Search results for "ENDOPHENOTYPES"

showing 10 items of 13 documents

The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia

2020

Abstract Background Cognitive impairment is a clinically important feature of schizophrenia. Polygenic risk score (PRS) methods have demonstrated genetic overlap between schizophrenia, bipolar disorder (BD), major depressive disorder (MDD), educational attainment (EA), and IQ, but very few studies have examined associations between these PRS and cognitive phenotypes within schizophrenia cases. Methods We combined genetic and cognitive data in 3034 schizophrenia cases from 11 samples using the general intelligence factor g as the primary measure of cognition. We used linear regression to examine the association between cognition and PRS for EA, IQ, schizophrenia, BD, and MDD. The results wer…

Multifactorial InheritanceBipolar DisorderDatasets as TopicINTELLIGENCEGenome-wide association study0302 clinical medicinegenetics [Schizophrenia]education.field_of_studyHERITABILITYCOMMON VARIANTSCognitionbioinformaticsintelligencepsychiatryABILITYPsychiatry and Mental healthSchizophreniaMajor depressive disorderEducational Statuspsychiatry genomics intelligence bioinformaticsClinical psychologyPopulationgenetics [Psychotic Disorders]behavioral disciplines and activities03 medical and health sciencesmental disordersgenomicsmedicineHumansBipolar disorderddc:610GENOME-WIDE ASSOCIATIONeducationSettore MED/25 - PsichiatriaMETAANALYSISGenetic associationDepressive Disorder MajorENDOPHENOTYPESbusiness.industryMEMORYCONSORTIUMgenetics [Depressive Disorder Major]PERFORMANCEmedicine.disease030227 psychiatryPsychotic Disordersgenetics [Intelligence]EndophenotypeSchizophreniabusiness030217 neurology & neurosurgerygenetics [Bipolar Disorder]Regular ArticlesGenome-Wide Association Study
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Is processing speed a valid neurocognitive endophenotype in bipolar disorder? Evidence from a longitudinal, family study.

2021

[Background] Substantial evidence supports the existence of neurocognitive endophenotypes in bipolar disorder (BD), but very few longitudinal studies have included unaffected relatives. In a 5-year, follow-up, family study, we have recently suggested that deficits in manual motor speed and visual memory could be endophenotype candidates for BD. We aimed to explore whether this also applies to processing speed.

Longitudinal studyEndophenotypesBipolar disorderNeuropsychological TestsCognitionVisual memoryHumansMedicineLongitudinal StudiesBipolar disorderBiological Psychiatrybusiness.industryCognitionmedicine.diseaseFamily studyPsychiatry and Mental healthEndophenotypeMoodEndophenotypeDigit symbol substitution testLongitudinal studyCognition DisordersbusinessProcessing speedNeurocognitiveClinical psychology
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Individual alpha peak frequency, an important biomarker for live Z-Score training neurofeedback in adolescents with learning disabilities

2021

Learning disabilities (LDs) have an estimated prevalence between 5% and 9% in the pediatric population and are associated with difficulties in reading, arithmetic, and writing. Previous electroencephalography (EEG) research has reported a lag in alpha-band development in specific LD phenotypes, which seems to offer a possible explanation for differences in EEG maturation. In this study, 40 adolescents aged 10–15 years with LDs underwent 10 sessions of Live Z-Score Training Neurofeedback (LZT-NF) Training to improve their cognition and behavior. Based on the individual alpha peak frequency (i-APF) values from the spectrogram, a group with normal i-APF (ni-APF) and a group with low i-APF (li-…

medicine.medical_specialtyneurofeedback; Z-score training; learning disabilities; endophenotypes; alpha peak frequency; QEEGEndophenotypesAlpha (ethology)QEEGAudiologyStandard scoreElectroencephalographyArticle050105 experimental psychologylcsh:RC321-57103 medical and health sciences0302 clinical medicinemedicine0501 psychology and cognitive scienceslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryLearning disabilitiesmedicine.diagnostic_testbusiness.industryGeneral Neuroscience05 social sciencesCognitionNeurofeedbackPsicologíaEndophenotypeLearning disabilityZ-score trainingBiomarker (medicine)Alpha peak frequencyNeurofeedbackmedicine.symptombusiness030217 neurology & neurosurgery
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Manual motor speed dysfunction as a neurocognitive endophenotype in euthymic bipolar disorder patients and their healthy relatives. Evidence from a 5…

2017

Background: Few studies have examined Manual Motor Speed (MMS) in bipolar disorder (BD). The aim of this longitudinal, family study was to explore whether dysfunctional MMS represents a neurocognitive endophenotype of BD. Methods: A sample of 291 subjects, including 131 BD patients, 77 healthy first-degree relatives (BD-Rel), and 83 genetically-unrelated healthy controls (HC), was assessed with the Finger-Tapping Test (En) on three occasions over a 5-year period. Dependence of FTT on participants' age was removed by means of a lineal model of HC samples, while correcting simultaneously the time and learning effect. Differences between groups were evaluated with an ANOVA test. Results: The p…

