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

Computational approaches to address data challenges in intellectual and developmental disabilities research / Daifeng WANG in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Computational approaches to address data challenges in intellectual and developmental disabilities research Type de document : texte imprimé Auteurs : Daifeng WANG, Auteur ; John R. Jr PRUETT, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Developmental Disabilities  Intellectual Disability Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-022-09472-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Computational approaches to address data challenges in intellectual and developmental disabilities research [texte imprimé] / Daifeng WANG, Auteur ; John R. Jr PRUETT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Child  Humans  Developmental Disabilities  Intellectual Disability Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-022-09472-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Functional connectivity between the visual and salience networks and autistic social features at school-age / Jessica B. GIRAULT in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Functional connectivity between the visual and salience networks and autistic social features at school-age Type de document : texte imprimé Auteurs : Jessica B. GIRAULT, Auteur ; Tomoyuki NISHINO, Auteur ; Muhamed TALOVIĆ, Auteur ; Mary Beth NEBEL, Auteur ; Margaret REYNOLDS, Auteur ; Catherine A. BURROWS, Auteur ; Jed T. ELISON, Auteur ; Chimei M. LEE, Auteur ; Abraham Z. SNYDER, Auteur ; Mark D. SHEN, Auteur ; Audrey M. SHEN, Auteur ; Kelly N. BOTTERON, Auteur ; Annette M. ESTES, Auteur ; Stephen R. DAGER, Auteur ; Guido GERIG, Auteur ; Heather C. HAZLETT, Auteur ; Natasha MARRUS, Auteur ; Robert C. MCKINSTRY, Auteur ; Juhi PANDEY, Auteur ; Robert T. SCHULTZ, Auteur ; Tanya ST JOHN, Auteur ; Martin A. STYNER, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Alexandre A. TODOROV, Auteur ; Joseph PIVEN, Auteur ; John R. Jr PRUETT, Auteur ; IBIS NETWORK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Child  Female  Magnetic Resonance Imaging  Autism Spectrum Disorder/physiopathology/diagnostic imaging/psychology  Longitudinal Studies  Brain/physiopathology/diagnostic imaging  Social Behavior  Neural Pathways/physiopathology/diagnostic imaging  Nerve Net/physiopathology/diagnostic imaging  Autism  Brain networks  Functional connectivity  Mri  Social behavior  provided by all participating families. Study procedures were approved by the  Institutional Review Boards (IRB) at each research site: University of North  Carolina at Chapel Hill, Washington University in St. Louis, University of  Washington in Seattle, and the Children’s Hospital of Philadelphia. A single  governing IRB at UNC Chapel Hill was in place (IRB #17–1871, PI: Piven). Consent  for publication: Not applicable. Competing interests: Dr. Robert McKinstry serves  on the medical advisory board and receives stock options for Turing Medical  he  also receives funding for meals and travel from Siemens Healthineers, Philips  Healthcare, RadiAction Medical, and meals from Hyperfine, Inc. Abraham Z. Snyder  is a consultant for Sora Neuroscience, LLC. A.M. Shen discloses a familial  relationship with M.D. Shen, but their institution’s COI Office has determined  there is no scientific or financial conflict of interest. All other authors  report no financial relationships with commercial interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is highly heritable and phenotypically variable. Neuroimaging markers reflecting variation in behavior will provide insights into circuitry subserving core features. We examined functional correlates of ASD symptomology at school-age, while accounting for associated behavioral and cognitive domains, in a longitudinal sample followed from infancy and enriched for those with a genetic liability for ASD. METHODS: Resting state functional connectivity MRIs (fcMRI) and behavioral data were analyzed from 97 school-age children (8.1-12.0 years, 55 males, 15 ASD) with (n = 63) or without (n = 34) a family history of ASD. fcMRI enrichment analysis (EA) was used to screen for associations between network-level functional connectivity and six behaviors of interest in a data-driven manner: social affect, restricted and repetitive behavior (RRB), generalized anxiety, inattention, motor coordination, and matrix reasoning. RESULTS: Functional connectivity between the visual and salience networks was significantly associated with social affect symptoms at school-age after accounting for all other behaviors. Results indicated that stronger connectivity was associated with higher social affect scores. No other behaviors were robustly associated with functional connectivity, though trends were observed between visual-salience connectivity and RRBs. CONCLUSIONS: Connectivity between the visual and salience networks may play an important