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

Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome / Rebecca GRZADZINSKI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome Type de document : texte imprimé Auteurs : Rebecca GRZADZINSKI, Auteur ; Kattia MATA, Auteur ; Ambika S. BHATT, Auteur ; Alapika JATKAR, Auteur ; Dea GARIC, Auteur ; Mark D. SHEN, Auteur ; Jessica B. GIRAULT, Auteur ; Tanya ST JOHN, Auteur ; Juhi PANDEY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Annette ESTES, Auteur ; Audrey M. SHEN, Auteur ; Stephen DAGER, Auteur ; Robert SCHULTZ, Auteur ; Kelly BOTTERON, Auteur ; Natasha MARRUS, Auteur ; Martin STYNER, Auteur ; Alan EVANS, Auteur ; Sun Hyung KIM, Auteur ; Robert MCKINSTRY, Auteur ; Guido GERIG, Auteur ; Joseph PIVEN, Auteur ; Heather HAZLETT, Auteur ; IBIS NETWORK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Down Syndrome/diagnostic imaging/physiopathology/pathology  Male  Female  Child  Magnetic Resonance Imaging  Adaptation, Psychological/physiology  Cognition/physiology  Brain/diagnostic imaging/pathology/physiopathology  Autism Spectrum Disorder/diagnostic imaging/physiopathology/pathology  Organ Size  Cerebellum/diagnostic imaging/pathology/physiopathology  Adaptive  Autism spectrum disorder  Brain volumes  Cognitive  Cortical volumes  Down syndrome  Intellectual disability  Mri  Neurobehavioral/behavioral profiles  Neurodevelopmental disorder  Neuroimaging  School-age children  in this work was approved by the local Institutional Review Board. Consent for  publication: All authors have reviewed the manuscript and approved it for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research. En ligne : https://dx.doi.org/10.1186/s11689-024-09581-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome [texte imprimé] / Rebecca GRZADZINSKI, Auteur ; Kattia MATA, Auteur ; Ambika S. BHATT, Auteur ; Alapika JATKAR, Auteur ; Dea GARIC, Auteur ; Mark D. SHEN, Auteur ; Jessica B. GIRAULT, Auteur ; Tanya ST JOHN, Auteur ; Juhi PANDEY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Annette ESTES, Auteur ; Audrey M. SHEN, Auteur ; Stephen DAGER, Auteur ; Robert SCHULTZ, Auteur ; Kelly BOTTERON, Auteur ; Natasha MARRUS, Auteur ; Martin STYNER, Auteur ; Alan EVANS, Auteur ; Sun Hyung KIM, Auteur ; Robert MCKINSTRY, Auteur ; Guido GERIG, Auteur ; Joseph PIVEN, Auteur ; Heather HAZLETT, Auteur ; IBIS NETWORK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Down Syndrome/diagnostic imaging/physiopathology/pathology  Male  Female  Child  Magnetic Resonance Imaging  Adaptation, Psychological/physiology  Cognition/physiology  Brain/diagnostic imaging/pathology/physiopathology  Autism Spectrum Disorder/diagnostic imaging/physiopathology/pathology  Organ Size  Cerebellum/diagnostic imaging/pathology/physiopathology  Adaptive  Autism spectrum disorder  Brain volumes  Cognitive  Cortical volumes  Down syndrome  Intellectual disability  Mri  Neurobehavioral/behavioral profiles  Neurodevelopmental disorder  Neuroimaging  School-age children  in this work was approved by the local Institutional Review Board. Consent for  publication: All authors have reviewed the manuscript and approved it for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research. En ligne : https://dx.doi.org/10.1186/s11689-024-09581-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk / Natasha MARRUS in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk Type de document : texte imprimé Auteurs : Natasha MARRUS, Auteur ; Tychele N. TURNER, Auteur ; Elizabeth FORSEN, Auteur ; Drew BOLSTER, Auteur ; Alison MARVIN, Auteur ; Andrew WHITEHOUSE, Auteur ; Laura KLINGER, Auteur ; Christina A. GURNETT, Auteur ; J.N. CONSTANTINO, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics  Autistic Disorder/epidemiology/genetics  Genetic Counseling  Humans  Parents  Prospective Studies  Early detection  Family studies  Personalized medicine  Reproductive health planning  for the Social Responsiveness Scale. Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample. A next essential step is to investigate whether there are measurable characteristics of individual parents placing them at higher or lower recurrence risk, as this information could allow more personalized genetic counseling. METHODS: We assembled what is to our knowledge the largest collection of data on the ability of four measurable characteristics of unaffected prospective parents to specify risk for autism among their offspring: (1) sub clinical autistic trait burden, (2) parental history of a sibling with ASD, (3) transmitted autosomal molecular genetic abnormalities, and (4) parental age. Leveraging phenotypic and genetic data in curated family cohorts, we evaluate the respective associations between these factors and child outcome when autism is present in the family in the parental generation. RESULTS: All four characteristics were associated with elevation in offspring risk; however, the magnitude of their predictive power-with the exception of isolated rare inherited pathogenic variants -does not yet reach a threshold that would typically be considered actionable for reproductive decision-making. CONCLUSIONS: Individual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable more robust prediction either singly or when combined with the risk variables examined in this study. En ligne : https://dx.doi.org/10.1186/s11689-021-09389-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk [texte imprimé] / Natasha MARRUS, Auteur ; Tychele N. TURNER, Auteur ; Elizabeth FORSEN, Auteur ; Drew BOLSTER, Auteur ; Alison MARVIN, Auteur ; Andrew WHITEHOUSE, Auteur ; Laura KLINGER, Auteur ; Christina A. GURNETT, Auteur ; J.N. CONSTANTINO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics  Autistic Disorder/epidemiology/genetics  Genetic Counseling  Humans  Parents  Prospective Studies  Early detection  Family studies  Personalized medicine  Reproductive health planning  for the Social Responsiveness Scale. Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample. A next essential step is to investigate whether there are measurable characteristics of individual parents placing them at higher or lower recurrence risk, as this information could allow more personalized genetic counseling. METHODS: We assembled what is to our knowledge the largest collection of data on the ability of four measurable characteristics of unaffected prospective parents to specify risk for autism among their offspring: (1) sub clinical autistic trait burden, (2) parental history of a sibling with ASD, (3) transmitted autosomal molecular genetic abnormalities, and (4) parental age. Leveraging phenotypic and genetic data in curated family cohorts, we evaluate the respective associations between these factors and child outcome when autism is present in the family in the parental generation. RESULTS: All four characteristics were associated with elevation in offspring risk; however, the magnitude of their predictive power-with the exception of isolated rare inherited pathogenic variants -does not yet reach a threshold that would typically be considered actionable for reproductive decision-making. CONCLUSIONS: Individual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable more robust prediction either singly or when combined with the risk variables examined in this study. En ligne : https://dx.doi.org/10.1186/s11689-021-09389-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Sleep in Infants with Down Syndrome or Familial Likelihood of Autism in the First Year of Life / Emma R. COCO in Journal of Autism and Developmental Disorders, 55-12 (December 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-12 (December 2025) . - p.4439-4449 Titre : Sleep in Infants with Down Syndrome or Familial Likelihood of Autism in the First Year of Life Type de document : texte imprimé Auteurs : Emma R. COCO, Auteur ; Jeffrey MUNSON, Auteur ; Tanya ST JOHN, Auteur ; Stephen R. DAGER, Auteur ; Kelly BOTTERON, Auteur ; Jed ELISON, Auteur ; Dea GARIC, Auteur ; Heather HAZLETT, Auteur ; Chimei LEE, Auteur ; Natasha MARRUS, Auteur ; John R. PRUETT, Auteur ; Robert SCHULTZ, Auteur ; Mark SHEN, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Joseph PIVEN, Auteur ; Annette ESTES, Auteur Article