AdultMalemedicine.medical_specialtyLongitudinal studyBipolar DisorderAdolescentEndophenotypesBipolar disorderDysfunctional familyAffect (psychology)Young AdultManual motor speed03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansFamilyMotor speedLongitudinal StudiesBipolar disorderPsychiatryNeurocognitionAgedAnalysis of VarianceCarbamazepineMiddle Agedmedicine.diseaseFamily study030227 psychiatryMotor Skills DisordersEndophenotypePsychiatry and Mental healthClinical PsychologyMotor SkillsCase-Control StudiesEndophenotypeFemaleLongitudinal studyPsychologyNeurocognitivePsychomotor Performance030217 neurology & neurosurgerymedicine.drug
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An Autistic Endophenotype and Testosterone Are Involved in an Atypical Decline in Selective Attention and Visuospatial Processing in Middle-Aged Women

2015

Mothers of offspring with autism spectrum disorders (ASD) could present mild forms of their children’s cognitive characteristics, resulting from prenatal brain exposure and sensitivity to testosterone (T). Indeed, their cognition is frequently characterized by hyper-systemizing, outperforming in tests that assess cognitive domains such as selective attention, and fine motor and visuospatial skills. In the general population, all these start to decline around the mid-forties. This study aimed to characterize whether middle-aged women who are biological mothers of individuals with ASD had better performance in the aforementioned cognitive skills than mothers of normative children (in both gro…

AdultAgingAutism Spectrum DisorderEndophenotypesHealth Toxicology and MutagenesisPopulationselective attentionMotherslcsh:Medicinebehavioral disciplines and activitiesArticleDevelopmental psychologymedicineHumansAttentionCognitive skillCognitive declineAutistic Disordereducationcaregivereducation.field_of_studylcsh:RPublic Health Environmental and Occupational HealthCognitionMiddle AgedAutism spectrum disordersmedicine.diseaseAutism spectrum disorderSpainAutism spectrum disorders; caregiver; selective attention; testosterone; womenEndophenotypetestosteroneAgnosiaAutismFemalewomenPsychologyStroop effectInternational Journal of Environmental Research and Public Health
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Perceptual Pseudoneglect in Schizophrenia: Candidate Endophenotype and the Role of the Right Parietal Cortex

2013

Several contributions have reported an altered expression of pseudoneglect in psychiatric disorders, highlighting the existence of an anomalous brain lateralization in affected subjects. Surprisingly, no studies have yet investigated pseudoneglect in first-degree relatives (FdR) of psychiatric patients. We investigated performance on “paper and pencil” line bisection (LB) tasks in 68 schizophrenic patients (SCZ), 42 unaffected FdR, 41 unipolar depressive patients (UP), and 103 healthy subjects (HS). A subgroup of 20 SCZ and 16 HS underwent computerized LB and mental number line bisection (MNL) tasks requiring judgment of prebisected lines and numerical intervals. Moreover, we evaluated, in …

AdultMalemedicine.medical_specialtyEndophenotypesBisectionmedicine.medical_treatmentPosterior parietal cortexAudiologyFunctional LateralityLateralization of brain functionNOPerceptual DisordersYoung Adultschizophrenia brain stimulationParietal LobemedicineHumansFamilyYoung Adult; Humans; Endophenotypes; Depressive Disorder; Parietal Lobe; Schizophrenia; Adult; Case-Control Studies; Schizophrenic Psychology; Space Perception; Family; Middle Aged; Perceptual Disorders; Female; Functional Laterality; MaleSettore MED/25 - PsichiatriaDepressive DisorderSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaTranscranial direct-current stimulationParietal lobeRegular ArticleMiddle Agedmedicine.diseasePsychiatry and Mental healthSchizophreniaCase-Control StudiesSpace PerceptionEndophenotypeLateralitySchizophreniaSchizophrenic PsychologyFemalePsychologyCognitive psychologySchizophrenia Bulletin
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Increased impulsivity as a vulnerability marker for bipolar disorder: Evidence from self-report and experimental measures in two high-risk populations

2015

Abstract Background Heightened impulsivity has been suggested as a possible risk factor for bipolar disorder (BD). However, studies on high-risk populations are scarce and have mainly focused on individuals with a genetic risk. The present study investigated two high-risk samples for BD with regard to several aspects of the impulsivity construct. Methods Unaffected relatives of BD patients (genetically defined high-risk group, N=29) and participants scoring high on the Hypomanic Personality Scale (psychometrically defined high-risk sample, N=25) were being compared to respective control groups (N=27 and N=25) using a multi-method approach. Participants were accessed on the Barratt Impulsive…

AdultMalemedicine.medical_specialtyBipolar DisorderPersonality InventoryEndophenotypesVulnerabilityStop signalImpulsivityYoung AdultRisk FactorsmedicineHumansFamilyBipolar disorderFirst-degree relativesRisk factorPsychiatrymedicine.diseasePsychiatry and Mental healthClinical PsychologyCross-Sectional StudiesCase-Control StudiesEndophenotypeImpulsive BehaviorTraitFemaleSelf Reportmedicine.symptomPsychologyPersonalityJournal of Affective Disorders
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Hippocampal overexpression of Nos1ap promotes endophenotypes related to mental disorders

