Elig.phs000494.v1.p1.1
Item
*Cohorts A through G*. All submitted genotyping records are from patients with electronic medical records at CCHMC.
boolean
C1285573 (UMLS CUI [1,1])
C0025102 (UMLS CUI [1,2])
C0030705 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.2
Item
*Cohort A) Autism*. The cases for this cohort comprise a subgroup of autism defined by a history of developmental regression. To ensure as homogeneous a sample as possible, subjects were included if they met criteria for Autistic Disorder by clinical evaluation, and confirmed by the Autism Diagnostic Observation Schedule (ADOS). Children were excluded from the study if they had a diagnosis of a developmental disorder in addition to autism, such as Down syndrome, Tuberous Sclerosis or Fragile X syndrome. Children with epilepsy or a history of seizures were not excluded.
boolean
C0004352 (UMLS CUI [1,1])
C0262926 (UMLS CUI [1,2])
C0424605 (UMLS CUI [1,3])
C0205394 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])
C0008073 (UMLS CUI [2,3])
Elig.phs000494.v1.p1.3
Item
*Cohort B) Cardiovascular (CV) disease*. Based on the initial interview, a determination of the likelihood of familial CV disease in the young was made, and subjects were divided into two groups − two or more family members with CV disease in the young (familial) or no additional family history of CV disease in the young (nonfamilial). Probands were identified through their pediatric cardiologists.
boolean
C0007222 (UMLS CUI [1,1])
Elig.phs000494.v1.p1.4
Item
Inclusion − a diagnosis of cardiovascular disease in the young without regard to sex, age, or race in the proband; family members of probands were invited to participate. There is no known ethnic/racial predilection for cardiovascular disease in the young.
boolean
C0007222 (UMLS CUI [1,1])
C0238598 (UMLS CUI [1,2])
Elig.phs000494.v1.p1.5
Item
Exclusion − known genetic diagnosis (e.g. trisomy 21, chromosome 22q11 deletion, and any other cytogenetic abnormality) or certain phenotypes (e.g. hypertrophic cardiomyopathy, Marfan's syndrome, etc.).
boolean
C0680251 (UMLS CUI [1,1])
C0017399 (UMLS CUI [1,2])
C0011900 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.6
Item
*Cohort C) Eosinophilic Esophagitis (EE)*. Individuals were required to meet at least one criterion from the list below in order to be included in the original study. Background information was required to analyze the data thoroughly including medical history, slides, and pathology reports, as well as information from CCHMC medical records:
boolean
C0014868 (UMLS CUI [1,1])
C0014467 (UMLS CUI [1,2])
Elig.phs000494.v1.p1.7
Item
Patients undergoing diagnostic endoscopy, colonoscopy, venipuncture, and/or atopy testing at Cincinnati Children's Hospital Medical Center.
boolean
C0014245 (UMLS CUI [1,1])
C0009378 (UMLS CUI [1,2])
C0190979 (UMLS CUI [1,3])
C0392707 (UMLS CUI [1,4])
C0430561 (UMLS CUI [1,5])
Elig.phs000494.v1.p1.8
Item
Patients cared for in CCHMC clinics, for example, Allergy/Immunology and Gastroenterology.
boolean
C0030705 (UMLS CUI [1,1])
C3489408 (UMLS CUI [1,2])
Elig.phs000494.v1.p1.9
Item
Participants could be no younger than one year of age and no older than 65 years of age.
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs000494.v1.p1.10
Item
Family members of patients diagnosed with an eosinophilic disorder.
boolean
C0086282 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
C0014467 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.11
Item
Healthy human volunteers, including employees recruited from the laboratories at the Cincinnati Children's Research Foundation and the Cincinnati Genomic Control Cohort.
