2023
The Selective Social Attention task in children with autism spectrum disorder: Results from the Autism Biomarkers Consortium for Clinical Trials (ABC‐CT) feasibility study
Shic F, Barney E, Naples A, Dommer K, Chang S, Li B, McAllister T, Atyabi A, Wang Q, Bernier R, Dawson G, Dziura J, Faja S, Jeste S, Murias M, Johnson S, Sabatos‐DeVito M, Helleman G, Senturk D, Sugar C, Webb S, McPartland J, Chawarska K, Trials T. The Selective Social Attention task in children with autism spectrum disorder: Results from the Autism Biomarkers Consortium for Clinical Trials (ABC‐CT) feasibility study. Autism Research 2023, 16: 2150-2159. PMID: 37749934, PMCID: PMC11003770, DOI: 10.1002/aur.3026.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSocial attention taskSchool-aged childrenAttention taskASD groupSpectrum disorderEye-tracking taskTotal T-scoreAttentional patternsAutism spectrumTD groupPresentation timeTrial feasibility studyGroup differencesPercent of timeOlder childrenTaskComparison groupToddlersT-scoreChildrenChildren 4Outcome variablesFaceCondition effectsEvaluation of clinical assessments of social abilities for use in autism clinical trials by the autism biomarkers consortium for clinical trials
Faja S, Sabatos‐DeVito M, Sridhar A, Kuhn J, Nikolaeva J, Sugar C, Webb S, Bernier R, Sikich L, Hellemann G, Senturk D, Naples A, Shic F, Levin A, Seow H, Dziura J, Jeste S, Chawarska K, Nelson C, Dawson G, McPartland J, Trials A. Evaluation of clinical assessments of social abilities for use in autism clinical trials by the autism biomarkers consortium for clinical trials. Autism Research 2023, 16: 981-996. PMID: 36929131, PMCID: PMC10192100, DOI: 10.1002/aur.2905.Peer-Reviewed Original Research
2022
Concomitant medication use in children with autism spectrum disorder: Data from the Autism Biomarkers Consortium for Clinical Trials
Shurtz L, Schwartz C, DiStefano C, McPartland JC, Levin AR, Dawson G, Kleinhans NM, Faja S, Webb SJ, Shic F, Naples AJ, Seow H, Bernier RA, Chawarska K, Sugar CA, Dziura J, Senturk D, Santhosh M, Jeste SS. Concomitant medication use in children with autism spectrum disorder: Data from the Autism Biomarkers Consortium for Clinical Trials. Autism 2022, 27: 952-966. PMID: 36086805, PMCID: PMC9995606, DOI: 10.1177/13623613221121425.Peer-Reviewed Original ResearchConceptsConcomitant psychotropic medicationsPsychotropic medicationsClinical trialsMedication useSchool-aged childrenClinical representativenessSelective serotonin reuptake inhibitorsConcomitant medication useVariety of medicationsAutism spectrum disorderSerotonin reuptake inhibitorsPsychotropic medication useNew treatment optionsGreater overall impairmentCentral nervous systemSpectrum disorderMedication classesReuptake inhibitorsAlpha agonistsTreatment optionsClinical endpointsInclusion criteriaStudy populationMedicationsNervous systemAttention to audiovisual speech does not facilitate language acquisition in infants with familial history of autism
Chawarska K, Lewkowicz D, Feiner H, Macari S, Vernetti A. Attention to audiovisual speech does not facilitate language acquisition in infants with familial history of autism. Journal Of Child Psychology And Psychiatry 2022, 63: 1466-1476. PMID: 35244219, DOI: 10.1111/jcpp.13595.Peer-Reviewed Original ResearchConceptsExpressive language scoresLanguage outcomesAudiovisual cuesSpeaker's faceLanguage scoresLanguage acquisitionLanguage delayBetter language outcomesSiblings of childrenFamilial riskLow familial riskPoor language outcomesLow-risk infantsAudiovisual speechIntact attentionSpeech cuesHigh familial riskPromising endophenotypeASD diagnosisSpeech processingCuesHigh-risk infantsAutismASDFace
