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1 Numbers reported are subjects by age
New Trial
New Project

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

Please select an experiment type below

Collection - Use Existing Experiment
To associate an experiment to the current collection, just select an axperiment from the table below then click the associate experiment button to persist your changes (saving the collection is not required). Note that once an experiment has been associated to two or more collections, the experiment will not longer be editable.

The table search feature is case insensitive and targets the experiment id, experiment name and experiment type columns. The experiment id is searched only when the search term entered is a number, and filtered using a startsWith comparison. When the search term is not numeric the experiment name is used to filter the results.
SelectExperiment IdExperiment NameExperiment Type
Created On
24HI-NGS_R1Omics02/16/2011
475MB1-10 (CHOP)Omics06/07/2016
490Illumina Infinium PsychArray BeadChip AssayOmics07/07/2016
501PharmacoBOLD Resting StatefMRI07/27/2016
506PVPREFOmics08/05/2016
509ABC-CT Resting v2EEG08/18/2016
13Comparison of FI expression in Autistic and Neurotypical Homo SapiensOmics12/28/2010
18AGRE/Broad Affymetrix 5.0 Genotype ExperimentOmics01/06/2011
22Stitching PCR SequencingOmics02/14/2011
26ASD_MethylationOmics03/01/2011
29Microarray family 03 (father, mother, sibling)Omics03/24/2011
37Standard paired-end sequencing of BCRsOmics04/19/2011
38Illumina Mate-Pair BCR sequencingOmics04/19/2011
39Custom Jumping LibrariesOmics04/19/2011
40Custom CapBPOmics04/19/2011
41ImmunofluorescenceOmics05/11/2011
43Autism brain sample genotyping, IlluminaOmics05/16/2011
47ARRA Autism Sequencing Collaboration at Baylor. SOLiD 4 SystemOmics08/01/2011
53AGRE Omni1-quadOmics10/11/2011
59AGP genotypingOmics04/03/2012
60Ultradeep 454 sequencing of synaptic genes from postmortem cerebella of individuals with ASD and neurotypical controlsOmics06/23/2012
63Microemulsion PCR and Targeted Resequencing for Variant Detection in ASDOmics07/20/2012
76Whole Genome Sequencing in Autism FamiliesOmics01/03/2013
519RestingfMRI11/08/2016
90Genotyped IAN SamplesOmics07/09/2013
91NJLAGS Axiom Genotyping ArrayOmics07/16/2013
93AGP genotyping (CNV)Omics09/06/2013
106Longitudinal Sleep Study. H20 200. Channel set 2EEG11/07/2013
107Longitudinal Sleep Study. H20 200. Channel set 3EEG11/07/2013
108Longitudinal Sleep Study. AURA 200EEG11/07/2013
105Longitudinal Sleep Study. H20 200. Channel set 1EEG11/07/2013
109Longitudinal Sleep Study. AURA 400EEG11/07/2013
116Gene Expression Analysis WG-6Omics01/07/2014
131Jeste Lab UCLA ACEii: Charlie Brown and Sesame Street - Project 1Eye Tracking02/27/2014
132Jeste Lab UCLA ACEii: Animacy - Project 1Eye Tracking02/27/2014
133Jeste Lab UCLA ACEii: Mom Stranger - Project 2Eye Tracking02/27/2014
134Jeste Lab UCLA ACEii: Face Emotion - Project 3Eye Tracking02/27/2014
145AGRE/FMR1_Illumina.JHUOmics04/14/2014
146AGRE/MECP2_Sanger.JHUOmics04/14/2014
147AGRE/MECP2_Junior.JHUOmics04/14/2014
151Candidate Gene Identification in familial AutismOmics06/09/2014
152NJLAGS Whole Genome SequencingOmics07/01/2014
154Math Autism Study - Vinod MenonfMRI07/15/2014
155RestingfMRI07/25/2014
156SpeechfMRI07/25/2014
159EmotionfMRI07/25/2014
160syllable contrastEEG07/29/2014
167School-age naturalistic stimuliEye Tracking09/19/2014
44AGRE/Broad Affymetrix 5.0 Genotype ExperimentOmics06/27/2011
45Exome Sequencing of 20 Sporadic Cases of Autism Spectrum DisorderOmics07/15/2011
Collection - Add Experiment
Add Supporting Documentation
Select File

To add an existing Data Structure, enter its title in the search bar. If you need to request changes, select the indicator "No, it requires changes to meet research needs" after selecting the Structure, and upload the file with the request changes specific to the selected Data Structure. Your file should follow the Request Changes Procedure. If the Data Structure does not exist, select "Request New Data Structure" and upload the appropriate zip file.

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The Data Expected list for this Collection shows some raw data as missing. Contact the NDA Help Desk with any questions.

Please confirm that you will not be enrolling any more subjects and that all raw data has been collected and submitted.

Collection Updated

Your Collection is now in Data Analysis phase and exempt from biannual submissions. Analyzed data is still expected prior to publication or no later than the project end date.

[CMS] Attention
[CMS] Please confirm that you will not be enrolling any more subjects and that all raw data has been collected and submitted.
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[CMS]

Unable to change collection phase where targeted enrollment is less than 90%

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You have requested to move the sharing dates for the following assessments:
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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. Probands 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.
NIMH Data Archive
04/01/2008
Autism Centers of Excellence (ACE), NIMH Repository & Genomics Resource (NRGR)
Funding Completed
Close Out
No
$9,528,855.00
3,796
Loading Chart...
NIH - Extramural None



P50HD055751-01 ACE: Translational Studies of Insistence on Sameness in Autism 08/06/2007 07/31/2014 800 680 UNIVERSITY OF ILLINOIS AT CHICAGO $9,528,855.00

helpcenter.collection.general-tab

NDA Help Center

Collection - General Tab

Fields available for edit on the top portion of the page include:

  • Collection Title
  • Investigators
  • Collection Description
  • Collection Phase
  • Funding Source
  • Clinical Trials

Collection Phase: The current status of a research project submitting data to an NDA Collection, based on the timing of the award and/or the data that have been submitted.

  • Pre-Enrollment: The default entry made when the NDA Collection is created.
  • Enrolling: Data have been submitted to the NDA Collection or the NDA Data Expected initial submission date has been reached for at least one data structure category in the NDA Collection.
  • Data Analysis: Subject level data collection for the research project is completed and has been submitted to the NDA Collection. The NDA Collection owner or the NDA Help Desk may set this phase when they’ve confirmed data submission is complete and submitted subject counts match at least 90% of the target enrollment numbers in the NDA Data Expected. Data submission reminders will be turned off for the NDA Collection.
  • Funding Completed: The NIH grant award (or awards) associated with the NDA Collection has reached its end date. NDA Collections in Funding Completed phase are assigned a subphase to indicate the status of data submission.
    • The Data Expected Subphase indicates that NDA expects more data will be submitted
    • The Closeout Subphase indicates the data submission is complete.
    • The Sharing Not Met Subphase indicates that data submission was not completed as expected.

