network members except children and female friends, ASD adults allowed significantly less social touching than TD adults. Compared to TD adults, ASD adults also reported having significantly weaker emotional bonds with one social network member and experiencing significantly less pleasantness when touched by multiple members of their social network. In both groups, strength of emotional bond was significantly correlated with permissible touch area. Linear regression analyses showed that our ASD participants were more reliant on bodily touch allowance for emotional bonding than the TD controls. LIMITATIONS: More participants are necessary to secure sufficient number of social network members in ASD. CONCLUSIONS: Our results suggest that adults with ASD generally prefer less social touch from most social network members and show reduced emotional bonding with only a specific connection. In addition, touch allowance was more strongly associated with emotional bonding in ASD than TD adults. These findings highlight the influence of autistic traits on the relationship between social touch and emotional bonding within social networks. En ligne : https://dx.doi.org/10.1186/s13229-025-00666-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

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 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] / 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

Brain functional connectivity correlates of autism diagnosis and familial liability in 24-month-olds / John R. Jr PRUETT in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Brain functional connectivity correlates of autism diagnosis and familial liability in 24-month-olds Type de document : texte imprimé Auteurs : John R. Jr PRUETT, Auteur ; Alexandre A. TODOROV, Auteur ; Zoë W. HAWKS, Auteur ; Muhamed TALOVIĆ, Auteur ; Tomoyuki NISHINO, Auteur ; Steven E. PETERSEN, Auteur ; Savannah DAVIS, Auteur ; Lyn STAHL, Auteur ; Kelly N. BOTTERON, Auteur ; John N. CONSTANTINO, Auteur ; Stephen R. DAGER, Auteur ; Jed T. ELISON, Auteur ; Annette M. ESTES, Auteur ; Alan C. EVANS, Auteur ; Guido GERIG, Auteur ; Jessica B. GIRAULT, Auteur ; Heather HAZLETT, Auteur ; Leigh MACINTYRE, Auteur ; Natasha MARRUS, Auteur ; Robert C. MCKINSTRY, Auteur ; Juhi PANDEY, Auteur ; Robert T. SCHULTZ, Auteur ; William D. SHANNON, Auteur ; Mark D. SHEN, Auteur ; Abraham Z. SNYDER, Auteur ; Martin STYNER, Auteur ; Jason J. WOLFF, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Joseph PIVEN, Auteur ; THE IBIS NETWORK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Magnetic Resonance Imaging  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Child, Preschool  Brain/physiopathology/diagnostic imaging  Support Vector Machine  Connectome  Nerve Net/physiopathology/diagnostic imaging  Infant  Siblings  Default mode network  Familial  Functional connectivity  MRI  reviewed and approved by the internal review boards of Washington University  School of Medicine, IRB IDs 201103140 and 201301110, the University of  Washington, IRB IDs 12317 and STUDY00012991, The Children’s Hospital of  Philadelphia, IRB ID 07-005689, and the University of North Carolina at Chapel  Hill, IRB ID 05-2293. Informed consent was signed by all study participants.  Competing interests: Dr. Robert McKinstry serves on the advisory board of Nous  Imaging, Inc. and receives funding for meals and travel from Siemens Healthineers  and Philips Healthcare. Abraham Z. Snyder is a consultant for Sora Neuroscience,  LLC. All other authors report no financial relationships with commercial  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: fcMRI correlates of autism spectrum disorder (ASD) diagnosis and familial liability were studied in 24-month-olds at high (older affected sibling) and low familial likelihood for ASD. METHODS: fcMRI comparisons of high-familial-likelihood (HL) ASD-positive (HLP, N = 23) and ASD-negative (HLN, N = 91), and low-likelihood ASD-negative (LLN, N = 27) 24-month-olds from the Infant Brain Imaging Study (IBIS) Network were conducted, employing object oriented data analysis (OODA), support vector machine (SVM) classification, and network-level fcMRI enrichment analyses. RESULTS: OODA (alpha = 0.0167, 3 comparisons) revealed differences in HLP and LLN fcMRI matrices (p = 0.012), but none for HLP versus HLN (p = 0.047) nor HLN versus LLN (p = 0.225). SVM distinguished HLP from HLN (accuracy = 99%, PPV = 96%, NPV = 100%), based on connectivity involving many networks. SVM accurately classified (non-training) LLN subjects with 100% accuracy. Enrichment analyses identified a cross-group fcMRI difference in the posterior cingulate default mode network 1 (pcDMN1)- temporal default mode network (tDMN) pair (p = 0.0070). Functional connectivity for implicated connections in these networks was consistently lower in HLP and HLN than in LLN (p = 0.0461 and 0.0004). HLP did not differ from HLN (p = 0.2254). Secondary testing showed HL children with low ASD behaviors still differed from LLN (p = 0.0036). CONCLUSIONS: 24-month-old high-familial-likelihood infants show reduced intra-DMN connectivity, a potential neural finding related to familial liability, while widely distributed functional connections correlate with ASD diagnosis. En ligne : https://dx.doi.org/10.1186/s11689-025-09621-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Brain functional connectivity correlates of autism diagnosis and familial liability in 24-month-olds [texte imprimé] / John R. Jr PRUETT, Auteur ; Alexandre A. TODOROV, Auteur ; Zoë W. HAWKS, Auteur ; Muhamed TALOVIĆ, Auteur ; Tomoyuki NISHINO, Auteur ; Steven E. PETERSEN, Auteur ; Savannah DAVIS, Auteur ; Lyn STAHL, Auteur ; Kelly N. BOTTERON, Auteur ; John N. CONSTANTINO, Auteur ; Stephen R. DAGER, Auteur ; Jed T. ELISON, Auteur ; Annette M. ESTES, Auteur ; Alan C. EVANS, Auteur ; Guido GERIG, Auteur ; Jessica B. GIRAULT, Auteur ; Heather HAZLETT, Auteur ; Leigh MACINTYRE, Auteur ; Natasha MARRUS, Auteur ; Robert C. MCKINSTRY, Auteur ; Juhi PANDEY, Auteur ; Robert T. SCHULTZ, Auteur ; William D. SHANNON, Auteur ; Mark D. SHEN, Auteur ; Abraham Z. SNYDER, Auteur ; Martin STYNER, Auteur ; Jason J. WOLFF, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Joseph PIVEN, Auteur ; THE IBIS NETWORK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Male  Female  Magnetic Resonance Imaging  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Child, Preschool  Brain/physiopathology/diagnostic imaging  Support Vector Machine  Connectome  Nerve Net/physiopathology/diagnostic imaging  Infant  Siblings  Default mode network  Familial  Functional connectivity  MRI  reviewed and approved by the internal review boards of Washington University  School of Medicine, IRB IDs 201103140 and 201301110, the University of  Washington, IRB IDs 12317 and STUDY00012991, The Children’s Hospital of  Philadelphia, IRB ID 07-005689, and the University of North Carolina at Chapel  Hill, IRB ID 05-2293. Informed consent was signed by all study participants.  Competing interests: Dr. Robert McKinstry serves on the advisory board of Nous  Imaging, Inc. and receives funding for meals and travel from Siemens Healthineers  and Philips Healthcare. Abraham Z. Snyder is a consultant for Sora Neuroscience,  LLC. All other authors report no financial relationships with commercial  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: fcMRI correlates of autism spectrum disorder (ASD) diagnosis and familial liability were studied in 24-month-olds at high (older affected sibling) and low familial likelihood for ASD. METHODS: fcMRI comparisons of high-familial-likelihood (HL) ASD-positive (HLP, N = 23) and ASD-negative (HLN, N = 91), and low-likelihood ASD-negative (LLN, N = 27) 24-month-olds from the Infant Brain Imaging Study (IBIS) Network were conducted, employing object oriented data analysis (OODA), support vector machine (SVM) classification, and network-level fcMRI enrichment analyses. RESULTS: OODA (alpha = 0.0167, 3 comparisons) revealed differences in HLP and LLN fcMRI matrices (p = 0.012), but none for HLP versus HLN (p = 0.047) nor HLN versus LLN (p = 0.225). SVM distinguished HLP from HLN (accuracy = 99%, PPV = 96%, NPV = 100%), based on connectivity involving many networks. SVM accurately classified (non-training) LLN subjects with 100% accuracy. Enrichment analyses identified a cross-group fcMRI difference in the posterior cingulate default mode network 1 (pcDMN1)- temporal default mode network (tDMN) pair (p = 0.0070). Functional connectivity for implicated connections in these networks was consistently