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dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare - Eligibility

- 27.11.24 - 6 Formulare, 2 Itemgruppen, 11 Datenelemente, 1 Sprache
Itemgruppen: IG.elig, IG.elig
Principal Investigator: Scott T. Weiss, MD, MS, Partners HealthCare System, Boston, MA, USA MeSH: Hypercholesterolemia,Asthma,Arthritis, Rheumatoid,Attention Deficit Disorder with Hyperactivity,Bipolar Disorder,Coronary Disease,Depression,Heart Failure,Inflammatory Bowel Diseases,Multiple Sclerosis,Schizophrenia,Stroke https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000944 The Partners HealthCare Biobank is a large research data and sample repository working within the framework of Partners Personalized Medicine. It provides researchers access to high quality, consented samples to help foster research, advance understanding of the causes of common diseases, and advance the practice of medicine. The Partners Biobank provides banked samples (plasma, serum and DNA) collected from consented patients. These samples are available for distribution to Partners HealthCare investigators with appropriate approval from the Partners Institutional Review board (IRB). They are linked to clinical data that originates in the Electronic Medical Record (EMR), as well as additional health information collected in a self-reported survey. The Partners Biobank will be genotyping 25,000 subjects with the Illumina Multiethnic Beadchip 1.6 million SNPs with exome and custom content ( 60,000 LoFs). Of the participants genotyped so far, 4929 of 4962 (99.3%) individuals have genotype data that passed the default quality thresholds for the Infinium array (call rate = 0.99). We are submitting the genotype data to dbGaP for 4929 subjects with 12 phenotypes (based on icd9 codes). We will do annual releases until we reach the full 25,000 genotyped subjects.