Blinded Clinical Trial Status:

  • This status is set by a Collection Owner and indicates the research project is a double blinded clinical trial. When selected, the public view of Data Expected will show the Data Expected items and the Submission Dates, but the targeted enrollment and subjects submitted counts will not be displayed.
  • Targeted enrollment and subjects submitted counts are visible only to NDA Administrators and to the NDA Collection or as the NDA Collection Owner.
  • When an NDA Collection that is flagged Blinded Clinical Trial reaches the maximum data sharing date for that Data Repository (see https://nda.nih.gov/nda/sharing-regimen.html), the embargo on Data Expected information is released.

Funding Source

The organization(s) responsible for providing the funding is listed here.

Supporting Documentation

Users with Submission privileges, as well as Collection Owners, Program Officers, and those with Administrator privileges, may upload and attach supporting documentation. By default, supporting documentation is shared to the general public, however, the option is also available to limit this information to qualified researchers only.

Grant Information

Identifiable details are displayed about the Project of which the Collection was derived from. You may click in the Project Number to view a full report of the Project captured by the NIH.

Clinical Trials

Any data that is collected to support or further the research of clinical studies will be available here. Collection Owners and those with Administrator privileges may add new clinical trials.

Frequently Asked Questions

  • How does the NIMH Data Archive (NDA) determine which Permission Group data are submitted into?
    During Collection creation, NDA staff determine the appropriate Permission Group based on the type of data to be submitted, the type of access that will be available to data access users, and the information provided by the Program Officer during grant award.
  • How do I know when a NDA Collection has been created?
    When a Collection is created by NDA staff, an email notification will automatically be sent to the PI(s) of the grant(s) associated with the Collection to notify them.
  • Is a single grant number ever associated with more than one Collection?
    The NDA system does not allow for a single grant to be associated with more than one Collection; therefore, a single grant will not be listed in the Grant Information section of a Collection for more than one Collection.
  • Why is there sometimes more than one grant included in a Collection?
    In general, each Collection is associated with only one grant; however, multiple grants may be associated if the grant has multiple competing segments for the same grant number or if multiple different grants are all working on the same project and it makes sense to hold the data in one Collection (e.g., Cooperative Agreements).

Glossary

  • Administrator Privilege
    A privilege provided to a user associated with an NDA Collection or NDA Study whereby that user can perform a full range of actions including providing privileges to other users.
  • Collection Owner
    Generally, the Collection Owner is the contact PI listed on a grant. Only one NDA user is listed as the Collection owner. Most automated emails are primarily sent to the Collection Owner.
  • Collection Phase
    The Collection Phase provides information on data submission as opposed to grant/project completion so while the Collection phase and grant/project phase may be closely related they are often different. Collection users with Administrative Privileges are encouraged to edit the Collection Phase. The Program Officer as listed in eRA (for NIH funded grants) may also edit this field. Changes must be saved by clicking the Save button at the bottom of the page. This field is sortable alphabetically in ascending or descending order. Collection Phase options include:
    • Pre-Enrollment: A grant/project has started, but has not yet enrolled subjects.
    • Enrolling: A grant/project has begun enrolling subjects. Data submission is likely ongoing at this point.
    • Data Analysis: A grant/project has completed enrolling subjects and has completed all data submissions.
    • Funding Completed: A grant/project has reached the project end date.
  • Collection Title
    An editable field with the title of the Collection, which is often the title of the grant associated with the Collection.
  • Grant
    Provides the grant number(s) for the grant(s) associated with the Collection. The field is a hyperlink so clicking on the Grant number will direct the user to the grant information in the NIH Research Portfolio Online Reporting Tools (RePORT) page.
  • Supporting Documentation
    Various documents and materials to enable efficient use of the data by investigators unfamiliar with the project and may include the research protocol, questionnaires, and study manuals.
  • NIH Research Initiative
    NDA Collections may be organized by scientific similarity into NIH Research Initiatives, to facilitate query tool user experience. NIH Research Initiatives map to one or multiple Funding Opportunity Announcements.
  • Permission Group
    Access to shared record-level data in NDA is provisioned at the level of a Permission Group. NDA Permission Groups consist of one or multiple NDA Collections that contain data with the same subject consents.
  • Planned Enrollment
    Number of human subject participants to be enrolled in an NIH-funded clinical research study. The data is provided in competing applications and annual progress reports.
  • Actual Enrollment
    Number of human subjects enrolled in an NIH-funded clinical research study. The data is provided in annual progress reports.
  • NDA Collection
    A virtual container and organization structure for data and associated documentation from one grant or one large project/consortium. It contains tools for tracking data submission and allows investigators to define a wide array of other elements that provide context for the data, including all general information regarding the data and source project, experimental parameters used to collect any event-based data contained in the Collection, methods, and other supporting documentation. They also allow investigators to link underlying data to an NDA Study, defining populations and subpopulations specific to research aims.
  • Data Use Limitations
    Data Use Limitations (DULs) describe the appropriate secondary use of a dataset and are based on the original informed consent of a research participant. NDA only accepts consent-based data use limitations defined by the NIH Office of Science Policy.
  • Total Subjects Shared
    The total number of unique subjects for whom data have been shared and are available for users with permission to access data.
IDNameCreated DateStatusType
51Illumina SNP/CNV array09/04/2011ApprovedOmics
52Illumina SNP/CNV array - Omni 109/04/2011ApprovedOmics
2925-HTTLPR04/06/2015ApprovedOmics
409UIC ACE CIDR12/08/2015ApprovedOmics
helpcenter.collection.experiments-tab

NDA Help Center

Collection - Experiments

The number of Experiments included is displayed in parentheses next to the tab name. You may download all experiments associated with the Collection via the Download button. You may view individual experiments by clicking the Experiment Name and add them to the Filter Cart via the Add to Cart button.

Collection Owners, Program Officers, and users with Submission or Administrative Privileges for the Collection may create or edit an Experiment.

Please note: The creation of an NDA Experiment does not necessarily mean that data collected, according to the defined Experiment, has been submitted or shared.

Frequently Asked Questions

  • Can an Experiment be associated with more than one Collection?