2021
What are we optimizing for in autism screening? Examination of algorithmic changes in the M‐CHAT
Schjølberg S, Shic F, Volkmar FR, Nordahl‐Hansen A, Stenberg N, Torske T, Larsen K, Riley K, Sukhodolsky DG, Leckman JF, Chawarska K, Øien RA. What are we optimizing for in autism screening? Examination of algorithmic changes in the M‐CHAT. Autism Research 2021, 15: 296-304. PMID: 34837355, PMCID: PMC8821132, DOI: 10.1002/aur.2643.Peer-Reviewed Original ResearchAtypical Intrinsic Hemispheric Interaction Associated with Autism Spectrum Disorder Is Present within the First Year of Life
Rolison M, Lacadie C, Chawarska K, Spann M, Scheinost D. Atypical Intrinsic Hemispheric Interaction Associated with Autism Spectrum Disorder Is Present within the First Year of Life. Cerebral Cortex 2021, 32: 1212-1222. PMID: 34424949, PMCID: PMC8924430, DOI: 10.1093/cercor/bhab284.Peer-Reviewed Original ResearchPuppets facilitate attention to social cues in children with ASD
Macari S, Chen X, Brunissen L, Yhang E, Brennan‐Wydra E, Vernetti A, Volkmar F, Chang J, Chawarska K. Puppets facilitate attention to social cues in children with ASD. Autism Research 2021, 14: 1975-1985. PMID: 34350712, PMCID: PMC8434944, DOI: 10.1002/aur.2552.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderVisual attentionAutism severityTD controlsSpeaker's faceYoung childrenSocial-communicative cuesSpeakers’ preferencesHigher autism severityAttention of childrenFunction of groupASD groupSocial cuesSpectrum disorderVisual preferenceHuman speakersSocial partnersSocial interactionSpeaker identityPuppetCuesChildrenEarly characteristicsReciprocal interactionsFace
2020
Low-motion fMRI data can be obtained in pediatric participants undergoing a 60-minute scan protocol
Horien C, Fontenelle S, Joseph K, Powell N, Nutor C, Fortes D, Butler M, Powell K, Macris D, Lee K, Greene AS, McPartland JC, Volkmar FR, Scheinost D, Chawarska K, Constable RT. Low-motion fMRI data can be obtained in pediatric participants undergoing a 60-minute scan protocol. Scientific Reports 2020, 10: 21855. PMID: 33318557, PMCID: PMC7736342, DOI: 10.1038/s41598-020-78885-z.Peer-Reviewed Original ResearchConceptsPediatric participantsMRI protocolMagnetic resonance imaging (MRI) scansFunctional magnetic resonance imaging (fMRI) scansShorter MRI protocolsScan protocolResonance imaging scansImaging scansMRI sessionsFMRI connectivity analysisFMRI dataFMRI findingsSignificant confoundScansReplication groupConnectivity analysisAutism spectrum disorderMock scanSpectrum disorderParticipantsHead motionProtocolSex Differences in Gender‐Diverse Expressions and Identities among Youth with Autism Spectrum Disorder
Brunissen L, Rapoport E, Chawarska K, Adesman A. Sex Differences in Gender‐Diverse Expressions and Identities among Youth with Autism Spectrum Disorder. Autism Research 2020, 14: 143-155. PMID: 33283980, DOI: 10.1002/aur.2441.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderGender-related concernsGender Identity QuestionnaireParents of girlsSpectrum disorderASD ages 6Sex differencesParents of youthParents of boysIndividualized supportGender identity/expressionSex-typed behaviorSame-gender behaviorElevated distressIdentity QuestionnaireParents' responsesAutismChild's appearanceChild's ageAge 6Gender expressionReal distressBirth sexYouthGender dysphoriaFunctional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa)
