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Format should be in the following format: Activity Code, Institute Abbreviation, and Serial Number. Grant Type, Support Year, and Suffix should be excluded. For example, grant 1R01MH123456-01A1 should be entered R01MH123456

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SelectExperiment IdExperiment NameExperiment Type
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  • EEG
  • EGG
  • Eye Tracking
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  • fMRI
Created On
911Resting StatefMRI04/20/2018
910Modified Monetary Incentive Delay fMRI04/20/2018
908Resting State Pre-Stress Visit 1fMRI04/20/2018
907Montreal Imaging Stress Task Visit 1fMRI04/18/2018
9062-back Post-Stress Visit 1fMRI04/18/2018
9051-back Post-Stress Visit 1fMRI04/18/2018
9040-back Post-Stress Visit 1fMRI04/18/2018
9032-back Pre-Stress Visit 1fMRI04/18/2018
9021-back Pre-Stress Visit 1fMRI04/18/2018
9010-back Pre-Stress Visit 1fMRI04/18/2018
899Investigating a Neurobehavioral Mechanism of Paranoia - Resting State ScansfMRI04/06/2018
894Dot ProbeEye Tracking03/07/2018
893Startle Habituation and Shock Sensitivity EvaluationEEG03/03/2018
892NPU EEG Task EEG03/03/2018
891Duke ACE ETEye Tracking03/02/2018
888Emotion 1.1 Determining context effects during potential threatfMRI02/26/2018
884Plasma metabolic profileOmics02/05/2018
878Social Challenge AssessmentEye Tracking01/26/2018
876Mixed Anti and Pro (vgs) saccade mixed blocked (EyeTracking)Eye Tracking01/22/2018
875Attention modulation taskEye Tracking01/17/2018
874ruthldopa resting 17 and 18fMRI01/16/2018
873ruthldopa resting 15 and 16fMRI01/16/2018
872ruthldopa resting 13 and 14fMRI01/16/2018
871ruthldopa resting 11 and 12fMRI01/16/2018
870Resting State fMRIfMRI01/12/2018
867Velten Mood Induction State-ItemfMRI01/12/2018
866Emotional Hemifield Task (EHT)EEG01/12/2018
865Genome EditingOmics01/12/2018
855Regulating Emotional Responses to Visual Images Across the Affective Instability SpectrumfMRI01/12/2018
853R61 Ezogabine Resting State FMRIfMRI01/11/2018
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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
UIC ACE: Translational Studies of Insistence on Sameness in Autism
Ed Cook 
The UIC ACE was focused on the genetics, neurobiology, cognitive and affective processes, and pharmacology of insistence on sameness (IS) in autism spectrum disorders (ASD). A large sample of children with self-reported autism spectrum disorder will be screened by the Assessment Core for further screening by administration of the ADI-R to the parents. Profanes meeting ADI-R criteria for autistic disorder will be recruited for further study if they are also classified by the ADI-R IS items as high (N=150) or low IS (N=100). In addition, high IS subjects will need to score 15 or more on the sum of two IS factors on the RBS-R to avoid floor effects for the pharmacogenetic trial. These 250 subjects will all be included in project I, Genetics of Serotonin in Autism: Neurochemical and Clinical Endophenotypes, along with 225 previously studied subjects and their parents for a total of 475 trios. This project will study 25 serotonin- related genes for association with autism and with IS more specifically. Resequencing of strong candidate genes will be conducted with all of the subjects in the pharmacogenetic project (III) and with the low IS subjects in project II. In addition, the 250 subjects will have serotonin measures collected for analysis with genetic and phenotype measures. In Project II: Translational Studies of Cognitive, Affective and Neurochemical Processes Underlying Insistence on Sameness in Autism, fMRI studies of IS will be conducted on 50 high IS subjects also in Project III, 50 low IS subjects (also in Project I) and 50 control subjects. In addition, rat studies in which parallel behavioral and neurochemical approaches will be used. Project III: The Pharmacogenetics of Treatment for Insistence on Sameness in Autism has been designed to replicate and extend a preliminary study of escitalopram treatment of IS related irritability in ASD. Project IV: Autism-Associated Serotonin Transporter (SERT) Mutations will provide characterization of mutations previously found to be associated with high IS behaviors in subjects with autism.
Funding Completed
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NIH - Extramural None

P50HD055751-01 ACE: Translational Studies of Insistence on Sameness in Autism 08/06/2007 07/31/2012 800 680 UNIVERSITY OF ILLINOIS AT CHICAGO $9,528,855.00

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To create a new Omics, eye tracking, fMRI, or EEG experiment, press the "+ New Experiment" button. Once an experiment is created, then raw files for these types of experiments should be provided, associating the experiment – through Experiment_ID – with the metadata defined in the experiments interface.

IDNameCreated DateStatusType
409UIC ACE CIDR12/08/2015ApprovedOmics
52Illumina SNP/CNV array - Omni 109/04/2011ApprovedOmics
51Illumina SNP/CNV array09/04/2011ApprovedOmics

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Shared Data

Data structures with the number of subjects submitted and shared are provided.