pht004847.v1.p1

1 Itemgruppe 5 Datenelemente

pht005288.v1.p1

1 Itemgruppe 6 Datenelemente

pht004844.v1.p1

1 Itemgruppe 2 Datenelemente

pht004845.v1.p1

1 Itemgruppe 3 Datenelemente

pht004846.v1.p1

1 Itemgruppe 18 Datenelemente

dbGaP phs000906 eMERGE Network PGx Cohort - pht007150.v1.p1

- 06.04.24 - 7 Formulare, 1 Itemgruppe, 2 Datenelemente, 1 Sprache
Itemgruppe: pht007150
Principal Investigator: Isaac Kohane, Boston Children's Hospital, Boston, MA, USA MeSH: Pharmacogenetics,Atrial Fibrillation,Attention Deficit Disorder with Hyperactivity,Cardiovascular Diseases,Epilepsy,Heart Failure,Hypertension,Malignant Hyperthermia,Long QT Syndrome,Atomoxetine,Clopidogrel,Methylphenidate,Simvastatin,Warfarin,Hydroxymethylglutaryl-CoA Reductase Inhibitors https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000906 eMERGE-PGx is a multi-site test of the concept that sequence information can be coupled to electronic medical records (EMRs) for use in healthcare. The promise of personalized medicine - health care guided by each individual's biological characteristics - is being fostered by increasingly powerful and economical methods to acquire clinically relevant biomarkers from large numbers of people. One therapeutic area that seems especially ripe for an early test of the personalized medicine concept is pharmacogenomics (PGx) - the idea that individual variation in drug response includes a genomic component. Drug response variation is an accepted feature of virtually all drug treatments, and contemporary molecular biologic tools continue to identify key genes mediating drug metabolism, transport, and targets. Importantly, common variation in these genes is an increasingly well-recognized contributor, sometimes with large effects, to variation in drug responses. As a result, recommendations for genotype-guided therapy are increasing. These evidence-based recommendations, if implemented in health care practice, could reduce adverse drug events and improve time to therapeutic response. Through eMERGE-PGx, we are developing strategies for the optimal implementation of genetic sequence data into the clinical environment with the ultimate goal of improving patient care. *Site and participants include*: *Children's Hospital of Pennsylvania (CHOP)*: The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases. The PGx population selected for sequencing with the PGRNseq panel at CHOP is 1,650 children from CAG's biorepository with well-documented drug-related severe adverse events (SAEs) or EHR-based drug response profiles. SAEs were extracted from EPIC records and from CHOP's Adverse Event (AE) database, which documents every AE at CHOP. These AEs are classified by a medical review panel according to the causal relationship with the suspected drug into 'doubtful', 'possible', and 'probable'. Individuals with events classified as probable, severe and objective, were selected for sequencing. The drugs more frequently associated with adverse events are antibiotics, antineoplastics, immunosuppressants and psychotropic drugs. This cohort constitutes 50% of the target population. The remaining subjects were selected using EHR-based algorithms that we have developed and validated at CAG for identifying patients not responding to ADHD medication (primarily atomoxetine) and patients refractory to antiepileptic treatment from responders. *Cincinnati Children's Hospital Medical Center/Boston's Children's Hospital (CCHMC/BCH)*: 811 CCHMC samples were obtained from children, adolescents or young adults exposed to medication or at risk for needing medication of study interest. 55% of participants were exposed to one or more opioids and their DNA source was a CCHMC study-specific biobank; while 27% of participants were at risk for needing an opioid for surgical pain management and were newly recruited. The remainder of the cohort was exposed to methylphenidate and their DNA samples were obtained from a CCHMC study-specific biobank. The focus of Boston Children's Hospital eMERGE PGx project is on individuals with epilepsy. Samples were taken from a current pharmacogenomics study already in place through which DMET analysis was run and used as confirmation for PGRN-Seq results. A total of 109 samples were sent for PGRN-Seq analysis at University of Washington. The remaining 141 epilepsy samples were from Children's Hospital of Philadelphia and underwent testing with PGRN-Seq at CHOP. *Geisinger Health System*: A research cohort of adult Geisinger Clinic patients was enrolled from community-based primary care clinics of the Geisinger Health System. Patients were eligible for enrollment if they were a primary care patient of a Geisinger Clinic physician and were scheduled for a non-emergent clinic visit. All data are from Geisinger patients who consent to participate in the MyCode project. MyCode participants agree to provide biological samples for broad research use, including genomic analysis, and for linking of sample data to information in the participant's Geisinger health record. The consent also permits sharing of de-identified data for research purposes. *Group Health(GH)/University of Washington (UW)*: Potential GH participants for the PGx project were enrolled in the eMERGE Network through the Northwest Institute of Genetic Medicine (NWIGM) biorepository, and provided the appropriate consent to receive clinically relevant genetic results (N~6300). Participants were eligible if aged 50 - 65 years old at the time of their enrollment into the NWIGM repository, living, enrolled in GH's integrated group practice, and had completed an online Health Risk Appraisal. The selection algorithm was based on several data sources from the EHR at Group Health: 1. Demographics - participants with self-reported race as Asian or African ancestry were prioritized and selected to enrich for non-European ancestry; 2. Diagnosis and procedure codes - participants were selected if found to have a history of hypertension, atrial fibrillation (AF,) or congestive heart failure (CHF). Participants with a history of arrhythmia were added if the entire selection algorithm did not generate 900 individuals. We also enriched for participants with EHR evidence of actionable indications related to PGRNSeq genes. Participants were selected if found to have an ICD9 code for malignant hyperthermia, hypertension, atrial fibrillation, congestive heart failure or long QT syndrome (LQTS); 3. Laboratory values - if a participant had