2025
Sex-Related Measurement Bias in Autism Spectrum Disorder Symptoms in the Baby Siblings Research Consortium
Burrows C, Sung S, Zheng S, Young G, Charman T, Klaiman C, Klin A, Marrus N, Ozonoff S, Piven J, Robins D, Schmidt R, Schwichtenberg A, Webb S, Zwaigenbaum L, Carver L, Chawarska K, Curtin S, Jeste S, Iverson J, Landa R, Messinger D, Roberts J, Stone W, Tager-Flusberg H, Esler A, Miller M, Bishop S, Elison J. Sex-Related Measurement Bias in Autism Spectrum Disorder Symptoms in the Baby Siblings Research Consortium. JAMA Network Open 2025, 8: e2525887. PMID: 40779266, PMCID: PMC12334962, DOI: 10.1001/jamanetworkopen.2025.25887.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderAutism Diagnostic Observation ScheduleSex differencesQuality of social overturesMeasures of ASD symptomsResponsiveness to joint attentionAutism spectrum disorder symptomsHFL groupSocial communication difficultiesPrevalence of autism spectrum disorderConfirmatory factor analysisModerate levelsSocial overturesDisorder symptomsASD symptomsAutistic traitsClinician trainingJoint attentionMeasurement invarianceAge of diagnosisSpectrum disorderDevelopmental differencesMain OutcomesObservation ScheduleDiagnostic groupsAge, Race, and Ethnicity of Maternal Grandparents in Autism Spectrum Disorder, a California Multigenerational Study
Chow T, Meng Q, Xiao J, O'Sharkey K, Liew Z, Ritz B. Age, Race, and Ethnicity of Maternal Grandparents in Autism Spectrum Disorder, a California Multigenerational Study. Autism Research 2025 PMID: 40542519, DOI: 10.1002/aur.70074.Peer-Reviewed Original ResearchOdds ratioOlder grandparentsBirth cohort studyMother-child pairsHispanic grandmothersASD riskCohort studyInfluence of ageInverse associationWhite raceInvestigate associationsGrandparent ageYounger ageLogistic regressionOlder ageAutism spectrum disorderSpectrum disorderRace/ethnicityAgeOddsRiskMaternal grandparentsGrandparentsDisordersGrandmothersHeterozygosity for neurodevelopmental disorder-associated TRIO variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in mice
Ishchenko Y, Jeng A, Feng S, Nottoli T, Manriquez-Rodriguez C, Nguyen K, Carrizales M, Vitarelli M, Corcoran E, Greer C, Myers S, Koleske A. Heterozygosity for neurodevelopmental disorder-associated TRIO variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in mice. ELife 2025, 13: rp103620. PMID: 40488445, PMCID: PMC12148328, DOI: 10.7554/elife.103620.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderGuanine nucleotide exchange factorNeurodevelopmental disordersPresynaptic glutamate releaseLayer 5 pyramidal neuronsAssociated with neurodevelopmental disordersIntellectual disabilitySpectrum disorderMouse behaviorCognitive behaviorNucleotide exchange factorNeuronal developmentBrain developmentGlutamate releaseIncreased Rac1 activityBrain sizeSynaptic functionControlling neuronal developmentSchizophreniaImpaired abilityAssociated with increased levelsNeurodevelopmental eventsActive GTPaseGEF Tiam1Exchange factorHeterozygosity for neurodevelopmental disorder-associated TRIO variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in mice
