Genetic Counseling Program

Untitled Document

Knowledge, Understanding and Coping Strategies of Siblings of Children with 22q11.2 Deletion Syndrome.  By Rebecca A. Okashah

Capstone Project Committee: Kelly Schoch, MS, CGC (Duke), Chair; Nancy Callanan, MS, CGC (UNCG); Vandana Shashi, MD, MB, BS (Duke); and Scott Richter, PhD (UNCG), Statistical Consultant

Background: 22q11.2 deletions syndrome (22q11.2DS) is the most common microdeletion in humans.  There have been few studies assessing the impact of this condition on the family and no previous studies conducted on siblings of children with 22q11.2 deletion syndrome (22q11.2DS).  Purpose: The goal of this study was to assess knowledge, understanding and coping strategies of siblings of children with 22q11.2DS and to determine what information was being communicated by parents to unaffected siblings about this condition.  Methods:  Participants were recruited from several 22q11.2DS educational and support organizations and asked to complete a single anonymous online survey.  Families were eligible to participate if they had one child with 22q11.2DS and at least one unaffected child between the ages of 12 and 17. Survey questions were developed based on previous literature and authors’ expertise with patients with 22q11.2DS.  Coping strategies were assessed using the Coping Strategies Inventory (CSI) (Garcia, Franco, & Martinez, 2007). Frequencies and proportions were tabulated for quantitative questions.  Qualitative questions were analyzed for themes. Results:  A total of 28 parents and 25 siblings participated in the study.  Parents shared medical, behavioral and genetic information with 94.3%, 85.3% and 68.6% of siblings, respectively. Siblings scored relatively high on knowledge questions with the lowest scores being on questions related to the genetics of inheritance.  Siblings of children with 22q11.2DS have positive and negatives experiences in having a brother or sister with this condition. Cognitive restructuring, which modifies the meaning of a stressful situation, was the most commonly used coping strategy.  Conclusion: Genetics information is communicated less often by parents and the genetics of inheritance is least understood by siblings.  The experiences and coping strategies of siblings of children with 22q11.2DS is a varied and complex topic for which genetic counselors are well-suited to help families including sibling understand the 22q11.2DS diagnosis.

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  • "I chose to attend UNCG because of its shared learning environment and the access to some of the leading institutions in the country. "

  • "UNCG is a great fit for me. The program directors have extensive experience in the world of genetic counseling and provide you with opportunities to work with some of the best medical centers in the country. Our location allows us to have expert guest lecturers, many of whom you also get to work alongside or observe in your clinical rotations in your second year. We also have some really wonderful and unique opportunities as a part of this program: we observe in syndrome specific support groups and clinics, tour genetic laboratories, and are matched with a family with a genetic disease to learn what it is like to live with a genetic condition. Finally, our directors are genuinely invested in each of us, and care about our success and getting to know each of us personally."

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