International Journal of Cardiology 178 (2015) 124–130
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International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard
Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning Gillian M. Blue a,b,c,1, Nadine A. Kasparian b,d,1, Gary F. Sholler a,b,c,1, Edwin P. Kirk d,e,1, David S. Winlaw a,b,c,⁎,1 a
Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia c Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Australia d Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, Australia e Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia b
a r t i c l e
i n f o
Article history: Received 11 September 2014 Accepted 21 October 2014 Available online 22 October 2014 Keywords: Congenital heart disease Genetic counselling Genetics education Intervention Guilt and shame Psychological stress
a b s t r a c t Background: One of the key questions asked by parents of children with congenital heart disease (CHD) is ‘why’ and ‘how did this happen?’. Receiving more information in response to these questions is therefore important to parents. This study sought to assess the efficacy of individualised genetic counselling sessions in improving knowledge of causation and psychosocial functioning in parents of children with CHD. Methods: Parents of children undergoing surgery for CHD were offered individualised genetic counselling during their child's hospital admission. Assessments occurred at three time-points (immediately pre-, immediately post-, and two months post-session) using questionnaires comprising a purpose-designed knowledge measure, as well as validated psychological measures. Results: Of the 94 participants approached, 57 attended the genetic counselling session (participation rate = 60.6%). Knowledge scores for the participants who completed all three questionnaires improved significantly from pre(x = 7.38/16, SD = 3.53) to post-session (x = 13.33/16, SD = 2.82) (p b 0.001). Participants retained this knowledge over time, with no changes in scores at two-month follow-up (p = 0.11). Perceived personal control also increased post-session, while reported guilt, shame, depression, anxiety and stress decreased. Overall satisfaction was high, with 96.4% of participants indicating they would recommend this service to other parents of children with CHD. Conclusion: Individualised genetic counselling sessions were highly beneficial to parents of children with CHD in regards to improving knowledge about the causes of CHD and enhancing psychosocial functioning, and should be considered as part of ‘best care’ practices. © 2014 Elsevier Ireland Ltd. All rights reserved.
1. Introduction Congenital heart disease (CHD) affects approximately 6–8 per 1000 live born infants [1]. It places a significant burden on families with an affected child at the time of cardiac surgery and throughout the years of ongoing treatment. Very little clinically applicable information is known about the aetiology of CHD. Segregation of CHD within families has long suggested a heritable component and current understanding implicates both genetic and environmental contributions to disease development [2]. A number of genes have been associated with both
⁎ Corresponding author at: Heart Centre for Children, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia. E-mail address: [email protected] (D.S. Winlaw). 1 This author takes responsibility for all aspects of the reliability and freedom from bias of the data presented and their discussed interpretation.
http://dx.doi.org/10.1016/j.ijcard.2014.10.119 0167-5273/© 2014 Elsevier Ireland Ltd. All rights reserved.
syndromic and non-syndromic forms of CHD; however, the cause(s) of the majority of cases, which occur as sporadic events, remains unknown [3]. Advances in genetic technologies, such as whole exome sequencing, are beginning to unravel the complex genetic architecture of abnormal heart development [4]; however, this information can be difficult for families to access and understand. In the past, the majority of cardiovascular genetic counselling has focused on arrhythmias and cardiomyopathies, with very little focus on structural CHD. This is primarily due to established causes and genetic testing options available for these groups of patients [5,6]. A key question asked by parents when their child is diagnosed with CHD is ‘why’ and ‘how did this happen?’. Receiving more information on possible causes, proposed models of inheritance, and individualised recurrence risks is therefore important to families. A recent study conducted by our group found that 73% of parents were of the opinion that receiving information about the genetic causes of CHD was important; however,
