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

Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12‐year retrospective chart review

“…These findings are broadly consistent with recent studies showing that both genetic counselors and medical geneticists self-report disclosing psychiatric manifestations of 22qDS less often than other manifestations of the condition [Martin et al, 2012;Morris et al, 2013]. Medical geneticists have also previously self-reported feeling that follow-up appointments were a more appropriate time to discuss psychiatric features of 22qDS than at initial diagnosis, when families may be overwhelmed with information [Morris et al, 2013]. When visualizing data relating to communications between medical geneticists and referring physicians, a subtle trend toward increased frequency of disclosure of psychiatric features of 22qDS with age of patient seemed possible (Fig.…”

“…We found no support for the hypotheses that the psychiatric manifestations would be discussed more over time (comparing 2000-2002 to 2010-2012) and/or with increasing age of the patient. Though medical geneticists have previously self-reported that they more frequently discuss psychiatric disorders at appointments when the affected individual is an adolescent or an adult as compared to when the patient is a child [Morris et al, 2013], our objective data did not support this. "emotional disturbances"), psychiatric features of 22qDS were the only manifestations of the condition that were more likely to be omitted from rather than mentioned in consult reports to referring physicians.…”

“…"emotional disturbances"), psychiatric features of 22qDS were the only manifestations of the condition that were more likely to be omitted from rather than mentioned in consult reports to referring physicians. Though it is of course possible that the practice of the medical geneticists at the clinic we studied here is divergent from the practice of medical geneticists who responded to the previous self-report survey, or that the self-report study was affected by social desirability bias, the only other way of reconciling our data with those of Morris et al [2013] is to assume that when medical geneticists self-report discussing this feature more often with adolescents or adults, they are implicitly referring to discussion of psychiatric illness in an already-symptomatic patient. These findings are broadly consistent with recent studies showing that both genetic counselors and medical geneticists self-report disclosing psychiatric manifestations of 22qDS less often than other manifestations of the condition [Martin et al, 2012;Morris et al, 2013].…”

“…In a separate study, the most frequently reported source of information about psychiatric manifestations was the internet [van den Bree et al, 2013]. In a 2013 study, medical geneticists (the group of healthcare professionals who are most often involved in diagnosing 22qDS [Hercher and Bruenner, 2008]) self-reported discussing potential psychiatric manifestations of the syndrome with families, but often only at follow-up appointments, when the child is older and of an age where these issues are perceived to be more relevant [Morris et al, 2013]. These conflicting sets of data suggest different potential explanations.…”

“…We hypothesized that in families where the child with 22qDS was not already experiencing psychiatric problems, medical geneticists would more frequently discuss the potential for these problems to arise: (i) within the timeframe 2010-2012 as compared to 2000-2002 and (ii) in the context of adolescent/adult (!12 years of age) as compared to pediatric (<12 years of age) patients. We expected psychiatric features of the syndrome to be more frequently discussed with the families of older patients based on medical geneticists' self-report in previous studies [Morris et al, 2013]. We selected the earlier of the two time frames to capture clinical practice shortly after the association of psychiatric issues with the condition-initially reported in the early 1990s-started gaining traction [Murphy et al, 1999].…”