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NDAR provides a single access to de-identified autism research data. For permission to download data, you will need an NDAR account with approved access to NDAR or a connected repository (AGRE, IAN, or the ATP). For NDAR access, you need to be a research investigator sponsored by an NIH recognized institution with federal wide assurance. See Request Access for more information.

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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Early Biomarkers of Autism Spectrum Disorders in infants with Tuberous Sclerosis
Mustafa Sahin 
Autism Spectrum Disorders (ASD) has complex and varying etiologies. A lack of understanding regarding the underlying molecular and cellular mechanisms is a key barrier in finding effective treatments. Single-gene disorders that have a high prevalence of ASD provide unique opportunities to investigate the underlying biology and test treatments for autism. Tuberous Sclerosis Complex (TSC) is a genetic disorder in which approximately 50% of individuals are also affected with ASD. Importantly, TSC can be diagnosed before or at the time of birth, and thus infants with TSC allow us to observe prospectively the natural history of ASD and develop better tools for early detection of autism. On a molecular level, TSC disease manifestations result from the aberrant hyperactivity of mTOR that is caused by mutation in one of two TSC genes. Pharmacologic mTOR inhibition to correct the cellular defects in TSC is no longer a hope for the future, but rather an exciting reality with proven efficacy against various TSC disease manifestations. To determine the potential benefit these agents may have in treating or preventing ASD, it is imperative to identify early markers of autism in infants with TSC, so as to not put young children who will not develop ASD at unnecessary risk. Accumulating clinical and basic science evidence suggests that aberrant white matter connectivity represents a rational candidate as a biomarker in TSC. TSC mouse models demonstrate defects in the specification, guidance, and myelination of axons. More importantly, several groups have reported abnormalities in the normal-appearing white matter of TSC patients that can be identified by MR imaging, and loss of white matter microstructural integrity is associated with neurological and cognitive deficits. Furthermore, there is preliminary data indicating that white matter integrity can be improved by treatment with mTOR inhibitors in both animal models and in TSC patients. Taken together, these findings lead to the hypothesis that longitudinal assessment of white matter integrity and neural connectivity in TSC infants, through advanced MRI and EEG analysis, can be used as an early biomarker of subsequent ASD in this genetic disease. This proposal aims to establish a consortium of five Children's Hospitals that are geographically-distributed throughout the US to recruit TSC patients in the first year of life to test this hypothesis. State of the art imaging with 3 Tesla MRI scanners, advanced EEG technology, validated neurodevelopmental assessment tools, genetic analysis, and standardized clinical measures through age 36 months will be utilized. The clinical consortium will be supported by a centralized Data Coordinating Center with experience in another rare disease (neurofibromatosis). Collaboration with Leadership Education in Neurodevelopmental and Related Disabilities (LEND) programs at each center will provide additional interdisciplinary research training and education expertise in ASD and TSC. As a result of the research outlined in this proposal, better understanding of brain connectivity and its relationship to ASD in TSC will pave the way for new interventions for this and related causes of autism.
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NIH - Extramural None

U01NS082320-01 Early Biomarkers of Autism Spectrum Disorders in infants with Tuberous Sclerosis 09/01/2012 08/31/2017 330 146 BOSTON CHILDRENS HOSPITAL $12,349,935.00

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

IDNameCreated DateStatusType
117Boston EEGs01/09/2014ApprovedEEG
118Houston EEGs01/09/2014ApprovedEEG
112UCLA-Cincinnati EEG11/18/2013ApprovedEEG
120Cincinnati EEGs01/13/2014ApprovedEEG

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

Shared Data

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

ACE Family Medical History Clinical Assessments 157
ACE Subject Medical History Clinical Assessments 157
ACE Subject Physical Exam Clinical Assessments 157
Child Behavior Checklist (CBCL) 1-5 Clinical Assessments 108
Classification of Seizures Clinical Assessments 158
Demographics Clinical Assessments 163
Early Social Communication Scale (ESCS) Clinical Assessments 96
Image Imaging 116
Interval Medical History Clinical Assessments 146
Mullen Scales of Early Learning Clinical Assessments 157
Preschool Language Scales Fifth edition (PLS-5) Clinical Assessments 157
Research Subject Clinical Assessments 163
Summary of Seizure Diary counts Clinical Assessments 143
Vineland-II - Survey Form (2005) Clinical Assessments 149

