Catherine Sullivan
Research Assistant PediatricsCards
About
Research
Overview
We are interested in studying the genetics of autism, regression and other childhood neurological disorders. Our primary focus is on Childhood Disintegrative Disorder (CDD), a rare form or autism in which a child is typically developing until at least age 3 and then experiences a major regression in which they lose skills such as social, language, play and toiletry. After regression, these children are diagnosis on the spectrum, and most with intellectual disorder. As regression is found in roughly 30% of children on the spectrum, we are interested in studying the potential genetic causes of regression as they may shed light on the biological pathways involved in CDD. You can find out more about the Yale CDD study here: https://campuspress.yale.edu/yalecddstudy
Publications
2024
A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder
Arutiunian V, Santhosh M, Neuhaus E, Sullivan C, Bernier R, Bookheimer S, Dapretto M, Geschwind D, Jack A, McPartland J, Van Horn J, Pelphrey K, Gupta A, Webb S, Network T. A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder. Autism Research 2024 PMID: 38984666, PMCID: PMC11717989, DOI: 10.1002/aur.3193.Peer-Reviewed Original ResearchAutism spectrum disorderLanguage skillsCommunication abilitySpectrum disorderStructural language abilityStructural language skillsLow language skillsCommunication skillsMeasures of languageContactin-associated protein-like 2 geneYouth aged 7Verbal communication skillsCELF-4G allele homozygotesLanguage abilityLanguage variablesNon-verbal individualsVerbal youthLanguageNeurexin familyVineland-IICandidate genesGenomic DNAGenetic mechanismsGenetic variants
2023
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transport
2022
Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sex
Jacokes Z, Jack A, Sullivan C, Aylward E, Bookheimer S, Dapretto M, Bernier R, Geschwind D, Sukhodolsky D, McPartland J, Webb S, Torgerson C, Eilbott J, Kenworthy L, Pelphrey K, Van Horn J, Consortium T, Ankenman K, Corrigan S, Depedro-Mercier D, Gaab N, Guilford D, Gupta A, Jeste S, Keifer C, Kresse A, Libsack E, Lowe J, MacDonnell E, McDonald N, Naples A, Nelson C, Neuhaus E, Ventola P, Welker O, Wolf J. Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sex. Frontiers In Neuroscience 2022, 16: 1040085. PMID: 36466170, PMCID: PMC9709432, DOI: 10.3389/fnins.2022.1040085.Peer-Reviewed Original Research
2021
A neurogenetic analysis of female autism
Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Gaab N, Van Horn JD, Eilbott J, Jacokes Z, Torgerson CM, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Gupta AR, Bernier R, McPartland J, Ventola P, Kresse A, Neuhaus E, Corrigan S, Wolf J, McDonald N, Ankenman K, Webb S, Jeste S, Nelson C, Naples A, Libsack E, Pelphrey K, Aylward E, Bookheimer S, Gaab N, Dapretto M, Van Horn J, Jack A, Guilford D, Torgerson C, Welker O, Geschwind D, Gupta A, Sullivan C, Lowe J, Jacokes Z, MacDonnell E, Tsapelas H, Depedro-Mercier D, Keifer C, Ventola P. A neurogenetic analysis of female autism. Brain 2021, 144: 1911-1926. PMID: 33860292, PMCID: PMC8320285, DOI: 10.1093/brain/awab064.Peer-Reviewed Original ResearchLanguage and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder
Neuhaus E, Kang VY, Kresse A, Corrigan S, Aylward E, Bernier R, Bookheimer S, Dapretto M, Jack A, Jeste S, McPartland JC, Van Horn JD, Pelphrey K, Webb SJ. Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder. Journal Of Autism And Developmental Disorders 2021, 52: 454-462. PMID: 33682042, PMCID: PMC9407024, DOI: 10.1007/s10803-020-04773-0.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSpectrum disorderChild/family factorsAggressive behaviorSocial-emotional difficultiesCommunication skillsPattern of resultsTypical developmentBroader contextual factorsFamily factorsDisruptive behaviorSevere aggressionAggressionFemale youthFamily characteristicsIntervention methodsContextual factorsImportant correlatesLow family incomeYouthSkillsFamily incomeDisordersDifficultiesBehavior
2020
Do Biological Sex and Early Developmental Milestones Predict the Age of First Concerns and Eventual Diagnosis in Autism Spectrum Disorder?
