Date of Award

6-30-2016

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Crystal Hill-Chapman

Abstract

Fragile X syndrome (FXS) is a genetic condition with varied presentation that may include intellectual and learning disabilities, behavioral and learning challenges, and certain physical characteristics. When an individual is affected with FXS, it often leads to complex discussions within the family, including parental disclosure of a FXS diagnosis to a child. This study explored how a FXS diagnosis is communicated between a parent and their child diagnosed with FXS. An online questionnaire was disseminated through FXS organizations and support groups to parents who have at least one child diagnosed with FXS. The online questionnaire was supplemented by eight brief telephone interviews. Qualitative analysis was conducted on eighty-three responses. Parents commonly practiced resilient communication while providing age and developmentally appropriate information at a level their child was able to understand. Though parents would focus on how their child was different from others to explain FXS, they also used affected family members and other FXS families as examples to prevent their child from feeling isolated by the diagnosis. Parents worried that their child would not understand or that the information provided would have a negative effect on the child’s emotional being. Resources were not often used, but parents expressed a desire for a children’s book written specifically for children with FXS as well as easier access to input from other FXS families and healthcare professionals. Awareness and understanding of this experience will allow genetic counselors to provide appropriate education, support, resources, and referrals to ensure successful communication between a parent and child.

Rights

© 2016, Barbara Alyxandra Athens

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