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only 36% could recall ever having received this information [7]. Another study found that 41% of patients with CHD desired more information on the inheritance of their structural heart defect [8]. Clearly, there is a need for improved patient education on the genetic aspects of CHD and this is not only from the patient or parent's perspective. Receiving accurate information regarding inheritance and recurrence risk estimates also has implications for health services. Patients with CHD who reach reproductive age should be made aware of the increased recurrence risks for future family planning, even if this risk is still relatively low for sporadic forms of disease [9–11]. Numerous studies have found a substantial lack of knowledge about CHD inheritance and recurrence risks amongst patients and their families. A study conducted by van Engelen et al. found that 56% of adults with CHD had incorrect information on transmitting CHD to their future children [8]. Another study found that 37% of women with CHD did not think their future children would be at an increased risk of having CHD [12], and a more recent study involving adolescents with CHD reported that 80% of participants had significant gaps in knowledge pertaining to hereditary aspects of CHD [13]. Aside from information provision, genetic counselling also offers psychosocial support to families. It is well documented that parents of children with CHD suffer from increased levels of hopelessness and distress, including depression, anxiety and somatisation [14–16]. Lawoko and Soares suggest that increased levels of parental distress and hopelessness may be due to prolonged feelings of guilt in regards to their child's heart condition [15]. Parental guilt can be associated with reduced self-esteem, self-blame and feelings of worthlessness which in turn can manifest as symptoms of depression or anxiety [17]. The supportive aspects of genetic counselling may assist in reducing levels of anxiety and guilt, particularly those associated with, or related to, the inheritance of CHD. In this study we assessed the efficacy of an individualised genetic counselling session developed specifically for parents of a child with CHD. We provided information about the causes and inheritance of CHD and supported parents in understanding and adjusting to this information, according to their personal circumstances. The specific aims of this study were therefore to: (1) assess parental knowledge of the hereditary aspects of CHD pre- and post-session; (2) assess psychosocial functioning, hypothesizing that the individualised genetic counselling sessions, would assist in alleviating anxiety and guilt, particularly in relation to inheritance; and (3) obtain feedback in regards to the format and content of the genetic counselling session for the potential future implementation of the intervention. 2. Materials and methods
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2.3. Genetic counselling session design The genetic counselling session was delivered by the genetic counsellor on an individual family basis in which either one or both parents attended. One hour was allocated per session. The content of the sessions was developed using current evidence from the literature in conjunction with expert consultation. The format was semi-structured, covering a set of key issues and tailoring information such as recurrence risk estimates, as well as the emotional support, to individual participants' needs. Key areas covered in the session included: • • • • • • • •
An overview of CHD incidence A detailed family history Information on chromosome, genes, DNA and mutations Possible genetic causes of CHD (including syndromic, multifactorial, familial) Environmental and teratogenic contributions Heterogeneity, variable expression, reduced penetrance Individualised recurrence risk estimates Genetic testing and research options.
A detailed outline of the genetic counselling session, including the resources used, is presented in ‘Supplementary Materials and Methods’ (Table S1). 2.4. Measures The survey was designed specifically to evaluate the effect of, and parents' response to, the genetic counselling session and was comprised of both purposely-designed and validated measures, as described below. 2.4.1. Demographic characteristics (11 items) Included items are about the participants as well as their families. Items also included clinical information about the child with CHD such as the STS-EACTS mortality score (which ranges from 0.1–5) associated with their child's surgical procedure. 2.4.2. Sources of genetics information (8 items) Participants were asked about the sources of information relating to the causes and inheritance aspects of CHD by rating statements as ‘Yes’, ‘No’ or ‘Unsure’. 2.4.3. Emotional aspects of having a child with CHD (7 items) To explore parents' feelings associated with having a child with CHD, participants were asked whether or not they agreed with a series of statements, rating ‘Yes’, ‘No’ or ‘Unsure’ on a range of issues. 2.4.4. Knowledge (16 items) To date there is no validated measure to assess parental knowledge on genetic factors and inheritance of CHD. For this reason a purposely-designed knowledge measure was created for this study by reviewing questionnaires created for similar studies [8,18]. It also enabled direct assessment of knowledge in regards to the information presented in the genetic counselling session. The final version of this measure consisted of 14 statements on genetic aspects of CHD which participants rated as either ‘True’, ‘False’ or ‘Unsure’, as well as two multiple choice items asking participants to indicate perceived recurrence risks. Higher scores were indicative of greater knowledge. Statements included ‘Most cases of CHD occur without a family history’ and ‘After having a child with CHD, the chance of having another child with CHD is higher’. Internal consistency of the individual items was high (Cronbach's α = 0.78). The knowledge measure was included in all three surveys.