Aberrant Behavior Checklist (ABC) - Community Clinical Assessments 286
Autism Diagnostic Interview, Revised (ADI-R) Clinical Assessments 277
Autism Diagnostic Observation Schedule (ADOS) - Module 1 (2007) Clinical Assessments 52
Autism Diagnostic Observation Schedule (ADOS) - Module 2 (2007) Clinical Assessments 31
Autism Diagnostic Observation Schedule (ADOS) - Module 4 Clinical Assessments 66
Autism Diagnostic Observation Schedule (ADOS)- Module 1 Clinical Assessments 44
Autism Diagnostic Observation Schedule (ADOS)- Module 2 Clinical Assessments 31
Autism Diagnostic Observation Schedule (ADOS)- Module 3 Clinical Assessments 139
Autism Diagnostic Observation Schedule (ADOS)- Module 3 (2007) Clinical Assessments 157
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1 Clinical Assessments 52
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2 Clinical Assessments 31
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3 Clinical Assessments 157
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4 Clinical Assessments 64
Broad Autism Phenotype Questionnaire (BAPQ) Clinical Assessments 355
CELF Preschool-2 Clinical Assessments 13
CELF-4 Clinical Eval of Lang Fundamentals, 4th ed Clinical Assessments 76
CHARGE Family Characteristics Questionnaire Clinical Assessments 198
CHARGE Medical History Clinical Assessments 247
CHARGE Physical Exam Clinical Assessments 253
Childhood Routines Inventory (CRI) Clinical Assessments 188
Children's Scale of Hostility and Aggression: Reactive/Proactive Clinical Assessments 48
Clinical Global Impression (CGI) Clinical Assessments 41
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 165
DAS-II:Differential Ability Scales 2nd Ed. Early Years Clinical Assessments 70
Demographics Clinical Assessments 265
Expressive One-Word Picture Vocabulary Test (2000) Clinical Assessments 154
Genomics Sample Genomics 537
Genomics Subject Genomics 688
Image Imaging 58
Karyotype Clinical Assessments 243
Modified CHARGE Family Medical History (2007) Clinical Assessments 201
Mullen Scales of Early Learning Clinical Assessments 30
Neurochemicals Test Form Genomics 594
Obsessive-Compulsive Inventory - Revised (OCI-R) Clinical Assessments 47
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 153
Peabody Picture Vocabulary Test, Fourth Edition-Form B Clinical Assessments 36
Preschool Language Scale, Fourth Edition (PLS-4) Clinical Assessments 18
Ravens Coloured Progressive Matrices (CPM) Clinical Assessments 10
Repetitive Behavior Scale - Revised (RBS-R) Clinical Assessments 312
Research Subject Clinical Assessments 256
SRS-2. Adult, Preschool and School Age Clinical Assessments 238
Social Communication Questionnaire (SCQ) - Current Form Clinical Assessments 29
Social Communication Questionnaire (SCQ) - Lifetime Clinical Assessments 270
Social Responsiveness Scale (SRS) Clinical Assessments 196
Social Responsiveness Scale (SRS) - Adult/Self Version Clinical Assessments 50
Tanner Sexual Maturity Scale Clinical Assessments 146
Vineland-II - Survey Form (2005) Clinical Assessments 259
Wechsler Abbreviated Scale of Intelligence (WASI) Clinical Assessments 106
Wechsler Adult Intelligence Scale Fourth Edition [part 1] Clinical Assessments 2

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:


Publications relevant to NDAR data are listed below. Most displayed publications have been associated with the grant within Pubmed. Use the "+ New Publication" button to add new publications. Publications relevant/not relevant to data expected are categorized. Relevant publications are then linked to the underlying data by selecting the Create Study link. Study provides the ability to define cohorts, assign subjects, define outcome measures and lists the study type, data analysis and results. Analyzed data and results are expected in this way.

PubMed IDStudyTitleJournalAuthorsDateStatus
29052841Create StudyCognitive mechanisms of inhibitory control deficits in autism spectrum disorder.Journal of child psychology and psychiatry, and allied disciplinesSchmitt LM, White SP, Cook EH, Sweeney JA, Mosconi MWOctober 2017Not Determined
28540026Create StudyMeta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.Molecular autismAutism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium2017Not Relevant
28407363Create StudyDe novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.American journal of medical genetics. Part ASagar A, Pinto D, Najjar F, Guter SJ, Macmillan C, Cook EHApril 13, 2017Relevant
28401654Create StudyIs there sexual dimorphism of hyperserotonemia in autism spectrum disorder?Autism research : official journal of the International Society for Autism ResearchShuffrey LC, Guter SJ, Delaney S, Jacob S, Anderson GM, Sutcliffe JS, Cook EH, Veenstra-VanderWeele JApril 12, 2017Relevant
28344757Study (416)Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.Molecular autismChen R, Davis LK, Guter S, Wei Q, Jacob S, Potter MH, Cox NJ, Cook EH, Sutcliffe JS, Li B2017Relevant
27940149Create StudyClose genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs.GenomicsZhu Z, Lu X, Yuan D, Huang SJanuary 2017Not Determined
27920663Study (427)ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.Frontiers in neuroscienceFrancis SM, Kim SJ, Kistner-Griffin E, Guter S, Cook EH, Jacob SJanuary 2016Relevant
27727243Create StudyAlterations in the functional neural circuitry supporting flexible choice behavior in autism spectrum disorders.Translational psychiatryD'Cruz AM, Mosconi MW, Ragozzino ME, Cook EH, Sweeney JAOctober 2016Not Determined
27717169Create Study5HT2A receptor blockade in dorsomedial striatum reduces repetitive behaviors in BTBR mice.Genes, brain, and behaviorAmodeo DA, Rivera E, Cook EH, Sweeney JA, Ragozzino MESeptember 2016Not Determined
27328765Create StudyThe impact of genotype calling errors on family-based studies.Scientific reportsYan Q, Chen R, Sutcliffe JS, Cook EH, Weeks DE, Li B, Chen WJune 2016Not Determined