Stenberg N, Schjølberg S, Shic F, Volkmar F, Øyen AS, Bresnahan M, Svendsen BK, von Tetzchner S, Thronæs NT, Macari S, Cicchetti DV, Chawarska K, Suren P, Øien RA. Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa). Journal Of Autism And Developmental Disorders 2020, 51: 922-932. PMID: 32424708, PMCID: PMC7954713, DOI: 10.1007/s10803-020-04539-8.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderChild Cohort StudyCohort studyAutism symptomsLanguage disordersM-CHATSpectrum disorderLower IQDevelopmental concernsNorwegian MotherDevelopmental periodIntellectual disabilityEarly interventionBirth cohort studyMonths of ageChildrenItem criteriaFunctional outcomeBetter outcomesGreater severitySwift accessEarly identificationIQDisordersFathers
2018
Among Children Born Extremely Preterm a Higher Level of Circulating Neurotrophins Is Associated with Lower Risk of Cognitive Impairment at School Age
Kuban K, Heeren T, O'Shea T, Joseph R, Fichorova R, Douglass L, Jara H, Frazier J, Hirtz D, Taylor H, Rollins J, Paneth N, Investigators E, Ware J, Coster T, Hanson B, Wilson R, McGhee K, Lee P, Asgarian A, Sadhwani A, Perrin E, Neger E, Mattern K, Walkowiak J, Barron S, Shah B, Singh R, Smith A, Klein D, McQuiston S, Venuti L, Powers B, Foley A, Dessureau B, Wood M, Damon-Minow J, Ehrenkranz R, Benjamin J, Romano E, Tsatsanis K, Chawarska K, Kim S, Dieterich S, Bearrs K, Peters N, Brown P, Ansusinha E, Waldrep E, Friedman J, Hounshell G, Allred D, Engelke S, Darden-Saad N, Stainback G, Warner D, Wereszczak J, Bernhardt J, McKeeman J, Meyer E, Pastyrnak S, Rathbun J, Nota S, Crumb T, Lenski M, Weiland D, Lloyd M, Hunter S, Msall M, Ramoskaite R, Wiggins S, Washington K, Martin R, Prendergast B, Scott M, Klarr J, Kring B, DeRidder J, Vogt K, Yamamoto H, Ryan S, Junaid D, Dawood H, Beatty N, Luu N, Tang V, Sassi R, Pasicznyk J. Among Children Born Extremely Preterm a Higher Level of Circulating Neurotrophins Is Associated with Lower Risk of Cognitive Impairment at School Age. The Journal Of Pediatrics 2018, 201: 40-48.e4. PMID: 30029870, PMCID: PMC6684153, DOI: 10.1016/j.jpeds.2018.05.021.Peer-Reviewed Original ResearchConceptsWeeks of lifeNeurotrophic proteinsSevere cognitive impairmentBlood levelsCognitive impairmentInflammatory proteinLower riskBrain-derived neurotrophic factorNeonatal blood specimensProtein blood levelsHigh blood levelsAdverse cognitive outcomesElevated blood levelsLow Gestational Age Newborn StudyNormal T cellsYears of ageHigh exposureFunction testsNeurotrophic factorCognitive function levelT cellsReduced riskMultinomial logistic regressionElevated proteinBlood specimensHand Preference and Cognitive, Motor, and Behavioral Functioning in 10-Year-Old Extremely Preterm Children