Ishchenko Y, Jeng A, Feng S, Nottoli T, Manriquez-Rodriguez C, Nguyen K, Carrizales M, Vitarelli M, Corcoran E, Greer C, Myers S, Koleske A. Heterozygosity for neurodevelopmental disorder-associated TRIO variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in mice. ELife 2025, 13 DOI: 10.7554/elife.103620.3.Peer-Reviewed Original ResearchAutism spectrum disorderGuanine nucleotide exchange factorNeurodevelopmental disordersPresynaptic glutamate releaseLayer 5 pyramidal neuronsAssociated with neurodevelopmental disordersIntellectual disabilitySpectrum disorderMouse behaviorCognitive behaviorNucleotide exchange factorSchizophreniaNeuronal developmentBrain developmentGlutamate releaseIncreased Rac1 activityBrain sizeSynaptic functionControlling neuronal developmentImpaired abilityAssociated with increased levelsNeurodevelopmental eventsActive GTPaseGEF Tiam1Exchange factorDigital Health Interventions Targeting Psychological Health in Parents of Children With Autism Spectrum Disorder: Protocol for a Scoping Review
Ji B, Batubara I, Batten J, Peng X, Chen S, Ni Z. Digital Health Interventions Targeting Psychological Health in Parents of Children With Autism Spectrum Disorder: Protocol for a Scoping Review. JMIR Research Protocols 2025, 14: e68677. PMID: 40466097, PMCID: PMC12177426, DOI: 10.2196/68677.Peer-Reviewed Original ResearchConceptsDigital health interventionsParents of childrenINTERNATIONAL REGISTERED REPORT IDENTIFIERParental psychological healthPsychological healthScoping ReviewAutism spectrum disorderDevelopment of practice guidelinesPsychological health outcomesHealth of parentsEnglish-language studiesPsychological health of parentsWeb of SciencePublic health concernHealth outcomesHealth interventionsSpectrum disorderEvidence synthesisParticipant characteristicsIntervention specificsPsychological outcomesPractice guidelinesStudy designData extractionOvid MEDLINEKappa opioid receptor antagonism restores phosphorylation, trafficking and behavior induced by a disease-associated dopamine transporter variant
Mayer F, Stewart A, Varman D, Moritz A, Foster J, Owens A, Areal L, Gowrishankar R, Velez M, Wickham K, Phelps H, Katamish R, Rabil M, Jayanthi L, Vaughan R, Daws L, Blakely R, Ramamoorthy S. Kappa opioid receptor antagonism restores phosphorylation, trafficking and behavior induced by a disease-associated dopamine transporter variant. Molecular Psychiatry 2025, 1-14. PMID: 40442453, DOI: 10.1038/s41380-025-03055-4.Peer-Reviewed Original ResearchAttention-deficit/hyperactivity disorderKappa-opioid receptor antagonismKappa-opioid receptorsAnomalous DA effluxDA transporterAutism spectrum disorderBipolar disorderDAT Val559D-amphetamineDA releaseAbuse liabilityTreatment of attention-deficit/hyperactivity disorderDopamine transporter variantsModulate DA releaseDA transporter functionSubstance use disordersTargeting kappa opioid receptorsKappa-opioid receptor stimulationHuman DA transporterKOR antagonismDA effluxAberrant dopamineAttention-deficit/hyperactivityDA neuronsSpectrum disorderThe Case for Structured Data in Developmental-Behavioral Pediatrics: Project STANDARD (Structured Approach to Neurodevelopmental Care and Clinical Research Data).
