2024
AXIN1 mutations in nonsyndromic craniosynostosis.
Timberlake A, Hemal K, Gustafson J, Hao L, Valenzuela I, Slavotinek A, Cunningham M, Kahle K, Lifton R, Persing J. AXIN1 mutations in nonsyndromic craniosynostosis. Journal Of Neurosurgery Pediatrics 2024, 34: 246-251. PMID: 38905707, PMCID: PMC11200303, DOI: 10.3171/2024.5.peds24115.Peer-Reviewed Original ResearchSequence dataAXIN1 mutationsCase-parent triosGenome-wide significanceCS casesNonsyndromic CSGenome sequencing projectsWnt signalingExome sequencing dataRNA sequencing dataPhenotypes associated with mutationsSequencing projectsGenetic testingInhibitor of Wnt signalingLive birthsNonsyndromic casesGenetic etiologyGenetic causeCS patientsAXIN1Nonsyndromic craniosynostosisMutationsHealthy controlsBirth defectsExomeD125. A Diffusion Tensor Imaging Comparison of White Matter Development in Nonsyndromic Craniosynostosis to Neurotypical Infants
Moscarelli J, Almeida M, Lacadie C, Hu K, Ihnat J, Parikh N, Persing J, Alperovich M. D125. A Diffusion Tensor Imaging Comparison of White Matter Development in Nonsyndromic Craniosynostosis to Neurotypical Infants. Plastic & Reconstructive Surgery Global Open 2024, 12: 127-127. PMCID: PMC11340512, DOI: 10.1097/01.gox.0001018968.87118.ff.Peer-Reviewed Original ResearchWhite matter developmentNonsyndromic craniosynostosis54. A Diffusion Tensor Imaging Comparison Of White Matter Development In Nonsyndromic Craniosynostosis To Neurotypical Infants
Moscarelli J, Almeida M, Lacadie C, Hu K, Ihnat J, Parikh N, Persing J, Alperovich M. 54. A Diffusion Tensor Imaging Comparison Of White Matter Development In Nonsyndromic Craniosynostosis To Neurotypical Infants. Plastic & Reconstructive Surgery Global Open 2024, 12: 38-38. PMCID: PMC11041127, DOI: 10.1097/01.gox.0001015308.49191.ae.Peer-Reviewed Original ResearchWhite matter developmentNonsyndromic craniosynostosisControversies in the Indications for Surgery
Yang J, Sasson D, Smetona J, Persing J. Controversies in the Indications for Surgery. 2024, 175-187. DOI: 10.1007/978-3-031-69386-1_14.Peer-Reviewed Original Research
2023
Quantifying the Impact of Genetics on Neurocognition in Nonsyndromic Sagittal Craniosynostosis
Junn A, Dinis J, Long A, Timberlake A, Persing J, Alperovich M. Quantifying the Impact of Genetics on Neurocognition in Nonsyndromic Sagittal Craniosynostosis. Plastic & Reconstructive Surgery 2023, 152: 300e-306e. PMID: 36912936, DOI: 10.1097/prs.0000000000010400.Peer-Reviewed Original ResearchConceptsFull-scale intelligence quotientHigh-risk mutationsNonsyndromic craniosynostosisNeurocognitive outcomesDouble-blinded cohort studySignificant differencesCLINICAL QUESTION/LEVELVisuomotor integrationTime of surgeryType of surgeryHigh-risk genotypesPoor neurocognitive outcomesNonsyndromic sagittal craniosynostosisHigh-risk genesPresence of mutationsCohort studySurgery typePatient factorsNeurodevelopmental delayAnalysis of covarianceNeurocognitive testingNeurocognitive effectsPatientsSociodemographic factorsSagittal craniosynostosis