27267245Create StudyCognitive flexibility impairment and reduced frontal cortex BDNF expression in the ouabain model of mania.NeuroscienceAmodeo DA, Grospe G, Zang H, Dwivedi Y, Ragozzino MEJune 2016Relevant
27242401Study (404)Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes.Frontiers in neuroscienceFrancis SM, Kistner-Griffin E, Yan Z, Guter S, Cook EH, Jacob S2016Relevant
27155985Create StudyMotor Memory Deficits Contribute to Motor Impairments in Autism Spectrum Disorder.Journal of autism and developmental disordersNeely KA, Mohanty S, Schmitt LM, Wang Z, Sweeney JA, Mosconi MWMay 7, 2016Not Determined
26976089Create StudyPedunculopontine tegmental nucleus lesions impair probabilistic reversal learning by reducing sensitivity to positive reward feedback.Neurobiology of learning and memorySyed A, Baker PM, Ragozzino MEMay 2016Not Relevant
26744772Create StudyConfirmation of the Factor Structure and Measurement Invariance of the Children's Scale of Hostility and Aggression: Reactive/Proactive in Clinic-Referred Children With and Without Autism Spectrum Disorder.Journal of child and adolescent psychopharmacologyFarmer CA, Kaat AJ, Mazurek MO, Lainhart JE, DeWitt MB, Cook EH, Butter EM, Aman MGFebruary 2016Not Determined
26608837Create StudyThe sensitivity and specificity of the social communication questionnaire for autism spectrum with respect to age.Autism research : official journal of the International Society for Autism ResearchBarnard-Brak L, Brewer A, Chesnut S, Richman D, Schaeffer AMNovember 26, 2015Not Determined
26463344Create StudySignificant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications.Acta neuropathologica communicationsWegiel J, Flory M, Schanen NC, Cook EH, Nowicki K, Kuchna I, Imaki H, Ma SY, Wegiel J, London E, Casanova MF, Wisniewski T, Brown WT2015Not Determined
26335740Create StudySensorimotor dysfunctions as primary features of autism spectrum disorders.Science China. Life sciencesMosconi MW, Sweeney JAOctober 2015Not Determined
26313485Create StudyEscitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in autism spectrum disorder.Pharmacogenetics and genomicsBishop JR, Najjar F, Rubin LH, Guter SJ, Owley T, Mosconi MW, Jacob S, Cook EHNovember 2015Relevant
26262902Create StudyPharmacogenetic Study of Serotonin Transporter and 5HT2A Genotypes in Autism.Journal of child and adolescent psychopharmacologyNajjar F, Owley T, Mosconi MW, Jacob S, Hur K, Guter SJ, Sweeney JA, Gibbons RD, Cook EH, Bishop JRAugust 2015Not Determined
26239494Create StudyRelative Timing Between Kappa Opioid Receptor Activation and Cocaine Determines the Impact on Reward and Dopamine Release.Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyChartoff EH, Ebner SR, Sparrow A, Potter D, Baker PM, Ragozzino ME, Roitman MFMarch 2016Not Determined
26151311Create StudyAn ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data.Journal of biomedical informaticsMugzach O, Peleg M, Bagley SC, Guter SJ, Cook EH, Altman RBAugust 2015Not Determined
25653359Create StudyFeedforward and feedback motor control abnormalities implicate cerebellar dysfunctions in autism spectrum disorder.The Journal of neuroscience : the official journal of the Society for NeuroscienceMosconi MW, Mohanty S, Greene RK, Cook EH, Vaillancourt DE, Sweeney JAFebruary 4, 2015Not Relevant
25568282Create StudyA haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.Bioinformatics (Oxford, England)Chen R, Wei Q, Zhan X, Zhong X, Sutcliffe JS, Cox NJ, Cook EH, Li C, Chen W, Li BMay 1, 2015Not Relevant
25409314Create StudyProtein interaction networks reveal novel autism risk genes within GWAS statistical noise.PloS oneCorreia C, Oliveira G, Vicente AM2014Not Determined
25400899Create StudySaccadic eye movement abnormalities in autism spectrum disorder indicate dysfunctions in cerebellum and brainstem.Molecular autismSchmitt LM, Cook EH, Sweeney JA, Mosconi MWJanuary 2014Not Determined
25363760Create StudySynaptic, transcriptional and chromatin genes disrupted in autism.NatureDe Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Ercument Cicek A, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu SC, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, et al.November 13, 2014Not Relevant
25307299Create StudyStructural architecture of SNP effects on complex traits.American journal of human geneticsGamazon ER, Cox NJ, Davis LKNovember 6, 2014Not Relevant
25270638Create StudyConsensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.Bioinformatics (Oxford, England)Trubetskoy V, Rodriguez A, Dave U, Campbell N, Crawford EL, Cook EH, Sutcliffe JS, Foster I, Madduri R, Cox NJ, Davis LKJanuary 15, 2015Not Relevant
25234483Create StudyCognitive set shifting deficits and their relationship to repetitive behaviors in autism spectrum disorder.Journal of autism and developmental disordersMiller HL, Ragozzino ME, Cook EH, Sweeney JA, Mosconi MWMarch 2015Not Relevant
25131546Create StudyEpigenetic mechanisms in autism spectrum disorder.International review of neurobiologyZhubi A, Cook EH, Guidotti A, Grayson DR2014Not Relevant
25086666Create StudyA framework for the interpretation of de novo mutation in human disease.Nature geneticsSamocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, et al.September 2014Not Relevant
25038753Create StudyMost genetic risk for autism resides with common variation.Nature geneticsGaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CM, Devlin B, Roeder K, Buxbaum JDAugust 2014Not Determined
25028395Create StudyContralateral disconnection of the rat prelimbic cortex and dorsomedial striatum impairs cue-guided behavioral switching.Learning & memory (Cold Spring Harbor, N.Y.)Baker PM, Ragozzino MEAugust 2014Not Relevant
24894823Create StudyRisperidone and the 5-HT2A Receptor Antagonist M100907 Improve Probabilistic Reversal Learning in BTBR T¿+¿tf/J Mice.Autism research : official journal of the International Society for Autism ResearchAmodeo DA, Jones JH, Sweeney JA, Ragozzino MEOctober 2014Not Relevant
