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

Study Dates

2024

Last Modified

Tags



Publisher

PEDSnet

Abstract

Study 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.

Affiliation(s)

Nemours Children's Health System

Funder(s)

This research was made possible through the generous support of the National Institutes of Health .

Provenance

Description

PEDSnet 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

Development Code

Vocabulary

Clinical Subjects Headings

Diagnostic Techniques and Procedures
Clinical Decision-Making
Health Equity
Health Services Accessibility
Turner Syndrome
Disorders of Sex Development
Congenital Abnormalities
Noninvasive Prenatal Testing

Related Concept Set

Thumbnail Image
Turner Syndome
(2023-12-08) University of Colorado Anschutz Medical Campus; Children's Hospital Colorado; University of California, Los Angeles; Children's Hospital of Philadelphia; University of Washington; Nemours Children's Health System; Nationwide Children's Hospital; Colorado School of Public Health
Concept set to identify patients with Turner Syndrome.
Thumbnail Image
Congenital Cardiac Anomalies
(2024-09-23) Nemours Children's Health System
Concept set intended to identify patients with congenital cardiac anomalies for use in finding the rates of such co-morbidities.
Thumbnail Image
Turner Syndrome Co-Morbidities
(2024-07-17) Nemours Children's Health System
Concept set intended to identify co-morbidities of interest for a cohort of patients with Turner Syndrome.

Related Person

Related Data Quality Result

Related Person

Related Phenotype

Thumbnail Image
Turner Syndrome
(2024-07-10) Nemours Children's Health System
This phenotype was used to define a cohort of patients with Turner Syndrome (TS) for the "Investigating timing of diagnosis and equitable care in children with Turner syndrome" study run by Chijioke Ikomi. The cohort was used for analysis of diagnosis date by demographics, rurality, and pre/post changes in guidelines in 2017.

Related Study

Related Publications

Huang 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.
DOI: 10.1002/ajmg.a.63495

Creative Commons license

a CC-BY 4.0 Attribution license.
Except where otherwised noted, this item's license is described as a CC-BY 4.0 Attribution license.