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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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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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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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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Cincinnati MR Imaging of Neurodevelopment (C-MIND)
Scott Holland and Jennifer Vannest 
The Pediatric Functional Neuroimaging Research Network is a joint venture led by the Pediatric Neuroimaging Research Consortium at CCHMC in collaboration with the Laboratory of Neuroimaging (LONI), at University of Southern California, the Brain Mapping Center at UCLA, the Children's Hospital of Pittsburgh, and University of Michigan. The Pediatric Functional Neuroimaging Research Network was supported by a contract with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and charged with creating standardized methods for recruiting, scanning, and processing brain imaging data from children from birth through adolescence. This data set includes T1-W and T2-W 3D anatomical, BOLD-fMRI, DTI, and ASL imaging data across this age span, as well as a novel concurrent ASL/BOLD fMRI data set that allows exploration of new relationships between brain stimulation and BOLD response. In addition to developing these methods, a purpose of this neuroimaging research contract with NICHD was to investigate brain development in children from infancy through adolescence. The data can be used to investigate developmental changes in white matter structure, gray matter structure, structural and functional connectivity, perfusion, neurovascular coupling and correlations between behavioral measures and brain developing. C-MIND allows exploration of developmental changes in brain anatomy, structural and functional connectivity, neurovascular coupling/reactivity and the interaction of brain development and cognitive changes during childhood. The C-MIND database includes imaging and behavioral data from over 200 typically developing children for a cross-sectional look at the differences in brain function throughout the age range. Additionally, C-MIND contains longitudinal imaging and behavioral data on 40 infants and toddlers (ages 0-3 years) as well as 30 children between the ages of 7-9 years.
NIMH Data Archive
11/25/2015
Funding Completed
Close Out
No
211
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NIH - Contract None

https://research.cchmc.org/c-mind-db/py-doc/html/index.html Software C-MIND Image Processing Pipelines General Public
https://research.cchmc.org/c-mind/manual-project-overview Background C-MIND User Manual General Public



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
410ASLBOLD Sentence-Picture Matching Task12/14/2015ApprovedfMRI
411ASLBOLD Stories Task12/14/2015ApprovedfMRI
447ASLBOLD Resting State03/30/2016ApprovedfMRI
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.
BRIEF-Self Clinical Assessments 147
Bayley-III Scales of Infant Development Clinical Assessments 30
Beery VMI Clinical Assessments 182
Child Behavior Checklist (CBCL) 6-18 Clinical Assessments 188
Clinical Trials: Inclusion/Exclusion Criteria Clinical Assessments 210
Conners Continuous Performance Test Clinical Assessments 210
Controlled Oral Word Association Test Clinical Assessments 7
Expressive Vocabulary Test Clinical Assessments 184
Family Mental history Clinical Assessments 210
Image Imaging 211
MIND Demographics Clinical Assessments 210
Medical History Clinical Assessments 210
NEPSY Verbal Fluency Clinical Assessments 142
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 184
Purdue Pegboard Clinical Assessments 161
StimQ Cognitive Home Environment Clinical Assessments 23
Tanner Sexual Maturity Scale Clinical Assessments 73
Test of Silent Reading Efficiency and Comprehension (TOSREC) Clinical Assessments 21
Test of Word Reading Efficiency (TOWRE) Clinical Assessments 22
Wechsler Adult Intelligence Scale Fourth Edition [part 1] Clinical Assessments 185
Wechsler Intelligence Scale for Children - IV [part 2] Clinical Assessments 162
Wechsler Intelligence Scale for Children III Clinical Assessments 30
Wechsler Preschool and Primary Scale of Intelligence IV Edition Clinical Assessments 185
Wide Range Assessment of Memory and Learning Clinical Assessments 153
Woodcock Johnson Tests of Cognitive Abilities and Tests of Achievement Clinical Assessments 31
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
25533780Create StudyRelationship between receptive vocabulary and the neural substrates for story processing in preschoolers.Brain imaging and behaviorSroka MC, Vannest J, Maloney TC, Horowitz-Kraus T, Byars AW, Holland SKMarch 2015Not Determined
25515348Create StudyRight is not always wrong: DTI and fMRI evidence for the reliance of reading comprehension on language-comprehension networks in the right hemisphere.Brain imaging and behaviorHorowitz-Kraus T, Grainger M, DiFrancesco M, Vannest J, Holland SKMarch 2015Not Determined
25403715Create StudyUnanticipated findings in pediatric neuroimaging research: prevalence of abnormalities and process for reporting and clinical follow-up.Brain imaging and behaviorKaiser D, Leach J, Vannest J, Schapiro M, Holland SMarch 2015Not Determined
25144603Create StudyFactors determining success of awake and asleep magnetic resonance imaging scans in nonsedated children.NeuropediatricsVannest J, Rajagopal A, Cicchino ND, Franks-Henry J, Simpson SM, Lee G, Altaye M, Sroka C, Holland SKDecember 2014Not Determined
25137219Create StudyEvidence that neurovascular coupling underlying the BOLD effect increases with age during childhood.Human brain mappingSchmithorst VJ, Vannest J, Lee G, Hernandez-Garcia L, Plante E, Rajagopal A, Holland SKJanuary 2015Not 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.