any laboratory event of creatine kinase (CK) 1000, and were dispensed statins within 6 months of the event, then they were selected; and 4. Medications - participants were excluded if ever on carbamazepine or had a current regimen of warfarin. *Essentia Institute of Rural Health, Marshfield Clinic, Pennsylvania State University (Marshfield)*: For this study, 750 subjects were selected and enrolled into PGx based on Vanderbilt's algorithm designed to enrich for patients who are most likely to receive one of three common drugs (Clopidogrel, Warfarin or Simvastatin) in the next 2-3 years. These patients were sent a letter of invitation and description of the PGx project. Follow-up phone calls were made, and interested subjects came in for a one time meeting to discuss the project and go through the informed consent with the research coordinator. If they were interested they signed the consent and HIPAA forms and gave blood. Subjects were chosen and enrolled into PGx independently of previous biobank participation. *Mayo Clinic*: The Right Drug, Right Dose, Right Time - Using Genomic Data to Individualize Treatment (The RIGHT Protocol) enrolled 1013 patients to test the hypothesis that prescribers could deliver genome-guided drug therapy at the point-of-care by using pharmacogenomic data preemptively integrated in the electronic medical record. Complete details regarding the study population have been previously described (Bielinski et al., 2014). *Icahn School of Medicine at Mount Sinai School (Mt Sinai)*: Our study site is the Primary Care Associates (PCA) practice group of the Mount Sinai Faculty Practice Associates (FPA) of the Mount Sinai Medical Center in New York City. This practice has 12 physician providers. All patient encounters are documented and managed with EpicCare ambulatory electronic medical record. Active PCA Patients eligible for enrollment fulfilled the following criteria: a) age 50 or older receiving clinical care at Mount Sinai FPA PCA practice with at least one practice encounter within 18 months prior to commencement of enrollment; b) no history or current use of clopidogrel, warfarin, or simvastatin. Eligible patients were invited to participate through *de novo* recruitment by letter sent by their provider. Interested patients were screened for eligibility and enrolled to participate in the eMERGE PGX study on site by a dedicated research coordinator. In addition to *de novo* enrollment from clinical practice, patients of FPA PCA who had previously enrolled in Mount Sinai's BioMe Biobank program AND fulfilled eligibility criteria as stated under a) and b) were identified by chart review and samples sequenced at CIDR using PGRNseq platform (N=300). PGRNseq data from 291 samples passed stringent quality control and are included in the current data set. Furthermore, 56 of these patients carrying known and validated 'actionable' variants affecting prescribing of clopidogrel, warfarin, and/or simvastatin were enrolled in the eMERGE PGX study following invitation through recontacting by the Principal Investigator of the BioMe Program. *Northwestern University*: Participants for this study were recruited from the General Internal Medicine (GIM) clinic at Northwestern Medical Group (NMG). Patients were selected for invitation to participate if they had been seen a minimum of two times over the last four years, having a high likelihood to receive a prescription for warfarin, Plavix, or a statin, and are seeing a physician who has agreed to allow their patients to be contacted for the study. We utilized an algorithm developed at Vanderbilt and tailored to our population which uses our EHR to estimate the probability that individuals will receive a prescription for warfarin, Plavix, or a statin in the next three years. Participants were sent a letter explaining the study prior to their GIM appointment and offered participation at the time of their visit. Participants were consented on-site and blood drawn after consent was obtained. The GIM clinic consists of 39 primary care physicians who provide approximately 80,000 patient encounters per year. As with any large primary care clinic, a significant proportion of patients in GIM clinic suffer from a variety of chronic health conditions, such as diabetes, hypertension, and coronary artery disease. Over 50,000 individuals have been seen by GIM doctors in the past 5 years; 11,562 of these patients have evidence of a statin prescription in the EHR, 3,436 have evidence of a warfarin prescription, and 1,872 have evidence of a Plavix prescription. *Vanderbilt University*: The more than 1000 participants enrolled into Vanderbilt's eMERGE PGx study were newly recruited from the Cardiology and Internal Medicine Clinics and the Hillsboro Medical Group within Vanderbilt University Medical Center (VUMC). Patients were selected based on a predictive algorithm estimating the patient's likelihood of receiving Clopidogrel, Warfarin, and/or Simvastatin. The algorithm identifies primarily older middle-aged patients, and the mean age of the study group is 74. The cohort is approximately 45% female with 75% of subjects self-identified as EA and 24% as AA. Subjects were consented in person by study personnel following a routine clinic visit and an introduction to the study staff by their doctor. VUMC is a comprehensive health care facility dedicated to patient care, research, and the education of health care professionals. Translational research into the causes and treatment of disease as well as studying fundamental biological properties is the primary focus of discovery at Vanderbilt. Clinical research is conducted in Vanderbilt University Hospital, the Nashville Veterans Administration Hospital, Meharry General Hospital and in their associated outpatient clinics. These hospitals and clinics, all associated with the Vanderbilt system, each have full time Vanderbilt faculty and medical housestaff and provide clinical care and participate in research programs. The Vanderbilt Clinic is comprised of more than 95 adult outpatient specialty practices and received over 1.5 million ambulatory visits in 2012-13. The Vanderbilt Heart and Vascular Institute offers a comprehensive heart program offering diagnosis, medical treatment, minimally invasive therapies, surgical intervention and disease management, tailored to each individual's unique needs. All programs within the Vanderbilt Clinic have survival figures that surpass the national average.

