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Autism
Autism 14.4
The Autism (AU) Distribution v14.4 was published on 2024-08-13. AU Distribution v14.4 includes 29250 subjects, 25141 of whom have at least one biosample on record at the biorepository. In addition to case/control studies, the Autism collection includes 33 family studies, one or more of which includes families that are large and/or multigenerational.
Standard Data & Documentation
Download All- Distribution Bundle [text or excel]: Standard files across disorders, containing demographic, diagnostic, and pedigree information. Sampled (formerly IBX) sample IDs (nrgr_bio_id) and consent level are also provided. Bundle includes data dictionaries.
- Study Descriptions.
- Change Notes.
- Pedigree Drawings.
Additional Data Files
Clinical Instruments
Other
- Study 39, 63 & 69 Phenotypic Data Includes ABC, ADI, ADOS, BAP-Q, CELF, CHARGE, CTOPP, MULLEN, PPVT, NEO, SRS, Vineland, WRAT, among other instruments.
Genetic Data
Full Genome Genotyping
- AU Dataset 3 Family-based GWAS Data on 1,264 Non-AGRE Samples from NIMH Studies 4, 14, and 21. PLINK files from Affymetrix 5.0 and 500k platform available for download. Raw .CEL files are available for all samples genotyped, but must be shipped due to the large size of the files. To request shipment, please contact help@nrgr.on.spiceworks.com and reference your active access approval ID.
Clinical Instruments
Other
- Phenotypic Data from sites 60, 61, & 89. Site 61 data is the most comprehensive, but all files include race, ethnicity, and diagnosis. Site 61 file also includes education, occupation, and diagnosis information across multiple instruments.
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
Genetic Data
Targeted Genotyping
- AU Dataset 2 2 EN2 SNPs on chr 7
Clinical Instruments
Other
- Phenotypic Data Includes race, diagosis, IQ, and medical condition data.
Genetic Data
Full Genome Genotyping
- AU Dataset 1 Full Genome Screen, 48 markers on chr 1-23. 485 subjects.
Clinical Instruments
Other
- Phenotypic Data Sites 72 & 74. Includes race, ethnicity, sex, zygosity, and ADIR, ADOS, and clinical diagnoses.
- Language Questionnaire Sites 72 & 74. For updated data and additional subjects, see combined AGRE data for studies 21, 64, & 65.
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
Clinical Instruments
Other
- Phenotypic Data One summary file for the following measures: ADOS, Conner's Rating Scale, Expressive Vocabulary, Leiter International Performance Scale, Oral and Written Language Scale, Preschool Language Scale, Repetitive Behavior scale, Vineland, WASI
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
Genetic Data
Full Genome Genotyping
- AU Dataset 5 CEL and CNV files for 2 nuclear families, n=9 subjects
Clinical Instruments
Other
Clinical Instruments
Other
- Phenotypic Data Includes Leiter, Mullen, PPVT, Vineland, WASI, pedigree, and diagnostic data.
Clinical Instruments
Other
- Phenotypic Data Includes ADI, ADOS, WISC, WPPSI, Leiter, Mullen, WAIS, Vineland, and PPVT data.
Clinical Instruments
Other
- Phenotypic Data Includes ADI, ADOS, Vineland, Leiter-R, Mullen, WISC, WASI, DAS, Stanford-Binet, PPVT, CTOPP, and ABC data files.
Clinical Instruments
Other
- Phenotypic Data 14 data files, including ADI, ADOS, Child Beahvor Checklist, Child Behavior Questionnaire, Mullen, Repetitive Behavior Scale, Vineland, and other measures.
- Study 56 Age Onset Notes Phen [text or excel]
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
Genetic Data
Full Genome Genotyping
- AU Dataset 4 TASC GWAS Data. n=2893 records in n=964 families (99% trios). 1,160,305 markers on chr 1-23. PLINK files from Illumina 1M platform.
Clinical Instruments
Other
- Sites 211-221 TASC Phenotypic Data Includes ADI, BAP-Q, Body measurement, multiple IQ measure summary, RBS, SRS, Vineland data. Data is available in SAS format, but can be translated into .txt format by request.
