2024
Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Olfson E, Farhat L, Liu W, Vitulano L, Zai G, Lima M, Parent J, Polanczyk G, Cappi C, Kennedy J, Fernandez T. Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. Nature Communications 2024, 15: 5870. PMID: 38997333, PMCID: PMC11245598, DOI: 10.1038/s41467-024-50247-7.Peer-Reviewed Original ResearchConceptsDNA sequencesRisk genesHigh-confidence risk genesWhole-exome DNA sequencingSequencing of familiesIdentified de novoLysine demethylase 5BDNA variantsTrio cohortBiological pathwaysGenesSequencing cohortGenetic factorsChildhood neurodevelopmental disordersAttention-deficit/hyperactivity disorderSequenceVariantsADHD riskNeurodevelopmental disordersKDM5BDNAMutationsFamilyLysineDiscovery
2023
Characteristics of trichotillomania and excoriation disorder across the lifespan
Lin A, Farhat L, Flores J, Levine J, Fernandez T, Bloch M, Olfson E. Characteristics of trichotillomania and excoriation disorder across the lifespan. Psychiatry Research 2023, 322: 115120. PMID: 36842397, PMCID: PMC10023474, DOI: 10.1016/j.psychres.2023.115120.Peer-Reviewed Original ResearchConceptsExcoriation disorderClinical characteristicsSkin-picking severityAttention-deficit/hyperactivity disorderCo-occurring conditionsBody-focused repetitive behaviorsObsessive-compulsive disorderSeverity scoreCurrent symptomsSignificant positive correlationTrichotillomaniaHyperactivity disorderDisordersSelf-reported anxietyAge 4High rateSubtypesSelf-report measuresSeverityCross-sectional survey responsesRepetitive behaviorsAdulthoodPositive correlation
2019
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism
Cappi C, Oliphant ME, Péter Z, Zai G, Conceição do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biological Psychiatry 2019, 87: 1035-1044. PMID: 31771860, PMCID: PMC7160031, DOI: 10.1016/j.biopsych.2019.09.029.Peer-Reviewed Original Research
2018
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM, Study T, Abdulkadir M, Arbelaez J, Bodmer B, Bromberg Y, Brown L, Cheon K, Coffey B, Deng L, Dietrich A, Dong S, Duhn C, Elzerman L, Fernandez T, Fremer C, Garcia-Delgar B, Gilbert D, Grice D, Hagstrøm J, Hedderly T, Heiman G, Heyman I, Hoekstra P, Hong H, Huyser C, Kim E, Kim Y, Kim Y, King R, Koh Y, Kook S, Kuperman S, Leventhal B, Ludolph A, Madruga-Garrido M, Mandell J, Maras A, Mir P, Morer A, Morris M, Müller-Vahl K, Münchau A, Murphy T, Nasello C, Plessen K, Poisner H, Roessner V, Sanders S, Shin E, Song D, Song J, State M, Sun N, Thackray J, Tischfield J, Tübing J, Visscher F, Wanderer S, Wang S, Willsey A, Woods M, Xing J, Zhang Y, Zhao X, Zinner S, Initiative T, Androutsos C, Barta C, Farkas L, Fichna J, Georgitsi M, Janik P, Karagiannidis I, Koumoula A, Nagy P, Paschou P, Puchala J, Rizzo R, Szejko N, Szymanska U, Tarnok Z, Tsironi V, Wolanczyk T, Zekanowski C, Genetics T, Barr C, Batterson J, Berlin C, Bruun R, Budman C, Cath D, Chouinard S, Coppola G, Cox N, Darrow S, Davis L, Dion Y, Freimer N, Grados M, Hirschtritt M, Huang A, Illmann C, Kurlan R, Leckman J, Lyon G, Malaty I, Mathews C, MacMahon W, Neale B, Okun M, Osiecki L, Pauls D, Posthuma D, Ramensky V, Robertson M, Rouleau G, Sandor P, Scharf J, Singer H, Smit J, Sul J, Yu D, Fernandez T, Buxbaum J, De Rubeis S, Grice D, Xing J, Heiman G, Tischfield J, Paschou P, Willsey A, State M. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports 2018, 24: 3441-3454.e12. PMID: 30257206, PMCID: PMC6475626, DOI: 10.1016/j.celrep.2018.08.082.Peer-Reviewed Original ResearchConceptsCell polarityNumber variantsSequence variantsDe novo damaging variantsDe novoDe novo sequencesCopy number variantsNovo sequencesWhole-exome sequencingDamaging variantsRisk genesGenesCommon pathwayNovoSignificant overlapVariantsTriosGenetic riskSequencingCELSR3PathwayPolaritySequenceSignificant excessFamily
2017
Extended-Release Guanfacine Does Not Show a Large Effect on Tic Severity in Children with Chronic Tic Disorders