24634087Create StudyA deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.Autism research : official journal of the International Society for Autism ResearchCeroni F, Sagar A, Simpson NH, Gawthrope AJ, Newbury DF, Pinto D, Francis SM, Tessman DC, Cook EH, Monaco AP, Maestrini E, Pagnamenta AT, Jacob SApril 2014Not Relevant
24497627Create StudyAggression in children with autism spectrum disorders and a clinic-referred comparison group.Autism : the international journal of research and practiceFarmer C, Butter E, Mazurek MO, Cowan C, Lainhart J, Cook EH, Dewitt MB, Aman MApril 2015Not Determined
24475125Create StudyExpression of microRNAs and other small RNAs in prefrontal cortex in schizophrenia, bipolar disorder and depressed subjects.PloS oneSmalheiser NR, Lugli G, Zhang H, Rizavi H, Cook EH, Dwivedi Y2014Not Relevant
24448211Create StudyIncreased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.Translational psychiatryZhubi A, Chen Y, Dong E, Cook EH, Guidotti A, Grayson DR2014Not Relevant
24365486Create StudyVisual motion processing and visual sensorimotor control in autism.Journal of the International Neuropsychological Society : JINSTakarae Y, Luna B, Minshew NJ, Sweeney JAJanuary 2014Not Determined
24246555Create StudyThe prelimbic cortex and subthalamic nucleus contribute to cue-guided behavioral switching.Neurobiology of learning and memoryBaker PM, Ragozzino MEJanuary 2014Not Relevant
23979605Create StudyDe novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder.Molecular psychiatryHamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN, , Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli ADaly MJGibbs RABoerwinkle EBuxbaum JDCook EHDevlin BLim ETNeale BMRoeder KSabo ASchellenberg GDStevens CSutcliffe JSDecember 2013Not Determined
23956104Create StudyParental broader autism subphenotypes in ASD affected families: relationship to gender, child's symptoms, SSRI treatment, and platelet serotonin.Autism research : official journal of the International Society for Autism ResearchLevin-Decanini T, Maltman N, Francis SM, Guter S, Anderson GM, Cook EH, Jacob SDecember 2013Relevant
23704935Create StudyDynamic regulation of extracellular signal-regulated kinase (ERK) by protein phosphatase 2A regulatory subunit B56γ1 in nuclei induces cell migration.PloS oneKawahara E, Maenaka S, Shimada E, Nishimura Y, Sakurai H2013Not Relevant
23704934Create StudySaccade adaptation abnormalities implicate dysfunction of cerebellar-dependent learning mechanisms in Autism Spectrum Disorders (ASD).PloS oneMosconi MW, Luna B, Kay-Stacey M, Nowinski CV, Rubin LH, Scudder C, Minshew N, Sweeney JA2013Not Relevant
23593035Create StudyAnalysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.PLoS geneticsLiu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, et al.April 2013Not Relevant
23527643Create StudyReduced behavioral flexibility in autism spectrum disorders.NeuropsychologyD'Cruz AM, Ragozzino ME, Mosconi MW, Shrestha S, Cook EH, Sweeney JAMarch 2013Not Determined
23443968Create StudyCo-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.American journal of medical genetics. Part ASagar A, Bishop JR, Tessman DC, Guter S, Martin CL, Cook EHApril 2013Not Relevant
23352160Create StudyRare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.NeuronLim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, et al.January 23, 2013Not Determined
23303926Create StudyAmphetamine paradoxically augments exocytotic dopamine release and phasic dopamine signals.The Journal of neuroscience : the official journal of the Society for NeuroscienceDaberkow DP, Brown HD, Bunner KD, Kraniotis SA, Doellman MA, Ragozzino ME, Garris PA, Roitman MFJanuary 9, 2013Not Relevant
22843504Create StudyIndividual common variants exert weak effects on the risk for autism spectrum disorderspi.Human molecular geneticsAnney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, et al.November 1, 2012Not Determined
22721594Create StudyExamining autism spectrum disorders by biomarkers: example from the oxytocin and serotonin systems.Journal of the American Academy of Child and Adolescent PsychiatryHammock E, Veenstra-VanderWeele J, Yan Z, Kerr TM, Morris M, Anderson GM, Carter CS, Cook EH, Jacob SJuly 2012Not Determined
22678932Create StudyRare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.American journal of medical genetics. Part ADavis LK, Maltman N, Mosconi MW, Macmillan C, Schmitt L, Moore K, Francis SM, Jacob S, Sweeney JA, Cook EHJuly 2012Not Determined
22591576Create StudyLoci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci.Molecular autismDavis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ2012Not Relevant
22511880Create StudyWhole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.PLoS geneticsChahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, , Greenberg ME, Gabriel SB, Walsh CA2012Not Determined
22495311Create StudyPatterns and rates of exonic de novo mutations in autism spectrum disorders.NatureNeale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, et al.May 10, 2012Not Relevant
22487857Create StudyDifferences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Journal of neuropathology and experimental neurologyWegiel J, Schanen NC, Cook EH, Sigman M, Brown WT, Kuchna I, Nowicki K, Wegiel J, Imaki H, Ma SY, Marchi E, Wierzba-Bobrowicz T, Chauhan A, Chauhan V, Cohen IL, London E, Flory M, Lach B, Wisniewski TMay 2012Not Relevant
22370873Create StudyConsensus paper: pathological role of the cerebellum in autism.Cerebellum (London, England)Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JPSeptember 2012Not Relevant
22219222Create StudyThe selective serotonin reuptake inhibitor, escitalopram, enhances inhibition of prepotent responding and spatial reversal learning.Journal of psychopharmacology (Oxford, England)Brown HD, Amodeo DA, Sweeney JA, Ragozzino MENovember 2012Not Relevant
22135384Create StudyThe selective M1 muscarinic cholinergic agonist CDD-0102A enhances working memory and cognitive flexibility.The Journal of pharmacology and experimental therapeuticsRagozzino ME, Artis S, Singh A, Twose TM, Beck JE, Messer WSMarch 2012Not Relevant