role in social affect symptom variability among children with ASD and those with genetic liability for ASD. These findings align with and extend earlier reports in this sample of the central role of the visual system during infancy in ASD. En ligne : https://dx.doi.org/10.1186/s11689-025-09613-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Functional connectivity between the visual and salience networks and autistic social features at school-age [texte imprimé] / Jessica B. GIRAULT, Auteur ; Tomoyuki NISHINO, Auteur ; Muhamed TALOVIĆ, Auteur ; Mary Beth NEBEL, Auteur ; Margaret REYNOLDS, Auteur ; Catherine A. BURROWS, Auteur ; Jed T. ELISON, Auteur ; Chimei M. LEE, Auteur ; Abraham Z. SNYDER, Auteur ; Mark D. SHEN, Auteur ; Audrey M. SHEN, Auteur ; Kelly N. BOTTERON, Auteur ; Annette M. ESTES, Auteur ; Stephen R. DAGER, Auteur ; Guido GERIG, Auteur ; Heather C. HAZLETT, Auteur ; Natasha MARRUS, Auteur ; Robert C. MCKINSTRY, Auteur ; Juhi PANDEY, Auteur ; Robert T. SCHULTZ, Auteur ; Tanya ST JOHN, Auteur ; Martin A. STYNER, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Alexandre A. TODOROV, Auteur ; Joseph PIVEN, Auteur ; John R. Jr PRUETT, Auteur ; IBIS NETWORK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Male  Child  Female  Magnetic Resonance Imaging  Autism Spectrum Disorder/physiopathology/diagnostic imaging/psychology  Longitudinal Studies  Brain/physiopathology/diagnostic imaging  Social Behavior  Neural Pathways/physiopathology/diagnostic imaging  Nerve Net/physiopathology/diagnostic imaging  Autism  Brain networks  Functional connectivity  Mri  Social behavior  provided by all participating families. Study procedures were approved by the  Institutional Review Boards (IRB) at each research site: University of North  Carolina at Chapel Hill, Washington University in St. Louis, University of  Washington in Seattle, and the Children’s Hospital of Philadelphia. A single  governing IRB at UNC Chapel Hill was in place (IRB #17–1871, PI: Piven). Consent  for publication: Not applicable. Competing interests: Dr. Robert McKinstry serves  on the medical advisory board and receives stock options for Turing Medical  he  also receives funding for meals and travel from Siemens Healthineers, Philips  Healthcare, RadiAction Medical, and meals from Hyperfine, Inc. Abraham Z. Snyder  is a consultant for Sora Neuroscience, LLC. A.M. Shen discloses a familial  relationship with M.D. Shen, but their institution’s COI Office has determined  there is no scientific or financial conflict of interest. All other authors  report no financial relationships with commercial interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is highly heritable and phenotypically variable. Neuroimaging markers reflecting variation in behavior will provide insights into circuitry subserving core features. We examined functional correlates of ASD symptomology at school-age, while accounting for associated behavioral and cognitive domains, in a longitudinal sample followed from infancy and enriched for those with a genetic liability for ASD. METHODS: Resting state functional connectivity MRIs (fcMRI) and behavioral data were analyzed from 97 school-age children (8.1-12.0 years, 55 males, 15 ASD) with (n = 63) or without (n = 34) a family history of ASD. fcMRI enrichment analysis (EA) was used to screen for associations between network-level functional connectivity and six behaviors of interest in a data-driven manner: social affect, restricted and repetitive behavior (RRB), generalized anxiety, inattention, motor coordination, and matrix reasoning. RESULTS: Functional connectivity between the visual and salience networks was significantly associated with social affect symptoms at school-age after accounting for all other behaviors. Results indicated that stronger connectivity was associated with higher social affect scores. No other behaviors were robustly associated with functional connectivity, though trends were observed between visual-salience connectivity and RRBs. CONCLUSIONS: Connectivity between the visual and salience networks may play an important role in social affect symptom variability among children with ASD and those with genetic liability for ASD. These findings align with and extend earlier reports in this sample of the central role of the visual system during infancy in ASD. En ligne : https://dx.doi.org/10.1186/s11689-025-09613-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Parent attitudes towards predictive testing for autism in the first year of life / Aurora M. WASHINGTON in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Parent attitudes towards predictive testing for autism in the first year of life Type de document : texte imprimé Auteurs : Aurora M. WASHINGTON, Auteur ; Amanda H. MERCER, Auteur ; Catherine A. BURROWS, Auteur ; Stephen R. DAGER, Auteur ; Jed T. ELISON, Auteur ; Annette M. ESTES, Auteur ; Rebecca GRZADZINSKI, Auteur ; Chimei LEE, Auteur ; Joseph PIVEN, Auteur ; John R. Jr PRUETT, Auteur ; Mark