- Sites 211-221 TASC Phenotypic Data – Documentation
- Study 65 Age Onset Notes Phen [text or excel]
- Study 65 ADI and ADOS summary data [text or excel]
Clinical Instruments
Other
- Phenotypic Data Includes ADI, ADOS, DASII, Leiter, Mullen, PPVT, WASI, WISC, WPPSI, and other cognitive measure data.
- Study 79 ADI-R Dx Summary Phen [text or excel]
- Study 79 ADI-R Phen [text or excel]
Clinical Instruments
Other
- Phenotypic Data Includes data about demographics, handedness, epilepsy, and ADOS and/or ADI summary information
Study 116
Cellular and Genetic Correlates of Increased Head Size in Autism Spectrum Disorder
Autism Spectrum Disorder
38
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
Study 172
A Clinical Study to Establish a Metabolic Biomarker-Based
Test to Diagnose Autism Spectrum Disorder in Early Childhood
367
Clinical Instruments
Other
- Study 172 ADOS2 Phen [text or excel]
- Study 172 Race and Ethnicity File [text or excel]
- Study 172 Dietary Information Phen [text or excel]
- Study 172 DSMV Phen [text or excel]
- Study 172 Father’s Medical History Phen [text or excel]
- Study 172 Medical History Phen [text or excel]
- Study 172 Mother’s Medical History Phen [text or excel]
- Study 172 MSEL:AGS Phen [text or excel]
- Study 172 Neurological Exam Phen [text or excel]
- Study 172 Physical Exam Phen [text or excel]
- Study 172 SCQ Phen [text or excel]
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
Study 201
Cellular, molecular, and functional imaging approaches to
understanding early neurodevelopment in autism. Project 3: Biological
substrates of risk and resilience using patient-derived stem cells
33
This study does not have any additional genetic or clinical data. All study data is included in the standard distribution files above.
Study 14 — Molecular Genetics of Infantile Autism
- AU Dataset 2 2 EN2 SNPs on chr 7
MULTIPLE — Studies 4, 14, 21
- AU Dataset 3 Family-based GWAS Data on 1,264 Non-AGRE Samples from NIMH Studies 4, 14, and 21. PLINK files from Affymetrix 5.0 and 500k platform available for download. Raw .CEL files are available for all samples genotyped, but must be shipped due to the large size of the files. To request shipment, please contact help@nrgr.on.spiceworks.com and reference your active access approval ID.
Study 21 — AGRE; A Genomewide Search for Autism Susceptibility Loci
- AU Dataset 1 Full Genome Screen, 48 markers on chr 1-23. 485 subjects.
Study 35 — Molecular and Genetic Epidemiology of Autism
- AU Dataset 5 CEL and CNV files for 2 nuclear families, n=9 subjects
Study 65 — Trio Autism Simplex Collection (TASC)
- AU Dataset 4 TASC GWAS Data. n=2893 records in n=964 families (99% trios). 1,160,305 markers on chr 1-23. PLINK files from Illumina 1M platform.
MULTIPLE — Studies 21, 64, 65
- Study 21, 64, & 65 Language Questionnaire
- Study 21, 64, & 65 Mullen
- Study 21, 64, & 65 Peabody Picture Vocabulary Test
- Study 21, 64, & 65 Raven
- Study 21, 64, & 65 Stanford Binet
- Study 21, 64, 65 Vineland Adaptive Behavior Scale
MULTIPLE — Studies 39, 63, 69
- Study 39, 63 & 69 Phenotypic Data Includes ABC, ADI, ADOS, BAP-Q, CELF, CHARGE, CTOPP, MULLEN, PPVT, NEO, SRS, Vineland, WRAT, among other instruments.
Study 4 — Collaborative Linkage Study of Autism
- Phenotypic Data from sites 60, 61, & 89. Site 61 data is the most comprehensive, but all files include race, ethnicity, and diagnosis. Site 61 file also includes education, occupation, and diagnosis information across multiple instruments.
Study 14 — Molecular Genetics of Infantile Autism
- Phenotypic Data Includes race, diagosis, IQ, and medical condition data.