Burnett A, Anderson P, Joseph R, Allred E, O'Shea T, Kuban K, Leviton A, Investigators E, Shah B, Singh R, Smith A, Klein D, McQuiston S, Rollins J, Douglass L, Ware J, Coster T, Henson B, Wilson R, McGhee K, Lee P, Asgarian A, Sadhwani A, Perrin E, Neger E, Mattern K, Walkowiak J, Barron S, Frazier J, Venuti L, Powers B, Foley A, Dessureau B, Wood M, Damon-Minow J, Ehrenkranz R, Benjamin J, Romano E, Tsatsanis K, Chawarska K, Kim S, Dieterich S, Bearrs K, Peters N, Brown P, Ansusinha E, Waldrep E, Friedman J, Hounshell G, Allred D, Engelke S, Darden-Saad N, Stainback G, Warner D, Wereszczak J, Bernhardt J, McKeeman J, Meyer E, Pastyrnak S, Burdo-Hartman W, Rathbun J, Nota S, Crumb T, Lenski M, Weiland D, Lloyd M, Hunter S, Msall M, Ramoskaite R, Wiggins S, Washington K, Martin R, Prendergast B, Scott M, Klarr J, Kring B, DeRidder J, Vogt K. Hand Preference and Cognitive, Motor, and Behavioral Functioning in 10-Year-Old Extremely Preterm Children. The Journal Of Pediatrics 2018, 195: 279-282.e3. PMID: 29336793, PMCID: PMC5869125, DOI: 10.1016/j.jpeds.2017.11.056.Peer-Reviewed Original Research
2017
Antecedents of Screening Positive for Attention Deficit Hyperactivity Disorder in Ten-Year-Old Children Born Extremely Preterm
Leviton A, Hooper S, Hunter S, Scott M, Allred E, Joseph R, O'Shea T, Kuban K, Investigators E, Ware J, Coster T, Henson B, Wilson R, McGhee K, Lee P, Asgarian A, Sadhwani A, Perrin E, Neger E, Mattern K, Walkowiak J, Barron S, Frazier J, Venuti L, Powers B, Foley A, Dessureau B, Wood M, Damon-Minow J, Ehrenkranz R, Benjamin J, Romano E, Tsatsanis K, Chawarska K, Kim S, Dieterich S, Bearrs K, O'Shea T, Peters N, Brown P, Ansusinha E, Waldrep E, Friedman J, Hounshell G, Allred D, Engelke S, Darden-Saad N, Stainback G, Warner D, Wereszczak J, Bernhardt J, McKeeman J, Meyer E, Pastyrnak S, Burdo-Hartman W, Rathbun J, Nota S, Crumb T, Lenski M, Weiland D, Lloyd M, Hunter S, Msall M, Ramoskaite R, Wiggins S, Washington K, Martin R, Prendergast B, Scott M, Klarr J, Kring B, DeRidder J, Vogt K. Antecedents of Screening Positive for Attention Deficit Hyperactivity Disorder in Ten-Year-Old Children Born Extremely Preterm. Pediatric Neurology 2017, 81: 25-30. PMID: 29523493, PMCID: PMC5903941, DOI: 10.1016/j.pediatrneurol.2017.12.010.Peer-Reviewed Original ResearchConceptsAttention deficit hyperactivity disorderDeficit hyperactivity disorderRisk profileHyperactivity disorderRisk factorsLow socioeconomic stateLower gestational ageYoung maternal ageLow birth weightRetinopathy of prematuritySignificant risk factorsWeeks of gestationParent reportChild Symptom Inventory-4Attention deficit hyperactivity disorder (ADHD) diagnosisPostnatal day sevenAntibiotic receiptSeizure prophylaxisMaternal obesityMaternal smokingGestational ageMechanical ventilationBirth weightMaternal ageBrain scansCo-occurrence and Severity of Neurodevelopmental Burden (Cognitive Impairment, Cerebral Palsy, Autism Spectrum Disorder, and Epilepsy) at Age Ten Years in Children Born Extremely Preterm
Hirschberger R, Kuban K, O'Shea T, Joseph R, Heeren T, Douglass L, Stafstrom C, Jara H, Frazier J, Hirtz D, Rollins J, Paneth N, Investigators E, Ware J, Coster T, Hanson B, Wilson R, McGhee K, Lee P, Asgarian A, Sadhwani A, Perrin E, Neger E, Mattern K, Walkowiak J, Barron S, Shah B, Singh R, Smith A, Klein D, McQuiston S, Venuti L, Powers B, Foley A, Dessureau B, Wood M, Damon-Minow J, Ehrenkranz R, Benjamin J, Romano E, Tsatsanis K, Chawarska K, Kim S, Dieterich S, Bearrs K, Peters N, Brown P, Ansusinha E, Waldrep E, Friedman J, Hounshell G, Allred D, Engelke S, Darden-Saad N, Stainback G, Warner D, Wereszczak J, Bernhardt J, McKeeman J, Meyer E, Pastyrnak S, Rathbun J, Nota S, Crumb T, Lenski M, Weiland D, Lloyd M, Hunter S, Msall M, Ramoskaite R, Wiggins