2023
Autistic Symptoms, Irritability, and Executive Dysfunctions: Symptom Dynamics from Multi-Network Models
Lee K, Gau S, Tseng W. Autistic Symptoms, Irritability, and Executive Dysfunctions: Symptom Dynamics from Multi-Network Models. Journal Of Autism And Developmental Disorders 2023, 54: 3078-3093. PMID: 37453959, DOI: 10.1007/s10803-023-05981-0.Peer-Reviewed Original ResearchAutism spectrum disorderIrritability symptomsExecutive functionExecutive dysfunctionAutistic symptomsCognitive-behavioral mechanismsSocial communication difficultiesRelative importance networksSample of childrenNeurotypical peersElevated irritabilityASD diagnosisSpectrum disorderBridge symptomsCommunication difficultiesTemper outburstsPredictive pathSymptom dynamicsUnaffected siblingsPartial correlationMoodEntire sampleIrritabilitySpecific relationSymptom nodesExamining the association between exposome score for schizophrenia and cognition in schizophrenia, siblings, and healthy controls: Results from the EUGEI study
Fusar-Poli L, Prachason T, Erzin G, Pries L, Brondino N, Politi P, Delespaul P, Kenis G, Luykx J, Lin B, Richards A, Akdede B, Binbay T, Altınyazar V, Yalınçetin B, Gümüş-Akay G, Cihan B, Soygür H, Ulaş H, Cankurtaran E, Kaymak S, Mihaljevic M, Andric-Petrovic S, Mirjanic T, Bernardo M, Mezquida G, Amoretti S, Bobes J, Saiz P, García-Portilla M, Sanjuan J, Escarti M, Santos J, Jiménez-López E, Arrojo M, Carracedo A, López G, González-Peñas J, Parellada M, Maric N, Atbaşoğlu C, Üçok A, Alptekin K, Saka M, Arango C, O'Donovan M, van Os J, Rutten B, Guloksuz S, investigators G. Examining the association between exposome score for schizophrenia and cognition in schizophrenia, siblings, and healthy controls: Results from the EUGEI study. Psychiatry Research 2023, 323: 115184. PMID: 37015164, DOI: 10.1016/j.psychres.2023.115184.Peer-Reviewed Original ResearchConceptsBenton Facial Recognition TestDegraded Facial Affect Recognition TaskWechsler Adult Intelligence Scale-Third EditionSchizophrenia spectrum disordersSocial cognitionCognitive domainsFacial affect recognition taskAffect recognition taskFacial Recognition TestCognitive impairmentRecognition testSpectrum disorderRecognition taskCross-sectional sampleHealthy controlsCognitionPsychosis spectrumShort versionUnaffected siblingsNeurocognitionEUGEI studySchizophreniaPerceptionImpairmentSiblingsAssociations between genetic liabilities to smoking behavior and schizophrenia symptoms in patients with a psychotic disorder, their siblings and healthy controls
Lin B, Vermeulen J, Bolhuis K, Chang X, Schirmbeck F, van Eijk K, investigators G, Alizadeh B, Bartels-Velthuis A, van Amelsvoort T, Bruggeman R, Cahn W, de Haan L, Rutten B, Guloksuz S, Luykx J, van Os J, Simons C, van Winkel R, Guloksuz S, Blankers M, van den Brink W, de Haan L, Luykx J. Associations between genetic liabilities to smoking behavior and schizophrenia symptoms in patients with a psychotic disorder, their siblings and healthy controls. Psychiatry Research 2023, 323: 115143. PMID: 36948018, DOI: 10.1016/j.psychres.2023.115143.Peer-Reviewed Original ResearchConceptsHealthy controlsSmoking behaviorPsychotic symptomsSchizophrenia symptomsUnaffected siblingsProspective cohort studySix-year followMental health symptomsSymptom dimensionsCohort studyRisk factorsDepressive symptomsPsychotic disordersPatientsPositive symptomsHealth symptomsNegative symptomsSimilar effect sizesSymptomsLinear mixed-effects modelsMixed-effects modelsGenetic riskMean numberPolygenic scoresOverall sampleExamining the association between exposome score for schizophrenia and cognition in schizophrenia, siblings, and healthy controls: Findings from the EUGEI study