22122410Create StudyPrimary food reward and reward-predictive stimuli evoke different patterns of phasic dopamine signaling throughout the striatum.The European journal of neuroscienceBrown HD, McCutcheon JE, Cone JJ, Ragozzino ME, Roitman MFDecember 2011Not Relevant
22056750Create StudyDifferences in BTBR T+ tf/J and C57BL/6J mice on probabilistic reversal learning and stereotyped behaviors.Behavioural brain researchAmodeo DA, Jones JH, Sweeney JA, Ragozzino MEFebruary 1, 2012Not Relevant
21996756Create StudyA novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.Human geneticsCasey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, et al.April 2012Not Determined
21989804Create StudyThe effects of PRX-07034, a novel 5-HT6 antagonist, on cognitive flexibility and working memory in rats.PsychopharmacologyMohler EG, Baker PM, Gannon KS, Jones SS, Shacham S, Sweeney JA, Ragozzino MEApril 2012Not Relevant
21925291Create StudyMitochondrial small RNAs that are up-regulated in hippocampus during olfactory discrimination training in mice.MitochondrionSmalheiser NR, Lugli G, Thimmapuram J, Cook EH, Larson JNovember 2011Not Relevant
21881965Create StudyRepetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome.Journal of neurodevelopmental disordersFlores CG, Valcante G, Guter S, Zaytoun A, Wray E, Bell L, Jacob S, Lewis MH, Driscoll DJ, Cook EH, Kim SJDecember 2011Not Relevant
21760656Create StudyEstimation and Classification of BOLD Responses Over Multiple Trials.Communications in statistics: theory and methodsKapur K, Roy A, Bhaumik DK, Gibbons RD, Lazar NA, Sweeney JA, Aryal S, Patterson D2009Not Relevant
21753921Create StudyHypothesis testing, power and sample size determination for between group comparisons in fMRI experiments.Statistical methodologyBhaumik DK, Roy A, Lazar NA, Kapur K, Aryal S, Sweeney JA, Patterson D, Gibbons RDMarch 2009Not Relevant
21703496Create StudyIdentification of genetic loci underlying the phenotypic constructs of autism spectrum disorders.Journal of the American Academy of Child and Adolescent PsychiatryLiu XQ, Georgiades S, Duku E, Thompson A, Devlin B, Cook EH, Wijsman EM, Paterson AD, Szatmari PJuly 2011Not Relevant
21609426Create StudyA quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders.Molecular autismKim SJ, Silva RM, Flores CG, Jacob S, Guter S, Valcante G, Zaytoun AM, Cook EH, Badner JA2011Not Determined
21522181Create StudyGene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.European journal of human genetics : EJHGAnney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L, , Buxbaum JD, Sutcliffe J, Gill M, Gallagher LBailey AJFernandez BASzatmari PScherer SWPatterson AMarshall CRPinto DVincent JBFombonne EBetancur CDelorme RLeboyer MBourgeron TMantoulan CRoge BTauber MFreitag CMPoustka FDuketis EKlauck SMPoustka APapanikolaou KTsiantis JGallagher LGill MAnney RBolshakova NBrennan SHughes GMcGrath JMerikangas AEnnis SGreen ACasey JPConroy JMRegan RShah NMaestrini EBacchelli EMinopoli FStoppioni VBattaglia AIgliozzi RParrini BTancredi ROliveira GAlmeida JDuque FVicente ACorreia CMagalhaes TRGillberg CNygren Gde Jonge MVan Engeland HVorstman JAWittemeyer KBaird GBolton PFRutter MLGreen JLamb JAPickles AParr JRCouteur ALBerney TMcConachie HWallace SCoutanche MFoley SWhite KMonaco APHolt RFarrar PPagnamenta ATMirza GKRagoussis JSousa ISykes NWing KHallmayer JCantor RMNelson SFGeschwind DHAbrahams BSVolkmar FPericak-Vance MACuccaro MLGilbert JCook EHGuter SJJacob SNurnberger JIMcDougle CJPosey DJLord CCorsello CHus VBuxbaum JDKolevzon ASoorya LParkhomenko ELeventhal BLDawson GVieland VJHakonarson HGlessner JTKim CWang KSchellenberg GDDevlin BKlei LMinshew NSutcliffe JSHaines JLLund SCThomson SYaspan BLCoon HMiller JMcMahon WMMunson JEstes AWijsman EMOctober 2011Not Determined
21484201Create StudyNovel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.Journal of neurodevelopmental disordersVieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P, June 2011Not Determined
21302342Create StudyParent-of-origin effects of the serotonin transporter gene associated with autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsKistner-Griffin E, Brune CW, Davis LK, Sutcliffe JS, Cox NJ, Cook EHMarch 2011Not Relevant
21281720Create StudyHuman reversal learning under conditions of certain versus uncertain outcomes.NeuroImageD'Cruz AM, Ragozzino ME, Mosconi MW, Pavuluri MN, Sweeney JAMay 1, 2011Not Relevant
21232556Create StudyDifferential effects of 5-HT(2A) and 5-HT(2C) receptor blockade on strategy-switching.Behavioural brain researchBaker PM, Thompson JL, Sweeney JA, Ragozzino MEMay 16, 2011Not Relevant
21085054Create StudyFamily-based association testing of glutamate transporter genes in autism.Psychiatric geneticsJacob S, Brune CW, Badner JA, Ernstrom K, Courchesne E, Lord C, Leventhal BL, Cook EH, Kim SJAugust 2011Not Relevant
21045079Create StudyEndogenous siRNAs and noncoding RNA-derived small RNAs are expressed in adult mouse hippocampus and are up-regulated in olfactory discrimination training.RNA (New York, N.Y.)Smalheiser NR, Lugli G, Thimmapuram J, Cook EH, Larson JJanuary 2011Not Relevant
20980596Create StudyThe parafascicular thalamic nucleus concomitantly influences behavioral flexibility and dorsomedial striatal acetylcholine output in rats.The Journal of neuroscience : the official journal of the Society for NeuroscienceBrown HD, Baker PM, Ragozzino MEOctober 27, 2010Not Relevant
20844286Create StudyDisruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.Science translational medicineNoor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, et al.September 15, 2010Not Relevant
20679591Create StudyNeurobehavioral abnormalities in first-degree relatives of individuals with autism.Archives of general psychiatryMosconi MW, Kay M, D'Cruz AM, Guter S, Kapur K, Macmillan C, Stanford LD, Sweeney JAAugust 2010Not Relevant
20663923Create StudyA genome-wide scan for common alleles affecting risk for autism.Human molecular geneticsAnney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, et al.October 15, 2010Not Determined
