2024
Health Care for Youth With Neurodevelopmental Disabilities: A Consensus Statement.
Weitzman C, Nadler C, Blum N, Augustyn M. Health Care for Youth With Neurodevelopmental Disabilities: A Consensus Statement. Pediatrics 2024, 153 PMID: 38596852, DOI: 10.1542/peds.2023-063809.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentChildConsensusHealth Services AccessibilityHumansNeurodevelopmental DisordersConceptsHealth careConsensus statementSafe care deliveryCaregivers of individualsHealth care experiencesHealth care barriersNominal group techniqueConsensus panel membersPediatric research networkHealth care billCare barriersSafe careCare deliveryCare experiencesHealth outcomesNeurodevelopmental disabilitiesEvidence-informedImprove equitySupport accessCommunity advocatesCare BillCareSteering CommitteeConsensus panelHealth
2023
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C, Bal V, Langley K, Martin J, Hoekstra P, Dietrich A, Xing J, Heiman G, Tischfield J, Fernandez T, Owen M, O’Donovan M, Thapar A, State M, Willsey A. Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nature Communications 2023, 14: 8077. PMID: 38057346, PMCID: PMC10700338, DOI: 10.1038/s41467-023-43776-0.Peer-Reviewed Original ResearchMeSH KeywordsAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderAutistic DisorderFemaleHumansMaleNeurodevelopmental DisordersTourette SyndromeConceptsDamaging variantsHigh-confidence ASD risk genesExome-wide significanceRare genetic variationASD risk genesRare damaging variantsHemizygous natureWhole-exome sequencing studiesExome sequencing studiesGene discoveryMultiple neurodevelopmental disordersGenetic variationGenetic mechanismsChr XMale sex biasSequencing studiesChromosome XRisk genesTransmission disequilibrium testAttention-deficit/hyperactivity disorderASD probandsAutism spectrum disorderASD familiesSex biasInformative recombinationsTRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Almousa H, Lewis S, Bakhtiari S, Nordlie S, Pagnozzi A, Magee H, Efthymiou S, Heim J, Cornejo P, Zaki M, Anwar N, Maqbool S, Rahman F, Neilson D, Vemuri A, Jin S, Yang X, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel A, Tomoum H, Shata M, Hashem M, Toosi M, Karimiani E, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent J, Innes A, Dursun A, Özgül R, Akar H, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat L, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer M. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain 2023, 147: 311-324. PMID: 37713627, PMCID: PMC10766242, DOI: 10.1093/brain/awad301.Peer-Reviewed Original ResearchAnimalsDystoniaEpilepsyHumansIntellectual DisabilityMicrocephalyNeurodevelopmental DisordersVesicular Transport ProteinsCaregiver Satisfaction with Emergency Department Care for Pediatric Patients with Neurodevelopmental Disorders
Heyming T, Knudsen-Robbins C, Davis K, Moreno T, Martin S, Shelton S, Ehwerhemuepha L, Kain Z. Caregiver Satisfaction with Emergency Department Care for Pediatric Patients with Neurodevelopmental Disorders. Journal Of Developmental And Behavioral Pediatrics 2023, 44: e388-e393. PMID: 37205728, DOI: 10.1097/dbp.0000000000001193.Peer-Reviewed Original ResearchMeSH KeywordsCaregiversChildEmergency Service, HospitalHumansNeurodevelopmental DisordersPatient SatisfactionTriageConceptsCaregivers of patientsED satisfactionNeurodevelopmental disordersMultivariable logistic regression modelElectronic medical record dataTenth Revision codesEmergency department careMedical record dataCohort sample sizeEmergency Severity IndexAttention-deficit/hyperactivity disorderEmergency department experienceLogistic regression modelsHealth care systemED lengthPediatric patientsRevision codesCaregiver satisfactionProvider assessmentInternational ClassificationLower oddsPatientsNDD cohortPatient careSpecific developmental disordersPandemic city: Village-in-a-dish unlocks dynamic genetic effects in the brain