pht007144.v1.p1

1 Itemgruppe 4 Datenelemente

pht007145.v1.p1

1 Itemgruppe 7 Datenelemente

pht007146.v1.p1

1 Itemgruppe 6 Datenelemente

pht007147.v1.p1

1 Itemgruppe 8 Datenelemente

pht007148.v1.p1

1 Itemgruppe 8 Datenelemente

pht007149.v1.p1

1 Itemgruppe 9 Datenelemente

dbGaP phs000961 eMERGE III: Columbia GENIE (Genomic Integration with EHR) - pht005331.v1.p1

- 31.01.24 - 5 Formulare, 1 Itemgruppe, 3 Datenelemente, 1 Sprache
Itemgruppe: pht005331
Principal Investigator: Chunhua Weng, PhD, Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA MeSH: NA,Renal Insufficiency, Chronic,Alzheimer Disease,Aortic Aneurysm, Abdominal,Asthma,Attention Deficit Disorder with Hyperactivity,Clostridium difficile,Dermatitis, Atopic,Diabetes Mellitus, Type 2,Heart Diseases,Herpes Zoster,Hypothyroidism,Methicillin-Resistant Staphylococcus aureus,Prostatic Hyperplasia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000961 The Columbia GENIE study contributes and shares phenotype and genotype data for individuals who were treated with our healthcare facilities and consented to share their data with dbGaP for scientific discovery. Some of these individuals have kidney or neurological problems and some are healthy volunteers from the Washington Height patient community. The purpose of this NOMAS study is to obtain information about physical features of the brain, carotid arteries, and heart. Some of our patients are pediatric patients with cardiac conditions. The study sample consists of four patient cohorts: - Northern Manhattan Study (NOMAS), N=1072 - Pediatric Cardiac Genomic Consortium (PCGC), n=374 - Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease (Caribbean Hispanics/AD), n=330 - Alzheimer's Disease Sequencing Project (ADSP, n=44) - Genetics of Chronic Kidney Disease Study, n=1256

pht005332.v1.p1

1 Itemgruppe 23 Datenelemente

pht005333.v1.p1

1 Itemgruppe 3 Datenelemente

Eligibility

1 Itemgruppe 3 Datenelemente

pht005330.v1.p1

1 Itemgruppe 4 Datenelemente

dbGaP phs000682 Genetics of Neuropsychiatric and Neurodevelopmental Disorders - Eligibility