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

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.162/17423Secondary AnalysisShared
Clinical significance of diffusion tensor imaging in metachromatic leukodystrophyBackground Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain magnetic resonance imaging (MRI) can detect affected white matter as T2 hyperintense areas but cannot quantify the gradual microstructural process of demyelination more accurately. Our study aimed to investigate the value of routine MR diffusion tensor imaging in assessing disease progression. Methods MR diffusion parameters (apparent diffusion coefficient [ADC] and fractional anisotropy [FA]) were in the frontal white matter, central region (CR), and posterior limb of the internal capsule in 111 MR datasets from a natural history study of 83 patients (age: 0.5–39.9 years; 35 late-infantile, 45 juvenile, 3 adult, with clinical diffusion sequences of different scanner manufacturers) as well as 120 controls. Results were correlated with clinical parameters reflecting motor and cognitive function. Results ADC values increase and FA values decrease depending on disease stage/severity. They show region-specific correlations with clinical parameters of motor and cognitive symptoms, respectively. Higher ADC levels in CR at diagnosis predicted a disease course with more rapid motor deterioration in juvenile MLD patients. In highly organized tissues such as the corticospinal tract, in particular, diffusion MR parameters were highly sensitive to MLD-associated changes and did not correlate with the visual quantification of T2 hyperintensities. Conclusion Our results show that diffusion MRI can deliver valuable, robust, clinically meaningful, and easily obtainable/accessible/available parameters in the assessment of prognosis and progression of MLD. Therefore, it provides additional quantifiable information to established methods such as T2 hyperintensity.210/211Secondary AnalysisShared
The effect of intrathecal recombinant arylsulfatase A therapy on structural brain MRI in children with metachromatic leukodystrophyIntroduction: Metachromatic leukodystrophy (MLD) is a rare neurometabolic disorder caused by deficient activity of arylsulfatase A (ASA), resulting in sulfatide accumulation, demyelination and rapid neurological deterioration. A phase 1/2 study (NCT01510028) recently assessed the safety of intrathecal (IT) recombinant human ASA (SHP611; rhASA) in the late-infantile (LI) form of MLD. This analysis investigated the effect of IT rhASA on brain tissue changes in patients with LI-MLD using MRI volumetric and diffusion parameters. Methods: 170 MRIs of 24 patients with LI-MLD treated with IT rhASA were compared with 56 MRIs of 12 patients with LI-MLD treated with intravenous (IV) rhASA, 43 MRIs of 33 untreated patients with LI-MLD and 238 MRIs of 156 healthy controls (C-MIND database: https://nda.nih.gov/edit_collection.html?id=2329). Automated segmentation of gray matter (GM) and white matter (WM) volumes was performed using T1- and T2-weighted sequences. Fractional anisotropy (FA) was calculated from diffusion tensor imaging in the frontal WM and part of the pyramidal tract. Results: GM volume, brain volume and FA in all regions were decreased in patients with LI-MLD vs age-matched healthy controls. The most pronounced effects were visible for total brain and GM volume, and FA in the pyramidal tract, with greater decreases in the untreated and IV rhASA compared with the IT rhASA group (p<0.05). Patients who were clinical responders to IT rhASA had significantly improved MRI parameters compared with non-responders. Conclusion: GM volume and microstructural changes in the pyramidal tract deteriorated over the clinical course in patients with LI-MLD. IT rhASA treatment had a positive effect on tissue changes. These MRI parameters correlated with clinical response to IT rhASA treatment.211/211Secondary AnalysisShared