boolean
C1708335 (UMLS CUI [1,1])
C0599987 (UMLS CUI [2,1])
C0022877 (UMLS CUI [2,2])
Elig.phs000494.v1.p1.12
Item
*Cohort D) Juvenile idiopathic arthritis (JIA)*. Inclusion: Patients were required to have an established or probable diagnosis of oligoarthritis, extended oligoarthritis or polyarthritis (RF positive or negative) or systemic JIA as determined by International League Against Rheumatism criteria. (Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, He X, Maldonado-Cocco J, Orozco-Alcala J, Prieur AM, Suarez-Almazor ME, Woo P. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 2004;31(2):390-2) PMID: 14760812
boolean
C1444841 (UMLS CUI [1,1])
C0332148 (UMLS CUI [1,2])
C0332139 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.13
Item
Exclusion: The patient was excluded if they had any uncontrolled, clinically significant pre-existing systemic disease unrelated to the primary rheumatic disease, including hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic conditions. The patient was also excluded if he or she has a history or current substance abuse or psychiatric problem that, in the investigator's opinion, would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
boolean
C0680251 (UMLS CUI [1,1])
C0205318 (UMLS CUI [2,1])
C2347662 (UMLS CUI [2,2])
C0442893 (UMLS CUI [2,3])
C2985739 (UMLS CUI [2,4])
C0740858 (UMLS CUI [3,1])
C0004936 (UMLS CUI [3,2])
C0021430 (UMLS CUI [3,3])
C1299582 (UMLS CUI [3,4])
C0525058 (UMLS CUI [3,5])
C1299582 (UMLS CUI [3,6])
Elig.phs000494.v1.p1.14
Item
*Cohort E) Childhood Absence Epilepsy (CAE)*. The original study was a parallel, randomized, double blinded study, with partial crossover to open label at treatment failure only. Three AEDs, ethosuximide (ETX), lamotrigine (LTG), and valproic acid (VPA) were compared as initial monotherapy in children with Childhood Absence Epilepsy (CAE) who weighed at least 10 kg and were older than 2.5 years old and younger than 13 years old at study entry.
boolean
C3263988 (UMLS CUI [1,1])
C0003299 (UMLS CUI [1,2])
C0015043 (UMLS CUI [1,3])
C0080356 (UMLS CUI [1,4])
C0064636 (UMLS CUI [1,5])
Elig.phs000494.v1.p1.15
Item
Diagnosis: Clinical diagnosis of Childhood Absence Epilepsy consistent with the International League against Epilepsy Proposal for Revised Classification of Epilepsies and Epileptic Syndromes.
boolean
C0332140 (UMLS CUI [1,1])
C3263988 (UMLS CUI [1,2])
C0332290 (UMLS CUI [1,3])
C0008902 (UMLS CUI [1,4])
Elig.phs000494.v1.p1.16
Item
EEG: Interictal EEG demonstrating bilateral synchronous symmetrical approximate 3 Hz spike waves on a normal background with at least one burst lasting ≥3 seconds.
boolean
C3807331 (UMLS CUI [1,1])
C0238767 (UMLS CUI [1,2])
C0439580 (UMLS CUI [1,3])
C0332516 (UMLS CUI [1,4])
C2206302 (UMLS CUI [1,5])
Elig.phs000494.v1.p1.17
Item
Age > 2.5 years and < 13 years of age at study entry.
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs000494.v1.p1.18
Item
Body weight ≥ 10 kilograms.
boolean
C0005910 (UMLS CUI [1,1])
Elig.phs000494.v1.p1.19
Item
Body Mass Index: BMI for age < 99th percentile.
boolean
C1305855 (UMLS CUI [1,1])
Elig.phs000494.v1.p1.20
Item
Hepatic 4.1.6.1 AST/ALT < 2.5 times the upper limit of normal and Total bilirubin < 1.5 times the upper limit of normal.
boolean
C0232741 (UMLS CUI [1,1])
C1278039 (UMLS CUI [1,2])
C0201899 (UMLS CUI [1,3])
C0201836 (UMLS CUI [1,4])
Elig.phs000494.v1.p1.21
Item
Hematologic: Absolute neutrophil count ≥1500/mm<sup>3</sup>, platelets ≥ 120, 000 /mm<sup>3</sup>.
boolean
C0221130 (UMLS CUI [1,1])
C0948762 (UMLS CUI [1,2])
C0032181 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.22
Item
Female subjects had to be premenarchal at the time of enrollment and willing to agree to abstinence for the duration of the study.
