Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome
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ORIGINAL RESEARCH
Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome Rebecca Okashah & Kelly Schoch & Stephen R. Hooper & Vandana Shashi & Nancy Callanan
Received: 8 December 2013 / Accepted: 5 December 2014 # National Society of Genetic Counselors, Inc. 2014
Abstract 22q11.2 deletion syndrome (22q11DS) 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 unaffected siblings of children with 22q11DS. The goal of this study was to determine the frequency, method, and content of information being communicated by parents to unaffected siblings about the condition and to assess unaffected siblings’ knowledge of 22q11DS and perceptions of the impact of the condition on their affected sibling and themselves. Families were recruited from several 22q11DS educational and support organizations and asked to complete a single anonymous online survey. Families were eligible to participate if they had one child with 22q11DS 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 individuals with 22q11DS. Responses to quantitative and qualitative questions were analyzed to calculate frequencies and proportions and to extract themes, respectively. A total of 25 families (defined as a unit of at least one parent, one affected child, and at least one unaffected child) participated in the study. Parents shared genetic information less often as compared to behavioral and medical information. Siblings of children with 22q11DS had
R. Okashah (*) Department of Pediatrics, Children’s Hospital of San Antonio, 333 North Santa Rosa Street, San Antonio, TX 78207, USA e-mail: [email protected] K. Schoch : V. Shashi Department of Pediatrics, Duke University, Durham, NC, USA S. R. Hooper Department of Allied Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA N. Callanan University of North Carolina-Greensboro, Greensboro, NC, USA
both positive and negative experiences in having a brother or sister with this condition. Genetic counselors can use the results of this study to develop anticipatory guidance for parents of children with 22q11DS in talking with their unaffected children about the condition. Keywords 22q11.2 deletion syndrome . Sibling . Knowledge . Experiences . Information . Communication . Genetic counseling
Introduction 22q11.2 Deletion syndrome (22q11DS) is the most common microdeletion in humans, with an incidence of approximately 1 in 2000 (Shprintzen 2008). Clinical features are variable and include conotruncal cardiac anomalies, palatal defects, immunodeficiency, hypocalcemia, behavioral and/or psychiatric problems, and nearly universal developmental and/or learning disabilities (Bassett et al. 2011). Individuals with 22q11DS experience frequent medical problems in childhood, necessitating more hospitalizations and interven
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