en page(s) : p.4439-4449 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Sleep problems have been associated with atypical development, but there is limited understanding of when sleep problems arise and how they differ across clinical populations. We aimed to evaluate sleep characteristics of infants with Down syndrome (DS), higher familial likelihood of autism (HL) and lower familial likelihood of autism (LL) at 6 and 12 months of age. Participants were from two longitudinal, multi-site, studies. Sleep was estimated by parent report on the Brief Infant Sleep Questionnaire at 6 months (59 DS, 173 HL, 54 LL); 12 months (58 DS, 129 HL, 30 LL); and in a longitudinal subset at both 6 and 12 months (100 HL; 23 LL; 33 DS). At 6-months, DS parents reported less concern about infant sleep and less night wakefulness than LL parents; HL parents reported longer sleep onset latency (SOL). At 12 months DS parents reported less night sleep and more night wakefulness; HL parents reported less night sleep, more night wakefulness and longer SOL compared to LL. Night wakefulness increased significantly in the DS and HL groups from 6 to 12 months of age. A higher proportion of DS and HL infants decreased Night Sleep and increased Night Wakefulness compared with the LL group. A higher proportion of DS infants increased SOL compared with the LL group. Sleep alterations are present in the first year of life and may differ in DS and HL infants. The mechanisms behind these sleep alterations may be an important early intervention target. En ligne : https://doi.org/10.1007/s10803-025-06927-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=572 [article] Sleep in Infants with Down Syndrome or Familial Likelihood of Autism in the First Year of Life [texte imprimé] / Emma R. COCO, Auteur ; Jeffrey MUNSON, Auteur ; Tanya ST JOHN, Auteur ; Stephen R. DAGER, Auteur ; Kelly BOTTERON, Auteur ; Jed ELISON, Auteur ; Dea GARIC, Auteur ; Heather HAZLETT, Auteur ; Chimei LEE, Auteur ; Natasha MARRUS, Auteur ; John R. PRUETT, Auteur ; Robert SCHULTZ, Auteur ; Mark SHEN, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Joseph PIVEN, Auteur ; Annette ESTES, Auteur . - p.4439-4449. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-12 (December 2025) . - p.4439-4449 Index. décimale : PER Périodiques Résumé : Sleep problems have been associated with atypical development, but there is limited understanding of when sleep problems arise and how they differ across clinical populations. We aimed to evaluate sleep characteristics of infants with Down syndrome (DS), higher familial likelihood of autism (HL) and lower familial likelihood of autism (LL) at 6 and 12 months of age. Participants were from two longitudinal, multi-site, studies. Sleep was estimated by parent report on the Brief Infant Sleep Questionnaire at 6 months (59 DS, 173 HL, 54 LL); 12 months (58 DS, 129 HL, 30 LL); and in a longitudinal subset at both 6 and 12 months (100 HL; 23 LL; 33 DS). At 6-months, DS parents reported less concern about infant sleep and less night wakefulness than LL parents; HL parents reported longer sleep onset latency (SOL). At 12 months DS parents reported less night sleep and more night wakefulness; HL parents reported less night sleep, more night wakefulness and longer SOL compared to LL. Night wakefulness increased significantly in the DS and HL groups from 6 to 12 months of age. A higher proportion of DS and HL infants decreased Night Sleep and increased Night Wakefulness compared with the LL group. A higher proportion of DS infants increased SOL compared with the LL group. Sleep alterations are present in the first year of life and may differ in DS and HL infants. The mechanisms behind these sleep alterations may be an important early intervention target. En ligne : https://doi.org/10.1007/s10803-025-06927-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=572

Social attention during object engagement: toward a cross-species measure of preferential social orienting / Claire WEICHSELBAUM in Journal of Neurodevelopmental Disorders, 14 (2022)  

Permalink

---

1 (1 - 6 / 6) Par page : 25 50 100 200