- 24.01.23 - 6 Formulare, 1 Itemgruppe, 15 Datenelemente, 1 Sprache
Itemgruppe: IG.elig
Principal Investigator: David Goldstein, PhD, Duke University, Durham, NC, USA MeSH: Schizophrenia,Schizoaffective disorder,Attention Deficit Hyperactivity Disorder,Seizures,Oppositional defiant disorder,Anxiety,Depression,Autism,Autism Spectrum Disorders,Bipolar Disorder,Developmental Disabilities,Ataxia,Migraine,Paranoid schizophrenia,Obsessive compulsive disorder,Kluver-Bucy syndrome,Intellectual disability https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000682 Although schizophrenia is a highly heritable disease, relatively little progress had been made in securely identifying the genetic causes of this disorder, and most instances of schizophrenia in the general population remain unexplained. One avenue of explanation for the genetic basis of schizophrenia, however, has been effectively closed by recent research. Genome-wide association studies (GWAS) have now shown that common variation makes at most a modest contribution to the risk of schizophrenia. At the same time that the role of common variation has been circumscribed by GWAS, however, the analysis of copy number variants that are detectable on a genome-wide scale has revealed and replicated a number of very rare variants that associate with schizophrenia. These rare copy number variants that have been implicated in schizophrenia, however, have one striking feature in common: they are all risk factors for other brain related disorders beyond schizophrenia such as mental retardation, autism and epilepsy. These findings argue that genetic risk factors may confer a highly penetrant vulnerability to neuropsychiatric disorder, which is then further modified by interacting genetic or environmental factors to determine the ultimate manifestation. Most schizophrenia collections that are being studied today, however, have been selected precisely for their homogeneity: including only schizophrenia patients with no comorbidities, or schizophrenia patients with relatives who have schizophrenia but no other neuropsychiatric conditions. These selection criteria are inconsistent with what we now know about the bulk of the genetic differences that have been associated with disease. The central hypothesis of this project is that there are rare genetic variants that strongly elevate the risk of various neuropsychiatric diseases, and that these risk factors can be identified most readily in families segregating multiple neuropsychiatric conditions.

pht003594.v1.p1

1 Itemgruppe 5 Datenelemente

pht003595.v1.p1

1 Itemgruppe 6 Datenelemente

pht003596.v1.p1

1 Itemgruppe 5 Datenelemente

pht003597.v1.p1

1 Itemgruppe 5 Datenelemente

pht003598.v1.p1

1 Itemgruppe 3 Datenelemente

dbGaP phs000495 The Gene Partnership (TGP) - eMERGE Data - Eligibility

- 13.12.22 - 5 Formulare, 1 Itemgruppe, 7 Datenelemente, 1 Sprache
Itemgruppe: IG.elig
Principal Investigator: Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA MeSH: Autistic Disorder,Heart Defects, Congenital,Asthma,Attention Deficit Disorders,Diabetes Mellitus, Type 1,Diabetes Mellitus, Type 2,Epilepsy,Gastrointestinal Diseases,Hypersensitivity,Autoimmune Diseases,Hematologic Diseases,Neoplasms,Arrhythmias, Cardiac,Chromosome Aberrations,Congenital Abnormalities,Dermatology,Developmental Disabilities,Endocrine System,Otolaryngology,Syndrome,Urogenital System,Hearing Loss,Immune System Diseases,Musculoskeletal Abnormalities,Nervous System Diseases,Neuromuscular Diseases,Metabolic Diseases,Nutrition Disorders,Vision Disorders,Mouth Diseases,Mental Disorders,Kidney Diseases,Respiration Disorders,Thyroid Diseases,Vascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000495 The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "*The Gene Partnership*" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the *P*ediatric *A*lliance for *G*enomic and *E*lectronic Medical Record (EMR) *R*esearch (*PAGER*) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.

pht002864.v1.p1

1 Itemgruppe 4 Datenelemente

pht002865.v1.p1

1 Itemgruppe 5 Datenelemente

pht002866.v1.p1

1 Itemgruppe 42 Datenelemente

pht002867.v1.p1

1 Itemgruppe 4 Datenelemente

dbGaP phs000490 A Study of the Genetic Causes of Complex Pediatric Disorders - pht002969.v1.p1