Barbaresi W, Bannett Y, Blum N, Chong S, Clark J, Dall M, Epstein J, Fellinger J, Froehlich T, Hofer J, Holzinger D, Huang P, Kang Y, Aishworiya R, Reilly M, Reynolds A, Roberts G, Sideridis G, Swain D, Weitzman C. The Case for Structured Data in Developmental-Behavioral Pediatrics: Project STANDARD (Structured Approach to Neurodevelopmental Care and Clinical Research Data). Journal Of Developmental And Behavioral Pediatrics 2025 PMID: 40439618, DOI: 10.1097/dbp.0000000000001376.Peer-Reviewed Original ResearchAttention-deficit hyperactivity disorderAutism spectrum disorderEvidence-based treatmentsClinical documentationDocumentation of careHyperactivity disorderDevelopmental-behavioral pediatricsBehavior problemsSpectrum disorderLongitudinal clinical research studiesClinical research studiesDevelopmental-BehavioralClinical careQuality improvementMeasured outcomesDisordersPossible role of mosaic mutations of neurodevelopmental disorder-related genes in bipolar disorder: Lessons from Kmt2c chimeric heterozygous knockout mice
Nakamura T, Nakajima K, Fujimori-Tonou N, Kasahara T, Tsuboi T, Kato T. Possible role of mosaic mutations of neurodevelopmental disorder-related genes in bipolar disorder: Lessons from Kmt2c chimeric heterozygous knockout mice. Neuroscience Research 2025, 217: 104910. PMID: 40414358, DOI: 10.1016/j.neures.2025.05.005.Peer-Reviewed Original ResearchBipolar disorderSpectrum of bipolar disordersAutism-like phenotypeAutism spectrum disorderAutism-like behaviorsDepression-like episodesKnockout miceMosaic mutationsHeterozygous knockout miceMental disordersSpectrum disorderKleefstra syndromeGenetic architecture of bipolar disorderDisordersSymptomatic spectrumAnxietyExome sequencing analysisGenetic architectureSequence analysisCausative genesMosaic miceGenesSomatic mutationsAutismKMT2CImpact of COVID-19 on Adaptive Skills and Psychiatric Symptoms in South Korean Children With Autism Spectrum Disorder
Cho Y, Kim E, Kim Y, Kim H, Kim J, Shin B, Di Martino A, Leventhal B. Impact of COVID-19 on Adaptive Skills and Psychiatric Symptoms in South Korean Children With Autism Spectrum Disorder. JAACAP Open 2025 DOI: 10.1016/j.jaacop.2025.04.004.Peer-Reviewed Original ResearchAutism spectrum disorderSouth Korean childrenAdaptive living skillsCoRonavIruS Health Impact SurveyLiving skillsProblem behaviorsAttended general educationBaseline physical healthHealth Impact SurveyLongitudinal follow-up studySpectrum disorderMethods CaregiversCaregiver surveyKorean childrenPhysical healthEpidemiological cohortVulnerable subgroupsImpact SurveySouth Korean citiesLack of consistencyFollow-up studyImpact of COVID-19Psychiatric symptomsLanguage deficitsEffects of COVID-19A multi-omic approach implicates novel protein dysregulation in post-traumatic stress disorder
Wang J, Liu Y, Li H, Nguyen T, Soto-Vargas J, Wilson R, Wang W, Lam T, Zhang C, Lin C, Lewis D, Glausier J, Holtzheimer P, Friedman M, Williams K, Picciotto M, Nairn A, Krystal J, Duman R, Young K, Zhao H, Girgenti M. A multi-omic approach implicates novel protein dysregulation in post-traumatic stress disorder. Genome Medicine 2025, 17: 43. PMID: 40301990, PMCID: PMC12042318, DOI: 10.1186/s13073-025-01473-1.Peer-Reviewed Original ResearchConceptsPost-traumatic stress disorderDorsolateral prefrontal cortexPsychiatric disordersAutism spectrum disorderPrefrontal cortexDepressive disorderStress disorderGamma-aminobutyric acidGenome-wide association studiesPTSD brainsGenome-wide measurementsStudies of postmortem brainsSubgenual prefrontal cortexDisabling psychiatric disorderMultiple psychiatric disordersPrefrontal cortical areasPTSD casesHuman brain studiesBrain regionsSpectrum disorderGABAergic processesPostmortem brainsMDDProtein co-expression modulesProteomic profilingCausal Modeling of FMRI Time-Series for Interpretable Autism Spectrum Disorder Classification
Duan P, Dvornek N, Wang J, Staib L, Duncan J. Causal Modeling of FMRI Time-Series for Interpretable Autism Spectrum Disorder Classification. 2025, 00: 1-5. DOI: 10.1109/isbi60581.2025.10980933.Peer-Reviewed Original ResearchFunctional magnetic resonance imagingAutism spectrum disorderState-of-the-art modelsState-of-the-artFMRI time seriesDeep learning classifierDeep learning modelsTime series informationLearning classifiersClassification accuracyNon-linear interactionsMachine learningLeft precuneusRight precuneusABIDE datasetBrain regionsLearning modelsASD populationSpectrum disorderDisorder classificationASD classificationBrain signalsASD biomarkersDevelopmental disordersCorrelation-based modelsThe Psychiatric Manifestations of Sturge Weber Syndrome: A Scoping Review.