20531469Create StudyFunctional impact of global rare copy number variation in autism spectrum disorders.NaturePinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, et al.July 15, 2010Not Determined
20089945Create StudyThalamic integrity underlies executive dysfunction in traumatic brain injury.NeurologyLittle DM, Kraus MF, Joseph J, Geary EK, Susmaras T, Zhou XJ, Pliskin N, Gorelick PBFebruary 16, 2010Not Relevant
20020537Create StudyA pharmacogenetic study of escitalopram in autism spectrum disorders.Autism research : official journal of the International Society for Autism ResearchOwley T, Brune CW, Salt J, Walton L, Guter S, Ayuyao N, Gibbons RD, Leventhal BL, Cook EHFebruary 2010Not Determined
19935738Create StudyMaternal transmission of a rare GABRB3 signal peptide variant is associated with autism.Molecular psychiatryDelahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH, Macdonald RL, Sutcliffe JSJanuary 2011Not Relevant
19404257Create StudyAutism genome-wide copy number variation reveals ubiquitin and neuronal genes.NatureGlessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, et al.May 28, 2009Not Determined
19404256Create StudyCommon genetic variants on 5p14.1 associate with autism spectrum disorders.NatureWang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, et al.May 28, 2009Not Relevant
19232577Create StudyLateralized response timing deficits in autism.Biological psychiatryD'Cruz AM, Mosconi MW, Steele S, Rubin LH, Luna B, Minshew N, Sweeney JAAugust 15, 2009Not Relevant
19154646Create StudyImpaired inhibitory control is associated with higher-order repetitive behaviors in autism spectrum disorders.Psychological medicineMosconi MW, Kay M, D'Cruz AM, Seidenfeld A, Guter S, Stanford LD, Sweeney JASeptember 2009Not Relevant
18954478Create StudyPatterns of visual sensory and sensorimotor abnormalities in autism vary in relation to history of early language delay.Journal of the International Neuropsychological Society : JINSTakarae Y, Luna B, Minshew NJ, Sweeney JANovember 2008Not Relevant
18923514Create StudyCopy-number variations associated with neuropsychiatric conditions.NatureCook EH, Scherer SWOctober 16, 2008Not Relevant
18827719Create StudyIntegrating functional brain neuroimaging and developmental cognitive neuroscience in child psychiatry research.Journal of the American Academy of Child and Adolescent PsychiatryPavuluri MN, Sweeney JANovember 2008Not Relevant
18632090Create StudyGenome-wide linkage analyses of quantitative and categorical autism subphenotypes.Biological psychiatryLiu XQ, Paterson AD, Szatmari P, October 2008Not Determined

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
28407363Create StudyDe novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.American journal of medical genetics. Part ASagar A, Pinto D, Najjar F, Guter SJ, Macmillan C, Cook EHApril 13, 2017
28401654Create StudyIs there sexual dimorphism of hyperserotonemia in autism spectrum disorder?Autism research : official journal of the International Society for Autism ResearchShuffrey LC, Guter SJ, Delaney S, Jacob S, Anderson GM, Sutcliffe JS, Cook EH, Veenstra-VanderWeele JApril 12, 2017
27267245Create StudyCognitive flexibility impairment and reduced frontal cortex BDNF expression in the ouabain model of mania.NeuroscienceAmodeo DA, Grospe G, Zang H, Dwivedi Y, Ragozzino MEJune 2016
26313485Create StudyEscitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in autism spectrum disorder.Pharmacogenetics and genomicsBishop JR, Najjar F, Rubin LH, Guter SJ, Owley T, Mosconi MW, Jacob S, Cook EHNovember 2015
23956104Create StudyParental broader autism subphenotypes in ASD affected families: relationship to gender, child's symptoms, SSRI treatment, and platelet serotonin.Autism research : official journal of the International Society for Autism ResearchLevin-Decanini T, Maltman N, Francis SM, Guter S, Anderson GM, Cook EH, Jacob SDecember 2013
Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Ravens Coloured Progressive Matrices (CPM) info iconApproved
Medical History info iconApproved
Vineland (Parent and Caregiver) info iconApproved
ADI-R info iconApproved
genomics/omics info iconApproved
Research Subject and Pedigree info iconApproved
Repetitive Behavior Scale - Revised (RBS-R) info iconApproved
Social Communication Questionnaire (SCQ) info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
Imaging (Structural, fMRI, DTI, PET, microscopy) info iconApproved
ABC Community info iconApproved
ADOS info iconApproved
Clinical Evaluation of Language Fundamentals (CELF) info iconApproved
Broad Autism Phenotype Questionnaire (BAPQ) info iconApproved
Childhood Routines Inventory (CRI) info iconApproved
Wechsler Adult Intelligence Scale info iconApproved
Mullen Scales of Early Learning info iconApproved
Clinical Global Impression (CGI) info iconApproved
Genetic Test info iconApproved
Wechsler Abbreviated Scale of Intelligence (WASI) info iconApproved
Obsessive-Compulsive Inventory - Revised (OCI-R) info iconApproved
Expressive One-Word Picture Vocabulary Test (2000) info iconApproved
Childrens Scale of Hostility and Aggression: Reactive/Proactive info iconApproved
Physical Exam info iconApproved
Preschool Language Scale (PLS) info iconApproved
DAS-II: Differential Ability Scales info iconApproved
Tanner Sexual Maturity Scale info iconApproved
Peabody Picture Vocabulary Test, Fourth Edition info iconApproved
Demographics info iconApproved
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Associated Studies

Studies that have been defined using data from a Collection are important criteria to determine the value of data shared. The number of subjects column displays the counts from this Collection that are included in a Study, out of the total number of subjects in that study. The Data Use column represents whether or not the study is a primary analysis of the data or a secondary analysis. State indicates whether the study is private or shared with the research community.