Harrop C, Libsack E, Bernier R, Dapretto M, Jack A, McPartland JC, Van Horn JD, Webb SJ, Pelphrey K, Consortium T. Do Biological Sex and Early Developmental Milestones Predict the Age of First Concerns and Eventual Diagnosis in Autism Spectrum Disorder? Autism Research 2020, 14: 156-168. PMID: 33274604, PMCID: PMC8023413, DOI: 10.1002/aur.2446.Peer-Reviewed Original ResearchConceptsDevelopmental milestonesBiological sexAutism spectrum disorder diagnosisAutism spectrum disorderEarly developmental milestonesSex differencesStrongest predictorTypical developmentASD diagnosisFirst wordSpectrum disorderLower IQFirst concernsAge parentsDisorder diagnosisIQASDSignificant predictorsParentsInitial concernsChildrenPredictorsLater ageTiming of diagnosisInter-individual variationPsychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort.
Fombonne E, Green Snyder L, Daniels A, Feliciano P, Chung W, SPARK Consortium.. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. J Autism Dev Disord 2020, 50:3679-3698.Peer-Reviewed Original ResearchNeural responsivity to social rewards in autistic female youth
Lawrence KE, Hernandez LM, Eilbott J, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Bookheimer SY, Dapretto M. Neural responsivity to social rewards in autistic female youth. Translational Psychiatry 2020, 10: 178. PMID: 32488083, PMCID: PMC7266816, DOI: 10.1038/s41398-020-0824-8.Peer-Reviewed Original ResearchConceptsImplicit learning taskSocial rewardsAutistic girlsAutistic boysLearning taskSocial reward processingSocial reward systemFemale youthPrevious neuroimaging studiesFunctional magnetic resonanceLateral frontal cortexSocial stimuliNeural responsivityReward processingSocial motivationRewarding stimuliAnterior insulaGreater activityNeural activationNeuroimaging studiesPotential sex differencesRewarding natureSalience detectionAutistic femalesBehavioral evidenceIdentification of amygdala-expressed genes associated with autism spectrum disorder
Herrero MJ, Velmeshev D, Hernandez-Pineda D, Sethi S, Sorrells S, Banerjee P, Sullivan C, Gupta AR, Kriegstein AR, Corbin JG. Identification of amygdala-expressed genes associated with autism spectrum disorder. Molecular Autism 2020, 11: 39. PMID: 32460837, PMCID: PMC7251751, DOI: 10.1186/s13229-020-00346-1.Peer-Reviewed Original ResearchConceptsASD susceptibility genesSusceptibility genesSingle-nucleus RNA-seq dataCohort of genesIdentification of hundredsRNA-seq dataCell-type specificityAvailable gene expression databasesGene expression analysisGene expression databaseSpecific cell typesEarly developmental stagesHuman tissuesSeq analysisGene setsBeliefs in vaccine as causes of autism among SPARK cohort caregivers.
Fombonne E, Goin-Kochel RP, O'Roak BJ, SPARK Consortium.. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine 2020, 38:1794-1803.Peer-Reviewed Original Research
News & Links
Media
- The difference in median expression levels (non-neocortical minus neocortical brain regions) is shown for genes affected by non-synonymous or synonymous variants in CDD probands, their unaffected siblings, SSC probands with regression, and SSC probands without regression. The number in parentheses indicates the number of subjects or variants, and the dark vertical line in each panel indicates birth. For potential CDD candidate genes, the difference reaches a maximum positive value at period six (mid-fetal stages); significance was confirmed by permutation testing with 100,000 iterations of 40 randomly selected genes (P = 0.0022). CDD childhood disintegrative disorder, SSC Simons Simplex Collection