Rachel Nicely

Date of Award

Spring 2022

Document Type

Open Access Thesis


Genetic Counseling

First Advisor

Amy Wardyn


Rett syndrome is a neurodevelopmental disorder that is inherited in an X-linked dominant manner due to pathogenic variants in the MECP2 gene that are almost always de novo. It is one of the most common causes of developmental delay and intellectual disability in females and occurs in about 1 in 10,000 females. While there is valuable literature surrounding the impact of a neurodevelopmental diagnosis on unaffected siblings, there are no articles about the impact of a disclosure of Rett syndrome to unaffected siblings and the needs of parents during this disclosure. This study aimed to examine the disclosure process from parent to unaffected sibling(s) about the diagnosis of Rett syndrome in their sister. Semi-structured interviews were used to explore the experiences of these families and needs of parents when discussing Rett syndrome with their unaffected children. We interviewed a parent from five different families and analyzed the conversations for prevalent themes. Four primary themes emerged: the diagnostic odyssey, the ongoing nature of conversations, the emotional nature of the disclosure process, and the significance of support and informational resources. While these parents expressed a difficult journey to the diagnosis of Rett syndrome, most of their unaffected children took the diagnosis in stride as they had always understood their sister had difficulties unlike themselves. There were a variety of emotions expressed by the unaffected siblings and a few resources were helpful in the families’ discussions, although there was little that directly addressed the nature of the condition related to the unaffected siblings. The results of this study were consistent with previous literature exploring the challenges that parents of children with neurodevelopmental disorders face and provided new insight into families specifically affected by Rett syndrome. These findings can begin to aid providers in facilitating familial conversations about the diagnosis of Rett syndrome.