Study NameAbstractCollection/Study SubjectsData UsageState
Unravelling the Collective Diagnostic Power Behind the Features in the Autism Diagnostic Observation ScheduleBackground: Autism is a group of heterogeneous disorders defined by deficits in social interaction and communication. Typically, diagnosis depends on the results of a behavioural examination called the Autism Diagnostic Observation Schedule (ADOS). Unfortunately, administration of the ADOS exam is time-consuming and requires a significant amount of expert intervention, leading to delays in diagnosis and access to early intervention programs. The diagnostic power of each feature in the ADOS exam is currently unknown. Our hypothesis is that certain features could be removed from the exam without a significant reduction in diagnostic accuracy, sensitivity or specificity. Objective: Determine the smallest subset of predictive features in ADOS module-1 (an exam variant for patients with minimal verbal skills). Methodology: ADOS module-1 datasets were acquired from the Autism Genetic Resource Exchange and the National Database for Autism Research. The datasets contained 2572 samples with the following labels: autism (1763), autism spectrum (513), and non-autism (296). The datasets were used as input to 4 different cost-sensitive classifiers in Weka (functional trees, LADTree, logistic model trees, and PART). For each classifier, a 10-fold cross validation was preformed and the number of predictive features, accuracy, sensitivity, and specificity was recorded. Results & Conclusion: Each classifier resulted in a reduction of the number of ADOS features required for autism diagnosis. The LADtree classifier was able to obtain the largest reduction, utilizing only 10 of 29 ADOS module-1 features (96.8% accuracy, 96.9% sensitivity, and 95.9% specificity). Overall, these results are a step towards a more efficient behavioural exam for autism diagnosis. 44/2172Secondary AnalysisShared
Psychometric Analysis of the Social Communication Questionnaire Using an Item-Response Theory Framework: Implications for the Use of the Lifetime and Current FormsThe Social Communication Questionnaire (SCQ) was developed as a screener of Autism Spectrum Disorder (ASD). To date, the majority of the SCQ utility studies focused on its external validity (e.g., ROC curve analyses), but very few have addressed the internal validity issues. With samples consisting of 2,134 individuals available from the National Database for Autism Research (NDAR), the current study examined the factor structure, item-level characteristics, and measurement equivalence of the SCQ forms (i.e., Lifetime form and Current form) using both the classical true score theory and the item response theory (IRT). While our findings indicate sufficient psychometric properties of the SCQ Lifetime form, measurement issues emerged with respect to the SCQ Current form. These issues include lower internal consistencies, a weaker factor structure, lower item discriminations, significant pseudo-guessing effects, and subscale-level measurement bias. Thus, we caution researchers and clinicians about the use of the SCQ Current form. In particular, it seems inappropriate to use the Current form as an alternative to the Lifetime form among children younger than 5 years old or under other special situations (e.g., teacher-report data), although such practices were advised by the publisher of the SCQ. Instead, we recommend modifying the wording of the Lifetime form items rather than switching to the Current form where a 3-month timeframe is specified for responding to SCQ items. Future studies may consider investigating the association between the temporality of certain behaviors and the individual’s potential for being diagnosed with ASD, as well as the age neutrality of the SCQ.295/2134Secondary AnalysisShared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using C-PAC pipeline and ANTsAn automated pipeline was developed to reference Neuroimages hosted by the National Database for Autism Research (NDAR) and derive volumes for distinct brain structures using Advanced Normalization Tools (ANTs) and the Configurable-Pipeline for the Analysis of Connectomes (C-PAC) platform. This pipeline utilized the ANTs cortical thickness methodology discuessed in "Large-Scale Evaluation of ANTs and Freesurfer Cortical Tchickness Measurements" [http://www.ncbi.nlm.nih.gov/pubmed/24879923] to extract a cortical thickness volume from T1-weighted anatomical MRI data gathered from the NDAR database. This volume was then registered to an stereotaxic-space anatomical template (OASIS-30 Atropos Template) which was acquired from the Mindboggle Project webpage [http://mindboggle.info/data.html]. After registration, the mean cortical thickness was calculated at 31 ROIs on each hemisphere of the cortex and using the Desikan-Killiany-Tourville (DKT-31) cortical labelling protocol [http://mindboggle.info/faq/labels.html] over the OASIS-30 template. **NOTE: This study is ongoing; additional data my be available in the future.** As a result, each subject that was processed has a cortical thickness volume image and a text file with the mean thickness ROIs (in mm) stored in Amazon Web Services (AWS) Simple Storage Service (S3). Additionally, these results were tabulated in an AWS-hosted database (through NDAR) to enable simple, efficient querying and data access. All of the code used to perform this analysis is publicly available on Github [https://github.com/FCP-INDI/ndar-dev]. Additionally, as a computing platform, we developed an Amazon Machine Image (AMI) that comes fully equipped to run this pipeline on any dataset. Using AWS Elastic Cloud Computing (EC2), users can launch our publicly available AMI ("C-PAC with benchmark", AMI ID: "ami-fee34296", N. Virginia region) and run the ANTs cortical thickness pipeline. The AMI is fully compatible with Sun Grid Engine as well; this enables users to perform many pipeline runs in parallel over a cluster-computing framework.2/1540Secondary AnalysisShared
Revising the Social Communication Questionnaire scoring procedures for Autism Spectrum Disorder and potential Social Communication DisorderIn analyzing data from the National Database for Autism Research, we examine revising the Social Communication Questionnaire (SCQ), a commonly used screening instrument for Autism Spectrum Disorder. A combination of Item Response Theory and Mokken scaling techniques were utilized to achieve this and abbreviated scoring of the SCQ is suggested. The psychometric sensitivity of this abbreviated SCQ was examined via bootstrapped Receiver Operator Characteristic (ROC) curve analyses. Additionally, we examined the sensitivity of the abbreviated and total scaled SCQ as it relates to a potential diagnosis of Social (Pragmatic) Communication Disorder (SCD). As SCD is a new disorder introduced with the fifth edition of the Diagnostic and Statistical Manual (DSM-5), we identified individuals with potential diagnosis of SCD among individuals with ASD via mixture modeling techniques using the same NDAR data. These analyses revealed two classes or clusters of individuals when considering the two core areas of impairment among individuals with ASD: social communication and restricted, repetitive patterns of behavior. 277/1021Secondary AnalysisShared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using LONI WorkflowsLONI utilized de-identified data from NDAR's cloud and a LONI Pipeline (pipeline.loni.usc.edu) processing workflow to perform a secondary structural MRI examination. The workflow used in this study pulls data from and provided by NDAR to an instance on the LONI compute cluster, aligns data to a standard orientation using FSLreorient2stsd, and undergoes further image processing to eventually identify, extract, and analyze cortical and sub-cortical structures in different MRI brain volumes. Two methods were used for this image processing: the first uses Freesurfer Recon_All to extract brain cortical parcellation and surfaces, align the data to an atlas, and identify, and analyze regions of interest; the second uses FSL to extract the brain (BET), align the data to an atlas, and extract ROIs including sub-cortical regions using FSL FIRST. The second method also uses Freesurfer (mri_segstats) to perform statistical analysis of these ROIs. Lastly, the LONI Pipeline workflow updates and returns the data processed and extracted by Freesurfer and FSL as a miNDAR back to NDAR's cloud storage instance. These results can be used to assess quality control or be used to perform post-hoc comparisons of cortical and sub-cortical brain architecture between subject types. See also, Torgerson et al. (2015) Brain Imaging and Behavior, for additional details on using LONI Pipeline to access and process NDAR data.2/780Secondary AnalysisShared
