Martin Nicole, Mikhaelian Marina, Cytrynbaum Cheryl, Shuman Cheryl, Chitayat David A, Weksberg Rosanna, Bassett Anne S
Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada.
J Genet Couns. 2012 Dec;21(6):825-34. doi: 10.1007/s10897-012-9517-7. Epub 2012 Jul 26.
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.
22q11.2缺失综合征（22q11.2DS）是一种常见的具有多系统特征的微缺失综合征。它与精神疾病密切相关。每四到五名患者中就有一人会患上精神分裂症。尽管研究表明早期诊断和治疗可能会改善预后，但遗传咨询师可能不愿讨论精神疾病的风险。本研究的目的是探讨父母的态度以及遗传咨询师对于披露22q11.2DS临床表现，特别是精神疾病风险的观点和做法。我们通过已有的邮件列表向遗传咨询师发放了问卷，共完成了54份。我们还对四名患有22q11.2DS和精神分裂症的成年人的父母进行了访谈。大多数咨询师和父母认为披露患精神疾病风险增加这一点很重要。然而，在婴儿期做出诊断的初次咨询 session 中，与其他后期出现的特征如甲状腺功能减退相比，遗传咨询师讨论精神疾病风险的可能性显著降低（41%对83%，p = 0.001）。当在婴儿期做出22q11.2DS诊断时，咨询师关于披露精神疾病的时间安排的回答在婴儿期、儿童期和青少年期之间分布较为均匀。相比之下，对于22q11.2DS的其他主要特征，披露主要在婴儿期。受访者表示，由于与精神疾病相关的污名，与父母讨论精神问题具有挑战性。一些人还指出对精神疾病和治疗的了解有限。这些结果表明，遗传咨询师可以从关于22q11.2DS中精神疾病的进一步教育以及与父母和患者讨论这一重要主题的最佳策略中受益。 （注：原文中“session”未明确准确中文释义，暂保留英文）