2.1. Participants Participants included parents attending preadmission clinic prior to their child's elective cardiac surgery. Patients undergoing complex neonatal or emergency surgeries do not attend preadmission clinic and were therefore excluded from this study. Parents of children with a diagnosed genetic syndrome, or those who had previously been seen by a genetics professional were excluded as familiarity with genetic information could affect the analyses. Parents who did not have sufficient English language skills to take part without the aid of an interpreter were also ineligible. 2.2. Procedure Ethics approval (LNR/12/SCHN/191) and site specific approval (LNR/12/SCHN/365) was granted by the Sydney Children's Hospital Network Human Research Ethics Committee. For participation ease, and to ensure maximum recruitment potential, the study was aligned to the routine surgical process for patients undergoing elective cardiac surgery at The Children's Hospital at Westmead. Participants were approached about the study during preadmission clinic prior to their child's cardiothoracic surgery, at which time consent was obtained. Following surgery completion and discharge from the intensive care unit, a suitable time for the genetic counselling session was arranged a day or two prior to discharge from the hospital. Participants were asked to complete three questionnaires; one immediately prior to the session, immediately after the session, and approximately two months post-session. The timing of the follow-up questionnaire coincided with the patients' clinical or surgical follow-up appointments, at which point the participants were approached and handed the final questionnaire.
2.4.5. Perceived Personal Control — PPC (9 items) The PPC measure has been used to evaluate the benefit of genetic counselling in a number of published studies [19,20]. The PPC measure is designed for families with genetic conditions with a known cause and testing options; however, in the majority of CHD the cause is unknown and there are limited genetic testing options. For this reason, the PPC measure used in this study was modified slightly, but care was taken to ensure the cognitive, behavioural and decisional constructs were maintained. The PPC measure was included in all three surveys. 2.4.6. Personal Feelings Questionnaire — PFQ-2 (22 items) The PFQ-2 measures the degree of chronic guilt and shame experienced by an individual with six items relating to ‘guilt’, 10 to ‘shame’ and six additional ‘filler’ items. The PFQ-2 was included in the pre-session and follow-up surveys. 2.4.7. Depression, Anxiety and Stress Scale — DASS-21 (21 items) The DASS-21 is a measure of distress along three symptom clusters; depression, anxiety, and stress. Normative data, as well as clinical cut-offs, are available for this measure, increasing the value of this tool. The DASS-21 was included in the pre-session and followup surveys. Cronbach's α for baseline DASS-21, PFQ-2 as well as PPC scores in this sample were 0.87, 0.87 and 0.85 respectively. 2.4.8. Genetic Counselling Satisfaction Scale — GCSS (6 items) The GCSS is used to measure client satisfaction with the genetic counselling process. It is broadly applicable and has been used to assess satisfaction with genetic counselling in
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various settings [21,22]. Internal consistency of items was high with Cronbach's α = 0.88. The GCSS was included in the survey administered immediately after the session. 2.4.9. Perceptions of the genetic counselling session (16 items) Participants' perceptions of the format and content of the session, and the emotions that may have been evoked during the session, were assessed in the post-session survey.
genetic counselling session and those who did not in regards to the STS-EACTS mortality score of their child's procedure and the number of previous surgeries.
3.2. Demographic and clinical characteristics 2.5. Statistical analysis Data were analysed using the Statistical Package for the Social Sciences (SPSS Inc.) version 21. Descriptive statistics were used to analyse the demographic and clinical characteristics, as well as the sources of information, emotions related to having a child with CHD, and experiences relating to the genetic counselling session, including the GCSS score. Independent samples t-tests were used to assess for possible participation bias between parents who attended the genetic counselling session and those who did not. Friedman's ANOVA was used to compare the mean knowledge scores and PPC scores and Wilcoxon Signed Rank tests were performed to explore differences between the scores over time. Independent t-tests, and where appropriate, Mann–Whitney U tests as well as Spearman's correlations, were used to assess the relationship between demographic and clinical variables and pre-session, post-session and follow-up knowledge scores. To assess guilt and shame (PFQ-2 scores) and psychosocial distress (DASS-21 scores) over the two time points, Wilcoxon Signed Ranks tests were used. Where possible, Welch's t-test was used to compare findings from the present sample to normative data.