Fusar-Poli L, Investigators E, Investigators G, van Os J, Rutten B, Guloksuz S. Examining the association between exposome score for schizophrenia and cognition in schizophrenia, siblings, and healthy controls: Findings from the EUGEI study. European Psychiatry 2023, 66: s445-s445. PMCID: PMC10434418, DOI: 10.1192/j.eurpsy.2023.957.Peer-Reviewed Original ResearchWechsler Adult Intelligence ScaleSchizophrenia spectrum disordersSocial cognitionFacial emotion recognition taskUnaffected siblingsEmotion recognition taskAdult Intelligence ScaleDisclosure of interestCognitive domainsIntelligence ScaleSpectrum disorderRecognition taskCognitionHealthy controlsNeurocognitionLongitudinal studyPresent cross-sectional studyEUGEI studyMolecular genetic riskSchizophrenia
2020
Executive functions in youths with autism spectrum disorder and their unaffected siblings
Seng GJ, Tseng WL, Chiu YN, Tsai WC, Wu YY, Gau SS. Executive functions in youths with autism spectrum disorder and their unaffected siblings. Psychological Medicine 2020, 51: 2571-2580. PMID: 32349803, DOI: 10.1017/s0033291720001075.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSpatial working memoryExecutive function tasksExecutive functionASD youthWorking memoryFunction tasksCognitive endophenotypesSpatial spanExecutive dysfunctionSpectrum disorderUnaffected siblingsCambridge Neuropsychological Test Automated BatteryAttention-deficit/hyperactivity disorderPotential cognitive endophenotypesExtra-dimensional shiftPlanning/problemVisuospatial working memoryBackward digit recallMain cognitive theoriesStockings of CambridgeDigit span testEvidence of deficitsCognitive theoryDigit recall
2019
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum
Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum. Molecular Case Studies 2019, 5: a003699. PMID: 30819764, PMCID: PMC6549552, DOI: 10.1101/mcs.a003699.Peer-Reviewed Original ResearchConceptsPrimary pulmonary hypoplasiaPulmonary hypoplasiaPhenotypic spectrumEvidence of cardiomyopathyPremature ovarian insufficiencyAbsence of cardiomyopathyCompound heterozygous variantsWhole-exome sequencingOvarian insufficiencyAARS2 geneCompound HeterozygousHeterozygous variantsCardiomyopathyNewborn siblingsCarrier statusFurther delineationHypoplasiaUnaffected siblingsMitochondrial cardiomyopathySiblingsFirst reportLeukoencephalopathyPsychometric liability to psychosis and childhood adversities are associated with shorter telomere length: A study on schizophrenia patients, unaffected siblings, and non-clinical controls
Çevik B, Mançe-Çalışır Ö, Atbaşoğlu E, Saka M, Alptekin K, Üçok A, Sırmatel B, Gülöksüz S, Tükün A, van Os J, Gümüş-Akay G. Psychometric liability to psychosis and childhood adversities are associated with shorter telomere length: A study on schizophrenia patients, unaffected siblings, and non-clinical controls. Journal Of Psychiatric Research 2019, 111: 169-185. PMID: 30776705, DOI: 10.1016/j.jpsychires.2019.01.022.Peer-Reviewed Original ResearchConceptsShorter telomere lengthLonger telomere lengthChildhood adversityTelomere lengthUnaffected siblingsSCZ patientsChronic medical disordersCourse of schizophreniaSimilar telomere lengthPsychotic-like symptomsHypothesis patientsClinical presentationNon-clinical controlsMedical disordersGeneral populationFunctioning scoresPatientsSchizophrenia patientsSocio-demographic featuresGlobal assessmentEarly onsetSchizophreniaLife expectancyAges 0Potential roleA suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings
Gu F, Wu A, Gordon M, Vlahos L, Macnamara S, Burke E, Malicdan M, Adams D, Tifft C, Toro C, Gahl W, Markello T. A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Genetics In Medicine 2019, 21: 1772-1780. PMID: 30700791, PMCID: PMC6669106, DOI: 10.1038/s41436-019-0434-0.Peer-Reviewed Original Research
