Sarah E. Fitzpatrick
she/her/hers
About
Research
Publications
2023
High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways
Mendes H, Neelakantan U, Liu Y, Fitzpatrick S, Chen T, Wu W, Pruitt A, Jin D, Jamadagni P, Carlson M, Lacadie C, Enriquez K, Li N, Zhao D, Ijaz S, Sakai C, Szi C, Rooney B, Ghosh M, Nwabudike I, Gorodezky A, Chowdhury S, Zaheer M, McLaughlin S, Fernandez J, Wu J, Eilbott J, Vander Wyk B, Rihel J, Papademetris X, Wang Z, Hoffman E. High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways. Cell Reports 2023, 42: 112243. PMID: 36933215, PMCID: PMC10277173, DOI: 10.1016/j.celrep.2023.112243.Peer-Reviewed Original ResearchConceptsGene lossFunctional analysisHigh-throughput functional analysisZebrafish mutantsGene discoverySelect mutantsASD genesAutism genesKey pathwaysASD biologyBrain size differencesMutantsGenesSize differencesPathwayGlobal increaseRelevant mechanismsBiologyCentral challengeNeuroimmune dysfunctionRegionFunctionDiscoveryAutism spectrum disorder
2021
Medical Student Patient Outreach to Ensure Continuity of Care During the COVID-19 Pandemic
Belzer A, Yeagle EM, Kohlenberg LK, Solberg M, Gudbranson E, Budge M, Batchelor HM, Fitzpatrick SE, Zhao A, Armengol VD, Hassan SF, Shum M, Bia M, Bia F, Desai NR, Kahn PA. Medical Student Patient Outreach to Ensure Continuity of Care During the COVID-19 Pandemic. Telemedicine Reports 2021, 2: 56-63. PMID: 35720754, PMCID: PMC9049823, DOI: 10.1089/tmr.2020.0030.Peer-Reviewed Educational MaterialsPercent of patientsContinuity of careYale New Haven Health SystemInternal medicine patientsHealth care workersHealth care needsYale New Haven HealthCOVID-19COVID-19 pandemicPublic health emergencyMedicine patientsOutpatient appointmentsCare teamPatient concernsPatient outreachCare needsPatientsCare workersPatient feedbackOutpatient telemedicinePatient commentsPatient communicationProvider responsesHealth systemHealth concern
2019
Pediatric Quality of Life Inventory (PedsQL) in Fragile X Syndrome
Fitzpatrick S, Schmitt L, Adams R, Pedapati E, Wink L, Shaffer R, Sage J, Weber J, Dominick K, Erickson C. Pediatric Quality of Life Inventory (PedsQL) in Fragile X Syndrome. Journal Of Autism And Developmental Disorders 2019, 50: 1056-1063. PMID: 31728808, PMCID: PMC7232688, DOI: 10.1007/s10803-019-04292-7.Peer-Reviewed Original Research3.38 PEDIATRIC QUALITY-OF-LIFE INVENTORY IN FRAGILE X SYNDROME
Fitzpatrick S, Schmitt L, Adams R, Pedapati E, Shaffer R, Sage J, Weber J, Dominick K, Erickson C. 3.38 PEDIATRIC QUALITY-OF-LIFE INVENTORY IN FRAGILE X SYNDROME. Journal Of The American Academy Of Child & Adolescent Psychiatry 2019, 58: s207. DOI: 10.1016/j.jaac.2019.08.201.Peer-Reviewed Original Research
2017
Challenges in Conducting Clinical Trials for Pharmacotherapies in Fragile X Syndrome: Lessons Learned
Harkins C, Dominick K, Wink L, Pedapati E, Shaffer R, Fitzpatrick S, Davenport M, Sweeney J, Erickson C. Challenges in Conducting Clinical Trials for Pharmacotherapies in Fragile X Syndrome: Lessons Learned. Pharmaceutical Medicine 2017, 31: 235-244. DOI: 10.1007/s40290-017-0199-1.Peer-Reviewed Original ResearchAutism spectrum disorderFragile X syndromeBehavioral outcome measuresClinician-reported instrumentsUse of parentsBehavioral measuresEye gazeSpectrum disorderNeuroscientific advancesReport instrumentX syndromeTreatment developmentCommon single gene causeBrain functionRater biasBehavioral heterogeneityIntellectual disabilityPharmacotherapy trialsOutcome measuresPotential explanationTreatment-associated changesQuantitative measuresMeasuresDisordersFuture successFragile X targeted pharmacotherapy: lessons learned and future directions
