Eligibility Criteria

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, subject aliases, and affection status.
    3. The pedigree table includes subject ID, family ID, father and mother ID, and subject gender to link subjects of the same family.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
    5. This subject phenotype table includes subject gender, ancestry, ethnicity, race, paternal and maternal age at proband's birth, blood draw age, subject's relationship to proband, and final diagnosis. Physical observations include Tanner staging (n=6 variables) and CHARGE physical exam (n=9 variables). Laboratory measurements include serotonin (WB5HT) measurements (n=6 variables), karotype abnormalities, fragile-X test, duplication testing, and MRI. Psychological and Psychiatric Measurements include the following: cognitive measurments (n=11 variables), ADI-R (n=21 variables), VABS-II (n=6 variables), ADOS (n=12 variables), PPVT-4 (n=4 variables), EOWPVT (n=4 variables), CELF (n=3 variables), PLS-4 (n=4 variables), ABC-CV (n=6 variables), SCQ (n=3 variables), SRS (n=11 variables), RBS-R (n=9 variables), OCI-R (n=8 variables), CRI (n=4 variables), BAPQ (n=11 variables), PRL (n=9 variables), and SST (n=4 variables).
    6. This sample attributes table includes body site where sample was extracted, analyte type, tumor status, histological type, DNA extraction method, genotyping and sequencing center.
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Family-based association design;
Description

Elig.phs000712.v1.p1.1

Type de données

boolean

Alias
UMLS CUI [1,1]
C4050355
UMLS CUI [1,2]
C1707689
Probands met ADI and ADOS algorithm criteria for Autism or ASD as well as a best estimate diagnosis of either Autism or ASD; and,
Description

Elig.phs000712.v1.p1.2

Type de données

boolean

Alias
UMLS CUI [1,1]
C0679228
UMLS CUI [1,2]
C0002045
UMLS CUI [1,3]
C1510586
UMLS CUI [1,4]
C0004352
UMLS CUI [2,1]
C1441495
UMLS CUI [2,2]
C0011900
UMLS CUI [2,3]
C0004352
UMLS CUI [2,4]
C1510586
At enrollment, no known genetic disorders.
Description

Elig.phs000712.v1.p1.3

Type de données

boolean

Alias
UMLS CUI [1,1]
C1516879
UMLS CUI [1,2]
C1298908
UMLS CUI [1,3]
C0019247

Similar models

Eligibility Criteria

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, subject aliases, and affection status.
    3. The pedigree table includes subject ID, family ID, father and mother ID, and subject gender to link subjects of the same family.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
    5. This subject phenotype table includes subject gender, ancestry, ethnicity, race, paternal and maternal age at proband's birth, blood draw age, subject's relationship to proband, and final diagnosis. Physical observations include Tanner staging (n=6 variables) and CHARGE physical exam (n=9 variables). Laboratory measurements include serotonin (WB5HT) measurements (n=6 variables), karotype abnormalities, fragile-X test, duplication testing, and MRI. Psychological and Psychiatric Measurements include the following: cognitive measurments (n=11 variables), ADI-R (n=21 variables), VABS-II (n=6 variables), ADOS (n=12 variables), PPVT-4 (n=4 variables), EOWPVT (n=4 variables), CELF (n=3 variables), PLS-4 (n=4 variables), ABC-CV (n=6 variables), SCQ (n=3 variables), SRS (n=11 variables), RBS-R (n=9 variables), OCI-R (n=8 variables), CRI (n=4 variables), BAPQ (n=11 variables), PRL (n=9 variables), and SST (n=4 variables).
    6. This sample attributes table includes body site where sample was extracted, analyte type, tumor status, histological type, DNA extraction method, genotyping and sequencing center.
Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000712.v1.p1.1
Item
Family-based association design;
boolean
C4050355 (UMLS CUI [1,1])
C1707689 (UMLS CUI [1,2])
Elig.phs000712.v1.p1.2
Item
Probands met ADI and ADOS algorithm criteria for Autism or ASD as well as a best estimate diagnosis of either Autism or ASD; and,
boolean
C0679228 (UMLS CUI [1,1])
C0002045 (UMLS CUI [1,2])
C1510586 (UMLS CUI [1,3])
C0004352 (UMLS CUI [1,4])
C1441495 (UMLS CUI [2,1])
C0011900 (UMLS CUI [2,2])
C0004352 (UMLS CUI [2,3])
C1510586 (UMLS CUI [2,4])
Elig.phs000712.v1.p1.3
Item
At enrollment, no known genetic disorders.
boolean
C1516879 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C0019247 (UMLS CUI [1,3])