Investigating timing of diagnosis and equitable care in children with Turner syndrome

PEDSNet data will be 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 will be 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:
– 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?
– Is there an association between age at diagnosis of Turner syndrome and race, ethnicity, and socio-economic status?
– Our central hypothesis is that the age at diagnosis of children with Turner syndrome is related to the implementation of NIPT, treatment guidelines and key socioeconomic factors.
Aims
– Aim 1: Identify key factors and temporal changes associated with age at and indication for diagnosis of TS following updated guidelines
– Aim 2: Describe the association of race, ethnicity and insurance status to age at diagnosis of TS