lower in HLP and HLN than in LLN (p = 0.0461 and 0.0004). HLP did not differ from HLN (p = 0.2254). Secondary testing showed HL children with low ASD behaviors still differed from LLN (p = 0.0036). CONCLUSIONS: 24-month-old high-familial-likelihood infants show reduced intra-DMN connectivity, a potential neural finding related to familial liability, while widely distributed functional connections correlate with ASD diagnosis. En ligne : https://dx.doi.org/10.1186/s11689-025-09621-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Charting the future: current and future directions in translational research for individuals with Down syndrome / Katherine A. WAUGH in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Charting the future: current and future directions in translational research for individuals with Down syndrome Type de document : texte imprimé Auteurs : Katherine A. WAUGH, Auteur ; Heather M. WILKINS, Auteur ; Keith P. SMITH, Auteur ; Lauren T. PTOMEY, Auteur Langues : Anglais (eng) Mots-clés : Down Syndrome/therapy/metabolism  Humans  Translational Research, Biomedical/trends  Precision Medicine  Biomarkers  Brain Health  Down syndrome  Intellectual and Developmental Disability  Trisomy 21  for publication: We give consent for the publication of all text, figures, and  tables in this review. Competing interests: The authors declare no competing  interests. Index. décimale : PER Périodiques Résumé : The most common genetic cause of intellectual and developmental disability is trisomy of human chromosome 21 (trisomy 21) or Down syndrome. Relative to the general population, individuals with Down syndrome heterogeneously experience atypical morphogenesis, a distinct neurocognitive profile, and a unique spectrum of diverse medical conditions that impact every major organ system. How trisomy 21 results in the highly variable manifestations of Down syndrome remains largely unknown and an active area of heavy investigation with therapeutic implications. For example, common inflammatory and metabolic signatures have begun to emerge across various co-occurring conditions in Down syndrome with assorted impacts on diverse yet intertwined organ systems that could directly or indirectly impact brain health. Here, we review current progress, resources, knowledge gaps, and bottlenecks for precision medicine approaches to promote brain health across the lifespan among individuals with Down syndrome within the larger context of research efforts geared towards our other distinct yet intertwined organ systems. Within this framework, we advocate for interdisciplinary pursuit of systems-level biomarkers to facilitate holistic intervention strategies that precisely benefit individuals with trisomy 21 each experiencing Down syndrome in their own unique way. To this end, we quantitatively assess clinical studies that are actively recruiting participants with Down syndrome and provide historical context through summary figures sourced to user-friendly tables that have been curated from federal websites to empower efficient exploration of research opportunities for interdisciplinary collaborations. En ligne : https://dx.doi.org/10.1186/s11689-025-09630-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Charting the future: current and future directions in translational research for individuals with Down syndrome [texte imprimé] / Katherine A. WAUGH, Auteur ; Heather M. WILKINS, Auteur ; Keith P. SMITH, Auteur ; Lauren T. PTOMEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Down Syndrome/therapy/metabolism  Humans  Translational Research, Biomedical/trends  Precision Medicine  Biomarkers  Brain Health  Down syndrome  Intellectual and Developmental Disability  Trisomy 21  for publication: We give consent for the publication of all text, figures, and  tables in this review. Competing interests: The authors declare no competing  interests. Index. décimale : PER Périodiques Résumé : The most common genetic cause of intellectual and developmental disability is trisomy of human chromosome 21 (trisomy 21) or Down syndrome. Relative to the general population, individuals with Down syndrome heterogeneously experience atypical morphogenesis, a distinct neurocognitive profile, and a unique spectrum of diverse medical conditions that impact