title: Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Emily
authors.initials: E
authors.lastname: Morris
authors.forename: Angela
authors.initials: A
authors.lastname: Inglis
authors.forename: Jan
authors.initials: J
authors.lastname: Friedman
authors.forename: Jehannine
authors.initials: J
authors.lastname: Austin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001294:Attitude to Health; D002170:Canada; D002648:Child; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000523:psychology*; D005260:Female; D005817:Genetic Counseling; D005826:Genetics, Medical; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000523:psychology*; D008875:Middle Aged; D010817:Physician-Patient Relations; D012307:Risk Factors; D011795:Surveys and Questionnaires; D014481:United States; D055815:Young Adult