3. Results 3.1. Response rate and participation bias In total, 94 parents were approached for the study over a 10 month period, of which 86 parents consented yielding a response rate of 91.5%. Twenty-nine participants had to be removed from the study due to a number of logistic issues (e.g. patients being discharged over a weekend, unable to schedule a suitable time for the session), resulting in 57 participants attending the genetic counselling session (participation rate = 60.6%). Of these, 55 participants completed both pre- and postsession surveys, and 49 participants completing all three surveys. No participation bias was evident between parents who attended the
Table 1 Demographic characteristics of participants and clinical characteristics of their child with CHD. Variable
Numbers (N = 55)
Mean age (years) Relationship to child
34.1 (SD = 5.8; range = 25) 78.1% mother 21.9% father 76.4% Australia 23.6% other 88.9% married or in a committed relationship 3.7% never married (single) 7.4% separated / divorced University 14.5% postgraduate degree education 23.6% bachelor degree
Country of birth Marital statusa
Education
43.6% TAFE or college 5.5% year 12 9.1% year 10 or below 3.7% other Mean number of children Mean number of medical interventionsb Self-reported family history of CHD, including immediate and extended family Mean STS-EACTS Mortality Score Other medical conditions
Non-university education
2.2 (SD = 1.4; range = 8) 1.4 (SD = 0.76; range = 3) 29.1% yes 23.6% no 47.2% missing 0.4 (SD = 0.28; range = 1.4) 23.6% yesc 69.1% no 7.3% missing
CHD, congenital heart disease; SD, standard deviation; STS-EACTS, Society of Thoracic Surgeons European Association for Cardiothoracic Surgery; TAFE, Technical and Further Education. a Data missing for one participant. b Includes both surgeries and catheterizations. c Including developmental delay, exomphalos, hypospadias, scoliosis.
The demographic and clinical characteristics of the sample are summarised in Table 1. The majority of participants were mothers (78.1%); however, 14 sessions were attended by both parents, and in some cases, additional family members. The mean number of medical interventions (including surgery and catheterization) was 1.4 (SD = 0.76), and the mean STS-EACTS mortality score was 0.4, with a range from 0.1–1.5 (SD = 0.28).
3.3. Sources of information and parents' emotions Table 2 lists the sources of information accessed and parents' emotions associated with having a child with CHD. 32.7% (18/55) and 7.3% (4/55) of participants reported that they had received information on the causes of CHD and recurrence risk estimates, respectively, from a medical professional despite the majority of participants indicating they perceived this information as important and would like more information on this. Interestingly, 76.4% (42/55) of participants said they worry, or would worry, about future children having CHD, and 90.9% (50/55) said that more information on possible causes and inheritance may help reduce their concerns.
3.4. Knowledge Mean knowledge scores improved significantly from pre- (x = 7.38/ 16; SD = 3.53) to post-session (x = 13.33/16; SD = 2.82; p b 0.001). The knowledge gained post-session was retained over a 2 month period ( x = 12.78/16; SD = 2.70; p = 0.11). Fig. 1A illustrates the mean knowledge scores over the three time points. The greatest improvement in knowledge was found for recurrence risk estimates. Pre-session, post-session and follow-up knowledge scores were significantly higher in participants with a university education compared with participants who had not completed a university degree (p = 0.02, p = 0.05 and p = 0.01, respectively). No significant associations were found with the other demographic variables. In addition, pre-session DASS-Anxiety scores were significantly correlated with post-session knowledge scores, with greater anxiety associated with lower knowledge (r = −0.29; p = 0.03).
3.5. Psychosocial wellbeing Significant decreases in depression (p b 0.001), anxiety (p b 0.001), and stress (p b 0.001) were reported from pre-session to two months follow-up (see Table 3). The mean pre-session DASS-21 scores for stress (t(70) = 5.31; p b 0.001) and anxiety (t(67) = 2.03; p = 0.046) were significantly higher than Australian norms [23]; however, no differences were found for depression (t(104) = 0.21; p = 0.829) scores. In the follow-up DASS-21 scores, both depression (t(124) = 4.70; p b 0.001) and anxiety (t(88) = 3.24; p = 0.002) were significantly lower than Australian norms; however, mean stress scores (t(76) = 1.87; p = 0.07) were comparable. Guilt (p = 0.01) and shame (p b 0.001) also significantly decreased from pre-session to two-month follow-up. Mean perceived personal control scores significantly increased from pre-session ( x = 9.71; SD = 3.67) to post-session (x = 14.48; SD = 3.53; p b 0.001), and this increase was sustained two months post-session (p = 0.77; see Fig. 1B).
