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.