- 04.11.22 - 10 Formulare, 1 Itemgruppe, 32 Datenelemente, 1 Sprache
Itemgruppe: pht002969
Principal Investigator: Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA MeSH: Asthma,Attention Deficit Disorder with Hyperactivity,Dermatitis, Atopic,Gastroesophageal Reflux,Lipoproteins, LDL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000490 The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases. A large majority of participants consenting to prospective genomic analyses also consent to analysis of their de-identified electronic medical records (EMRs). EMRs are longitudinal, with a mean duration of 6.5 years. CAG has committed to releasing genotype and phenotype data for 4000 individuals diagnosed with *asthma*, *ADHD*, *atopic dermatitis*, *GERD* (1000 for each), and 1000 individuals on the upper and lower ranges of *Low-Density Lipoprotein* (LDL) levels to dbGaP. We will also release genotype/phenotype of 3000 controls. Relevant phenotype data includes primary diagnoses (ICD9 codes), secondary diagnoses (ICD9 codes), medical procedures/tests conducted in relation to the phenotype, and a listing of relevant medications. Further details of CAG's research programs and capacity are available at: http://www.caglab.org

pht002961.v1.p1

1 Itemgruppe 3 Datenelemente

pht002963.v1.p1

1 Itemgruppe 3 Datenelemente

pht002964.v1.p1

1 Itemgruppe 21 Datenelemente

pht002965.v1.p1

1 Itemgruppe 27 Datenelemente

pht002966.v1.p1

1 Itemgruppe 26 Datenelemente

pht002967.v1.p1

1 Itemgruppe 28 Datenelemente

dbGaP phs000407 IMAGE II Genome-Wide Association - pht002646.v1.p1

- 12.10.22 - 3 Formulare, 1 Itemgruppe, 5 Datenelemente, 1 Sprache
Itemgruppe: pht002646
Principal Investigator: Stephen V. Faraone, SUNY Upstate Medical University, Syracuse, NY, USA MeSH: Attention Deficit Disorder with Hyperactivity,Attention Deficit and Disruptive Behavior Disorders https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000407 This sample represents a collection of cases across a range of sites. All of these samples were ascertained for ADHD with most meeting criteria for combined type ADHD. The collection sites span Europe and America. Further details on the source and inclusion and exclusion information can be found in Neale et al. "Case-Control Genome-Wide Association of Attention-Deficit / Hyperactivity Disorder" J Am Acad Child Adolesc Psychiatry. 2010 September; 49(9): 906-920 PMID20732627. For online access to this manuscript see: PMC2928577.

pht002647.v1.p1

1 Itemgruppe 5 Datenelemente

Eligibility

1 Itemgruppe 2 Datenelemente

dbGaP phs000358 PGC: the PUWMa GWAS of ADHD - pht002241.v1.p1

- 12.10.22 - 5 Formulare, 1 Itemgruppe, 5 Datenelemente, 1 Sprache
Itemgruppe: pht002241
Principal Investigator: Stephen V. Faraone, PhD, Departments of Psychiatry and Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY, USA MeSH: Attention Deficit Hyperactivity Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000358 The PUWMa GWAS of ADHD is a multi-site collaboration initiated to conduct a family-based association study from existing research samples. The source sample of ADHD families was ascertained at Massachusetts General Hospital (MGH, N=309 trios), Washington University at St. Louis (WASH-U, N=272 trios), and University of California at Los Angeles (UCLA, N=156 trios). All offspring met criteria for DSM-IV-TR attention-deficit hyperactivity disorder with childhood onset.