Erickson C, Davenport M, Schaefer T, Wink L, Pedapati E, Sweeney J, Fitzpatrick S, Brown W, Budimirovic D, Hagerman R, Hessl D, Kaufmann W, Berry-Kravis E. Fragile X targeted pharmacotherapy: lessons learned and future directions. Journal Of Neurodevelopmental Disorders 2017, 9: 7. PMID: 28616096, PMCID: PMC5467059, DOI: 10.1186/s11689-017-9186-9.Peer-Reviewed Original ResearchClinical trial rationaleCurrent prescribing practicesDrug targetsAppropriate outcome measuresClinical trial designTreatment development effortsFXS animal modelsNumerous potential drug targetsTrial rationaleGABAergic neurotransmissionPrescribing practicesSyndrome pathophysiologyClinical trialsOutcome measuresTrial designAnimal modelsDrug approachSingle gene disordersPotential drug targetsTreatment developmentPharmacotherapyDrugsPathophysiologyTrial execution
2016
Premutation-Associated Disorders in Childhood and Adulthood
Hagerman R, Wheeler A, Fitzpatrick S, Hunter J. Premutation-Associated Disorders in Childhood and Adulthood. 2016, 241-262. DOI: 10.1007/978-3-319-33898-9_12.ChaptersCentral nervous system findingsHealth care providersClinical symptomsSignificant clinical involvementSystem findingsLifestyle changesCare providersPsychiatric problemsPsychiatric aspectsClinical involvementMost childrenPremutation involvementPremutation-associated disordersMost adultsPremutation carriersDisordersInvolvementRNA toxicityPremutationSymptomsA Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome
Greiss Hess L, Fitzpatrick S, Nguyen D, Chen Y, Gaul K, Schneider A, Lemons Chitwood K, Eldeeb M, Polussa J, Hessl D, Rivera S, Hagerman R. A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome. Journal Of Developmental And Behavioral Pediatrics 2016, 37: 619-628. PMID: 27560971, PMCID: PMC5039060, DOI: 10.1097/dbp.0000000000000334.Peer-Reviewed Original ResearchConceptsLow-dose sertralineEL developmentFragile X syndromeYoung childrenSensory Processing Measure–PreschoolVisual perceptual abilitiesAutism spectrum disorderSocial participationLong-term side effectsPerceptual abilitiesMullen ScalesLanguage developmentSpectrum disorderX syndromeAge equivalentsSide effectsSertraline armClinical Global Impression Scale-ImprovementMSELEarly childhoodSelective serotonin reuptake inhibitorsGlobal clinical improvementChildrenPlacebo-controlled trialSerious adverse eventsAggression in autism spectrum disorder: presentation and treatment options
Fitzpatrick S, Srivorakiat L, Wink L, Pedapati E, Erickson C. Aggression in autism spectrum disorder: presentation and treatment options. Neuropsychiatric Disease And Treatment 2016, Volume 12: 1525-1538. PMID: 27382295, PMCID: PMC4922773, DOI: 10.2147/ndt.s84585.Peer-Reviewed Original ResearchAutism spectrum disorderSpectrum disorderFunctional communication trainingASD diagnosisFunctional behavioral assessmentSocial communicationNegative outcomesSocial interactionSocial supportDevelopmental disabilitiesPersistent difficultiesBehavioral assessmentCommunication trainingAggressionNeurodevelopmental disordersAggressive behaviorRepetitive patternsDisordersReinforcement strategiesIndividualsStress levelsQuality of lifeAggression ratesCaregiversSecond-generation antipsychoticsPharmacotherapy for Fragile X Syndrome: Progress to Date
Davenport M, Schaefer T, Friedmann K, Fitzpatrick S, Erickson C. Pharmacotherapy for Fragile X Syndrome: Progress to Date. Drugs 2016, 76: 431-445. PMID: 26858239, DOI: 10.1007/s40265-016-0542-y.Peer-Reviewed Original ResearchConceptsFragile X Mental Retardation ProteinGamma-aminobutyric acid (GABA) neurotransmissionMore objective outcome measuresPlacebo-controlled trialFragile X syndromeClinical study designObjective outcome measuresSymptomatic treatmentLoss of FMRPFuture trialsExcessive glutamateOutcome measuresSelective antagonistClinical investigationSingle treatmentStudy designSymptomatic perspectiveGenetic causeX syndromeMental retardation proteinTrialsDrug developmentTreatmentSyndromeDrugs