S, Washington K, Martin R, Prendergast B, Scott M, Klarr J, Kring B, DeRidder J, Vogt K. Co-occurrence and Severity of Neurodevelopmental Burden (Cognitive Impairment, Cerebral Palsy, Autism Spectrum Disorder, and Epilepsy) at Age Ten Years in Children Born Extremely Preterm. Pediatric Neurology 2017, 79: 45-52. PMID: 29310907, PMCID: PMC5803305, DOI: 10.1016/j.pediatrneurol.2017.11.002.Peer-Reviewed Original ResearchConceptsCerebral palsyAge ten yearsNeurodevelopmental impairmentCognitive impairmentProspective cohort followAutism spectrum disorderMajor neurodevelopmental impairmentPercent of childrenThird of childrenQuarter of childrenCategory ICohort followGestational ageTen yearsNumber of impairmentsChildren BornImpairment severityMultiple diagnosesIII childrenEpilepsyNormal intellectImpairmentDiagnosisCategory IIITen-year-old childrenNeurocognitive Outcomes at 10 Years of Age in Extremely Preterm Newborns with Late-Onset Bacteremia
Bright H, Babata K, Allred E, Erdei C, Kuban K, Joseph R, O'Shea T, Leviton A, Dammann O, Investigators E, Ware J, Coster T, Hanson B, Wilson R, McGhee K, Lee P, Asgarian A, Sadhwani A, Perrin E, Neger E, Mattern K, Walkowiak J, Barron S, Shah B, Singh R, Smith A, Klein D, McQuiston S, Venuti L, Powers B, Foley A, Dessureau B, Wood M, Damon-Minow J, Ehrenkranz R, Benjamin J, Romano E, Tsatsanis K, Chawarska K, Kim S, Dieterich S, Bearrs K, Peters N, Brown P, Ansusinha E, Waldrep E, Friedman J, Hounshell G, Allred D, Engelke S, Darden-Saad N, Stainback G, Warner D, Wereszczak J, Bernhardt J, McKeeman J, Meyer E, Pastyrnak S, Rathbun J, Nota S, Crumb T, Lenski M, Weiland D, Lloyd M, Hunter S, Msall M, Ramoskaite R, Wiggins S, Washington K, Martin R, Prendergast B, Scott M, Klarr J, Kring B, DeRidder J, Vogt K. Neurocognitive Outcomes at 10 Years of Age in Extremely Preterm Newborns with Late-Onset Bacteremia. The Journal Of Pediatrics 2017, 187: 43-49.e1. PMID: 28526224, PMCID: PMC5533634, DOI: 10.1016/j.jpeds.2017.04.045.Peer-Reviewed Original ResearchConceptsLate-onset bacteremiaLow gestational age newbornsGeneral cognitive abilityNeurocognitive outcomesGestational age newbornsYears of agePostnatal week 2Age 10 yearsExtremely Preterm NewbornsCognitive abilitiesExecutive functionAge newbornsNeurocognitive limitationsLower IQWeek 2Academic achievementNeurocognitive functionBirth weight z-scoreEvidence of bacteremiaLower gestational ageWeight z-scoreDefinite bacteremiaWeeks of gestationMotor domainLate bacteremiaThe Relationship of Maternal Prepregnancy Body Mass Index and Pregnancy Weight Gain to Neurocognitive Function at Age 10 Years among Children Born Extremely Preterm
Jensen E, van der Burg J, O'Shea T, Joseph R, Allred E, Heeren T, Leviton A, Kuban K, Investigators E, Shah B, Singh R, Smith A, Klein D, McQuiston S, Rollins J, Douglass L, Ware J, Coster T, Henson B, Wilson R, McGhee K, Lee P, Asgarian A, Sadhwani A, Perrin E, Neger E, Mattern K, Walkowiak J, Barron S, Frazier J, Venuti L, Powers B, Foley A, Dessureau B, Wood M, Damon-Minow J, Ehrenkranz R, Benjamin J, Romano E, Tsatsanis K, Chawarska K, Kim S, Dieterich S, Bearrs K, O'Shea T, Peters N, Brown P, Ansusinha E, Waldrep E, Friedman J, Hounshell G, Allred D, Engelke S, Darden-Saad N, Stainback G, Warner D, Wereszczak J, Bernhardt J, McKeeman J, Meyer E, Pastyrnak S, Burdo-Hartman W, Rathbun J, Nota S, Crumb T, Lenski M, Weiland D, Lloyd M, Hunter