Murphy TK, Fernandez TV, Coffey BJ, Rahman O, Gavaletz A, Hanks CE, Tillberg CS, Gomez LI, Sukhodolsky DG, Katsovich L, Scahill L. Extended-Release Guanfacine Does Not Show a Large Effect on Tic Severity in Children with Chronic Tic Disorders. Journal Of Child And Adolescent Psychopharmacology 2017, 27: 762-770. PMID: 28723227, DOI: 10.1089/cap.2017.0024.Peer-Reviewed Original ResearchConceptsExtended-release guanfacineLack of efficacyChronic tic disorderGuanfacine groupPlacebo groupYGTSS total scoreAdverse eventsTotal scoreTic disordersYale Global Tic Severity Scale total scoreClinical Global Impressions-Improvement scaleCommon adverse eventsPlacebo-controlled trialKey secondary outcomesPrimary outcome measureLarger efficacy trialScale total scoreDry mouthSecondary outcomesPreliminary efficacyWeek 8Efficacy trialsOutcome measuresTic severityTourette's disorderInvestigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach
Abdulkadir M, Londono D, Gordon D, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Elzerman L, Fremer C, Fründt O, Garcia-Delgar B, Gilbert DL, Grice DE, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Jakubovski E, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Mir P, Morer A, Müller-Vahl K, Münchau A, Murphy TL, Plessen KJ, Roessner V, Shin EY, Song DH, Song J, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, King RA, Tischfield JA, Heiman GA, Hoekstra PJ, Dietrich A. Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. European Archives Of Psychiatry And Clinical Neuroscience 2017, 268: 301-316. PMID: 28555406, PMCID: PMC5708161, DOI: 10.1007/s00406-017-0808-8.Peer-Reviewed Original ResearchDe Novo Coding Variants Are Strongly Associated with Tourette Disorder
Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE, Genetics T, Abdulkadir M, Bohnenpoll J, Bromberg Y, Brown L, Cheon K, Coffey B, Deng L, Dietrich A, Dong S, Elzerman L, Fernandez T, Fründt O, Garcia-Delgar B, Gedvilaite E, Gilbert D, Grice D, Hagstrøm J, Hedderly T, Heiman G, Heyman I, Hoekstra P, Hong H, Huyser C, Ibanez-Gomez L, Kim Y, Kim Y, King R, Koh Y, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph A, da Silva C, Madruga-Garrido M, Mandell J, Maras A, Mir P, Morer A, Münchau A, Murphy T, Nasello C, Openneer T, Plessen K, Richer P, Roessner V, Sanders S, Shin E, Sival D, Smith L, Song D, Song J, State M, Stolte A, Sun N, Tischfield J, Tübing J, Visscher F, Walker M, Wanderer S, Wang S, Willsey A, Woods M, Xing J, Zhang Y, Zhou A, Zinner S, Genetics T, Barr C, Batterson J, Berlin C, Bruun R, Budman C, Cath D, Chouinard S, Coppola G, Cox N, Darrow S, Davis L, Dion Y, Freimer N, Grados M, Hirschtritt M, Huang A, Illmann C, Kurlan R, Leckman J, Lyon G, Malaty I, Mathews C, MaMahon W, Neale B, Okun M, Osiecki L, Pauls D, Posthuma D, Ramensky V, Robertson M, Rouleau G, Sandor P, Scharf J, Singer H, Smit J, Sul J, Yu D, Neale B, Coppola G, Mathews C, Tischfield J, Scharf J, State M, Heiman G. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron 2017, 94: 486-499.e9. PMID: 28472652, PMCID: PMC5769876, DOI: 10.1016/j.neuron.2017.04.024.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingTourette's disorderDamaging variantsLikely gene-disrupting variantsComplex neurodevelopmental disorderClinical casesUnrelated probandsNeurodevelopmental disordersDe novo damaging variantsDisordersRisk genesGenetic cohortsConsistent evidenceCoding variantReplication sampleProbandsInternational ConsortiumCohortVariantsNeurogenetic analysis of childhood disintegrative disorder
Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux C, Ristow A, Shic F, Volkmar FR, Pelphrey KA. Neurogenetic analysis of childhood disintegrative disorder. Molecular Autism 2017, 8: 19. PMID: 28392909, PMCID: PMC5379515, DOI: 10.1186/s13229-017-0133-0.Peer-Reviewed Original ResearchAdaptor Proteins, Signal TransducingAutism Spectrum DisorderBasic Helix-Loop-Helix Transcription FactorsBrainBrain MappingCase-Control StudiesChildChild, PreschoolChromosomes, Human, XDisease ProgressionDNA Copy Number VariationsExome SequencingFemaleGene ExpressionHumansIntellectual DisabilityMagnetic Resonance ImagingMaleMaternal InheritanceNuclear ProteinsPhenotypePolymorphism, GeneticSeverity of Illness IndexSiblingsTranscription FactorsTranscriptome
2016
Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder
Abdulkadir M, Tischfield JA, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, de Bruijn SF, Elzerman L, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Messchendorp MD, Mir P, Morer A, Münchau A, Murphy TL, Openneer TJ, Plessen KJ, Rath JJ, Roessner V, Fründt O, Shin EY, Sival DA, Song DH, Song J, Stolte AM, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, State MW, Heiman GA, Hoekstra PJ, Dietrich A. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder. Journal Of Psychiatric Research 2016, 82: 126-135. PMID: 27494079, PMCID: PMC5026935, DOI: 10.1016/j.jpsychires.2016.07.017.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedAged, 80 and overAttention Deficit Disorder with HyperactivityCase-Control StudiesChildChild, PreschoolEuropeFemaleHumansMaleMiddle AgedObsessive-Compulsive DisorderParent-Child RelationsPregnancyPregnancy ComplicationsPsychiatric Status Rating ScalesRepublic of KoreaRetrospective StudiesSeverity of Illness IndexSex FactorsTic DisordersTourette SyndromeUnited StatesYoung AdultConceptsCo-occurring obsessive-compulsive disorderChronic tic disorderAttention-deficit/hyperactivity disorderObsessive-compulsive disorderPerinatal complicationsTic disordersTourette syndromeUnaffected family controlsHyperactivity disorderNeonatal complicationsDelivery complicationsPremature birthClinical expressionMorning sicknessMedical attentionComplicationsSymptom severityPropensity scoreFirst weekDisordersEarly exposureADHD severitySeverityCollaborative Genetics StudySyndromeWhole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Translational Psychiatry 2016, 6: e764-e764. PMID: 27023170, PMCID: PMC4872454, DOI: 10.1038/tp.2016.30.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsPPI networkPathway analysisProtein-protein interaction networkGenome-wide association studiesNovo single nucleotide variantsParticular biological pathwaysRare genetic variationDisease gene prioritizationDirect molecular interactionWhole-exome sequencing studiesGene discoveryNetwork genesSpecific risk genesNetwork enrichmentGenetic variationInteraction networksGene prioritizationCandidate genesAssociation studiesBiological pathwaysSequencing platformsSequencing studiesWhole-exome sequencingGenes
2015
Tourette’s Syndrome and Translational Clinical Science
Fernandez TV, King RA, Pittenger C. Tourette’s Syndrome and Translational Clinical Science. Journal Of The American Academy Of Child & Adolescent Psychiatry 2015, 54: 6-8. PMID: 25524784, PMCID: PMC4502583, DOI: 10.1016/j.jaac.2014.11.004.Peer-Reviewed Original Research
2014
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular Psychiatry 2014, 20: 1350-1365. PMID: 25385366, PMCID: PMC4427554, DOI: 10.1038/mp.2014.141.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntineoplastic Combined Chemotherapy ProtocolsAutistic DisorderCarboplatinCell DifferentiationCell LineCell ProliferationCells, CulturedChildDisease Models, AnimalEmbryo, MammalianEtoposideGene Expression RegulationHumansIn Vitro TechniquesInduced Pluripotent Stem CellsInhibitory Postsynaptic PotentialsMaleMiceMice, Inbred C57BLMice, TransgenicMitoxantroneMutationNeuronsPrednisoloneSignal TransductionTRPC Cation ChannelsTRPC6 Cation ChannelConceptsHuman neuronsPluripotent stem cellsNon-syndromic autismMethyl-CpGNeuronal developmentNonsynonymous mutationsDental pulp cellsFunction mutationsHaploinsufficiency leadsFunctional studiesNeuronal cellsNeuronal phenotypeGenetic variantsStem cellsFactor 1Cation channelsNon-syndromic autism spectrum disorderInsulin-like growth factor-1Incomplete penetranceMutationsRett syndromeSuch variantsAutism spectrum disorderPulp cellsGrowth factor-1The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods
Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ, Heiman GA, the TIC Genetics Collaborative Group. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. European Child & Adolescent Psychiatry 2014, 24: 141-151. PMID: 24771252, PMCID: PMC4209328, DOI: 10.1007/s00787-014-0543-x.Peer-Reviewed Original ResearchConceptsGenetic studiesSimilar genetic architectureGene discovery effortsMultiply affected pedigreesSingle major geneParent-child triosGenetic architectureMultigenic inheritanceDe novo mutationsMajor geneGenomic researchCollaborative Genetics StudyAffected pedigreesDiscovery effortsGenetic variantsGenetic contributionGenetics ConsortiumNovo mutationsGenesRare variantsBroader scientific communityGenetic riskRecent progressGeneticsVariants
2013
Data Blitz Debuts at the AACAP Annual Meeting