    Yes -see the “Copy” button in the bottom left when viewing an experiment. There are two actions that can be performed via this button:

    1. Copy the experiment with intent for modifications.
    2. Associate the experiment to the collection. No modifications can be made to the experiment.

Glossary

  • Experiment Status
    An Experiment must be Approved before data using the associated Experiment_ID may be uploaded.
  • Experiment ID
    The ID number automatically generated by NDA which must be included in the appropriate file when uploading data to link the Experiment Definition to the subject record.
AURORA Flash Survey Latent Construct Anxiety Clinical Assessments 2543
Aberrant Behavior Checklist (ABC) - Community Clinical Assessments 218
Autism Diagnostic Interview, Revised (ADI-R) Clinical Assessments 230
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 112
Autism Diagnostic Observation Schedule (ADOS)- Module 3 (2007) Clinical Assessments 59
Autism Diagnostic Observation Schedule (ADOS)- Module 4 Clinical Assessments 1
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 318
CELF Preschool-2 Clinical Assessments 13
CELF-4 Clinical Eval of Lang Fundamentals, 4th ed Clinical Assessments 76
CHARGE Family Characteristics Questionnaire Clinical Assessments 159
CHARGE Medical History Clinical Assessments 189
CHARGE Physical Exam Clinical Assessments 252
Childhood Routines Inventory (CRI) Clinical Assessments 144
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 263
Expressive One-Word Picture Vocabulary Test (2000) Clinical Assessments 154
Genomics Sample Genomics 1009
Genomics Subject Genomics 1010
Image Imaging 58
Karyotype Clinical Assessments 243
Modified CHARGE Family Medical History (2007) Clinical Assessments 154
Modified CHARGE Family Medical History (rev July 2007) Clinical Assessments 1
Mullen Scales of Early Learning Clinical Assessments 30
Neurochemicals Test Form Clinical Assessments 594
Obsessive-Compulsive Inventory - Revised (OCI-R) Clinical Assessments 48
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 221
Research Subject Clinical Assessments 257
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 271
Social Responsiveness Scale (SRS) Clinical Assessments 183
Social Responsiveness Scale (SRS) - Adult Version Clinical Assessments 3
Social Responsiveness Scale (SRS) - Adult/Self Version Clinical Assessments 50
Tanner Sexual Maturity Scale Clinical Assessments 146
Vineland-II - Survey Form (2005) Clinical Assessments 220
WASI-2 Clinical Assessments 32
Wechsler Abbreviated Scale of Intelligence (WASI) Clinical Assessments 105
Wechsler Adult Intelligence Scale Fourth Edition [part 1] Clinical Assessments 2
helpcenter.collection.shared-data-tab

NDA Help Center

Collection - Shared Data

This tab provides a quick overview of the Data Structure title, Data Type, and Number of Subjects that are currently Shared for the Collection. The information presented in this tab is automatically generated by NDA and cannot be edited. If no information is visible on this tab, this would indicate the Collection does not have shared data or the data is private.

The shared data is available to other researchers who have permission to access data in the Collection's designated Permission Group(s). Use the Download button to get all shared data from the Collection to the Filter Cart.

Frequently Asked Questions

  • How will I know if another researcher uses data that I shared through the NIMH Data Archive (NDA)?
    To see what data your project have submitted are being used by a study, simply go the Associated Studies tab of your collection. Alternatively, you may review an NDA Study Attribution Report available on the General tab.
  • Can I get a supplement to share data from a completed research project?
    Often it becomes more difficult to organize and format data electronically after the project has been completed and the information needed to create a GUID may not be available; however, you may still contact a program staff member at the appropriate funding institution for more information.
  • Can I get a supplement to share data from a research project that is still ongoing?
    Unlike completed projects where researchers may not have the information needed to create a GUID and/or where the effort needed to organize and format data becomes prohibitive, ongoing projects have more of an opportunity to overcome these challenges. Please contact a program staff member at the appropriate funding institution for more information.

Glossary

  • Data Structure
    A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
  • Data Type
    A grouping of data by similar characteristics such as Clinical Assessments, Omics, or Neurosignal data.
  • Shared
    The term 'Shared' generally means available to others; however, there are some slightly different meanings based on what is Shared. A Shared NDA Study is viewable and searchable publicly regardless of the user's role or whether the user has an NDA account. A Shared NDA Study does not necessarily mean that data used in the NDA Study have been shared as this is independently determined. Data are shared according the schedule defined in a Collection's Data Expected Tab and/or in accordance with data sharing expectations in the NDA Data Sharing Terms and Conditions. Additionally, Supporting Documentation uploaded to a Collection may be shared independent of whether data are shared.

