Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

作者：Morris Emily; Inglis Angela; Friedman Jan; Austin Jehannine^*

来源：Genetics in Medicine, 2013, 15(9): 713-720.

DOI：10.1038/gim.2013.31

• 22q11.2 deletion syndrome
• medical geneticists
• mental illness
• psychiatric disorders
• stigma

Purpose: The aim of this study was to determine the frequency with which medical geneticists discuss the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS) with families in relation to the frequency with which they discuss the other manifestations of the syndromes and to explore relationships between discussion of these features and stigma toward psychiatric disorders.
Methods: We surveyed medical geneticists in the United States and Canada regarding the frequency with which they discuss various features of 22q11DS with families in the context of four clinical scenarios in which only the age of the patient at diagnosis differed. Respondents also completed a 20-item validated psychometric measure of stigma toward psychiatric disorders.
Results: 308 of 546 medical geneticists completed the survey (56% response rate). Overall, psychiatric disorders were discussed significantly less often than other features of 22q11DS (P < 0.0001) but were discussed significantly more often when the patient was 13 years or older (P < 0.0001) than when the patient was younger. Geneticists who discussed psychiatric disorders the least had significantly higher levels of stigma toward psychiatric disorders (P = 0.007).
Conclusion: Psychiatric manifestations of 22q11DS are less often discussed with families during childhood. Education for physicians to help reduce stigma toward psychiatric disorders (which may impede discussion of psychiatric disorders) may warrant exploration in this population.

• 出版日期2013-9