title: Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12-year retrospective chart review.
abstract: Individuals with 22q11.2 deletion syndrome (22qDS) have increased risk for psychiatric disorders. However, while medical geneticists self-report discussing psychiatric features of 22qDS with families (though often only when the child is older), most parents of children with 22qDS report receiving information about the psychiatric manifestations of 22qDS from non-medical sources. In an attempt to reconcile these previous findings, we sought to objectively determine the frequency with which medical geneticists discuss the potential psychiatric manifestations of 22qDS: (i) in letters to referring physicians and (ii) with families, and to explore plans for follow-up. We abstracted data from charts of patients with 22qDS who were referred to a single medical genetics center between January 1, 2000 and December 31, 2012. Psychiatric disorders were discussed in consult letters to referring physicians for n = 57 (46%) of the 125 patients who met inclusion criteria-making them less frequently discussed than all other features of 22qDS. Despite exhaustive review of charts, the content of discussions with families was typically unclear. Follow-up in medical genetics was suggested for 50 people but only 18 (36%) of these patients returned. Disclosure of psychiatric features of 22qDS to families is necessary so that psychiatric disorders can be identified in time for early intervention to be implemented to achieve better prognosis for those affected. These empiric data offer some explanation as to why psychiatric services are underused by individuals with 22qDS.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Serena Talcott
authors.initials: ST
authors.lastname: Baughman
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.|Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Emily
authors.initials: E
authors.lastname: Morris
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Jensen
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.|Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Jehannine
authors.initials: J
authors.lastname: Austin
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D030541:Databases, Genetic; D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D030881:Disclosure / Q000706:statistics & numerical data*; D005260:Female; D005826:Genetics, Medical; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010290:Parents / Q000523:psychology; D011618:Psychotic Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D012189:Retrospective Studies; D057566:Self Report
keywords: Di-George; clinical genetics; psychiatric disorders; psychiatric illness; velo-cardiofacial syndrome