pht002242.v1.p1

1 Itemgruppe 4 Datenelemente

pht002243.v1.p1

1 Itemgruppe 24 Datenelemente

Eligibility

1 Itemgruppe 1 Datenelement

pht002240.v1.p1

1 Itemgruppe 5 Datenelemente

dbGaP phs000016 International Multi-Center ADHD Genetics Project - Eligibility

- 20.05.22 - 10 Formulare, 1 Itemgruppe, 9 Datenelemente, 1 Sprache
Itemgruppe: IG.elig
Principal Investigator: S. Faraone, SUNY Upstate Medical University, Syracuse, NY, USA MeSH: Attention Deficit Disorder with Hyperactivity https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000016 The goal of the project is to complete a 600,000 tag SNP genome-wide association scan of 958 parent-child trios from the International Multisite ADHD Genetics (IMAGE) project, in order to assess the association of SNP markers with ADHD, analyze quantitative ADHD phenotypes, complete copy number analyses, assess parent of origin effects and season of birth effects, and test for epistasis among apparently uncorrelated genes. *Acquiring DNA Samples* All consent forms stipulate that the samples can only be used by researchers who have been approved by the National Institute of Mental Health (NIMH), National Institutes of Health. All consent forms, except those used at the Zürich site (N=141 subjects), explicitly indicate that the samples may be used by researchers from commercial enterprises seeking to benefit financially from the analysis of the samples. The Zürich consent does not prohibit such use. The Zürich consent form also included an "opt out" that allowed the subjects to indicate that they did not want their samples stored at the NIMH repository or used by researchers external to the project. No subjects enrolled in the project opted out. *Consent groups and participant set* - ADHD (ADHD): 2758 (924 trios)

pht000051.v2.p2

1 Itemgruppe 60 Datenelemente

pht000052.v2.p2

1 Itemgruppe 200 Datenelemente

pht000053.v2.p2

1 Itemgruppe 34 Datenelemente

pht000049.v2.p2

1 Itemgruppe 25 Datenelemente

pht000050.v2.p2

1 Itemgruppe 81 Datenelemente

pht001038.v1.p2

1 Itemgruppe 2 Datenelemente

Measurement Instrument Database for the Social Science (MIDSS) - Assessment of Disruptive Symptoms: DSM-IV Version - For Teachers (ASD-IV-T)

- 29.09.20 - 1 Formular, 5 Itemgruppen, 36 Datenelemente, 1 Sprache
Itemgruppen: General Information, Instructions, child, child, child
Waschbusch, D. A., Sparkes, S. J., & Northern Partners in Action for Child and Youth Services. (2003). Assessment of Disruptive Symptoms: DSM-IV Version - For Teachers (ASD-IV-T). Measurement Instrument Database for the Social Science. Retrieved 27.09.2020, from www.midss.ie Key references: Waschbusch, D. A., Sparkes, S. J., & Northern Partners in Action for Child and Youth Services. (2003). Rating Scale Assessment of Attention-Deficit/Hyperactivity Disorder (ADHD) and Oppositional Defiant Disorder (ODD): Is there a Normal Distribution and Does it Matter? Journal of Psychoeducational Assessment, 21(261). DOI: 10.1177/073428290302100303 Primary use / Purpose: The Assessment of disruptive Symptoms-DSM-IV Version - For Teachers (ASD-IV-T) is a Likert scale developed to measure symptoms of Conduct Disorder (CD), Attention Deficit Hyperactivity Disorder (ADHD), and Oppositional Defiant Disorder (ODD). The ASD-IV-T, rather than giving simple yes/no diagnoses, can also measure the severity of the given disorder. Background: The Assessment of disruptive Symptoms-DSM-IV Version - For Teachers (ASD-IV-T) is designed to measure the level (i.e low, average, high) of disorders including Conduct Disorder (CD), Attention Deficit Hyperactivity Disorder (ADHD), and Oppositional Defiant Disorder (ODD). This sets it apart from scales which are only capable of making binary diagnoses. This scales ability to demarcate individuals with unusually low levels of characteristics belonging to these disorders -as opposed to high- is unique and has potential for varied usage. Psychometrics: The psychometric properties of the Assessment of disruptive Symptoms-DSM-IV Version - For Parents (ASD-IV-P) are discussed in Waschbusch, D. A., Sparkes, S. J., & Northern Partners in Action for Child and Youth Services. (2003). Digital Object Identifier (DOI): http://dx.doi.org/10.13072/midss.304