Lee V, Girgis R. The Psychiatric Manifestations of Sturge Weber Syndrome: A Scoping Review. Journal Of Child Neurology 2025, 8830738251329444. PMID: 40232279, DOI: 10.1177/08830738251329444.Peer-Reviewed Original ResearchAttention-deficit hyperactivity disorderPsychiatric manifestationsImpact of psychiatric disordersAutism spectrum disorderMental health evaluationPsychotic symptomsPsychiatric vulnerabilityPsychiatric disordersHyperactivity disorderPsychiatric symptomsSpectrum disorderPsychiatric issuesSturge-Weber syndromeDisordersTreatment approachesPrevalence ratesElevated riskSymptomsFacial port-wine stainIndividualsSturge Weber syndromePsychiatricVariable prevalence ratesAutismAnxietyUnraveling the Neural Landscape of Mental Disorders using Double Functional Independent Primitives (dFIPs)
Soleimani N, Iraji A, Pearlson G, Preda A, Calhoun V. Unraveling the Neural Landscape of Mental Disorders using Double Functional Independent Primitives (dFIPs). Biological Psychiatry Cognitive Neuroscience And Neuroimaging 2025 PMID: 40222638, DOI: 10.1016/j.bpsc.2025.03.015.Peer-Reviewed Original ResearchAutism spectrum disorderFunctional network connectivityBipolar disorderPsychiatric conditionsMental disordersMental illnessResting-state functional magnetic resonance imagingFunctional magnetic resonance imagingConnectivity patternsBrain network alterationsFunctional connectivity patternsNeurobiological underpinningsDepressive disorderEmotion regulationNeural signaturesPsychiatric diagnosisConnectivity alterationsBrain regionsSpectrum disorderCognitive functionNeural landscapeCerebellar connectivitySocial behaviorNetwork alterationsSchizophreniaQualitative evaluation of meaningful change in Dravet syndrome as measured by the Vineland-3: Caregiver and clinician perspectives
Condon C, Parkerson K, Dandurand A, Wang F, Howse C, Mayhew M, Whyman S, Ventola P, Anne Meskis M, Sullivan J, Knupp K, Gater A, Mahon-Smith A. Qualitative evaluation of meaningful change in Dravet syndrome as measured by the Vineland-3: Caregiver and clinician perspectives. Epilepsy & Behavior 2025, 167: 110381. PMID: 40188607, DOI: 10.1016/j.yebeh.2025.110381.Peer-Reviewed Original ResearchConceptsVineland-3Presence of autism spectrum disorderVineland Adaptive Behavior ScalesAdaptive Behavior ScalesAutism spectrum disorderDravet syndromeCaregivers of children/adolescentsDisruptive behaviorSpectrum disorderBehavior ScaleClinical expertsClinically meaningful changeAdaptive behaviorReceptive communicationImpaired communicationThird editionAnchor-based methodsSemi-structured interviewsTreatment-related benefitsCaregiver feedbackClinician perspectivesMeaningful changePatient independenceCaregiversQualitative studyDisrupted Resting‐State Functional Connectivity in the Social Visual Pathway in Children With Autism Spectrum Disorder
Li C, Park H, Awasthi J, Rolison M, Li M, Scheinost D, Chawarska K, Hampson M. Disrupted Resting‐State Functional Connectivity in the Social Visual Pathway in Children With Autism Spectrum Disorder. Autism Research 2025, 18: 1024-1036. PMID: 40183221, DOI: 10.1002/aur.70037.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSuperior temporal sulcusResting-state functional connectivityFunctional connectivitySpectrum disorderMiddle superior temporal sulcusAutism Brain Imaging Data Exchange (ABIDEVisual motion areasVisual pathwaySignificant hypoconnectivityTD childrenTD groupTemporal sulcusRight hemisphereDorsal pathwaySocial difficultiesSocial symptomsSocial informationAutismDisordersChildrenMotion areaHypoconnectivityAnterior portionTDAutism-like atypical face processing in Shank3 mutant dogs
