Development of an Interview Guide to Assess Parental Disclosure of a 22q11 Deletion Syndrome Diagnosis to the Child as well as Informational and Support Needs
Capstone Project Committee: Sonja Eubanks, MS, CGC, Sat Gupta, PhD (Statistical Consultant), Susan Letvak, PhD, RN, Kelly Schoch, MS, CGC, Vandana Shashi, MD
Background: A microdeletion on chromosome 22 at position q11.2 is responsible for over 180 clinical features, and is often known as 22q11 deletion syndrome (22q11DS), or Velo-cardio-facial syndrome (VCFS), among other names. A variety of factors may shape how and when parents decide to disclose a diagnosis of 22q11DS to others, including the affected child. There are currently no publications regarding disclosure of a 22q11DS diagnosis to the child, what variables may influence this process, and what support caregivers may require for successful disclosure. The goal of this study was to design an interview guide to examine caregiver experience of informing children and others of the diagnosis. The guide aimed to provide insight into decisions regarding how and when information is shared. Methods: Eight semi-structured interviews were conducted with primary caregivers of children between 10 and 17 years of age diagnosed with 22q11DS. Results: Participants reported sharing information about the diagnosis with their families, school personnel, close friends, or others who they felt needed or deserved to know. Six out of eight participants had disclosed the diagnosis to the child by the time of interview. Those who had not informed the child were uncertain about what words to use, unsure about how to approach the conversation, or concerned about the child’s lack of understanding. After each interview, the guide was adjusted for future use. Conclusions: It is hoped that this tool will be helpful in eliciting how professionals may better assist caregivers in the process of disclosure.
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