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22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

22q11.2 Deletion Syndrome (22q11.2DS) is a common microdeletion syndrome with multisystem features. There is a strong association with psychiatric disorders. One in every four to five patients develop schizophrenia. Despite studies showing that early diagnosis and treatment are likely to lead to improved outcome, genetic counselors may be reluctant to discuss the risk of psychiatric illness. The aim of this research was to explore parental attitudes and genetic counselors’ perspectives and practice regarding disclosure of the clinical manifestations of 22q11.2DS, particularly the risk of psychiatric illness. We delivered a questionnaire to genetic counselors via established list-serves, 54 of which were completed. We also conducted interviews with four parents of adults with 22q11.2DS and schizophrenia. The majority of counselors and parents felt that the increased risk to develop a psychiatric illness is important to disclose. However, in the initial counseling session when the diagnosis was made in infancy genetic counselors were significantly less likely to discuss the risk of psychiatric disorders compared to other later onset features such as hypothyroidism (41 % vs. 83 %, p = 0.001). When the diagnosis of 22q11.2DS was made in infancy, counselors’ responses in regard to timing of disclosure about psychiatric illnesses were fairly evenly divided between infancy, childhood and adolescence. In contrast, for other major features of 22q11.2DS, disclosure would predominantly be in infancy. The respondents reported that the discussion of psychiatric issues with parents was challenging due to the stigma associated with mental illness. Some also noted limited knowledge about psychiatric illness and treatment. These results suggest that genetic counselors could benefit from further education regarding psychiatric illness in 22q11.2DS and best strategies for discussing this important subject with parents and patients.

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Acknowledgments

The authors thank all the participants in the study, and Monica Torsan and Gladys Wong for assistance with preparing the manuscript. This work was supported by a Canadian Institutes of Health Research grant (MOP-97800) a Canada Research Chair in Schizophrenia Genetics and Genomic Disorders (ASB), and Restracomp, Hospital for Sick Children.

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Authors and Affiliations

  1. Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada

    Nicole Martin

  2. Signature Genomics Laboratories, Spokane, WA, USA

    Marina Mikhaelian

  3. Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada

    Cheryl Cytrynbaum, Cheryl Shuman & Rosanna Weksberg

  4. University of Toronto, Toronto, ON, Canada

    Cheryl Shuman, David A. Chitayat, Rosanna Weksberg & Anne S. Bassett

  5. Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada

    David A. Chitayat

  6. Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada

    Anne S. Bassett

  7. 33 Russell Street, 1/F, Toronto, ON, Canada, M5S 2S1

    Anne S. Bassett

  8. Department of Pediatrics, Division of Clinical and Metabolic Genetics, Department of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada

    David A. Chitayat

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  1. Nicole Martin
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  2. Marina Mikhaelian
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  3. Cheryl Cytrynbaum
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  7. Anne S. Bassett
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Correspondence to Anne S. Bassett.

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Martin, N., Mikhaelian, M., Cytrynbaum, C. et al. 22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness. J Genet Counsel 21, 825–834 (2012). https://doi.org/10.1007/s10897-012-9517-7

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  • DOI: https://doi.org/10.1007/s10897-012-9517-7

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