every major organ system. How trisomy 21 results in the highly variable manifestations of Down syndrome remains largely unknown and an active area of heavy investigation with therapeutic implications. For example, common inflammatory and metabolic signatures have begun to emerge across various co-occurring conditions in Down syndrome with assorted impacts on diverse yet intertwined organ systems that could directly or indirectly impact brain health. Here, we review current progress, resources, knowledge gaps, and bottlenecks for precision medicine approaches to promote brain health across the lifespan among individuals with Down syndrome within the larger context of research efforts geared towards our other distinct yet intertwined organ systems. Within this framework, we advocate for interdisciplinary pursuit of systems-level biomarkers to facilitate holistic intervention strategies that precisely benefit individuals with trisomy 21 each experiencing Down syndrome in their own unique way. To this end, we quantitatively assess clinical studies that are actively recruiting participants with Down syndrome and provide historical context through summary figures sourced to user-friendly tables that have been curated from federal websites to empower efficient exploration of research opportunities for interdisciplinary collaborations. En ligne : https://dx.doi.org/10.1186/s11689-025-09630-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Default mode and fronto-parietal network associations with IQ development across childhood in autism / Joshua K. LEE in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Default mode and fronto-parietal network associations with IQ development across childhood in autism Type de document : texte imprimé Auteurs : Joshua K. LEE, Auteur ; An Chuen Billy CHO, Auteur ; Derek S. ANDREWS, Auteur ; Sally OZONOFF, Auteur ; Sally J. ROGERS, Auteur ; David G. AMARAL, Auteur ; Marjorie SOLOMON, Auteur ; Christine Wu NORDAHL, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/diagnostic imaging  Autistic Disorder/diagnostic imaging  Brain/diagnostic imaging  Brain Mapping  Female  Humans  Intellectual Disability/complications  Autism spectrum disorder  Default mode  Fronto-parietal  Iq  Intellectual disability  Longitudinal  MRI  Inc., and Axial Therapeutics. The other authors declare that they have competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability affects approximately one third of individuals with autism spectrum disorder (autism). Yet, a major unresolved neurobiological question is what differentiates autistic individuals with and without intellectual disability. Intelligence quotients (IQs) are highly variable during childhood. We previously identified three subgroups of autistic children with different trajectories of intellectual development from early (2-3½ years) to middle childhood (9-12 years): (a) persistently high: individuals whose IQs remained in the normal range; (b) persistently low: individuals whose IQs remained in the range of intellectual disability (IQ < 70); and (c) changers: individuals whose IQs began in the range of intellectual disability but increased to the normal IQ range. The frontoparietal (FPN) and default mode (DMN) networks have established links to intellectual functioning. Here, we tested whether brain regions within the FPN and DMN differed volumetrically between these IQ trajectory groups in early childhood. METHODS: We conducted multivariate distance matrix regression to examine the brain regions within the FPN (11 regions x 2 hemispheres) and the DMN (12 regions x 2 hemispheres) in 48 persistently high (18 female), 108 persistently low (32 female), and 109 changers (39 female) using structural MRI acquired at baseline. FPN and DMN regions were defined using networks identified in Smith et al. (Proc Natl Acad Sci U S A 106:13040-5, 2009). IQ trajectory groups were defined by IQ measurements from up to three time points spanning early to middle childhood (mean age time 1: 3.2 years; time 2: 5.4 years; time 3: 11.3 years). RESULTS: The changers group exhibited volumetric differences in the DMN compared to both the persistently low and persistently high groups at time 1. However, the persistently high group did not differ from the persistently low group, suggesting