S, Msall M, Ramoskaite R, Wiggins S, Washington K, Martin R, Prendergast B, Scott M, Klarr J, Kring B, DeRidder J, Vogt K. The Relationship of Maternal Prepregnancy Body Mass Index and Pregnancy Weight Gain to Neurocognitive Function at Age 10 Years among Children Born Extremely Preterm. The Journal Of Pediatrics 2017, 187: 50-57.e3. PMID: 28341527, PMCID: PMC5533624, DOI: 10.1016/j.jpeds.2017.02.064.Peer-Reviewed Original ResearchConceptsPrepregnancy body mass indexBody mass indexMaternal prepregnancy body mass indexPregnancy weight gainMass indexNeurocognitive functionWeight gainCohort of infantsMaternal prepregnancy obesityLower scoresYears of ageAge 10 yearsFine motor controlMaternal obesityPrepregnancy weightProspective multicenterCohort studyPrepregnancy obesitySingleton pregnanciesSchool-aged childrenNeurocognitive evaluationStudy participantsBehavioral interventionsTen-year-old childrenExpression assessment
2016
Parent-Endorsed Sex Differences in Toddlers with and Without ASD: Utilizing the M-CHAT
Øien RA, Hart L, Schjølberg S, Wall CA, Kim ES, Nordahl-Hansen A, Eisemann MR, Chawarska K, Volkmar FR, Shic F. Parent-Endorsed Sex Differences in Toddlers with and Without ASD: Utilizing the M-CHAT. Journal Of Autism And Developmental Disorders 2016, 47: 126-134. PMID: 27757737, PMCID: PMC5222910, DOI: 10.1007/s10803-016-2945-8.Peer-Reviewed Original ResearchPredictive Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm
Kim SH, Joseph RM, Frazier JA, O'Shea TM, Chawarska K, Allred EN, Leviton A, Kuban KK, Investigators E. Predictive Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm. The Journal Of Pediatrics 2016, 178: 101-107.e2. PMID: 27592094, PMCID: PMC5165696, DOI: 10.1016/j.jpeds.2016.07.052.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderBehavioral dysregulationM-CHATModified ChecklistCognitive impairmentPredictive validityGold standard diagnostic instrumentsStandard diagnostic instrumentsAge 2 yearsASD diagnosisSocioeconomic statusSpectrum disorderPreterm toddlersAge 24 monthsPreterm childrenToddlersAutismLow gestational age newbornsImpairmentSensorimotorDiagnostic instrumentAge 10 yearsVision impairmentChildrenChecklistProspective Longitudinal Studies of Infant Siblings of Children With Autism: Lessons Learned and Future Directions
Szatmari P, Chawarska K, Dawson G, Georgiades S, Landa R, Lord C, Messinger DS, Thurm A, Halladay A. Prospective Longitudinal Studies of Infant Siblings of Children With Autism: Lessons Learned and Future Directions. Journal Of The American Academy Of Child & Adolescent Psychiatry 2016, 55: 179-187. PMID: 26903251, PMCID: PMC4871151, DOI: 10.1016/j.jaac.2015.12.014.Peer-Reviewed Original Research
2008
Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders. American Journal Of Human Genetics 2008, 82: 165-173. PMID: 18179895, PMCID: PMC2253974, DOI: 10.1016/j.ajhg.2007.09.017.Peer-Reviewed Original ResearchConceptsAutism susceptibility candidate 2Contactin 4Plasma membrane fractionSynaptic plasma membrane fractionMolecular cytogenetic analysisComplex genetic etiologyRare variantsBioinformatics approachConserved positionNonsynonymous changesMembrane fractionRare homozygous mutationControl chromosomesBiochemical analysisNeurodevelopmental syndromeGenetic etiologyPathophysiology of ASDCandidate 2Recent findingsHomozygous mutationUnrelated familiesCytogenetic analysisMutationsVariantsResequencing