Age attenuates noise and increases symmetry of head movements during sleep resting-state fMRI in healthy neonates, infants, and toddlersNewborns produce spontaneous movements during sleep that are functionally important for their future development. This nuance has been previously studied using animal models and more recently using movement data from sleep resting-state fMRI (rs-fMRI) scans. Age-related trajectory of statistical features of spontaneous movements of the head is under-examined. This study quantitatively mapped a developmental trajectory of spontaneous head movements during an rs-fMRI scan acquired during natural sleep in 91 datasets from healthy children from ~birth to 3 years old, using the Open Science Infancy Research upcycling protocol. The youngest participants studied, 2-3 week-old neonates, showed increased noise-to-signal levels as well as lower symmetry features of their movements; noise-tosignal levels were attenuated and symmetry was increased in the older infants and toddlers (all Spearman’s rank-order correlations, P< 0.05). Thus, statistical features of spontaneous head movements become more symmetrical and less noisy from birth to ~3 years in children. Because spontaneous movements during sleep in early life may trigger new neuronal activity in the cortex, the key outstanding question for in-vivo, non-invasive neuroimaging studies in young children is not “How can we correct head movement better?” but rather: How can we represent all important sources of neuronal activity that shape functional connections in the still-developing human central nervous system?35/86Secondary AnalysisShared
Resting-state fMRI effective connectivity of deep grey motor networks in children with developmental movement disordersINTRODUCTION/HYPOTHESIS/SCIENTIFIC PREMISE Developmental movement disorders, such as dystonic cerebral palsy (CP-D), can dramatically influence quality of life and functioning and are often refractory to treatment. Pediatric movement disorders are increasingly conceptualized as brain network disorders- particularly dysfunction involving basal ganglia networks – which may be targeted for treatment. However, little is known about the nature of cortical and subcortical motor network disturbances involved, nor the causal relationships expected within these networks in typically developing children. This contributes to the difficulty in treating CP-D. In this study, we use resting state fMRI (RS) to develop a preliminary model of normal effective connectivity within pediatric basal ganglia motor networks and compare the normal model to models of children with developmental movement disorders. METHODS/APPROACH We used the (RS) scans from 19 participants of the Cincinnati MR Imaging of NeuroDevelopment (C-MIND) database to build a normal pediatric model. Data were pre-processed using a standard pipeline in Statistical Parametric Mapping (SPM12). The CAT12 toolbox in SPM was used to draw the following regions of interest in each hemisphere: primary motor cortex (M1), thalamus, sub-thalamic nucleus (STN), striatum, globus pallidus internus (GPi), and contralateral cerebellum. Dynamic causal modelling (DCM) in SPM was then used to create a directional model between these regions for each hemisphere. These models were then averaged across the normal group, resulting in two models (left, right). Patient data were collected as a part of clinical treatment at Phoenix Children's Hospital and their DCM models were individually compared to the averaged normal DCM models for each hemisphere. RESULTS The averaged normal DCM models were largely symmetrical between hemispheres, though causal connections were more pronounced in the left hemisphere model. All modulatory signals toward the STN were inhibitory. Modulations from the cerebellum were inhibitory toward all other regions. In the right hemisphere, GPi was inhibitory toward M1 and cerebellum, but in the left it was inhibitory toward thalamus. The GPi is thought to be crucial in inhibiting unwanted movement and is the primary target of interventions such as deep brain stimulation in CP-D. CONCLUSIONS/DISCUSSION The preliminary DCM for normal basal ganglia motor networks in children are consistent with anatomically known and functionally hypothesized relationships in adults. In particular, there was overall inhibition toward bilateral STN. Additionally, GPi had an inhibitory effect on regions that initiate movement, however, the specific regions differed between hemisphere. 19/19Secondary AnalysisShared
* Data not on individual level
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