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

Publications

Publications relevant to NDA 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
34716740Create StudyVisuomotor brain network activation and functional connectivity among individuals with autism spectrum disorder.Human brain mappingLepping, Rebecca J; McKinney, Walker S; Magnon, Grant C; Keedy, Sarah K; Wang, Zheng; Coombes, Stephen A; Vaillancourt, David E; Sweeney, John A; Mosconi, Matthew WFebruary 1, 2022Not Determined
31729143Study (784)Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.American journal of medical genetics. Part ABojanek, Erin K; Mosconi, Matthew W; Guter, Stephen; Betancur, Catalina; Macmillan, Carol; Cook, Edwin HJanuary 2020Relevant
30927179Study (543)Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder.Journal of autism and developmental disordersAaron, Elizabeth; Montgomery, Alicia; Ren, Xinguo; Guter, Stephen; Anderson, George; Carneiro, Ana M D; Jacob, Suma; Mosconi, Matthew; Pandey, Ghanshyam N; Cook, Edwin; Veenstra-VanderWeele, JeremyJune 2019Relevant
30392628Study (544)Maternal Serotonin Levels Are Associated With Cognitive Ability and Core Symptoms in Autism Spectrum Disorder.Journal of the American Academy of Child and Adolescent PsychiatryMontgomery AK, Shuffrey LC, Guter SJ, Anderson GM, Jacob S, Mosconi MW, Sweeney JA, Turner JB, Sutcliffe JS, Cook EH, Veenstra-VanderWeele JNovember 2018Relevant
29374536Create StudyCognitive Flexibility Deficits Following 6-OHDA Lesions of the Rat Dorsomedial Striatum.NeuroscienceGrospe GM, Baker PM, Ragozzino MEMarch 2018Not Relevant
29193861Create StudyThe adenosine A2A receptor agonist, CGS 21680, attenuates a probabilistic reversal learning deficit and elevated grooming behavior in BTBR mice.Autism research : official journal of the International Society for Autism ResearchAmodeo, Dionisio A; Cuevas, Laura; Dunn, Jeffrey T; Sweeney, John A; Ragozzino, Michael EFebruary 1, 2018Not Determined
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 2017Relevant
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 Consortium2017Relevant
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, Angela; Pinto, Dalila; Najjar, Fedra; Guter, Stephen J; Macmillan, Carol; Cook, Edwin HJune 1, 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
28018266Create StudyInhibitory Control Processes and the Strategies That Support Them during Hand and Eye Movements.Frontiers in psychologySchmitt, Lauren M; Ankeny, Lisa D; Sweeney, John A; Mosconi, Matthew WJanuary 1, 2016Not Determined
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, Sunday M; Kim, Soo-Jeong; Kistner-Griffin, Emily; Guter, Stephen; Cook, Edwin H; Jacob, SumaJanuary 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, D A; Rivera, E; Cook Jr, E H; Sweeney, J A; Ragozzino, M EMarch 2017Not 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, Dionisio A; Grospe, Gena; Zang, Hui; Dwivedi, Yogesh; Ragozzino, Michael EMarch 2017Relevant
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, Kristina A; Mohanty, Suman; Schmitt, Lauren M; Wang, Zheng; Sweeney, John A; Mosconi, Matthew WJuly 1, 2019Not Determined
26976089Create StudyPedunculopontine tegmental nucleus lesions impair probabilistic reversal learning by reducing sensitivity to positive reward feedback.Neurobiology of learning and memorySyed, Anam; Baker, Phillip M; Ragozzino, Michael EMay 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
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21760656Create StudyEstimation and Classification of BOLD Responses Over Multiple Trials.Communications in statistics: theory and methodsKapur, Kush; Roy, Anindya; Bhaumik, Dulal K; Gibbons, Robert D; Lazar, Nicole A; Sweeney, John A; Aryal, Subhash; Patterson, Dave2009Not Relevant
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21703496Create StudyIdentification of genetic loci underlying the phenotypic constructs of autism spectrum disorders.Journal of the American Academy of Child and Adolescent PsychiatryLiu, Xiao-Qing; Georgiades, Stelios; Duku, Eric; Thompson, Ann; Devlin, Bernie; Cook, Edwin H; Wijsman, Ellen M; Paterson, Andrew D; Szatmari, PeterJuly 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, Richard J L; Kenny, Elaine M; O'Dushlaine, Colm; Yaspan, Brian L; Parkhomenka, Elena; Buxbaum, Joseph D; Sutcliffe, James; Gill, Michael; Gallagher, Louise; Autism Genome Project; Buxbaum, Joseph D; Sutcliffe, James; Gill, Michael; Gallagher, LouiseOctober 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, Veronica J; Hallmayer, Joachim; Huang, Yungui; Pagnamenta, Alistair T; Pinto, Dalila; Khan, Hameed; Monaco, Anthony P; Paterson, Andrew D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Autism Genome Project (AGP)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, Emily; Brune, Camille W; Davis, Lea K; Sutcliffe, James S; Cox, Nancy J; Cook Jr, Edwin HMarch 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, Holden D; Baker, Phillip M; Ragozzino, Michael EOctober 27, 2010Not Relevant
20844286Create StudyDisruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.Science translational medicineNoor, Abdul; Whibley, Annabel; Marshall, Christian R; Gianakopoulos, Peter J; Piton, Amelie; Carson, Andrew R; Orlic-Milacic, Marija; Lionel, Anath C; Sato, Daisuke; Pinto, Dalila; Drmic, Irene; Noakes, Carolyn; Senman, Lili; Zhang, Xiaoyun; Mo, Rong; Gauthier, Julie; Crosbie, Jennifer; Pagnamenta, Alistair T; Munson, Jeffrey; Estes, Annette M; Fiebig, Andreas; Franke, Andre; Schreiber, Stefan; Stewart, Alexandre F R; Roberts, Robert; McPherson, Ruth; Guter, Stephen J; Cook Jr, Edwin H; Dawson, Geraldine; Schellenberg, Gerard D; Battaglia, Agatino; Maestrini, Elena; Autism Genome Project Consortium; Jeng, Linda; Hutchison, Terry; Rajcan-Separovic, Evica; Chudley, Albert E; Lewis, Suzanne M E; Liu, Xudong; Holden, Jeanette J; Fernandez, Bridget; Zwaigenbaum, Lonnie; Bryson, Susan E; Roberts, Wendy; Szatmari, Peter; Gallagher, Louise; Stratton, Michael R; Gecz, Jozef; Brady, Angela F; Schwartz, Charles E; Schachar, Russell J; Monaco, Anthony P; Rouleau, Guy A; Hui, Chi-Chung; Lucy Raymond, F; Scherer, Stephen W; Vincent, John BSeptember 15, 2010Not Relevant
20679591Create StudyNeurobehavioral abnormalities in first-degree relatives of individuals with autism.Archives of general psychiatryMosconi, Matthew W; Kay, Margaret; D'Cruz, Anna-Maria; Guter, Stephen; Kapur, Kush; Macmillan, Carol; Stanford, Lisa D; Sweeney, John AAugust 2010Not Relevant
20663923Create StudyA genome-wide scan for common alleles affecting risk for autism.Human molecular geneticsAnney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Sykes, Nuala; Pagnamenta, Alistair T; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chu, Su H; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Melhem, Nadine M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Miller, Judith; Monaco, Anthony P; Nurnberger Jr, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Devlin, Bernie; Ennis, Sean; Hallmayer, JoachimOctober 15, 2010Not Determined
20531469Create StudyFunctional impact of global rare copy number variation in autism spectrum disorders.NaturePinto, Dalila; Pagnamenta, Alistair T; Klei, Lambertus; Anney, Richard; Merico, Daniele; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Almeida, Joana; Bacchelli, Elena; Bader, Gary D; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Bryson, Susan E; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chung, Brian H Y; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Cytrynbaum, Cheryl; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Andrew; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Pilorge, Marion; Piven, Joseph; Ponting, Chris P; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Sequeira, Ana F; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stein, Olaf; Sykes, Nuala; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Webber, Caleb; Weksberg, Rosanna; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Wu, Jing; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Devlin, Bernie; Ennis, Sean; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Hallmayer, Joachim; Miller, Judith; Monaco, Anthony P; Nurnberger Jr, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Scherer, Stephen W; Sutcliffe, James S; Betancur, CatalinaJuly 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, R J; Kang, J Q; Brune, C W; Kistner, E O; Courchesne, E; Cox, N J; Cook Jr, E H; Macdonald, R L; Sutcliffe, J SJanuary 2011Not Relevant
19404257Create StudyAutism genome-wide copy number variation reveals ubiquitin and neuronal genes.NatureGlessner, Joseph T; Wang, Kai; Cai, Guiqing; Korvatska, Olena; Kim, Cecilia E; Wood, Shawn; Zhang, Haitao; Estes, Annette; Brune, Camille W; Bradfield, Jonathan P; Imielinski, Marcin; Frackelton, Edward C; Reichert, Jennifer; Crawford, Emily L; Munson, Jeffrey; Sleiman, Patrick M A; Chiavacci, Rosetta; Annaiah, Kiran; Thomas, Kelly; Hou, Cuiping; Glaberson, Wendy; Flory, James; Otieno, Frederick; Garris, Maria; Soorya, Latha; Klei, Lambertus; Piven, Joseph; Meyer, Kacie J; Anagnostou, Evdokia; Sakurai, Takeshi; Game, Rachel M; Rudd, Danielle S; Zurawiecki, Danielle; McDougle, Christopher J; Davis, Lea K; Miller, Judith; Posey, David J; Michaels, Shana; Kolevzon, Alexander; Silverman, Jeremy M; Bernier, Raphael; Levy, Susan E; Schultz, Robert T; Dawson, Geraldine; Owley, Thomas; McMahon, William M; Wassink, Thomas H; Sweeney, John A; Nurnberger, John I; Coon, Hilary; Sutcliffe, James S; Minshew, Nancy J; Grant, Struan F A; Bucan, Maja; Cook, Edwin H; Buxbaum, Joseph D; Devlin, Bernie; Schellenberg, Gerard D; Hakonarson, HakonMay 28, 2009Not Determined
19404256Create StudyCommon genetic variants on 5p14.1 associate with autism spectrum disorders.NatureWang, Kai; Zhang, Haitao; Ma, Deqiong; Bucan, Maja; Glessner, Joseph T; Abrahams, Brett S; Salyakina, Daria; Imielinski, Marcin; Bradfield, Jonathan P; Sleiman, Patrick M A; Kim, Cecilia E; Hou, Cuiping; Frackelton, Edward; Chiavacci, Rosetta; Takahashi, Nagahide; Sakurai, Takeshi; Rappaport, Eric; Lajonchere, Clara M; Munson, Jeffrey; Estes, Annette; Korvatska, Olena; Piven, Joseph; Sonnenblick, Lisa I; Alvarez Retuerto, Ana I; Herman, Edward I; Dong, Hongmei; Hutman, Ted; Sigman, Marian; Ozonoff, Sally; Klin, Ami; Owley, Thomas; Sweeney, John A; Brune, Camille W; Cantor, Rita M; Bernier, Raphael; Gilbert, John R; Cuccaro, Michael L; McMahon, William M; Miller, Judith; State, Matthew W; Wassink, Thomas H; Coon, Hilary; Levy, Susan E; Schultz, Robert T; Nurnberger, John I; Haines, Jonathan L; Sutcliffe, James S; Cook, Edwin H; Minshew, Nancy J; Buxbaum, Joseph D; Dawson, Geraldine; Grant, Struan F A; Geschwind, Daniel H; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Hakonarson, HakonMay 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, M W; Kay, M; D'Cruz, A-M; Seidenfeld, A; Guter, S; Stanford, L D; Sweeney, J ASeptember 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, Yukari; Luna, Beatriz; Minshew, Nancy J; Sweeney, John ANovember 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, Xiao-Qing; Paterson, Andrew D; Szatmari, Peter; Autism Genome Project ConsortiumOctober 2008Not Determined
helpcenter.collection.publications-tab

