Electronic Theses and Dissertations

Date

2025

Document Type

Dissertation

Degree Name

Doctor of Philosophy

Department

Nursing

Committee Chair

Annapoorna Mary

Committee Member

Fawaz Mzayek

Committee Member

Kimbrough Oller

Committee Member

Lauren Schmitt

Committee Member

Yu Jiang

Abstract

Cascade screening, the systematic process of performing genetic screening in at-risk blood relatives of individuals who have been identified with specific genetic mutations, is vital to ensure that Fragile X Syndrome (FXS) is identified and diagnosed accurately and that early intervention services are provided to support the clinical symptoms associated with FXS. Cascade screening leads to identification of both male and female premutation carriers and those with full mutation FXS leading to early diagnosis, prompt treatment and awareness of potential medical, psychosocial, and/or neurodevelopmental issues, and improvement in the affected individual’s quality of life. Despite the clear clinical benefits of cascade screening, the process among families affected by FXS may bring up many concerns, and some of these concerns may be potential barriers that lead to the inability or refusal to participate in FXS cascade screening. These potential cascade screening barriers are likely biopsychosocial in nature and may consist of economic, psychological, social, geographical, communication, and education concerns. Unfortunately, the FXS cascade screening barriers encountered by these families are poorly studied, specifically for racial/ethnic minority family members. Therefore, the current study will use a quantitative, correlational, survey design methodology in order to reveal these specific barriers faced by racial/ethnic minority adults and, furthermore, identify which of these barriers leads to a lower reported decisional stage of FXS cascade screening. Identification of specific barriers faced by this group and this population’s readiness to engage with screening behavior is a critical step so that targeted interventions can be developed. Ultimately, a more targeted approach can more readily address inequities in access to FXS screening, and it assures the benefits of screening can be fully realized by all races and ethnicities.

Comments

Data is provided by the student.

Library Comment

PDF

Notes

Open access.

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