2022
Longitudinal Outpatient and School-Based Service Use among Children with Nonsyndromic Craniosynostosis
Peck CJ, Junn A, Park KE, Khetpal S, Cabrejo R, Singh A, Mayes L, Alperovich M, Persing J. Longitudinal Outpatient and School-Based Service Use among Children with Nonsyndromic Craniosynostosis. Plastic & Reconstructive Surgery 2022, 150: 1309-1317. PMID: 36126215, DOI: 10.1097/prs.0000000000009678.Peer-Reviewed Original ResearchConceptsLongitudinal needsNonsyndromic craniosynostosisParents of childrenService useSchool-based servicesAfrican American race/ethnicityTime of surgerySupportive servicesPercent of parentsPredictive variablesSignificant predictive variablesType of interventionRace/ethnicityNeurodevelopmental sequelaeMale sexMajority of parentsSchool-aged childrenUse of servicesPhysical therapyPresence of siblingsSignificant burdenOutpatientsHigh parental incomeMultifactorial natureSagittal synostosisMolecular genetics of human developmental neurocranial anomalies: towards “precision surgery”
Duy PQ, Timberlake AT, Lifton RP, Kahle KT. Molecular genetics of human developmental neurocranial anomalies: towards “precision surgery”. Cerebral Cortex 2022, 33: 2912-2918. PMID: 35739418, PMCID: PMC10016031, DOI: 10.1093/cercor/bhac249.Peer-Reviewed Original ResearchConceptsFuture clinical trialsSurgical treatmentClinical trialsCongenital hydrocephalusWhole-exome sequencing studiesDisease classification systemDevelopmental anomaliesNeuropsychiatric diseasesNonsyndromic craniosynostosisGenetic counselingPrecision surgeryHuman brainNovel disease genesClassification systemMolecular nomenclatureSequencing studiesHydrocephalusSurgeryPathogenesisTherapyMolecular geneticsPrognosticationDiseaseTrialsBrain
2020
Distinguishing Craniomorphometric Characteristics of Unilateral Lambdoid Craniosynostosis.
Allam O, Park KE, Pourtaheri N, Mozaffari MA, Smetona J, Lu X, Ahmad M, Persing JA, Alperovich M. Distinguishing Craniomorphometric Characteristics of Unilateral Lambdoid Craniosynostosis. Journal Of Craniofacial Surgery 2020, 32: 125-129. PMID: 33156173, DOI: 10.1097/scs.0000000000007098.Peer-Reviewed Original ResearchConceptsUnilateral lambdoid synostosisUL patientsDeformational plagiocephalySingle-suture nonsyndromic craniosynostosisPosterior deformational plagiocephalyUnilateral lambdoid craniosynostosisDP patientsClinical findingsPathological characteristicsRare formPatientsAnterior midlineLambdoid craniosynostosisMajority maleCT imagingLambdoid synostosisNonsyndromic craniosynostosisReliable indicatorSignificant differencesLambdoid sutureSide earCraniosynostosisScansEarPatient scansComparison of Neurocognitive Outcomes in Postoperative Adolescents with Unilateral Coronal Synostosis.
