Date of Award

Spring 2022

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Richard Ferrante

Abstract

Diagnosis of a child with fragile X syndrome (FXS) is associated with parental anxiety. Existing literature recommends FXS resources, but there has not been a formal assessment of when parents learn about these resources, or their satisfaction with them. Studies have demonstrated negative feelings surrounding the diagnostic experience of FXS. This exploratory analysis assessed the gap in knowledge on parental satisfaction of the recommended resources from healthcare providers during the time of diagnosis. We predicted parents would not be satisfied with the way resources were presented to them. We discussed parental satisfaction or dissatisfaction, utility of the recommended resources, and determined what resources parents independently identified as valuable for healthcare professionals and genetic counselors to recommend to families in the future.

Seven participants took an online questionnaire containing inclusion criteria and demographic type questions. Four of these participants partook in further focus group discussion (n = 3) or individual interview (n = 1) and discussed FXS resource satisfaction and preferences. The results were analyzed descriptively.

Overall, participants were not satisfied with the information and advice they received from providers at diagnosis. All participants expressed a need for more positive and balanced information about FXS. Parents primarily relied on information and support from national organizations like NFXF and FRAXA, Facebook groups, and national FXS conferences. Two participants were not given any informational or support resources at the time of diagnosis. Participants recommended that professionals educate families about specific resources at the time of diagnosis and provide actionable steps forward in an age-appropriate manner.

This study suggests parents would like the names of specific resources at diagnosis like national organizations, Facebook group names, local resources, and a way to connect with a parent who has already experienced a FXS diagnosis. Parents feel isolation and anxiety during a new diagnosis of their child, so it is important to emphasize positivity and that a group of providers, therapists, and the entire FXS community is there to support the family. Genetic counselors and providers should give age-appropriate recommendations so parents can continue to adjust and adapt to their child’s FXS diagnosis.

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