G.M. Blue et al. / International Journal of Cardiology 178 (2015) 124–130 Table 2 Sources of information on CHD causes and inheritance, as well as parents' thoughts and feelings about having a child with CHD collected pre-session (N = 55). Information about the causes of CHD…
Yes
No
Unsure
Received from medical professional Information from medical professional was usefula Received through own research or the Internet I would like more information Information on the causes of CHD is important
18 (32.7%) 29 (52.7%) 8 (14.6%) 11 (61.1%) 1 (5.5%) 6 (33.4%)
Information about recurrence risks (RR)…
Yes
32 (58.2%) 21 (38.2%) 2 (3.6%) 52 (94.5%) 52 (94.5%)
No
0 2 (3.6%)
Unsure
Received from medical professional Information from medical professional was usefulb Received through own research or the Internet I would like more information Information on RR is important
15 (27.3%) 38 (69.1%) 2 (3.6%) 52 (94.5%) 3 (5.5%) 54 (98.2%) 1 (1.8%)
0 0
Parental thoughts and feelings about CHD…
Yes
Unsure
I would like more emotional support
17 (30.9%) 25 (45.5%) 13 (23.6%) 35 (63.7) 2 (3.6%) 17 (30.9%) 42 (76.4%) 9 (16.3%) 3 (5.5%)
CHD just ‘happens’ and is no one's faultc I worry that my next child will also have CHDc More information on CHD causes may reduce worry I am not sure how to explain CHD causes to my child I need more information to explain CHD causes to my child
4 (7.3%) 4 (7.3%)
3 (5.5%) 1 (1.8%)
50 (90.9%)
46 (83.6%) 5 (9.1%) 0 0
No
1 (1.8%)
4 (7.3%)
28 (50.9%) 20 (36.4%) 7 (12.7%) 49 (89.1%)
6 (10.9%) 0
CHD, congenital heart disease; RR, recurrence risk. a N = 18 as this item was only answered by those who answered ‘Yes’ to the previous item. b N = 4 as this item was only answered by those who answered ‘Yes’ to the previous item. c Data missing for one participant.
3.6. Satisfaction with genetic counselling session Overall satisfaction with the genetic counselling session was good, with a mean GCSS score x = 26.13/30 (SD = 3.62). This is comparable to GCSS scores reported in other genetic counselling settings (t(105) = 1.03; p = 0.30). All 55 participants found the session ‘helpful’ with 53 saying they would recommend the session to other parents of children with CHD (see Table 4). Importantly, 58.2% said the session helped reduce feelings of guilt.
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4. Discussion In this study we assessed the efficacy of genetic counselling for parents of children with CHD. Participation in the genetic counselling session was associated with a significant improvement in knowledge, both immediately after the session and at the two month follow-up. This demonstrates the effectiveness of genetic counselling in the provision, uptake and retention of complex information amongst parents of children with CHD. While knowledge was higher amongst parents with a university degree at all assessment points, this is expected to a degree due to the complexity of the information. However, the overall mean scores significantly increased despite the majority of the study sample not having a university degree, indicating that the information was successfully tailored to meet the needs of parents with varying levels of education. Our findings also demonstrated that the timing of the genetic counselling session and the stress associated with their child's hospital admission, did not preclude information uptake and retention. We did, however, find a negative correlation between presession anxiety scores and post-session knowledge scores, indicating that anxiety may have hindered learning in some participants and suggesting a need for additional written materials to be provided to parents. Significant improvements were observed in both parental guilt and shame. The PFQ-2 is a measure of chronic guilt which can either be an enduring feature of one's personality originating in childhood (in which case it would not be expected to change rapidly) or it could stem from a guilt eliciting event. Studies have shown that by addressing the event, feelings of guilt can be significantly reduced [24]. In our study, feelings of guilt were identified and explored during discussions about the possible causes of CHD, with many participants admitting to feelings of self-blame. Immediately after the genetic counselling session, 58.2% of participants reported feeling ‘less guilty’ and made comments including, “I feel that although extremely difficult, dealing with my daughter's surgery has had some positive outcomes and feelings including meeting with [the genetic counsellor] which has resolved feelings of guilt to do with [my daughter's] condition which I have had for 7 years”. This suggests that genetic counselling was able to alleviate feelings of guilt associated with CHD in approximately two-thirds of participants. Prolonged feelings of guilt are distressing and, if unresolved, may manifest as symptoms of depression and anxiety [15]. Thus, addressing feelings of guilt could consequently have important psychological health implications, particularly in reducing these symptoms. In the present study, we found a significant improvement in parental depression, anxiety and stress two months after the genetic counselling session. According to clinical classifications of the DASS-21, 22%, 31% and 44% of participants' pre-session scores for depression, anxiety and stress, respectively, were indicative of a need for clinical intervention,
Fig. 1. (A) Mean knowledge scores over the three time points: pre-session, post-session and at the two month post-surgery follow-up appointments. (B) Mean PPC scores over the three time points: pre-session, post-session and at the two month post-surgery follow-up appointments. *** = p b 0.001; error bars = 95% confidence intervals.