Study 21 — AGRE; A Genomewide Search for Autism Susceptibility Loci
- Phenotypic Data Sites 72 & 74. Includes race, ethnicity, sex, zygosity, and ADIR, ADOS, and clinical diagnoses.
- Language Questionnaire Sites 72 & 74. For updated data and additional subjects, see combined AGRE data for studies 21, 64, & 65.
Study 32 — A Study of Autism - PI: Szatmari
- Phenotypic Data One summary file for the following measures: ADOS, Conner's Rating Scale, Expressive Vocabulary, Leiter International Performance Scale, Oral and Written Language Scale, Preschool Language Scale, Repetitive Behavior scale, Vineland, WASI
Study 35 — Molecular and Genetic Epidemiology of Autism
Study 36 — A Study of Autism - PI: McInnes
- Phenotypic Data Includes Leiter, Mullen, PPVT, Vineland, WASI, pedigree, and diagnostic data.
Study 37 — Research Units of Pediatric Psychopharmacology (RUPP-PI)
- Phenotypic Data Includes ADI, ADOS, WISC, WPPSI, Leiter, Mullen, WAIS, Vineland, and PPVT data.
Study 39 — New Jersey Language & Autism Genetics Study (NJLAGS)
Study 41 — The Development of the Siblings of Children with Autism: A Longitudinal Study (STAART)
- Phenotypic Data Includes ADI, ADOS, Vineland, Leiter-R, Mullen, WISC, WASI, DAS, Stanford-Binet, PPVT, CTOPP, and ABC data files.
Study 44 — Genetic Analysis of 15q11-q13 in Autism
Study 50 — Genetics of Autism Intermediate Phenotypes
Study 56 — Clinical and Immunological Investigations of Subtypes of Autism
- Phenotypic Data 14 data files, including ADI, ADOS, Child Beahvor Checklist, Child Behavior Questionnaire, Mullen, Repetitive Behavior Scale, Vineland, and other measures.
- Study 56 Age Onset Notes Phen [text or excel]
Study 60 — A Study of Autism - PI: Piven
Study 63 — Interdisciplinary Studies of Insistence on Sameness in Autism Spectrum Disorders
Study 65 — Trio Autism Simplex Collection (TASC)
- Sites 211-221 TASC Phenotypic Data Includes ADI, BAP-Q, Body measurement, multiple IQ measure summary, RBS, SRS, Vineland data. Data is available in SAS format, but can be translated into .txt format by request.
- Sites 211-221 TASC Phenotypic Data – Documentation
- Study 65 Age Onset Notes Phen [text or excel]
- Study 65 ADI and ADOS summary data [text or excel]
Study 69 — Biological and Information Processing Mechanisms Underlying Autism
Study 79 — Autism Genetics: Homozygosity Mapping & Functional Validation
- Phenotypic Data Includes ADI, ADOS, DASII, Leiter, Mullen, PPVT, WASI, WISC, WPPSI, and other cognitive measure data.
- Study 79 ADI-R Dx Summary Phen [text or excel]
- Study 79 ADI-R Phen [text or excel]
Study 86 — Autism-Spectrum Disorder Genetics
Study 112 — The Genetics of Autism: Epilepsy as a Biomarker
- Phenotypic Data Includes data about demographics, handedness, epilepsy, and ADOS and/or ADI summary information
Study 172 — A Clinical Study to Establish a Metabolic Biomarker-Based Test to Diagnose Autism Spectrum Disorder in Early Childhood
- Study 172 ADOS2 Phen [text or excel]
- Study 172 Race and Ethnicity File [text or excel]
- Study 172 Dietary Information Phen [text or excel]
- Study 172 DSMV Phen [text or excel]
- Study 172 Father’s Medical History Phen [text or excel]
- Study 172 Medical History Phen [text or excel]
- Study 172 Mother’s Medical History Phen [text or excel]
- Study 172 MSEL:AGS Phen [text or excel]
- Study 172 Neurological Exam Phen [text or excel]
- Study 172 Physical Exam Phen [text or excel]
- Study 172 SCQ Phen [text or excel]
Study 201 — Cellular, molecular, and functional imaging approaches to understanding early neurodevelopment in autism. Project 3: Biological substrates of risk and resilience using patient-derived stem cells