boolean
C2609149 (UMLS CUI [1,1])
C3843422 (UMLS CUI [1,2])
C0347984 (UMLS CUI [1,3])
C0008976 (UMLS CUI [1,4])
Elig.phs000494.v1.p1.23
Item
Parent/legal guardian(s) willing to sign an IRB approved informed consent.
boolean
C0021430 (UMLS CUI [1,1])
C0030551 (UMLS CUI [1,2])
C1274041 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.24
Item
Subject assent (when appropriate and as dictated by local IRB).
boolean
C0021430 (UMLS CUI [1,1])
Elig.phs000494.v1.p1.25
Item
*Exclusion Criteria* Treatment for CAE with AEDs for a period of greater than 14 days prior to randomization.
boolean
C0680251 (UMLS CUI [1,1])
C3263988 (UMLS CUI [1,2])
C0003299 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.26
Item
History of a major psychiatric disease (e.g. psychosis, major depression).
boolean
C0262926 (UMLS CUI [1,1])
C4534351 (UMLS CUI [1,2])
Elig.phs000494.v1.p1.27
Item
History of autism or pervasive development disorder.
boolean
C0262926 (UMLS CUI [1,1])
C1510586 (UMLS CUI [1,2])
C0524528 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.28
Item
History of non-febrile seizures other than typical absence seizures. This includes a history of an afebrile generalized tonic clonic seizure.
boolean
C0863106 (UMLS CUI [1,1])
C0748577 (UMLS CUI [2,1])
C0863106 (UMLS CUI [2,2])
Elig.phs000494.v1.p1.29
Item
Clinical signs and symptoms consistent with a diagnosis of juvenile absence epilepsy or juvenile myoclonic epilepsy as delineated by the International League against Epilepsy Proposal for Revised Classification of Epilepsies and Epileptic Syndromes.
boolean
C3540840 (UMLS CUI [1,1])
C0270853 (UMLS CUI [2,1])
C0014553 (UMLS CUI [2,2])
C3146221 (UMLS CUI [2,3])
Elig.phs000494.v1.p1.30
Item
History of recent or present significant medical disease (i.e, cardiovascular, hepatic, renal, gynecologic, musculoskeletal, metabolic or endocrine).
boolean
C0262926 (UMLS CUI [1,1])
C0150312 (UMLS CUI [1,2])
C0332185 (UMLS CUI [1,3])
C0750502 (UMLS CUI [1,4])
C3843040 (UMLS CUI [1,5])
Elig.phs000494.v1.p1.31
Item
History of a severe dermatologic reaction (e.g. Stevens Johnson, toxic Epidermolysis Necrosis) to medication.
boolean
C0262926 (UMLS CUI [1,1])
C0041755 (UMLS CUI [1,2])
C0037274 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.32
Item
Subject or parent/legal guardian might not be reasonably expected to be compliant with or to complete the study.
boolean
C0030551 (UMLS CUI [1,1])
C1274041 (UMLS CUI [1,2])
C1997894 (UMLS CUI [1,3])
C0681842 (UMLS CUI [1,4])
C0525058 (UMLS CUI [1,5])
C1299582 (UMLS CUI [1,6])
Elig.phs000494.v1.p1.33
Item
Participation in a trial of an investigational drug or device within 30 days prior to screening.
boolean
C2348568 (UMLS CUI [1,1])
C0013230 (UMLS CUI [1,2])
C2346570 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,4])
Elig.phs000494.v1.p1.34
Item
Use of systemic contraceptive for any indication, including acne.
boolean
C1524063 (UMLS CUI [1,1])
C3653707 (UMLS CUI [1,2])
Elig.phs000494.v1.p1.35
Item
*Cohort F) Cincinnati Controls*. There are no inclusion or exclusion criteria, except that the subject must have been a resident of Cincinnati at the time of enrollment. These children were ascertained to reflect the local population.
boolean
C0009932 (UMLS CUI [1,1])
C2347958 (UMLS CUI [1,2])
C0205276 (UMLS CUI [1,3])
Elig.phs000494.v1.p1.36
Item
*Cohort G) Cytogenetics*. There are no inclusion or exclusion criteria except that they be ascertained through their being evaluated by cytogenetics testing at CCHMC.
boolean
C0010802 (UMLS CUI [1,1])
C0752095 (UMLS CUI [2,1])