Investigating Timing of Diagnosis and Equitable Care in Children with Turner Syndrome

Simple item page
dc.contributorNational Institutes of Health
dc.contributor.authorIkomi, Chijioke
dc.contributor.otherNemours Children's Health System
dc.date.accessioned2024-10-25T21:12:01Z
dc.descriptionPEDSnet data is used to identify temporal changes in timing of diagnosis following updated Turner syndrome guidelines in 2017, in addition to association of race, ethnicity and insurance status to timing of diagnosis. Existing dataset of children with Turner syndrome diagnosis between 2010 and 2023 is analyzed. A computable phenotype for Turner syndrome within this dataset has been validated and published. Data includes demographics, diagnostic information, laboratory values, medications and co-morbidities. Data will be presented as de-identified raw data or summary statistics. Research Questions investigated during the course of this study include: 1. Have early diagnosis rates improved with increased recommendation of noninvasive prenatal testing (NIPT) and following the most recent clinical practice guidelines for the care of girls and women with Turner syndrome published in 2017? 2. Is there an association between age at diagnosis of Turner syndrome and race, ethnicity, and socio-economic status? #### Hypothesis The age at diagnosis of children with Turner syndrome is related to the implementation of NIPT, treatment guidelines and key socioeconomic factors. #### Study Aims 1. Identify key factors and temporal changes associated with age at and indication for diagnosis of TS following updated guidelines 2. Describe the association of race, ethnicity and insurance status to age at diagnosis of TS
dc.description.abstractStudy to determine if diagnosis rates of Turner syndrome have improved since 2017 with increased recommendation of noninvasive prenatal testing (NIPT) and to investigate the association between age at diagnosis of Turner syndrome and race, ethnicity, and socio-economic status.
dc.identifier.urihttps://pedsnet.org/metadata/handle/20.500.14642/846
dc.publisherPEDSnet
dc.relationTurner Syndome
dc.relationCongenital Cardiac Anomalies
dc.relationTurner Syndrome Co-Morbidities
dc.relation.isreferencedbyHuang SD, Bamba V, Bothwell S, Fechner PY, et al. April 2024. "Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network." _Am J Med Genet A_. 194(4):e63495. <br>DOI: [10.1002/ajmg.a.63495](doi.org/10.1002/ajmg.a.63495)
dc.rightsa CC-BY 4.0 Attribution license.
dc.rights.urihttps://creativecommons.org/licenses/by-sa/4.0/
dc.subjectStudy::Investigator-Led Study
dc.subject.meshDiagnostic Techniques and Procedures
dc.subject.meshClinical Decision-Making
dc.subject.meshHealth Equity
dc.subject.meshHealth Services Accessibility
dc.subject.meshTurner Syndrome
dc.subject.meshDisorders of Sex Development
dc.subject.meshCongenital Abnormalities
dc.subject.meshNoninvasive Prenatal Testing
dc.titleInvestigating Timing of Diagnosis and Equitable Care in Children with Turner Syndrome
dspace.entity.typeStudy
local.admin.notehttps://atlassian.chop.edu/jira/browse/PMO-888
local.subject.flatPEDSnet Data Source
local.subject.flatInvestigator-Led Study
local.subject.flatFederally Funded Research
project.startDate2024
relation.isConceptSetOfStudy33ec3afb-3c6d-4fad-8574-44eb6f3d500b
relation.isConceptSetOfStudyd96285aa-fd1c-4516-b823-7a30eafa7ec6
relation.isConceptSetOfStudy34868a2e-fb42-449b-86ae-0cb72eb5afbf
relation.isConceptSetOfStudy.latestForDiscovery33ec3afb-3c6d-4fad-8574-44eb6f3d500b
relation.isOrgUnitOfStudy50ee736e-2446-4251-bb74-8cb2b0e6f54d
relation.isOrgUnitOfStudy.latestForDiscovery50ee736e-2446-4251-bb74-8cb2b0e6f54d
relation.isPhenotypeOfStudy2e09f2e7-a569-4998-ae09-4c5d7abfbf0d
relation.isPhenotypeOfStudy.latestForDiscovery2e09f2e7-a569-4998-ae09-4c5d7abfbf0d

Files

Domains

PEDSnet Designated Studies
Computable Phenotype Development