Seah C, Brennand K. Pandemic city: Village-in-a-dish unlocks dynamic genetic effects in the brain. Cell Stem Cell 2023, 30: 239-241. PMID: 36868190, DOI: 10.1016/j.stem.2023.02.002.Peer-Reviewed Original ResearchMeSH KeywordsBrainHumansIn Situ HybridizationNeurodevelopmental DisordersPandemicsStem CellsZika VirusZika Virus Infection
2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Cali E, Suri M, Scala M, Ferla M, Alavi S, Faqeih E, Bijlsma E, Wigby K, Baralle D, Mehrjardi M, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov D, Jacober J, Littlejohn R, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Silfhout A, Herenger Y, Dehghani M, Seyedhassani S, Bahreini A, Nasab M, Ercan-Sencicek A, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani E, Salpietro V, Taylor J, Redman M, Stegmann A, Laner A, Abdel-Salam G, Li M, Bengala M, Müller A, Digilio M, Rauch A, Gunel M, Titheradge H, Schweitzer D, Kraus A, Valenzuela I, McLean S, Phornphutkul C, Salih M, Begtrup A, Schnur R, Torti E, Haack T, Prada C, Alkuraya F, Houlden H, Maroofian R. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics In Medicine 2022, 25: 135-142. PMID: 36399134, PMCID: PMC10620944, DOI: 10.1016/j.gim.2022.09.016.Peer-Reviewed Original ResearchMeSH KeywordsBrachydactylyDwarfismHumansIntellectual DisabilityMusculoskeletal AbnormalitiesNeurodevelopmental DisordersObesityPhenotypeProtein-Arginine N-MethyltransferasesConceptsShort statureClinical characteristicsSyndromic neurodevelopmental disorderNeurodevelopmental disordersSevere developmental delay/intellectual disabilityPhenotypic spectrumDetailed clinical characteristicsDevelopmental delay/intellectual disabilityMain clinical characteristicsProminent supraorbital ridgesThin upper lipBroad nasal tipProtein arginine methyltransferase 7Endocrine abnormalitiesEye abnormalitiesClinical informationIntellectual developmental disabilitiesPathogenic variantsShort noseVariable findingsNatural historyBifrontal narrowingNasal tipUpper lipLower lipAssociations of Mitochondrial Function, Stress, and Neurodevelopmental Outcomes in Early Life: A Systematic Review
Zhao T, Alder N, Starkweather A, Chen M, Matson A, Xu W, Balsbaugh J, Cong X. Associations of Mitochondrial Function, Stress, and Neurodevelopmental Outcomes in Early Life: A Systematic Review. Developmental Neuroscience 2022, 44: 438-454. PMID: 35995037, PMCID: PMC9928905, DOI: 10.1159/000526491.Peer-Reviewed Original ResearchMeSH KeywordsFemaleHumansInfantInfant, NewbornInfant, PrematureMitochondriaNeurodevelopmental DisordersPregnancyStress, PhysiologicalConceptsNeurodevelopmental outcomesPreterm infantsEarly life stressPostnatal stressSystematic reviewInfluence neurodevelopmental outcomesMitochondrial function/dysfunctionEarly lifeAssociated with stress exposurePreferred Reporting ItemsFull-termPrimary research articlesBIOSIS databasesInfluence of biological sexLife stressLack of longitudinal dataInfant stressInfantsReporting ItemsPretermInvasive samplingOutcomesStress exposureBehavioral changesFunction/dysfunctionAutoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants
Bircher JE, Corcoran EE, Lam TT, Trnka MJ, Koleske AJ. Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants. Journal Of Biological Chemistry 2022, 298: 102361. PMID: 35963430, PMCID: PMC9467883, DOI: 10.1016/j.jbc.2022.102361.Peer-Reviewed Original ResearchMeSH KeywordsCytoskeletal ProteinsCytoskeletonGuanineHumansMonomeric GTP-Binding ProteinsNeurodevelopmental DisordersSpectrinConceptsSpectrin repeatsGEF1 domainPleckstrin homology regionExchange factor domainKey regulatory mechanismCytoskeletal regulatory proteinsSmall GTPase Rac1Autoinhibitory constraintsAccessory domainsNeurodevelopmental disordersGEF activityMultiple neurodevelopmental disordersKinase domainHomology regionProtein TrioGTPase Rac1Regulatory proteinsRegulatory mechanismsFactor domainSRS-6Genetic variantsGef1Disease variantsEnzymatic activityBio-Layer InterferometryComplex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder
Grosso B, Kramer A, Tyagi S, Bennett D, Tifft C, D’Souza P, Wangler M, Macnamara E, Meza U, Bannister R. Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder. Scientific Reports 2022, 12: 9186. PMID: 35655070, PMCID: PMC9163077, DOI: 10.1038/s41598-022-12789-y.Peer-Reviewed Original ResearchMeSH KeywordsAtaxiaCalcium ChannelsCalcium Channels, N-TypeChannelopathiesHumansMuscle HypotoniaNeurodevelopmental DisordersConceptsCongenital ataxiaQ-type Ca2Function mutationsSevere neurodevelopmental disorderTsA-201 cellsCerebral edemaFocal seizuresCaV2.1 channelsCentral synapsesChannel dysfunctionNeurological disordersNeuromuscular junctionCACNA1A variantsNeurotransmitter releaseΑ1A subunitAction potential-like stimuliReversal potentialNeurodevelopmental disordersComplex functional effectsFunctional effectsDisordersAtaxiaMissense mutationsCa2Channel gating
2021
Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4
Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Human Molecular Genetics 2021, 31: 1430-1442. PMID: 34788807, PMCID: PMC9271223, DOI: 10.1093/hmg/ddab321.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutism Spectrum DisorderFrameshift MutationHistonesIntellectual DisabilityMutationNeurodevelopmental DisordersNeuronsRatsConceptsC-terminusGenome-wide transcriptome analysisRahman syndromeUnderstanding of mutationsHistone H1.4Neuronal genesTranscriptome analysisAbnormal C-terminusFunctional categoriesFunctional characterizationN-terminusNeuropeptide signalingDe novo heterozygous mutationsSupport of pathogenicitySmall insertionsFunctional consequencesNovo heterozygous mutationRat hippocampal neuronsFrameshift mutationMutationsH1.4Rare genetic disorderSevere intellectual disabilityGenesClinical featuresPTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets
DeSpenza T, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends In Neurosciences 2021, 44: 961-976. PMID: 34625286, PMCID: PMC8692171, DOI: 10.1016/j.tins.2021.08.007.