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


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

PubMed IDStudyTitleJournalAuthorsDateStatus
28649286Create StudyAutism spectrum disorder and epileptic encephalopathy: common causes, many questions.Journal of neurodevelopmental disordersSrivastava S, Sahin MJanuary 2017Not Determined
28643795Create StudyThe genomic landscape of tuberous sclerosis complex.Nature communicationsMartin KR, Zhou W, Bowman MJ, Shih J, Au KS, Dittenhafer-Reed KE, Sisson KA, Koeman J, Weisenberger DJ, Cottingham SL, Deroos ST, Devinsky O, Winn ME, Cherniack AD, Shen H, Northrup H, Krueger DA, Mackeigan JPJune 2017Not Determined
28457992Create StudyInfluence of seizures on early development in tuberous sclerosis complex.Epilepsy & behavior : E&BCapal JK, Bernardino-Cuesta B, Horn PS, Murray D, Byars AW, Bing NM, Kent B, Pearson DA, Sahin M, Krueger DA, April 2017Not Determined
28127590Create StudyMotion-Robust Reconstruction based on Simultaneous Multi-Slice Registration for Diffusion-Weighted MRI of Moving Subjects.Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted InterventionMarami B, Scherrer B, Afacan O, Warfield SK, Gholipour AOctober 2016Not Determined
27834639Create StudyMotion-Robust Diffusion-Weighted Brain MRI Reconstruction Through Slice-Level Registration-Based Motion Tracking.IEEE transactions on medical imagingMarami B, Scherrer B, Afacan O, Erem B, Warfield SK, Gholipour AOctober 2016Not Determined
27647682Create StudyActive delineation of Meyer's loop using oriented priors through MAGNEtic tractography (MAGNET).Human brain mappingChamberland M, Scherrer B, Prabhu SP, Madsen J, Fortin D, Whittingstall K, Descoteaux M, Warfield SKJanuary 2017Relevant
27267556Create StudyAdvances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.Pediatric neurologySahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA, July 2016Not Relevant
27199644Create StudyEditorial: Essential Pathways and Circuits of Autism Pathogenesis.Frontiers in neuroscienceDölen G, Sahin MJanuary 2016Not Relevant
26715604Create StudyCongenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Brain : a journal of neurologyEbrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin MFebruary 2016Not Relevant
26632048Create StudySuper-resolution reconstruction in frequency, image, and wavelet domains to reduce through-plane partial voluming in MRI.Medical physicsGholipour A, Afacan O, Aganj I, Scherrer B, Prabhu SP, Sahin M, Warfield SKDecember 2015Not Determined
26529580Create StudyImproved fidelity of brain microstructure mapping from single-shell diffusion MRI.Medical image analysisTaquet M, Scherrer B, Boumal N, Peters JM, Macq B, Warfield SKDecember 2015Not Determined
26498039Create StudyClinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants.Pediatric neurologyWu JY, Peters JM, Goyal M, Krueger D, Sahin M, Northrup H, Au KS, Cutter G, Bebin EMJanuary 2016Not Determined
26472761Create StudyGenes, circuits, and precision therapies for autism and related neurodevelopmental disorders.Science (New York, N.Y.)Sahin M, Sur MNovember 20, 2015Not Determined
26432846Create StudyTubers are neither static nor discrete: Evidence from serial diffusion tensor imaging.NeurologyPeters JM, Prohl AK, Tomas-Fernandez XK, Taquet M, Scherrer B, Prabhu SP, Lidov HG, Singh JM, Jansen FE, Braun KP, Sahin M, Warfield SK, Stamm ANovember 3, 2015Not Determined
26362832Create StudyCharacterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND).Magnetic resonance in medicineScherrer B, Schwartzman A, Taquet M, Sahin M, Prabhu SP, Warfield SKSeptember 12, 2015Not Determined
26303409Create StudyCerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex.Journal of child neurologySundberg M, Sahin MDecember 2015Not Relevant
26167096Create StudyAccelerated High Spatial Resolution Diffusion-Weighted Imaging.Information processing in medical imaging : proceedings of the ... conferenceScherrer B, Afacan O, Taquet M, Prabhu SP, Gholipour A, Warfield SK2015Not Determined
26022167Create StudyTuberous sclerosis complex.Pediatric clinics of North AmericaDiMario FJ, Sahin M, Ebrahimi-Fakhari DJune 2015Not Relevant
25986747Create StudyTuberous Sclerosis: A New Frontier in Targeted Treatment of Autism.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsDavis PE, Peters JM, Krueger DA, Sahin MJuly 2015Not Determined
25862116Create StudyMelatonin improves sleep in children with epilepsy: a randomized, double-blind, crossover study.Sleep medicineJain SV, Horn PS, Simakajornboon N, Beebe DW, Holland K, Byars AW, Glauser TAMay 2015Not Determined