NDA Help Center

Collection - Publications

The number of Publications is displayed in parentheses next to the tab name. Clicking on any of the Publication Titles will open the Publication in a new internet browsing tab.

Collection Owners, Program Officers, and users with Submission or Administrative Privileges for the Collection may mark a publication as either Relevant or Not Relevant in the Status column.

Frequently Asked Questions

  • How can I determine if a publication is relevant?
    Publications are considered relevant to a collection when the data shared is directly related to the project or collection.
  • Where does the NDA get the publications?
    PubMed, an online library containing journals, articles, and medical research. Sponsored by NiH and National Library of Medicine (NLM).

Glossary

  • Create Study
    A link to the Create an NDA Study page that can be clicked to start creating an NDA Study with information such as the title, journal and authors automatically populated.
  • Not Determined Publication
    Indicates that the publication has not yet been reviewed and/or marked as Relevant or Not Relevant so it has not been determined whether an NDA Study is expected.
  • Not Relevant Publication
    A publication that is not based on data related to the aims of the grant/project associated with the Collection or not based on any data such as a review article and, therefore, an NDA Study is not expected to be created.
  • PubMed
    PubMed provides citation information for biomedical and life sciences publications and is managed by the U.S. National Institutes of Health's National Library of Medicine.
  • PubMed ID
    The PUBMed ID is the unique ID number for the publication as recorded in the PubMed database.
  • Relevant Publication
    A publication that is based on data related to the aims of the grant/project associated with the Collection and, therefore, an NDA Study is expected to be created.
Data Expected List: Mandatory Data Structures

These data structures are mandatory for your NDA Collection. Please update the Targeted Enrollment number to accurately represent the number of subjects you expect to submit for the entire study.

For NIMH HIV-related research that involves human research participants: Select the dictionary or dictionaries most appropriate for your research. If your research does not require all three data dictionaries, just ignore the ones you do not need. There is no need to delete extra data dictionaries from your NDA Collection. You can adjust the Targeted Enrollment column in the Data Expected tab to “0” for those unnecessary data dictionaries. At least one of the three data dictionaries must have a non-zero value.

Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Research Subject and Pedigree info icon
68001/15/2009
1,072
Approved
To create your project's Data Expected list, use the "+New Data Expected" to add or request existing structures and to request new Data Structures that are not in the NDA Data Dictionary.

If the Structure you need already exists, locate it and specify your dates and enrollment when adding it to your Data Expected list. If you require changes to the Structure you need, select the indicator stating "No, it requires changes to meet research needs," and upload a file containing your requested changes.

If the structure you need is not yet defined in the Data Dictionary, you can select "Upload Definition" and attach the necessary materials to request its creation.

When selecting the expected dates for your data, make sure to follow the standard Data Sharing Regimen and choose dates within the date ranges that correspond to your project start and end dates.

Please visit the Completing Your Data Expected Tutorial for more information.
Data Expected List: Data Structures per Research Aims

These data structures are specific to your research aims and should list all data structures in which data will be collected and submitted for this NDA Collection. Please update the Targeted Enrollment number to accurately represent the number of subjects you expect to submit for the entire study.

Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Mullen Scales of Early Learning info icon
8001/15/2013
30
Approved
Ravens Coloured Progressive Matrices (CPM) info icon
68001/15/2009
10
Approved
Genomics/omics info icon
68001/15/2009
1,009
Approved
ABC Community info icon
42701/15/2011
218
Approved
ADOS info icon
14408/31/2012
306
Approved
Expressive One-Word Picture Vocabulary Test (2000) info icon
8001/15/2013
154
Approved
ADI-R info icon
68001/15/2009
230
Approved
Medical History info icon
68001/15/2009
201
Approved
Obsessive-Compulsive Inventory - Revised (OCI-R) info icon
8001/15/2013
48
Approved
Social Responsiveness Scale (SRS) info icon
68001/15/2009
239
Approved
Wechsler Abbreviated Scale of Intelligence (WASI) info icon
11001/15/2013
137
Approved
Genetic Test info icon
8001/15/2013
613
Approved
Social Communication Questionnaire (SCQ) info icon
68001/15/2009
297
Approved
Broad Autism Phenotype Questionnaire (BAPQ) info icon
13808/31/2012
318
Approved
Demographics info icon
35001/15/2013
263
Approved
Clinical Global Impression (CGI) info icon
4101/15/2013
41
Approved
Tanner Sexual Maturity Scale info icon
19501/15/2013
146
Approved
DAS-II: Differential Ability Scales info icon
25001/15/2013
231
Approved
Peabody Picture Vocabulary Test, Fourth Edition info icon
8001/15/2013
188
Approved
Wechsler Adult Intelligence Scale info icon
201/15/2013
2
Approved
Childhood Routines Inventory (CRI) info icon
35508/31/2012
144
Approved
Repetitive Behavior Scale - Revised (RBS-R) info icon
68001/15/2009
221
Approved
Preschool Language Scale (PLS) info icon
8001/15/2013
18
Approved
Physical Exam info icon
8001/15/2013
252
Approved
Clinical Evaluation of Language Fundamentals (CELF) info icon
40908/31/2012
89
Approved
Childrens Scale of Hostility and Aggression: Reactive/Proactive info icon
4801/15/2013
48
Approved
Vineland (Parent and Caregiver) info icon
68001/15/2009
220
Approved
Imaging (Structural, fMRI, DTI, PET, microscopy) info icon
68001/15/2009
58
Approved
AURORA Flash Survey Latent Construct Anxiety info icon
101/15/2013
2,543
Approved
Structure not yet defined
No Status history for this Data Expected has been recorded yet
helpcenter.collection.data-expected-tab

NDA Help Center

Collection - Data Expected

The Data Expected tab displays the list of all data that NDA expects to receive in association with the Collection as defined by the contributing researcher, as well as the dates for the expected initial upload of the data, and when it is first expected to be shared, or with the research community. Above the primary table of Data Expected, any publications determined to be relevant to the data within the Collection are also displayed - members of the contributing research group can use these to define NDA Studies, connecting those papers to underlying data in NDA.

The tab is used both as a reference for those accessing shared data, providing information on what is expected and when it will be shared, and as the primary tracking mechanism for contributing projects. It is used by both contributing primary researchers, secondary researchers, and NIH Program and Grants Management staff.

Researchers who are starting their project need to update their Data Expected list to include all the Data Structures they are collecting under their grant and set their initial submission and sharing schedule according to the NDA Data Sharing Regimen.

To add existing Data Structures from the Data Dictionary, to request new Data Structure that are not in the Dictionary, or to request changes to existing Data Structures, click "+New Data Expected".

For step-by-step instructions on how to add existing Data Structures, request changes to an existing Structure, or request a new Data Structure, please visit the Completing Your Data Expected Tutorial.

If you are a contributing researcher creating this list for the first time, or making changes to the list as your project progress, please note the following:

  • Although items you add to the list and changes you make are displayed, they are not committed to the system until you Save the entire page using the "Save" button at the bottom of your screen. Please Save after every change to ensure none of your work is lost.
  • If you attempt to add a new structure, the title you provide must be unique - if another structure exists with the same name your change will fail.
  • Adding a new structure to this list is the only way to request the creation of a new Data Dictionary definition.

Frequently Asked Questions

  • What is an NDA Data Structure?
    An NDA Data Structure is comprised of multiple Data Elements to make up an electronic definition of an assessment, measure, questionnaire, etc will have a corresponding Data Structure.
  • What is the NDA Data Dictionary?
    The NDA Data Dictionary is comprised of electronic definitions known as Data Structures.