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Table 3 Changes in psychological well-being over time (N = 55 for pre-session scores and N = 49 for follow-up scores).a Depression, Anxiety and Stress Scale — DASS-21 Subscales
Pre-sessionb mean (SD)
Follow-upb mean (SD)
Normsc mean (SD)
Clinical classification
Pre-session n (%)
Follow-up n (%)
Depression
2.64 (2.03)
1.27 (1.51)⁎⁎⁎
2.57 (3.86)
Anxiety
2.51 (2.65)
0.96 (1.44)⁎⁎⁎
1.74 (2.78)
Stress
6.82 (3.69)
3.22 (2.56)⁎⁎⁎
3.99 (4.24)
Normal Mild Moderate Severe Extremely severe Normal Mild Moderate Severe Extremely severe Normal Mild Moderate Severe Extremely severe
43 (78.2%) 11 (20%) 1 (1.8%) 0 0 38 (69.1%) 5 (9.1%) 9 (16.4%) 2 (3.6%) 1 (1.8%) 31 (56.4%) 14 (25.5%) 6 (10.9%) 4 (7.2%) 0
48 (98%) 1 (2%) 0 0 0 45 (91.8%) 3 (6.1%) 1 (2%) 0 0 47 (96%) 1 (2%) 1 (2%) 0 0
Personal Feelings Questionnaire — PFQ2 Subscales
Pre-session — mean (SD)
Follow-up — mean (SD)
Guilt Shame
5.91 (3.58) 9.31 (4.88)
4.37 (3.32)⁎⁎ 7.29 (4.25)⁎⁎⁎
Perceived personal control — PPC Pre-session — Mean (SD)
Post-session — Mean (SD)
Follow-up — Mean (SD)
9.71 (3.67)
14.48 (3.53)⁎⁎⁎
15.13 (2.89)
SD, standard deviation. ⁎⁎ p b 0.01. ⁎⁎⁎ p b 0.001. a For comparisons between pre-session versus follow-up scores and measures the sample size was 49, as six participants did not complete the final questionnaire. b Mean scores and SDs are presented as raw scores for the DASS-21. c Australian norms for the DASS-21 [23].
and mean pre-session stress and anxiety scores were higher than Australian norms. This is not surprising given the enormous amount of stress and anxiety experienced by parents at the time of their child's surgery [14,16]. Following the genetic counselling session, however, the proportion of participants' reporting symptoms indicative of a need for clinical intervention, decreased to 1%, 8% and 4% for depression, anxiety and stress, respectively. It is, however, important to consider that these improvements, could in part, also be associated with the timing of the assessments with the family returning to routine life at follow-up. In contrast, the significant increase in perceived personal control (PPC) scores found in the present study, can be directly attributed to the genetic counselling session, as these assessments occurred immediately prior to-, and immediately after, the session. The increased PPC scores, which were maintained at two months, suggest an improvement in parents' perceived personal control over their child's condition. Thoughts about the possible genetic contributions to disease can elicit feelings of uncertainty, inadequacy and hopelessness [25]. This can lead to individuals feeling as though they have lost control over the situation they find themselves in. Two key factors which enable people to regain this sense of lost control are searching for information and developing meaning in relation to the stressor. Understanding the cause of the condition, knowing what to expect and how to prepare for future obstacles or recurrences can restore a sense of control and promote better coping [25]. While, the amount of perceived control gained through genetic counselling depends on the nature of the disease and options available, the ability to directly influence the situation is not essential for coping; rather it is the extent to which a person perceives that he or she can manage the situation [26]. Thus, whilst parents of children with CHD are limited in terms of their options compared to other genetic conditions (i.e. limited genetic testing, empiric as opposed to definite recurrence risks), according to our findings, improving parents' understanding of the causes, preparing and planning for possible recurrences and addressing their concerns, may assist in restoring perceived control.