Measurement Instrument Database for the Social Science (MIDSS) - Assessment of Disruptive Symptoms: DSM-IV Parent Version

- 28.09.20 - 1 Formular, 8 Itemgruppen, 45 Datenelemente, 1 Sprache
Itemgruppen: General Information, Instructions, past six months child, behaviors causing problem at, past six months child, behaviors causing problem at, past six months child, behaviors causing problem at
Waschbusch, D. A., Sparkes, S. J., & Northern Partners in Action for Child and Youth Services. (2003). Assessment of Disruptive Symptoms: DSM-IV Parent Version. Measurement Instrument Database for the Social Science. Retrieved 27.09.2020, from www.midss.ie Key references: Waschbusch, D. A., Sparkes, S. J., & Northern Partners in Action for Child and Youth Services. (2003). Rating Scale Assessment of Attention-Deficit/Hyperactivity Disorder (ADHD) and Oppositional Defiant Disorder (ODD): Is there a Normal Distribution and Does it Matter? Journal of Psychoeducational Assessment, 21(261). DOI: 10.1177/073428290302100303 Primary use / Purpose: The Assessment of disruptive Symptoms-DSM-IV Version - For Parents (ASD-IV-P) is a Likert scale developed to measure symptoms of Conduct Disorder (CD), Attention Deficit Hyperactivity Disorder (ADHD), and Oppositional Defiant Disorder (ODD). The ASD-IV-P, Rather than giving simple yes/no diagnoses, can also measure the severity of the given disorder. Background: The Assessment of disruptive Symptoms-DSM-IV Version - For Parents (ASD-IV-P) is designed to measure the level (i.e low, average, high) of disorders including Conduct Disorder (CD), Attention Deficit Hyperactivity Disorder (ADHD), and Oppositional Defiant Disorder (ODD). This sets it apart from scales which are only capable of making binary diagnoses. This scales ability to demarcate individuals with unusually low levels of characteristics belonging to these disorders -as opposed to high- is unique and has potential for varied usage. Psychometrics: The psychometric properties of the Assessment of disruptive Symptoms-DSM-IV Version - For Parents (ASD-IV-P) are discussed in Waschbusch, D. A., Sparkes, S. J., & Northern Partners in Action for Child and Youth Services. (2003). Digital Object Identifier (DOI): http://dx.doi.org/10.13072/midss.303

Attention-Deficit/Hyperactivity Disorder Symptoms - Adult PhenX Toolkit

- 26.04.16 - 1 Formular, 1 Itemgruppe, 18 Datenelemente, 1 Sprache
Itemgruppe: PhenX - attention-deficit - hyperactivity disorder symptoms protocol - adult
The Adult Attention-Deficit Hyperactivity Disorder Self-Report Scale (ASRS-v1.1) Symptom Checklist is an 18-item, two-part questionnaire designed to determine if the participant exhibits Attention-deficit/hyperactivity disorder symptoms. ODM derived from: https://cde.nlm.nih.gov Primary source: https://www.phenxtoolkit.org/ Recent publication: Hendershot, T., Pan, H., Haines, J., Harlan, W.R., Marazita, M.L., McCarty, C.A., Ramos, E.M., and Hamilton, C.M. (2015) Using the PhenX toolkit to add standard measures to a study. Curr. Protoc. Hum. Genet. 86:1.21.1-1.21.17. doi: 10.1002/0471142905.hg0121s86 Permission to publish granted by Carol M. Hamilton.

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