Glossary

  • Analyzed Data
    Data specific to the primary aims of the research being conducted (e.g. outcome measures, other dependent variables, observations, laboratory results, analyzed images, volumetric data, etc.) including processed images.
  • Data Item
    Items listed on the Data Expected list in the Collection which may be an individual and discrete Data Structure, Data Structure Category, or Data Structure Group.
  • Data Structure
    A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
  • Data Structure Category
    An NDA term describing the affiliation of a Data Structure to a Category, which may be disease/disorder or diagnosis related (Depression, ADHD, Psychosis), specific to data type (MRI, eye tracking, omics), or type of data (physical exam, IQ).
  • Data Structure Group
    A Data Item listed on the Data Expected tab of a Collection that indicates a group of Data Structures (e.g., ADOS or SCID) for which data may be submitted instead of a specific Data Structure identified by version, module, edition, etc. For example, the ADOS Data Structure Category includes every ADOS Data Structure such as ADOS Module 1, ADOS Module 2, ADOS Module 1 - 2nd Edition, etc. The SCID Data Structure Group includes every SCID Data Structure such as SCID Mania, SCID V Mania, SCID PTSD, SCID-V Diagnosis, and more.
  • Evaluated Data
    A new Data Structure category, Evaluated Data is analyzed data resulting from the use of computational pipelines in the Cloud and can be uploaded directly back to a miNDAR database. Evaluated Data is expected to be listed as a Data Item in the Collection's Data Expected Tab.
  • Imaging Data
    Imaging+ is an NDA term which encompasses all imaging related data including, but not limited to, images (DTI, MRI, PET, Structural, Spectroscopy, etc.) as well as neurosignal data (EEG, fMRI, MEG, EGG, eye tracking, etc.) and Evaluated Data.
  • Initial Share Date
    Initial Submission and Initial Share dates should be populated according to the NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data will be shared with authorized users upon publication (via an NDA Study) or 1-2 years after the grant end date specified on the first Notice of Award, as defined in the applicable Data Sharing Terms and Conditions.
  • Initial Submission Date
    Initial Submission and Initial Share dates should be populated according to these NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data for all subjects is not expected on the Initial Submission Date and modifications may be made as necessary based on the project's conduct.
  • Research Subject and Pedigree
    An NDA created Data Structure used to convey basic information about the subject such as demographics, pedigree (links family GUIDs), diagnosis/phenotype, and sample location that are critical to allow for easier querying of shared data.
  • Submission Cycle
    The NDA has two Submission Cycles per year - January 15 and July 15.
  • Submission Exemption
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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
Examining the validity of the use of ratio IQs in psychological assessments IQ tests are amongst the most used psychological assessments, both in research and clinical settings. For participants who cannot complete IQ tests normed for their age, ratio IQ scores (RIQ) are routinely computed and used as a proxy of IQ, especially in large research databases to avoid missing data points. However, because it has never been scientifically validated, this practice is questionable. In the era of big data, it is important to examine the validity of this widely used practice. In this paper, we use the case of autism to examine the differences between standard full-scale IQ (FSIQ) and RIQ. Data was extracted from four databases in which ages, FSIQ scores and subtests raw scores were available for autistic participants between 2 and 17 years old. The IQ tests included were the MSEL (N=12033), DAS-II early years (N=1270), DAS-II school age (N=2848), WISC-IV (N=471) and WISC-V (N=129). RIQs were computed for each participant as well as the discrepancy (DSC) between RIQ and FSIQ. We performed two linear regressions to respectively assess the effect of FSIQ and of age on the DSC for each IQ test, followed by additional analyses comparing age subgroups as well as FSIQ subgroups on DSC. Participants at the extremes of the FSIQ distribution tended to have a greater DSC than participants with average FSIQ. Furthermore, age significantly predicted the DSC, with RIQ superior to FSIQ for younger participants while the opposite was found for older participants. These results question the validity of this widely used alternative scoring method, especially for individuals at the extremes of the normal distribution, with whom RIQs are most often employed.260/17423Secondary AnalysisShared
The importance of low IQ to early diagnosis of autismSome individuals can flexibly adapt to life’s changing demands while others, in particular those with Autism Spectrum Disorder (ASD), find it challenging. The origin of early individual differences in cognitive abilities, the putative tools with which to navigate novel information in life, including in infants later diagnosed with ASD remains unexplored. Moreover, the role of intelligence quotient (IQ) vis-à-vis core features of autism remains debated. We systematically investigate the contribution of early IQ in future autism outcomes in an extremely large, population-based study of 8,000 newborns, infants, and toddlers from the US between 2 and 68 months with over 15,000 cross-sectional and longitudinal assessments, and for whom autism outcomes are ascertained or ruled out by about 2-4 years. This population is representative of subjects involved in the National Institutes of Health (NIH)-funded research, mainly on atypical development, in the US. Analyses using predetermined age bins showed that IQ scores are consistently lower in ASD relative to TD at all ages (p<0.001), and IQ significantly correlates with calibrated severity scores (total CSS, as well as non-verbal and verbal CSS) on the ADOS. Note, VIQ is no better than the full-scale IQ to predict ASD cases. These findings raise new, compelling questions about potential atypical brain circuitry affecting performance in both verbal and nonverbal abilities and that precede an ASD diagnosis. This study is the first to establish prospectively that low early IQ is a major feature of ASD in early childhood. 21/6323Secondary AnalysisShared
Prognostic early snapshot stratification of autism based on adaptive functioningA major goal of precision medicine is to predict prognosis based on individualized information at the earliest possible points in development. Using early snapshots of adaptive functioning and unsupervised data- driven discovery methods, we uncover highly stable early autism subtypes that yield information relevant to later prognosis. Data from the National Institute of Mental Health Data Archive (NDA) (n = 1,098) was used to uncover three early subtypes (<72 months) that generalize with 96% accuracy. Outcome data from NDA (n = 2,561; mean age, 13 years) also reproducibly clusters into three subtypes with 99% generalization accuracy. Early snapshot subtypes predict developmental trajectories in non-verbal cognitive, language and motor domains and are predictive of membership in different adaptive functioning outcome subtypes. Robust and prognosis- relevant subtyping of autism based on early snapshots of adaptive functioning may aid future research work via prediction of these subtypes with our reproducible stratification model.178/3517Secondary AnalysisShared
Investigating autism etiology and heterogeneity by decision tree algorithmAutism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in cognition, communication and social skills. ASD, however, is a highly heterogeneous disorder. This heterogeneity has made identifying the etiology of ASD a particularly difficult challenge, as patients exhibit a wide spectrum of symptoms without any unifying genetic or environmental factors to account for the disorder. For better understanding of ASD, it is paramount to identify potential genetic and environmental risk factors that are comorbid with it. Identifying such factors is of great importance to determine potential causes for the disorder, and understand its heterogeneity. Existing large-scale datasets offer an opportunity for computer scientists to undertake this task by utilizing machine learning to reliably and efficiently obtain insight about potential ASD risk factors, which would in turn assist in guiding research in the field. In this study, decision tree algorithms were utilized to analyze related factors in datasets obtained from the National Database for Autism Research (NDAR) consisting of nearly 3000 individuals. We were able to identify 15 medical conditions that were highly associated with ASD diagnoses in patients; furthermore, we extended our analysis to the family medical history of patients and we report six potentially hereditary medical conditions associated with ASD. Associations reported had a 90% accuracy. Meanwhile, gender comparisons highlighted conditions that were unique to each gender and others that overlapped. Those findings were validated by the academic literature, thus opening the way for new directions for the use of decision tree algorithms to further understand the etiology of autism. 303/3382Secondary 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.295/2054Secondary AnalysisShared