25817702Create StudyLongitudinal changes in diffusion properties in white matter pathways of children with tuberous sclerosis complex.Pediatric neurologyBaumer FM, Song JW, Mitchell PD, Pienaar R, Sahin M, Grant PE, Takahashi EJune 2015Not Determined
25750257Create StudyAltered Structural Brain Networks in Tuberous Sclerosis Complex.Cerebral cortex (New York, N.Y. : 1991)Im K, Ahtam B, Haehn D, Peters JM, Warfield SK, Sahin M, Ellen Grant PMay 2016Not Determined
25695134Create StudyAutism and the synapse: emerging mechanisms and mechanism-based therapies.Current opinion in neurologyEbrahimi-Fakhari D, Sahin MApril 2015Not Relevant
25532776Create StudyTuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist.Pediatric neurologyde Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, Hook D, King BH, Sahin M, Jansen AJanuary 2015Not Determined
25385396Create StudyHypsarrhythmia assessment exhibits poor interrater reliability: a threat to clinical trial validity.EpilepsiaHussain SA, Kwong G, Millichap JJ, Mytinger JR, Ryan N, Matsumoto JH, Wu JY, Lerner JT, Sankar RJanuary 2015Not Determined
25374355Create StudyThe neurology of mTOR.NeuronLipton JO, Sahin MOctober 22, 2014Not Determined
24830765Create StudyClobazam: effect on frequency of seizures and safety profile in different subgroups of children with epilepsy.Pediatric neurologyKlehm J, Thome-Souza S, Sánchez Fernández I, Bergin AM, Bolton J, Harini C, Kadish NE, Libenson M, Peters J, Poduri A, Rotenberg A, Takeoka M, Bourgeois B, Loddenkemper TJuly 2014Not Determined
24684014Create StudyReliable selection of the number of fascicles in diffusion images by estimation of the generalization error.Information processing in medical imaging : proceedings of the ... conferenceScherrer B, Taquet M, Warfield SK2013Not Determined
24505801Create StudyCharacterizing the distribution of anisotropic micro-structural environments with diffusion-weighted imaging (DIAMOND).Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted InterventionScherrer B, Schwartzman A, Taquet M, Prabhu SP, Sahin M, Akhondi-Asl A, Warfield SK2013Not Determined
24505728Create StudyEstimation of a multi-fascicle model from single B-value data with a population-informed prior.Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted InterventionTaquet M, Scherrer B, Boumal N, Macq B, Warfield SK2013Not Determined
24489482Create StudyDiffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions.Future neurologyPeters JM, Taquet M, Prohl AK, Scherrer B, van Eeghen AM, Prabhu SP, Sahin M, Warfield SKSeptember 2013Not Determined
24486221Create StudyMechanism-based treatment in tuberous sclerosis complex.Pediatric neurologyJülich K, Sahin MApril 2014Not Determined
24372698Create StudyInsult to injury: transient encephalopathy in a brain-injured adolescent.Journal of paediatrics and child healthPeters JM, Fernández ISMay 2014Not Determined
24235301Create StudyA mathematical framework for the registration and analysis of multi-fascicle models for population studies of the brain microstructure.IEEE transactions on medical imagingTaquet M, Scherrer B, Commowick O, Peters JM, Sahin M, Macq B, Warfield SKFebruary 2014Not Determined
23953953Create StudyLong-term response to high-dose diazepam treatment in continuous spikes and waves during sleep.Pediatric neurologySánchez Fernández I, Peters JM, An S, Bergin AM, Takeoka M, Rotenberg A, Kothare SV, Riviello JJ, Loddenkemper TSeptember 2013Not Determined
23859506Create Study[The brain functional network of children with autism: redundancy and disconnection].Médecine sciences : M/STaquet M, Peters JM2013 Jun-JulNot Determined
23852707Create StudyManagement of CNS-related Disease Manifestations in Patients With Tuberous Sclerosis Complex.Current treatment options in neurologyKrueger DAOctober 2013Not Determined
23744673Create StudySimultaneous truth and performance level estimation through fusion of probabilistic segmentations.IEEE transactions on medical imagingAkhondi-Asl A, Warfield SKOctober 2013Not Determined
23445896Create StudyBrain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity.BMC medicinePeters JM, Taquet M, Vega C, Jeste SS, Fernández IS, Tan J, Nelson CA, Sahin M, Warfield SK2013Not Determined
23291250Create StudyAutomated quantification of spikes.Epilepsy & behavior : E&BChavakula V, Sánchez Fernández I, Peters JM, Popli G, Bosl W, Rakhade S, Rotenberg A, Loddenkemper TFebruary 2013Not Determined

