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 Research
2016
A 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 eventsPharmacotherapy 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
2015
The neurobehavioral and molecular phenotype of Angelman Syndrome
Wink L, Fitzpatrick S, Shaffer R, Melnyk S, Begtrup A, Fox E, Schaefer T, Mathieu-Frasier L, Ray B, Lahiri D, Horn P, Erickson C. The neurobehavioral and molecular phenotype of Angelman Syndrome. American Journal Of Medical Genetics Part A 2015, 167: 2623-2628. PMID: 26219744, DOI: 10.1002/ajmg.a.37254.Peer-Reviewed Original ResearchConceptsPlasma levelsAngelman syndromeBrain-derived neurotrophic factor (BDNF) plasma levelsDevelopmental delayNeurotrophic factor plasma levelsBDNF plasma levelsDetailed medical historyAge 3 yearsRare neurodevelopmental disorderLarger future studiesAbnormal neuronal developmentBDNF levelsSignificant developmental delayNeuropsychiatric presentationUnique behavioral profileGait ataxiaMedical historySleep disruptionMajority of individualsPlasma samplingAutism Diagnostic Observation ScheduleNeuronal developmentNeurodevelopmental disordersNeurobehavioral phenotypesHyperactivity/impulsivity