22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness |
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Authors: | Nicole Martin Marina Mikhaelian Cheryl Cytrynbaum Cheryl Shuman David A Chitayat Rosanna Weksberg Anne S Bassett |
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Institution: | 1. Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada 2. Signature Genomics Laboratories, Spokane, WA, USA 3. Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada 4. University of Toronto, Toronto, ON, Canada 5. Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada 8. Department of Pediatrics, Division of Clinical and Metabolic Genetics, Department of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada 6. Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada 7. 33 Russell Street, 1/F, Toronto, ON, Canada, M5S 2S1
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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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