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
27647682Create StudyActive delineation of Meyer's loop using oriented priors through MAGNEtic tractography (MAGNET).Human brain mappingChamberland M, Scherrer B, Prabhu SP, Madsen J, Fortin D, Whittingstall K, Descoteaux M, Warfield SKJanuary 2017
Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Mullen Scales of Early Learning info iconApproved
Vineland (Parent and Caregiver) info iconApproved
genomics/omics info iconApproved
Imaging (Structural, fMRI, DTI, PET, microscopy) info iconApproved
Physical Exam info iconApproved
Demographics info iconApproved
Classification of Seizures info iconApproved
Preschool Language Scale (PLS) info iconApproved
Medical History info iconApproved
Summary of Seizure Diary counts info iconApproved
Child Behavior Checklist (CBCL) info iconApproved
Early Social Communication Scales (ESCS) info iconApproved
Research Subject and Pedigree info iconApproved
ADI-R info iconApproved
ADOS info iconApproved
EEG info iconApproved
Structure not yet defined

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 Name Description Number of Subjects
Collection / Total
Data Use State
Derivation of Quality Measures for Structural Images by Neuroimaging Pipelines Using the National Database for Autism Research cloud platform, MRI data were analyzed using neuroimaging pipelines that included packages available as part of the Neuroimaging Informatics Tools and Resources Clearinghouse (NITRC) Computational Environment to derive standardized measures of MR image quality. Structural QA was performed according to Haselgrove, et al (http://journal.frontiersin.org/Journal/10.3389/fninf.2014.00052/abstract) to provide values for Signal to Noise (SNR) and Contrast to Noise (CNR) Ratios that can be compared between subjects within NDAR and between other public data releases. 6 / 425 Secondary Analysis Shared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using C-PAC pipeline and ANTs An 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. 6 / 1540 Secondary Analysis Shared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using NITRC-CE A draft publication is in progress. GitHub repository with code for working with NDAR Data is available here: https://github.com/chaselgrove/ndar **Note this study is ongoing; additional may be added.** 6 / 356 Secondary Analysis Shared
* Data not on individual level