D. SHEN, Auteur ; Benjamin WILFOND, Auteur ; Jason WOLFF, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Katherine E. MACDUFFIE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Parents  Infant  Male  Female  Autistic Disorder/diagnosis  Adult  Biomarkers  Qualitative Research  Autism Spectrum Disorder/diagnosis  Autism  Bioethics  Prediction  Stakeholder engagement Index. décimale : PER Périodiques Résumé : BACKGROUND: Emerging biomarker technologies (e.g., MRI, EEG, digital phenotyping, eye-tracking) have potential to move the identification of autism into the first year of life. We investigated the perspectives of parents about the anticipated utility and impact of predicting later autism diagnosis from a biomarker-based test in infancy. METHODS: Parents of infants were interviewed to ascertain receptiveness and perspectives on early (6-12 months) prediction of autism using emerging biomarker technologies. One group had experience parenting an older autistic child (n=30), and the other had no prior autism parenting experience (n=25). Parent responses were analyzed using inductive qualitative coding methods. RESULTS: Almost all parents in both groups were interested in predictive testing for autism, with some stating they would seek testing only if concerned about their infant's development. The primary anticipated advantage of testing was to enable access to earlier intervention. Parents also described the anticipated emotions they would feel in response to test results, actions they might take upon learning their infant was likely to develop autism, attitudes towards predicting a child's future support needs, and the potential impacts of inaccurate prediction. CONCLUSION: In qualitative interviews, parents of infants with and without prior autism experience shared their anticipated motivations and concerns about predictive testing for autism in the first year of life. The primary reported motivators for testing-to have more time to prepare and intervene early-could be constrained by familial resources and service availability. Implications for ethical communication of results, equitable early intervention, and future research are discussed. En ligne : https://dx.doi.org/10.1186/s11689-024-09561-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Parent attitudes towards predictive testing for autism in the first year of life [texte imprimé] / Aurora M. WASHINGTON, Auteur ; Amanda H. MERCER, Auteur ; Catherine A. BURROWS, Auteur ; Stephen R. DAGER, Auteur ; Jed T. ELISON, Auteur ; Annette M. ESTES, Auteur ; Rebecca GRZADZINSKI, Auteur ; Chimei LEE, Auteur ; Joseph PIVEN, Auteur ; John R. Jr PRUETT, Auteur ; Mark D. SHEN, Auteur ; Benjamin WILFOND, Auteur ; Jason WOLFF, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Katherine E. MACDUFFIE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Parents  Infant  Male  Female  Autistic Disorder/diagnosis  Adult  Biomarkers  Qualitative Research  Autism Spectrum Disorder/diagnosis  Autism  Bioethics  Prediction  Stakeholder engagement Index. décimale : PER Périodiques Résumé : BACKGROUND: Emerging biomarker technologies (e.g., MRI, EEG, digital phenotyping, eye-tracking) have potential to move the identification of autism into the first year of life. We investigated the perspectives of parents about the anticipated utility and impact of predicting later autism diagnosis from a biomarker-based test in infancy. METHODS: Parents of infants were interviewed to ascertain receptiveness and perspectives on early (6-12 months) prediction of autism using emerging biomarker technologies. One group had experience parenting an older autistic child (n=30), and the other had no prior autism parenting experience (n=25). Parent responses were analyzed using inductive qualitative coding methods. RESULTS: Almost all parents in both groups were interested in predictive testing for autism, with some stating they would seek testing only if concerned about their infant's development. The primary anticipated advantage of testing was to enable access to earlier intervention. Parents also described the anticipated emotions they would feel in response to test results, actions they might take upon learning their infant was likely to develop autism, attitudes towards predicting a child's future support needs, and the potential impacts of inaccurate prediction. CONCLUSION: In qualitative interviews, parents of infants with and without prior autism experience shared their anticipated motivations and concerns about predictive testing for autism in the first year of life. The primary reported motivators for testing-to have more time to prepare and intervene early-could be constrained by familial resources and service availability. Implications for ethical communication of results, equitable early intervention, and future research are discussed. En ligne : https://dx.doi.org/10.1186/s11689-024-09561-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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