Wu RT, Gabrick KS, Singh A, Landi N, Taylor JA, Bartlett SP, Persing JA, Alperovich M. Comparison of Neurocognitive Outcomes in Postoperative Adolescents with Unilateral Coronal Synostosis. Plastic & Reconstructive Surgery 2020, 146: 614-619. PMID: 32842112, DOI: 10.1097/prs.0000000000007067.Peer-Reviewed Original ResearchConceptsPerformance intelligence quotientVisual-motor integrationVerbal intelligence quotientIntelligence quotientMean full-scale intelligence quotientMotor integrationLeft-sided patientsRight-side patientsNonsyndromic craniosynostosisLong-term functionLarge population studiesCranial vaultHigh motor coordinationMotor achievementsUnilateral coronal synostosisFull-scale intelligence quotientIndependent predictorsFemale patientsStudy cohortNeurodevelopmental assessmentAverage intelligence quotient scoresMean ageControl subjectsNeurocognitive outcomesIntelligence quotient scores
2019
Understanding the Learning Disabilities Linked to Sagittal Craniosynostosis
Cabrejo R, Lacadie C, Brooks E, Beckett J, Sun A, Yang J, Chuang C, Eilbott J, Duncan C, Steinbacher D, Alperovich M, Ventola P, Pelphrey K, Constable T, Persing J. Understanding the Learning Disabilities Linked to Sagittal Craniosynostosis. Journal Of Craniofacial Surgery 2019, 30: 497-502. PMID: 30676447, DOI: 10.1097/scs.0000000000005194.Peer-Reviewed Original ResearchConceptsAttention deficit hyperactivity disorderFunctional magnetic resonance imagingSagittal nonsyndromic craniosynostosisSagittal craniosynostosisDifferent neural connectionsPrimary visual cortexVisual association cortexMagnetic resonance imagingStatistical parametric mappingDeficit hyperactivity disorderBrodmann area 11Association cortexVisual cortexResonance imagingNeurocognitive deficitsNeural connectionsPatientsFMRI scansHyperactivity disorderNonsyndromic craniosynostosisParametric mappingControl adolescentsAuditory processingArea 11Craniosynostosis
2016
Parental Perceptions of Neurodevelopment in Toddlers Following Craniosynostosis Repair
Alperovich M, Golinko MS, Lee ZH, Runyan CM, Staffenberg DA. Parental Perceptions of Neurodevelopment in Toddlers Following Craniosynostosis Repair. Journal Of Craniofacial Surgery 2016, 27: 835-838. PMID: 27192656, DOI: 10.1097/scs.0000000000002646.Peer-Reviewed Original ResearchConceptsParental perceptionsNonsyndromic craniosynostosisMean scoreParents of malesCranial vault remodelingUndergo surgeryParents of childrenMean ageChild neurodevelopmentCraniosynostosis repairSurgeryVault remodelingAge groupsCraniosynostosis typeDevelopmental delayNeurodevelopmentChildren's motorLittle dataAnonymous surveySignificant differencesCranial vaultChildrenAgeMaximum scoreSchool age
2015
Normalization of brain morphology after surgery in sagittal craniosynostosis.
Brooks ED, Yang J, Beckett JS, Lacadie C, Scheinost D, Persing S, Zellner EG, Oosting D, Keifer C, Friedman HE, Wyk BV, Jou RJ, Sun H, Gary C, Duncan CC, Constable RT, Pelphrey KA, Persing JA. Normalization of brain morphology after surgery in sagittal craniosynostosis. Journal Of Neurosurgery Pediatrics 2015, 17: 460-8. PMID: 26684766, PMCID: PMC7182140, DOI: 10.3171/2015.7.peds15221.Peer-Reviewed Original ResearchConceptsBrain growthNonsyndromic craniosynostosisBrain morphological differencesWhole-brain techniqueYears of ageSignificant learning disabilitiesIQ-matched control subjectsUntreated infantsMean ageAdolescent patientsControl subjectsWhole-vault cranioplastyBrain dysmorphologySurgical reconstructionBrain areasTemporooccipital regionsSmall cohortSurgeryCognitive functionBrain morphologyBrain normalizationSagittal craniosynostosisLiberal thresholdSagittal nonsyndromic craniosynostosisFrontoparietal regions
1997
Secondary Craniofacial Management Following Initial Correction of Nonsyndromic Craniosynostosis
Shin J, Sun P, Persing J. Secondary Craniofacial Management Following Initial Correction of Nonsyndromic Craniosynostosis. Clinics In Plastic Surgery 1997, 24: 415-428. PMID: 9246510, DOI: 10.1016/s0094-1298(20)31036-1.Peer-Reviewed Original ResearchConceptsSurgical managementIntensive careInitial correctionNonsyndromic craniosynostosisCraniosynostosisCareSecondary problems
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