Predictors of self-injurious behaviour exhibited by individuals with autism spectrum disorderPresence of an autism spectrum disorder is a risk factor for development of self-injurious behaviour (SIB) exhibited by individuals with developmental disorders. The most salient SIB risk factors historically studied within developmental disorders are level of intellectual disability, communication deficits and presence of specific genetic disorders. Recent SIB research has expanded the search for risk factors to include less commonly studied variables for people with developmental disorders: negative affect, hyperactivity and impulsivity.324/611Secondary AnalysisShared
Variants in adjacent oxytocin/vasopressin gene region and associations with ASD diagnosis and autism related endophenotypes Background: There has been increasing interest in oxytocin (peptide: OT, gene: OXT) as a treatment pathway for neurodevelopmental disorders such as Autism Spectrum Disorder (ASD). Neurodevelopmental disorders affect functional, social, and intellectual abilities. With advances in molecular biology, research has connected multiple gene regions to the clinical presentation of ASD. Studies have also shown that the neuropeptide hormones OT and arginine vasopressin (AVP) influence mammalian social and territorial behaviors and may have treatment potential for neurodevelopmental disorders. Published data examining molecular and phenotypic variation in ASD, such as cognitive abilities, are limited. Since most studies have focused on the receptors in the OT-AVP system, we investigated genetic variation within peptide genes for association with phenotypic ASD features that help identify subgroups within the spectrum. Methods: In this study, TDT analysis was carried out utilizing FBAT in 207 probands (156 trios) and a European Ancestry (EA) subsample (108 trios). The evolutionarily related and adjacent genes of OXT and AVP were studied for associations between the tagged single nucleotide polymorphisms and ASD diagnosis, social abilities, restrictive and repetitive behaviors, and IQ for cognitive abilities. Additionally, relationships with whole blood serotonin (WB5HT) were explored because of the developmental relationships connecting plasma levels of OT and WB5HT within ASD. Results: Results indicate significant association between OXT rs6084258 (p=0.001) and ASD. Associations with several intermediate phenotypes were also noted: OXT rs6133010 was associated with IQ (full scale IQ, p=0.008; nonverbal IQ, p=0.009, verbal IQ, p=0.006); and OXT rs6084258 and OXT rs877172 were associated with WB5HT levels (EA, p=0.029 and p=0.050, respectively). Additionally, we measured plasma OT (pOT) levels in a subsample (N=54). Results show the same two polymorphisms, OXT rs877172 and OXT rs6084258, have significant association with pOT (EA, p=0.002 and p=0.011, respectively). Conclusions: These findings suggest that SNPs near OXT and AVP are associated with diagnosis of ASD, social behaviors, restricted and repetitive behaviors, IQ, pOT, and WB5HT. Future studies need to replicate these findings and examine gene-interactions in other neurodevelopmental disorders. Mechanisms of action may influence early social and cognitive development that may or may not be limited to ASD diagnosis. 575/575Primary AnalysisShared
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.Background: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers is an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown. Methods: In this study, pursuing the hypothesis that de novo variants (DNVs) and rare risk alleles acting in a recessive mode may play an important role in predisposition of hyperserotonemia in people with ASD, we carried out whole exome sequencing (WES) in 116 ASD parents-proband trios with most (107) probands having 5-HT measurements. Results: Combined with published ASD DNVs, we identified USP15 as having recurrent de novo gene with loss of function mutations, and provided evidence supporting two other known genes with recurrent DNVs (FOXP1 and KDM5B). Genes harboring functional DNVs significantly overlap with functional/disease gene sets known to be involved in ASD etiology, including FMRP targets and synaptic formation and transcriptional regulation genes. We dichotomized the probands into High-5HT and Normal-5HT groups based on normalized serotonin levels and identified novel genes related to the TGF- pathway in the High-5HT group using Network-based Gene Enrichment Analysis (NGSEA). Through analysis of rare recessively acting variants (RAVs), we found that rare compound heterozygotes (CHs) in the High-5HT group were enriched for loci in an ASD-associated gene set. Finally, we carried out rare variant group-wise transmission disequilibrium tests and observed significant association of rare variants in genes encoding the serotonin pathway with ASD. Conclusions: Our study identified novel genes harboring DNVs implicated in ASD. Leveraging 5-HT as an endophenotype, we identified genes pointing to the TGF- pathway as potentially contributing to hyperserotonemia in ASD. Our study demonstrates the value of 5-HT as an effective endophenotype for gene discovery in ASD, evincing the need for greater collection of proband 5-HT data for future ASD genetics studies. 348/348Primary AnalysisShared
The Sensitivity and Specificity of the Social Communication Questionnaire for Autism Spectrum Disorder with Respect to AgeScientific Abstract The Social Communication Questionnaire (SCQ) assesses communication skills and social functioning in screening for symptoms of autism-spectrum disorder (ASD). The SCQ is recommended for individuals between 4 to 40 years with a cutoff score of 15 for referral. Mixed findings have been reported regarding the recommended cutoff score’s ability to accurately classify an individual as at-risk for ASD (sensitivity) versus an individual as not at-risk for ASD (specificity). Based on a sample from the National Database for Autism Research (n=344; age: 1.58 to 25.92 years old), the present study examined the SCQ’s sensitivity versus specificity across a range of ages. We recommend that the cutoff scores for the SCQ be re-evaluated with age as a consideration. Lay Abstract The age neutrality of the Social Communication Questionnaire (SCQ) was examined as a common screener for ASD. Mixed findings have been reported regarding the recommended cutoff score’s ability to accurately classify an individual as at-risk for ASD (sensitivity) versus accurately classifying an individual as not at-risk for ASD (specificity). With a sample from the National Database for Autism Research, the present study examined the SCQ’s sensitivity versus specificity. Analyses indicated that the actual sensitivity and specificity scores were lower than initially reported by the creators of the SCQ.3/339Secondary AnalysisShared
* Data not on individual level