Purpose-Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis.Methods-We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child's genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis, and the transcribed interviews were coded and sorted, and thematic categories identified.Results-61.5% of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow-up plans, and messages of hope and perspective during the session seemed to positively influence parents' experience, while feeling that their role was as a passive receiver of information and using difficult medical terminology negatively influenced parents' overall experience. Parental preparedness for the information, and the parents' emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor.Conclusion-Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session.

Genetic counseling can result in better outcomes when clients understand what to expect, and at least theoretically, at some point in their lifespan, anyone could be referred for or benefit from genetic counseling. Thus, in order to identify (and ultimately address) issues around awareness of genetic counseling and perceptions of its purpose, we surveyed the Canadian general population. We acquired 1000 telephone numbers corresponding to a demographically representative sample of Canada from Survey Sampling International, and invited individuals to participate in a telephone-based survey. We administered a purpose-designed survey (in either French or English) comprising questions regarding: demographics, whether or not the individual had heard of genetic counseling, and 15 Likert scale-rated (strongly disagree -strongly agree) items about the possible purposes of genetic counseling. Responses to these 15 items were used to generate a total "knowledge score". Of the 1000 numbers, n=372 could not be reached, and the survey was successfully administered to n=188 individuals (response rate 30%). Most respondents (n=129, 69%) had not heard of genetic counseling, and substantial proportions thought that genetic counseling aims to prevent genetic diseases and abnormalities, help couples have children with desirable characteristics, and help people to understand their ancestry. These data could be used to inform the strategy for development of future awareness efforts, and as a baseline from which to measure their effects.

Individuals with 22q11.2 deletion syndrome (22qDS) have a 25%–41% risk for a psychotic disorder. Although early intervention for psychiatric conditions leads to the best long‐term outcomes, healthcare providers often provide inadequate information about these issues and psychiatric services are underused by this population. We conducted semi‐structured interviews with parents of children with 22qDS a month after they received psychiatric genetic counseling (pGC), to evaluate outcomes and perceived value of pGC with respect to parents’ needs. Using grounded theory, we generated a theoretical framework of the process of building parental awareness of psychiatric risks associated with 22qDS and protective and management strategies for mental health (MH). Parents described how after their child's diagnosis with 22qDS, a variety of barriers stalled their building awareness of psychiatric risk and protective/management strategies: dealing with the immediate symptoms of 22qDS; child's young age; parental fear and stigma; and missing MH guidance. These barriers led them to carry the burden of worrying over missing emerging psychiatric symptoms and the stress over advocating for their child's MH. Parents indicated pGC was beneficial in that led them to achieve an ‘awareness to act,’ feeling confident in being alert and equipped to protect and/or manage their child's MH.

BackgroundSerious mental illness (SMI) is profoundly stigmatised, such that there is even an impact on relatives of people with SMI.AimsTo develop and validate a scale to comprehensively measure self-stigma among first-degree relatives of individuals with SMI.MethodWe conducted group interviews focusing on self-stigma with first-degree relatives (n = 20) of people with SMI, from which 74 representative quotations were reframed as Likert-type items. Cognitive interviews with relatives (n = 11) identified 30 items for the Self-Stigma in Relatives of people with Mental Illness (SSRMI) scale. Relatives (n = 195) completed the scale twice, a month apart, together with four external correlate scales.ResultsThe 30-item SSRMI was reliable, with scores stable over time. Its single-factor structure allowed generation of a 10-item version. Construct validity of 30- and 10-item versions was supported by expected relationships with external correlates.ConclusionsBoth versions of the SSRMI scale are valid and reliable instruments appropriate for use in clinical and research contexts.Declaration of interestNone.

Purpose-While women with a history of major depressive disorder (MDD) have higher chances for postpartum depressive and manic episodes, little is known about their chance for postpartum psychosis (PPP). We prospectively assessed the frequency of perinatal psychotic symptoms among primiparous women with a history of MDD only (structured clinical interview was used to exclude women with pre-existing histories of mania or psychosis), and explored whether sex of the baby influenced these symptoms.Methods-The presence of symptoms of psychosis was defined using previously established cutoff scores on five key items from the Positive and Negative Syndrome Scale (PANSS), which was administered during pregnancy, at 1 week, 1 month, and 3 months postpartum.Results-Fourteen of 60 women (23%) scored above threshold for psychosis at one or more time-points, with six experiencing postpartum onset. There was a non-significant trend (p = 0.073) towards higher frequency of these symptoms among mothers of girls.Conclusions-If controlled studies using diagnostic interviews confirm that psychotic symptoms are relatively common among women with MDD, monitoring for psychosis during the perinatal period may be indicated in this population. The potential effect of sex of the baby on mothers' chance for PPP requires further study.