Yuan S, Pang C, Wu L, Yi L, Guo K, Jiang Y, Zhang Y, Han S. Autism-like atypical face processing in Shank3 mutant dogs. Science Advances 2025, 11: eadu3793. PMID: 40173245, PMCID: PMC11963970, DOI: 10.1126/sciadv.adu3793.Peer-Reviewed Original ResearchConceptsAtypical face processingAutism spectrum disorderFace processingCategorization of facesFace processing abilitiesWild-type controlsAttentional avoidanceNeurocognitive basisSocial deficitsCognitive markersTemporal cortexASD mechanismsSpectrum disorderNeural responsesFrontal/parietal regionsProcessing abilityAnimal modelsEffective animal modelRisk genesCortical responsesGenetic associationAutismFaceCortexSHANK3Microglial regulation of white matter development and its disruption in autism spectrum disorder
Canada K, Evans T, Pelphrey K. Microglial regulation of white matter development and its disruption in autism spectrum disorder. Cerebral Cortex 2025, 35: bhaf109. PMID: 40302613, DOI: 10.1093/cercor/bhaf109.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderMaternal immune activationWhite matter developmentSpectrum disorderPresentation of autism spectrum disorderService of perceptionCortical brain regionsBrain-resident immune cellsWhite matterResident immune cellsSocial cognitionCore symptomsWhite matter abnormalitiesBrain regionsBrain functionNeurodevelopmental disordersOL lineage cellsImmune dysregulationEfficient neuronal signalingImmune activationImmune cellsCytokine releaseMicroglial reactivityHuman brainLineage cellsA Blueprint for Translational Precision Medicine in Autism Spectrum Disorder and Related Neurogenetic Syndromes
Thom R, Warren T, Khan S, Muhle R, Wang P, Brennand K, Zürcher N, Veenstra-VanderWeele J, Hoffman E. A Blueprint for Translational Precision Medicine in Autism Spectrum Disorder and Related Neurogenetic Syndromes. Journal Of Child And Adolescent Psychopharmacology 2025, 35: 178-193. PMID: 40138183, DOI: 10.1089/cap.2025.0023.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderNeurogenetic syndromesSpectrum disorderNeurobiology of autism spectrum disordersRett syndromeTarget engagementEvaluation of target engagementPlacebo responseEvaluate target engagementClinical trialsClinical trial design strategiesIntermediate phenotypesPreclinical model systemsTreatment discoveryObjectives:</i></b>Trial design strategiesTrofinetideMolecular targetsNeurobiologyFace validityHuman clinical trialsPrecision medicineStem cell model systemsPrecision medicine approachIdentification of molecular targetsGaze Behavior During a Long-Term, In-Home, Social Robot Intervention for Children with ASD
Ramnauth R, Shic F, Scassellati B. Gaze Behavior During a Long-Term, In-Home, Social Robot Intervention for Children with ASD. 2025, 00: 949-957. DOI: 10.1109/hri61500.2025.10973892.Peer-Reviewed Original ResearchGaze behaviorGaze patternsRobot-assisted interventionsRobot gazeSocial robotsAutism spectrum disorderSocial robot interventionsRobotic interventionRobotGazeAtypical gaze behaviourEye contactJoint attentionUsersAutism spectrum disorder faceCommunication challengesInstancesSpectrum disorderNovelty effectIn-home interventionBehavioral variablesTriadic interactionsOxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogs
Lyu W, Li Y, Yao A, Tan Q, Zhang R, Zhao J, Guo K, Jiang Y, Tian R, Zhang Y. Oxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogs. Translational Psychiatry 2025, 15: 76. PMID: 40050270, PMCID: PMC11885833, DOI: 10.1038/s41398-025-03296-5.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderMutant damsWild-typeMaternal behaviorASD risk genesLicking behaviorAbundant scaffolding proteinImpaired social interactionEffects of oxytocinCRISPR/Cas9 methodologyRisk genesMutant dogsNursing frequencyOXT treatmentBehavioral deficitsRepetitive behaviorsPotential therapeutic strategySpectrum disorder
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