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. 44/1832Secondary AnalysisShared
Imbalanced social-communicative and restricted repetitive behavior subtypes in autism spectrum disorder exhibit different neural circuitrySocial-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97–99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.159/1708Secondary 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.2/1428Secondary AnalysisShared
Automated Autism Diagnosis using Phenotypic and Genotypic Attributes: Phase IThe ultimate goal of this project is to develop a predictive system that can automate the diagnosis process for autism using phenotypic and genotypic attributes for classification. At this time, only a first phase is being pursued: starting with scores from Autism Diagnostic Observation Schedule (ADOS) reports, use data-mining techniques to select the smallest set of the most informative evaluation points that can lead to similar behavioral diagnoses as using all report features. The effort began in March, 2016 after data access to NDAR was granted. This report describes the results from that date through the end of December 2016.42/1045Secondary 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. 270/889Secondary AnalysisShared
Brain-based sex differences in autism spectrum disorder across the lifespan: A systematic review of structural MRI, fMRI, and DTI findingsFemales with autism spectrum disorder (ASD) have been long overlooked in neuroscience research, but emerging evidence suggests they show distinct phenotypic trajectories and age-related brain differences. Sex-related biological factors (e.g., hormones, genes) may play a role in ASD etiology and have been shown to influence neurodevelopmental trajectories. Thus, a lifespan approach is warranted to understand brain-based sex differences in ASD. This systematic review on MRI-based sex differences in ASD was conducted to elucidate variations across the lifespan and inform biomarker discovery of ASD in females. We identified articles through two database searches. Fifty studies met criteria and underwent integrative review. We found that regions expressing replicable sex-by-diagnosis differences across studies overlapped with regions showing sex differences in neurotypical (NT) cohorts, in particular regions showing NT male>female volumes. Furthermore, studies investigating age-related brain differences across a broad age-span suggest distinct neurodevelopmental patterns in females with ASD. Qualitative comparison across youth and adult studies also supported this hypothesis. However, many studies collapsed across age, which may mask differences. Furthermore, accumulating evidence supports the female protective effect in ASD, although only one study examined brain circuits implicated in “protection.” When synthesized with the broader literature, brain-based sex differences in ASD may come from various sources, including genetic and endocrine processes involved in brain “masculinization” and “feminization” across early development, puberty, and other lifespan windows of hormonal transition. Furthermore, sex-related biology may interact with peripheral processes, in particular the stress axis and brain arousal system, to produce distinct neurodevelopmental patterns in males and females with ASD. Future research on neuroimaging-based sex differences in ASD would benefit from a lifespan approach in well-controlled and multivariate studies. Possible relationships between behavior, sex hormones, and brain development in ASD remain largely unexamined.40/759Secondary 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.2/740Secondary 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.324/589Secondary 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. 528/565Primary AnalysisShared
ASD and genetic associations with receptors for oxytocin and vasopressin – AVPR1A, AVPR1B, and OXTRBackground: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as, ASD-related phenotypes. Researchers have also found the manipulation of these systems affect social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken. In this study, we examined associations between variants in the receptor genes of vasopressin (AVPR1A, AVPR1B), oxytocin (OXTR) and ASD diagnosis along with related subphenotypes. Methods: Probands were assessed using Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and clinical DSM-IV-TR criteria. Single nucleotide polymorphisms (SNPs) in AVPR1B and OXTR, and microsatellites in AVPR1A were genotyped in ~200 families with a proband with ASD. Family-based association testing (FBAT) was utilized to determine associations between variants and ASD. Haplotypes composed of OXTR SNPs (i.e. rs53576-rs2254298-rs2268493) were also analyzed due to previously published associations. Results: Using the additive inheritance model in FBAT we found associations between AVPR1B SNPs (rs28632197, p=0.005, rs35369693, p=0.025) and diagnosis. As in other studies, OXTR rs2268493 (p=0.050) was associated with diagnosis. rs2268493 was also associated with ASD subphenotypes of social withdrawal (p=0.013) and insistence on sameness (p=0.039). Further analyses demonstrated that the haplotype, rs2254298-rs2268493 was found to be significantly associated with diagnosis (A-T; p=0.026). FBAT was also used to analyze AVPR1A microsatellites (RS1 and RS3). Both length variants were found to be associated with restrictive, repetitive behaviors, but not overall diagnosis. Correction for multiple comparisons was performed for SNPs tested in each gene region, only AVPR1B SNPs remained significantly associated with ASD diagnosis. Conclusions: Autism is a heterogeneous disorder with many genes and pathways that contribute to its development. SNPs and microsatellites in the receptor genes of OT and AVP are associated with ASD diagnosis and measures of social behavior as well as restricted repetitive behaviors. We reported a novel association with ASD and AVPR1B SNPs. Understanding of genotype-phenotype relationships may be helpful in the development of pharmacological interventions for the OT/AVP system. 490/490Primary AnalysisShared
Face-processing performance is an independent predictor of social affect as measured by the Autism Diagnostic Observation Schedule across large-scale datasetsFace-processing deficits, while not required for the diagnosis of Autism Spectrum Disorder (ASD), have been associated with impaired social skills—a core feature of ASD; however, the strength and prevalence of this relationship remains unclear. Across 445 participants from the NIMH Data Archive, we examined the relationship between Benton Face Recognition Test (BFRT) performance and Autism Diagnostic Observation Schedule-Social Affect (ADOS-SA) scores. Lower BFRT scores (worse face-processing performance) were associated with higher ADOS-SA scores (higher ASD severity)–a relationship that held after controlling for other factors associated with face processing, i.e., age, sex, and IQ. These findings underscore the utility of face discrimination, not just recognition of facial emotion, as a key covariate for the severity of symptoms that characterize ASD.1/445Secondary 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. 340/348Primary 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
Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum DisorderElevated whole blood serotonin (WB5-HT) is a well-replicated biomarker in autism spectrum disorder (ASD). Decreased platelet serotonin receptor 5-HT2A binding has been reported in ASD. WB5-HT levels and platelet 5-HT2A specific binding were obtained from 110 individuals with ASD and 18 controls. Individuals with ASD had significantly higher WB5-HT levels than controls. There was no difference in the platelet 5-HT2A specific binding between groups. Multiple regression analyses revealed that platelet 5-HT2A binding significantly predicted WB5-HT in the control sample but not in the ASD sample. These results indicate that the relationship between WB5-HT and platelet 5-HT2A binding differs depending on ASD diagnosis, suggesting differences in platelet 5-HT system regulation in ASD.128/128Secondary AnalysisShared
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case studyNuclear receptor group 2 family 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, visual processing and development, and cortical patterning. Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy. This study describes the clinical and neurocognitive features of an individual with a de novo nonsense variant in NR2F1 (NM_005654.5:c.82C>T, p.Gln28*), identified by whole exome sequencing. The patient was diagnosed with autism spectrum disorder (ASD) and unlike most previously reported cases, he had no developmental delay, superior verbal abilities (verbal IQ = 141), and high educational attainment despite reduced nonverbal abilities (nonverbal IQ = 63). He had optic nerve hypoplasia without visual impairment as well as mild dysmorphic features. Compared to both age-matched individuals with ASD and healthy controls, the patient showed reductions in manual motor speed, accuracy of saccadic eye movements, and rates of successful behavioral response inhibition. Although the majority of previously reported cases of BBSOAS have been associated with more global intellectual dysfunction, we report on a patient with selective disruption of nonverbal abilities and superior verbal abilities.12/12Primary AnalysisShared
* Data not on individual level
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