Vanderwal T, Fernandez T. Data Blitz Debuts at the AACAP Annual Meeting. Journal Of Child And Adolescent Psychopharmacology 2013, 23: 306-307. PMID: 23782124, PMCID: PMC4104592, DOI: 10.1089/cap.2013.2352.Commentaries, Editorials and Letters
2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathwayMultiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron 2011, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.Peer-Reviewed Original ResearchAdolescentCadherinsCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalChildChild Development Disorders, PervasiveChild, PreschoolChromosomes, Human, Pair 16Chromosomes, Human, Pair 7Chromosomes, Human, XDNA Copy Number VariationsFamily HealthFemaleGene DuplicationGene Expression ProfilingGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNeural Cell Adhesion MoleculesOligonucleotide Array Sequence AnalysisPhenotypeProteinsSiblingsUbiquitin ThiolesteraseUbiquitin-Specific Peptidase 7Williams Syndrome
2008
Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome
Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome. American Journal Of Human Genetics 2008, 82: 1385. PMID: 18551756, PMCID: PMC2661627, DOI: 10.1016/j.ajhg.2008.04.021.Peer-Reviewed Original Research
2004
Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome
Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome. American Journal Of Human Genetics 2004, 74: 1286-1293. PMID: 15106122, PMCID: PMC1182094, DOI: 10.1086/421474.Peer-Reviewed Original ResearchMeSH KeywordsCell Adhesion Molecules, NeuronalChildChromosome BreakageChromosome DeletionChromosomes, Human, Pair 10Chromosomes, Human, Pair 3ContactinsCraniofacial AbnormalitiesDevelopmental DisabilitiesGene RearrangementGrowth DisordersHumansIn Situ Hybridization, FluorescenceKaryotypingMalePhenotypeRNA, MessengerSyndromeTelomereTranslocation, GeneticConceptsCentral nervous systemDevelopmental delayDeletion syndromeObserved clinical manifestationsAbnormal CNS developmentNeuronal cell adhesion moleculeClinical manifestationsCell adhesion moleculeNervous systemCharacteristic physical featuresGrowth retardationSyndromeDeletion syndrome phenotypeDysmorphic featuresAxon growthContiguous gene disorderImmunoglobulin super familyAdhesion moleculesSyndrome phenotypeCausative relationshipCNS developmentNeural developmentTelomeric portionRare contiguous gene disorderChromosome 3
2000
Premorbid Speech and Language Impairments in Childhood-Onset Schizophrenia: Association With Risk Factors
Nicolson R, Lenane M, Singaracharlu S, Malaspina D, Giedd JN, Hamburger SD, Gochman P, Bedwell J, Thaker GK, Fernandez T, Wudarsky M, Hommer DW, Rapoport JL. Premorbid Speech and Language Impairments in Childhood-Onset Schizophrenia: Association With Risk Factors. American Journal Of Psychiatry 2000, 157: 794-800. PMID: 10784474, DOI: 10.1176/appi.ajp.157.5.794.Peer-Reviewed Original ResearchConceptsChildhood-onset schizophreniaRisk factorsSchizophrenia spectrum disordersObstetrical complicationsMotor abnormalitiesDevelopmental impairmentMore obstetrical complicationsSmooth pursuit eye movementsChildhood-onset casesPathophysiology of schizophreniaEye-tracking dysfunctionLanguage-related brain regionsFamilial loading scoresFamilial risk factorsSocial impairmentNeurodevelopmental impairmentPremorbid abnormalitiesSpectrum disorderFamilial loadingPatientsLanguage impairmentBrain regionsSchizophreniaImpairmentAbnormalities
1999
Childhood-onset schizophrenia: progressive brain changes during adolescence
Giedd J, Jeffries N, Blumenthal J, Castellanos FX, Vaituzis A, Fernandez T, Hamburger S, Liu H, Nelson J, Bedwell J, Tran L, Lenane M, Nicolson R, Rapoport J. Childhood-onset schizophrenia: progressive brain changes during adolescence. Biological Psychiatry 1999, 46: 892-898. PMID: 10509172, DOI: 10.1016/s0006-3223(99)00072-4.Peer-Reviewed Original ResearchConceptsBrain anomaliesVentricular volumeTotal cerebrumLateral ventricleCOS groupDuration of illnessProgressive brain changesBrain magnetic resonanceStructural brain anomaliesBrain MRI studiesGender-matched controlsMean age 14Age-related changesAdult patientsAdult schizophreniaBrain changesMRI studiesControl groupLarger sample sizeBrain tissueBrain developmentHippocampusProgressionDiagnostic group differencesEarly adulthood