2018
Higher schizotypy predicts better metabolic profile in unaffected siblings of patients with schizophrenia
Atbasoglu E, Gumus-Akay G, Guloksuz S, Saka M, Ucok A, Alptekin K, Gullu S, van Os J. Higher schizotypy predicts better metabolic profile in unaffected siblings of patients with schizophrenia. Psychopharmacology 2018, 235: 1029-1039. PMID: 29306964, DOI: 10.1007/s00213-017-4818-z.Peer-Reviewed Original ResearchConceptsInsulin resistanceDopaminergic activityMetabolic profileHomeostatic model assessmentHDL-C levelsBetter metabolic profilesFavorable metabolic profilePancreatic insulin secretionUnaffected siblingsBeads taskResultsInsulin resistanceTertile groupRegression modelsCentral actionInsulin secretionGeneral populationGenetic predispositionGlucose metabolismModel assessmentSZ patientsRegulatory roleDirect actionSignificant predictorsHigher likelihoodLongitudinal study
2015
Trait-level temporal lobe hypoactivation to social exclusion in unaffected siblings of children and adolescents with autism spectrum disorders
Bolling DZ, Pelphrey KA, Vander Wyk B. Trait-level temporal lobe hypoactivation to social exclusion in unaffected siblings of children and adolescents with autism spectrum disorders. Developmental Cognitive Neuroscience 2015, 13: 75-83. PMID: 26011751, PMCID: PMC4470300, DOI: 10.1016/j.dcn.2015.04.007.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSpectrum disorderPosterior superior temporal sulcusUnaffected siblingsAtypical neural processingSocial exclusionFunctional magnetic resonance imagingSuperior temporal sulcusAbnormal neural responsesAnterior temporoparietal junctionAnterior cingulate cortexEmotion processingTemporoparietal junctionNegative affectTemporal sulcusNeural processingBrain responsesNeural endophenotypesNeural responsesNeural activationCingulate cortexNeural circuitrySocial experienceASD probandsPowerful feelings
2010
Neural signatures of autism
Kaiser MD, Hudac CM, Shultz S, Lee SM, Cheung C, Berken AM, Deen B, Pitskel NB, Sugrue DR, Voos AC, Saulnier CA, Ventola P, Wolf JM, Klin A, Vander Wyk B, Pelphrey KA. Neural signatures of autism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 21223-21228. PMID: 21078973, PMCID: PMC3000300, DOI: 10.1073/pnas.1010412107.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderNeural signaturesBiological motionBrain responsesUnaffected siblingsDistinct brain responsesFunctional magnetic resonanceAreas of dysfunctionNature of disruptionTD childrenSpectrum disorderDisorder heterogeneityNeural systemsBrain circuitryBehavioral profileCompensatory activitySystem-level mechanismsTrait activityAutismChildrenIncreased genetic riskGenetic riskState activityNeuroendophenotypesDisorders
1998
Brain changes in schizophrenia
Sharma T, Lancaster E, Lee D, Lewis S, Sigmundsson T, Takei N, Gurling H, Barta P, Pearlson G, Murray R. Brain changes in schizophrenia. The British Journal Of Psychiatry 1998, 173: 132-138. PMID: 9850225, DOI: 10.1192/bjp.173.2.132.Peer-Reviewed Original ResearchConceptsLarger lateral ventriclesControl subjectsUnrelated control subjectsLateral ventricleSmaller whole brainLateral ventricular enlargementStructural brain abnormalitiesNormal control subjectsObligate carriersGenetic liabilityVentricular enlargementSample of peopleBrain abnormalitiesBrain changesWhole brainCerebellar volumeBrain structuresMagnetic resonance imagesSchizophreniaVentricleUnaffected siblingsReconstructed magnetic resonance imagesResonance imagesAbnormalitiesVolumetric measurements
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