2021

Abstract Background Nitric oxide synthase 1 adaptor protein (NOS1AP; previously named CAPON) is linked to the glutamatergic postsynaptic density through interaction with neuronal nitric oxide synthase (nNOS). NOS1AP and its interaction with nNOS have been associated with several mental disorders. Despite the high levels of NOS1AP expression in the hippocampus and the relevance of this brain region in glutamatergic signalling as well as mental disorders, a potential role of hippocampal NOS1AP in the pathophysiology of these disorders has not been investigated yet. Methods To uncover the function of NOS1AP in hippocampus, we made use of recombinant adeno-associated viruses to overexpress muri…

MaleMedicine (General)Research paperDendritic spineEndophenotypesNOS1APGene ExpressionHippocampusnNOS610 Medicine & healthNitric Oxide Synthase Type IHippocampal formationBiologyHippocampusSpatial memoryGeneral Biochemistry Genetics and Molecular BiologyMiceGlutamatergicR5-920NOS1APnitric oxideCAPONAnimalsNOS-I610 Medicine & healthAdaptor Proteins Signal TransducingMental DisordersRGeneral MedicineGlutamatergic postsynaptic densityNeuropsychopharmacologyDisease Models Animalpsychiatric disordersGene Expression Regulationnervous systemMedicineDisease SusceptibilityDisks Large Homolog 4 ProteinNeuroscienceBiomarkersProtein BindingSignal Transduction
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Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large…

2016

PLoS one 11(4), e0152984 (2016). doi:10.1371/journal.pone.0152984

Male0301 basic medicineNicotinic Acetylcholine ReceptorsPhysiologyEvent-Related Potentialslcsh:MedicineReceptors NicotinicElectroencephalography600 Technik Medizin angewandte Wissenschaften::610 Medizin und GesundheitBiochemistryExonCognitionMathematical and Statistical Techniques0302 clinical medicineMedizinische FakultätGermanyMedicine and Health Scienceslcsh:ScienceCerebral CortexClinical NeurophysiologyGeneticsBrain MappingN100education.field_of_studyMultidisciplinarymedicine.diagnostic_testSmokingBrainElectroencephalographyTobacco Use DisorderTemporal LobeFrontal LobeElectrophysiologyNicotinic acetylcholine receptorBioassays and Physiological AnalysisBrain ElectrophysiologyPhysical SciencesRegression AnalysisFemaleAnatomyFunction and Dysfunction of the Nervous SystemStatistics (Mathematics)Research ArticleSignal TransductionAdultTransmembrane ReceptorsImaging TechniquesEndophenotypesCognitive NeurosciencePopulation610NeurophysiologyNeuroimagingSingle-nucleotide polymorphism-Linear Regression AnalysisBiologyResearch and Analysis MethodsPolymorphism Single Nucleotide03 medical and health sciencesDiagnostic MedicineEvent-related potentialReaction TimemedicineHumansddc:610Statistical MethodseducationElectrophysiological Techniqueslcsh:RBiology and Life SciencesProteinsCell BiologyElectrophysiological Phenomena030104 developmental biologyAcetylcholine ReceptorsEndophenotypeCognitive Sciencelcsh:QMathematics030217 neurology & neurosurgeryNeuroscience
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Visual memory dysfunction as a neurocognitive endophenotype in bipolar disorder patients and their unaffected relatives. Evidence from a 5-year follo…

2019

BACKGROUND: Scarce research has focused on Visual Memory (VM) deficits as a possible neurocognitive endophenotype of bipolar disorder (BD). The main aim of this longitudinal, family study with healthy controls was to explore whether VM dysfunction represents a neurocognitive endophenotype of BD. METHODS: Assessment of VM by Rey-Osterrieth Complex Figure Test (ROCF) was carried out on a sample of 317 subjects, including 140 patients with BD, 60 unaffected first-degree relatives (BD-Rel), and 117 genetically-unrelated healthy controls (HC), on three occasions over a 5-year period (T1, T2, and T3). BD-Rel group scores were analyzed only at T1 and T2. RESULTS: Performance of BD patients was sig…

AdultMalemedicine.medical_specialtyLongitudinal study5 year follow upClinical variablesBipolar DisorderAdolescentEndophenotypesHealth StatusDiseaseAudiologyNeuropsychological TestsFamily Study03 medical and health sciencesYoung Adult0302 clinical medicineCognitionVisual memoryMedicineLongitudinal StudyHumansBipolar disorderLongitudinal StudiesNeurocognitionAgedMemory Disordersbusiness.industryMiddle Agedmedicine.diseaseFamily study030227 psychiatryVisual MemoryPsychiatry and Mental healthClinical PsychologyEndophenotypeEndophenotypeFemaleLongitudinal studyVisual memorybusinessNeurocognitive030217 neurology & neurosurgeryFollow-Up Studies
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