Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project
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Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an increased chance of developing a psychiatric disorder. While parents of children affected by 22q11.2DS typically receive counseling about risk for non-psychiatric health concerns, genetic counselors may be reluctant to discuss psychiatric risk. Further education of genetic counselors may be necessary to encourage discussion of psychiatric risk with these families. The goal of this project was to develop recommendations for genetic counselors to provide psychiatric risk information to families affected by 22q11.2DS. The recommendations were developed by synthesizing resources in the literature about risk communication. These recommendations were refined following an online focus group meeting with five health care professionals who were recruited for participation from 22q11.2DS clinics across the U.S.A. The focus group data revealed three themes related to discussion of psychiatric risk: 1) Stepwise approach, 2) Discussing treatment options and reducing risks, and 3) Addressing stigma. These recommendations may be used as a foundation for a future clinical protocol to encourage discussion about the risk for psychiatric illness at an earlier point in the diagnostic process for 22q11.2DS and to provide improved information, support and resources to affected families.
KeywordsPsychiatric illness Mental illness 22q11.2 deletion syndrome Velocardiofacial syndrome Risk communication Schizophrenia Psychosis
This project was completed as a capstone experience report at the University of North Carolina at Greensboro. We thank the participants of the focus group, including Anne Bassett, Mindy Dodge, Bettsy Leech, and Elise Sannar, for their insightful and helpful comments on psychiatric risk communication in 22q11.2 deletion syndrome.
Compliance with Ethical Standards
Conflict of Interest
Authors Sarah J. Hart, Kelly Schoch, Vandana Shashi, and Nancy Callanan declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants for being included in the study. Additional informed consent was obtained from all participants for which identifying information is included in the acknowledgement section of this article.
No animal studies were carried out by the authors for this article.
- Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C., Goldenberg, P., Habel, A., et al. (2011). Practical guidelines for managing patients with 22q11.2 deletion syndrome. The Journal of Pediatrics, 159(2), 332–339.e331. doi: 10.1016/j.jpeds.2011.02.039.PubMedCentralCrossRefPubMedGoogle Scholar
- Baty, B. J. (2009). Risk communication and decision making. In W. R. Uhlmann, J. L. Schuette, & B. M. Yashar (Eds.), A guide to genetic counseling (2nd ed.). Hoboken: John Wiley & Sons.Google Scholar
- Costain, G., Chow, E. W., Ray, P. N., & Bassett, A. S. (2012). Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome. Journal of Intellectual Disability Research, 56(6), 641–651. doi: 10.1111/j.1365-2788.2011.01510.x.PubMedCentralCrossRefPubMedGoogle Scholar
- Day, E. N. (2003). Public attitudes toward mental illness: Development of an attitude assessment scale. Lawrence: University of Kansas.Google Scholar
- Finucane, B. (2010). Genetic counseling for women with intellectual disabilities. Genetic counseling practice: Advanced concepts and skills, Kindle version (Chapter 12).Google Scholar
- Fung, W. L. A., McEvilly, R., Fong, J., Silversides, C., Chow, E., & Bassett, A. (2010). Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. The American Journal of Psychiatry, 167(8), 998. doi: 10.1176/appi.ajp.2010.09101463.PubMedCentralCrossRefPubMedGoogle Scholar
- Gabbidon, J., Clement, S., van Nieuwenhuizen, A., Kassam, A., Brohan, E., Norman, I., et al. (2013). Mental Illness: Clinicians' Attitudes (MICA) scale-psychometric properties of a version for healthcare students and professionals. Psychiatry Research, 206(1), 81–87. doi: 10.1016/j.psychres.2012.09.028.CrossRefPubMedGoogle Scholar
- Hippman, C., Lohn, Z., Ringrose, A., Inglis, A., Cheek, J., & Austin, J. C. (2013). "Nothing is absolute in life": understanding uncertainty in the context of psychiatric genetic counseling from the perspective of those with serious mental illness. Journal of Genetic Counseling. doi: 10.1007/s10897-013-9594-2.PubMedCentralPubMedGoogle Scholar
- Krueger, R. A., & Casey, M. A. (2009). Focus groups: A practical guide for applied research (4th ed.). Thousand Oaks: SAGE Publications.Google Scholar
- Lautenbach, D. M., Hiraki, S., Campion, M. W., & Austin, J. C. (2012). Mothers' perspectives on their child's mental illness as compared to other complex disorders in their family: insights to inform genetic counseling practice. Journal of Genetic Counseling, 21(4), 564–572. doi: 10.1007/s10897-011-9420-7.PubMedCentralCrossRefPubMedGoogle Scholar
- Martin, N., Mikhaelian, M., Cytrynbaum, C., Shuman, C., Chitayat, D. A., Weksberg, R., et al. (2012). 22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness. Journal of Genetic Counseling, 21(6), 825–834. doi: 10.1007/s10897-012-9517-7.PubMedCentralCrossRefPubMedGoogle Scholar
- Maxwell, V. (2012). That's just crazy talk. DVD.Google Scholar
- Mental illness: Underlying causes and approaches for recovery. (2012). Retrieved 7/25/13, from http://www.nsgc.org/Default.aspx?TabId=146
- Schneider, M., Debbané, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., van den Bree, M. B. M., et al. (2014). Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. The American Journal of Psychiatry, 171(6), 627–639. doi: 10.1176/appi.ajp.2013.13070864.PubMedCentralCrossRefPubMedGoogle Scholar
- van den Bree, M. B., Miller, G., Mansell, E., Thapar, A., Flinter, F., & Owen, M. J. (2013). The internet is parents’ main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS). European Journal of Medical Genetics. doi: 10.1016/j.ejmg.2013.05.001.PubMedCentralPubMedGoogle Scholar