that DMN structure may be an early predictor for change in IQ trajectory. In contrast, the persistently high group exhibited differences in the FPN compared to both the persistently low and changers groups, suggesting differences related more to concurrent IQ and the absence of intellectual disability. CONCLUSIONS: Within autism, volumetric differences of brain regions within the DMN in early childhood may differentiate individuals with persistently low IQ from those with low IQ that improves through childhood. Structural differences in brain networks between these three IQ-based subgroups highlight distinct neural underpinnings of these autism sub-phenotypes. En ligne : https://dx.doi.org/10.1186/s11689-022-09460-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Default mode and fronto-parietal network associations with IQ development across childhood in autism [texte imprimé] / Joshua K. LEE, Auteur ; An Chuen Billy CHO, Auteur ; Derek S. ANDREWS, Auteur ; Sally OZONOFF, Auteur ; Sally J. ROGERS, Auteur ; David G. AMARAL, Auteur ; Marjorie SOLOMON, Auteur ; Christine Wu NORDAHL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Autism Spectrum Disorder/complications/diagnostic imaging  Autistic Disorder/diagnostic imaging  Brain/diagnostic imaging  Brain Mapping  Female  Humans  Intellectual Disability/complications  Autism spectrum disorder  Default mode  Fronto-parietal  Iq  Intellectual disability  Longitudinal  MRI  Inc., and Axial Therapeutics. The other authors declare that they have competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability affects approximately one third of individuals with autism spectrum disorder (autism). Yet, a major unresolved neurobiological question is what differentiates autistic individuals with and without intellectual disability. Intelligence quotients (IQs) are highly variable during childhood. We previously identified three subgroups of autistic children with different trajectories of intellectual development from early (2-3½ years) to middle childhood (9-12 years): (a) persistently high: individuals whose IQs remained in the normal range; (b) persistently low: individuals whose IQs remained in the range of intellectual disability (IQ < 70); and (c) changers: individuals whose IQs began in the range of intellectual disability but increased to the normal IQ range. The frontoparietal (FPN) and default mode (DMN) networks have established links to intellectual functioning. Here, we tested whether brain regions within the FPN and DMN differed volumetrically between these IQ trajectory groups in early childhood. METHODS: We conducted multivariate distance matrix regression to examine the brain regions within the FPN (11 regions x 2 hemispheres) and the DMN (12 regions x 2 hemispheres) in 48 persistently high (18 female), 108 persistently low (32 female), and 109 changers (39 female) using structural MRI acquired at baseline. FPN and DMN regions were defined using networks identified in Smith et al. (Proc Natl Acad Sci U S A 106:13040-5, 2009). IQ trajectory groups were defined by IQ measurements from up to three time points spanning early to middle childhood (mean age time 1: 3.2 years; time 2: 5.4 years; time 3: 11.3 years). RESULTS: The changers group exhibited volumetric differences in the DMN compared to both the persistently low and persistently high groups at time 1. However, the persistently high group did not differ from the persistently low group, suggesting that DMN structure may be an early predictor for change in IQ trajectory. In contrast, the persistently high group exhibited differences in the FPN compared to both the persistently low and changers groups, suggesting differences related more to concurrent IQ and the absence of intellectual disability. CONCLUSIONS: Within autism, volumetric differences of brain regions within the DMN in early childhood may differentiate individuals with persistently low IQ from those with low IQ that improves through childhood. Structural differences in brain networks between these three IQ-based subgroups highlight distinct neural underpinnings of these autism sub-phenotypes. En ligne : https://dx.doi.org/10.1186/s11689-022-09460-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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