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutism Spectrum DisorderHumansHydrocephalusMammalsMutationNeurodevelopmental DisordersPhosphatidylinositol 3-KinasesPTEN PhosphohydrolaseConceptsDevelopmental pleiotropyPTEN-PI3KMTOR pathwayMolecular pathophysiologyPTEN mutationsMolecular similarityTherapeutic targetCommon underlying mechanismNeurodevelopmental disordersUnderlying mechanismTherapeutic promisePleiotropyBiologyPhenotypicMutationsLimited understandingPathwayCommon neurodevelopmental disorderAutism spectrum disorderSimilarityTargetBiallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genetics In Medicine 2021, 23: 2455-2460. PMID: 34385670, PMCID: PMC8633036, DOI: 10.1038/s41436-021-01291-x.Peer-Reviewed Original ResearchMeSH KeywordsCerebral PalsyEpilepsyHumansMicrocephalyNeurodevelopmental DisordersNuclear ProteinsPedigreeRNA SplicingConceptsSpastic cerebral palsyC-terminal nuclear localization signalNuclear localization signalCerebral palsyPremature termination codonFunction variantsHuman neurodevelopmental disordersLocalization signalSplicing regulatorsGenomics initiativesLast exonRegulator geneTermination codonDisease traitsMutant transcriptsDevelopmental delayMouse neurodevelopmentSevere neurodevelopmental disorderMendelian disordersFunction variant allelesNeurodevelopmental disordersMolecular analysisPathogenic variationProtein 1Variable microcephalyMulti-Omics Analysis on Neurodevelopment in Preterm Neonates
Casavant S, Chen J, Xu W, Lainwala S, Matson A, Chen M, Starkweather A, Maas K, Cong X. Multi-Omics Analysis on Neurodevelopment in Preterm Neonates. Nursing Research 2021, 70: 462-468. PMID: 34380978, PMCID: PMC8563389, DOI: 10.1097/nnr.0000000000000548.Peer-Reviewed Original ResearchConceptsPreterm infantsIntensive care unitNecrotizing enterocolitisFeeding intoleranceNeurodevelopmental impairmentNeonatal intensive care unit periodAdverse outcomesHost genetic variationIntestinal microbiomePreterm infants born <Care unitNeonatal intensive care unitInfants born <Weeks gestational ageGut microbiomeIntensive care unit periodFollow-up visitRegulation of intestinal healthPreterm neonatesGestational agePotential adverse outcomesNeurodevelopmental outcomesPain sensitivityPretermMulti-omics analysisPilot Study of Absolute Telomere Lengths in Preterm Infants
Casavant S, Li H, Reese B, Chen M, Cong X. Pilot Study of Absolute Telomere Lengths in Preterm Infants. Nursing Research 2021, 70: 481-486. PMID: 34173371, PMCID: PMC8563375, DOI: 10.1097/nnr.0000000000000535.Peer-Reviewed Original ResearchMeSH KeywordsFeeding BehaviorFemaleGrowth and DevelopmentHumansInfant, NewbornInfant, PrematureMaleNeurodevelopmental DisordersPainPilot ProjectsTelomereConceptsNeonatal intensive care unitPreterm infantsSample of preterm infantsAbsolute telomere lengthIncreased risk of neurodevelopmental disordersTelomere lengthAssociated with epigenetic alterationsRisk of neurodevelopmental disordersAssociated with painIntensive care unitPreterm infant samplesTime of dischargeBorn pretermInfant demographicsStudy of adultsAntibiotic usePretermPolymerase chain reactionPilot studyQuantitative polymerase chain reactionIncreased riskPainful proceduresShorter telomere lengthCare unitEpigenetic alterationsGrowth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth
Salas A, Carlo W, T. B, Bell E, Das A, Van Meurs K, Poindexter B, Shankaran S, Younge N, Watterberg K, Higgins R, Network E, Jobe A, Caplan M, Laptook R, Oh W, Vohr B, Hensman A, Stephens B, Alksninis B, Andrews D, Angela K, Barnett S, Cashore B, Caskey M, Francis K, Gingras D, Gargus R, Johnson K, Lainwala S, Leach T, Leonard M, Lillie S, Mehta K, Moore J, Noel L, Ventura S, Walden R, Watson V, Walsh M, Fanaroff A, Newman N, Wilson-Costello D, Siner B, Zadell A, DiFiore J, Bhola M, Friedman H, Yalcinkaya G, Schibler K, Donovan E, Yolton K, Narendran V, Bridges K, Alexander B, Grisby C, Mersmann M, Mincey H, Hessling J, Gratton T, Goldberg R, Cotten C, Goldstein R, Ashley P, Auten K, Fisher K, Foy K, Freedman S, Gustafson K, Lohmeyer M, Malcolm W, Wallace D, Stoll B, Buchter S, Piazza A, Carlton D, Adams-Chapman I, Black L, Blackwelder A, Carter S, Dinkins E, Fritz S, Hale E, Hutchinson A, LaRossa M, Smikle G, Archer S, Lemons J, Dusick A, Wilson L, Hamer F, Cook A, Herron D, Lytle C, Minnich H, Berberich M, Blaisdell C, Gail D, Kiley J, Poole W, Gantz M, Newman J, Hastings B, Auman J, Huitema C, Pickett J, Wallace D, Zaterka-Baxter K, Stevenson D, Hintz S, Ball M, Bentley B, Bruno E, Davis A, DeAnda M, DeBattista A, Kohn J, Proud M, Pyle R, St. John N, Weiss H, Frantz I, Fiascone J, McGowan E, Furey A, MacKinnon B, Nylen E, Brussa A, Sibley C, Ambalavanan N, Collins M, Cosby S, Peralta-Carcelen M, Phillips V, Bailey K, Biasini F, Hopkins M, Johnston K, Krzywanski S, Nelson K, Patterson C, Rector R, Rodriguez L, Soong A, Whitley S, York S, Finer N, Rasmussen M, Wozniak P, Vaucher Y, Rich W, Arnell K, Barbieri-Welge R, Ben-Tall A, Bridge R, Demetrio C, Fuller M, Ito E, Lukasik M, Pontillo D, Posin D, Runyan C, Wilkes J, Zlotnik P, Widness J, Klein J, Colaizy T, Johnson K, Acarregui M, Eastman D, Duara S, Bauer C, Everett-Thomas R, Calejo M, Diaz A, Eguaras S, Garcia A, Hamlin-Smith K, Berkowits M, Hiriart-Fajardo S, Mathews E, Pierre H, Riguard A, Stroerger A, Ohls R, Fuller J, Rohr J, Lacy C, Lowe J, Montman R, Laroia N, Phelps D, Myers G, Markowitz G, Reubens L, Hust D, Augostino L, Johnson J, Burnell E, Gelbard H, Jensen R, Kushner E, Merzbach J, Mink J, Torres C, Wang D, Yost K, Sánchez P, Rosenfeld C, Salhab W, Heyne R, Adams S, Allen J, Grau L, Guzman A, Hensley G, Heyne E, Lepps M, Madden L, Martin M, Miller N, Morgan J, Solis A, Torres L, Boatman C, Vasil D, Wilder K, Kennedy K, Tyson J, Alaniz N, Evans P, Harris B, Green C, Jiminez M, Lis A, Martin S, McDavid G, Morris B, Poundstone M, Reddoch S, Siddiki S, Tate P, Whitely L, Wright S, Yoder B, Faix R, Baker S, Bird K, Burnett J, Cole L, Osborne K, Spencer C, Steffens M, Weaver-Lewis K, Zanetti K, O'Shea T, Dillard R, Washburn L, Peters N, Jackson B, Chiu K, Allred D, Goldstein D, Halfond R, Peterson C, Waldrep E, Welch C, Morris M, Hounshell G, Pappas A, Sood B, Bara R, Billian E, Goldston L, Johnson M, Ehrenkranz R, Bhandari V, Jacobs H, Cervone P, Gettner P, Konstantino M, Poulsen J, Taft J, Butler C, Close N, Gilliam W, Greisman S, Romano E, Williams J. Growth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth. The Journal Of Pediatrics 2021, 237: 148-153.e3. PMID: 34157349, PMCID: PMC8478787, DOI: 10.1016/j.jpeds.2021.06.026.Peer-Reviewed Original ResearchConceptsContinuous positive airway pressurePositive airway pressureEarly continuous positive airway pressureWeeks of PMAWeeks postmenstrual agePostmenstrual ageEPT infantsAirway pressureEarly intubationNutritional intakeTreatment groupsDay 28Day 21Day 7Surfactant Positive Airway PressureTotal nutritional intakeMedian gestational ageMean birth weightBayley-III cognitive scoresPulse Oximetry TrialSurfactant administrationBaseline characteristicsPreterm infantsPreterm birthGestational ageClinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities
Krishnan M, Berry-Kravis E, Capal J, Carpenter R, Gringras P, Hipp J, Miller M, Mingorance A, Philpot B, Pletcher M, Rotenberg A, Tjeertes J, Wang P, Willgoss T, de Wit M, Jeste S. Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities. Nature Reviews Drug Discovery 2021, 20: 653-654. PMID: 34002058, DOI: 10.1038/d41573-021-00085-9.Peer-Reviewed Original ResearchRegulation of nonsense-mediated mRNA decay in neural development and disease
Lee PJ, Yang S, Sun Y, Guo JU. Regulation of nonsense-mediated mRNA decay in neural development and disease. Journal Of Molecular Cell Biology 2021, 13: 269-281. PMID: 33783512, PMCID: PMC8339359, DOI: 10.1093/jmcb/mjab022.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsAnimalsCentral Nervous SystemCodon, NonsenseGene Expression Regulation, DevelopmentalHumansMutationNeurodevelopmental DisordersNonsense Mediated mRNA DecayProtein BiosynthesisRNA, MessengerConceptsAberrant mRNAsNonsense-mediated mRNA decayMRNA decay functionCore NMD factorsMRNA surveillance mechanismGene regulation mechanismsQuality control mechanismsPremature termination codonNMD factorsPhysiological mRNAsOrganismal levelMRNA decayDevelopmental regulationGenetic evidenceMolecular basisTermination codonBiological functionsRegulation mechanismNeural developmentPhysiological functionsSurveillance mechanismNMDNeurodegenerative diseasesMRNACritical roleA white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders
Díaz-Caneja C, State M, Hagerman R, Jacquemont S, Marín O, Bagni C, Umbricht D, Simonoff E, de Andrés-Trelles F, Kaale A, Pandina G, Gómez-Mancilla B, Wang P, Cusak J, Siafis S, Leucht S, Parellada M, Loth E, Charman T, Buitelaar J, Murphy D, Arango C. A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders. European Neuropsychopharmacology 2021, 48: 49-88. PMID: 33781629, DOI: 10.1016/j.euroneuro.2021.02.020.Peer-Reviewed Original ResearchFetal cerebrovascular impedance is reduced in left congenital diaphragmatic hernia
Kosiv K, Moon‐Grady A, Hogan W, Keller R, Rapoport R, Rogers E, Feldstein V, Lee H, Peyvandi S. Fetal cerebrovascular impedance is reduced in left congenital diaphragmatic hernia. Ultrasound In Obstetrics And Gynecology 2021, 57: 386-391. PMID: 32068925, PMCID: PMC7431368, DOI: 10.1002/uog.21992.Peer-Reviewed Original ResearchMeSH KeywordsAdaptation, PhysiologicalCardiography, ImpedanceCase-Control StudiesCerebrovascular CirculationEchocardiographyElectric ImpedanceFemaleFetal DevelopmentFetusFunctional LateralityGestational AgeHernias, Diaphragmatic, CongenitalHumansMiddle Cerebral ArteryNeurodevelopmental DisordersPregnancyPulsatile FlowUltrasonography, PrenatalUmbilical ArteriesConceptsLeft ventricular cardiac outputLeft-sided CDHCongenital diaphragmatic herniaMCA-PI Z-scoreMCA-PICerebral blood flowCardiac outputRight-sided CDHPulsatility indexHead circumferenceBiparietal diameterCDH survivorsBlood flowSmall left-sided cardiac structuresMiddle cerebral artery pulsatility indexRight-sided congenital diaphragmatic herniaLeft-sided congenital diaphragmatic herniaLeft-sided cardiac structuresPercentage of COCerebral artery pulsatility indexGestational age-matched controlsZ-scoreMCA PI valuesArtery pulsatility indexSignificant mass effect
2020
A screen of brain organoids to study neurodevelopmental disease
Cherskov A, Sestan N. A screen of brain organoids to study neurodevelopmental disease. Nature 2020, 589: 24-25. PMID: 33361778, DOI: 10.1038/d41586-020-03636-z.Commentaries, Editorials and Letters
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