According to the American Heart Association, genetic counselling is recommended for adolescents with CHD as part of the transition to adult services [27]; however this study, along with our previous work [7], signifies the need for similar services to be made available in the paediatric setting. To date, genetic counselling for CHD is primarily offered to families with multiple affected members or those with known or suspected syndromic features. None of the children in this study had identified syndromes and the majority of the families participating in this study did not have a family history of CHD; however, significant benefits were observed in multiple domains following the genetic counselling session. Almost all participants said they would recommend the session to other parents of children with CHD, further highlighting the value of this service. Receiving information about ‘why’ and ‘how’ their child developed CHD is therefore of great value, even in families with sporadic forms of heart disease. Genetic counselling for CHD also has the potential to facilitate healthy, positive and informed discussions between parents and their children about the heritable aspects of CHD. This could have significant implications for children with CHD as they enter reproductive age in regards to future family planning. Only a third of parents could recall receiving information on the possible causes of their child's heart condition from a medical professional and even less could recall receiving information on recurrence risks. While these findings are concerning, it is important to consider potential recall bias. Participants may have received this information at the time of their child's diagnosis but for various reasons may no longer be able to recall this information. Furthermore, the timeframe for recall in this study was short (two months), whereas for some participants the time since their child's initial diagnosis, when similar information may have been provided, was longer. Nevertheless, previous studies recommend that discussions about possible causes of CHD be initiated in cardiology consultations [7]. Our findings support this recommendation, and while we provide information about possible causes of CHD on our website (http://www.heartcentreforchildren.com.au/how-did-this-
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Table 4 Participant responses relating to the genetic counselling session (N = 55). Information about GC session
Just right
Too short/little/easy
Too long/much/hard
Length of GC session Amount of information Level of information content
54 (98.2%) 53 (96.4%) 53 (96.4%)
1 (1.8%) 1 (1.8%) 1 (1.8%)
0 1 (1.8%) 1 (1.8%)
Information about GC session
Yes
No
Why/how much
Blank or n/a
GS session was helpful to me Better understanding of CHD Session satisfied my information needs Better equipped to talk to child Would recommend to other parents Pay for GC session Anger, worry, sadness during/after GC session Sense of relief during/after session Helped reduce feelings of guilt Parts needing more detail Parts to be left out Anything missing from session Comfortable to approach genetic counsellor
55 (100%) 55 (100%) 48 (87.3%) 54 (98.2%) 53 (96.4%) 30 (54.5%) 6 (10.9%)a 35 (63.7%) 32 (58.2%) 5 (9.1%) 0 7 (12.8%) 54 (98.1%)
0 0 6 (10.9%) 1 (1.8%) 1 (1.8%) 25 (45.5%) 48 (87.3%) 18 (32.7%) 4 (7.3%) 49 (89.1) 54 (98.2%) 46 (83.6%) 1 (1.8%)
n/a n/a ‘Want more info’ ‘Was ok with this already’ 1 (1.8%) Mean = $AUD64 ‘Potential to pass on’ ‘Less guilt, low risks’ n/a ‘Environmental’ ‘Feelings section’ ‘Info to take home’ ‘Time was an issue’
0 0 1 (1.8%) 0 0 0 1 (1.8%) 2 (3.6%) 19 (34.5%) 1 (1.8%) 1 (1.8%) 2 (3.6%) 0
CHD, congenital heart disease; GC, genetic counselling; n/a, not applicable. a Participants reported feeling sad and worried about the inheritance implications for their children.
happen-.html), this study provides additional evidence on the importance of genetic counselling for all families with CHD, both in terms of increasing knowledge about cardiac genetics and improving psychosocial wellbeing. It is well established that a holistic, multidisciplinary model of care is key in defining the quality of overall outcomes and satisfaction with treatment for CHD [28], and the findings of the present study support the incorporation of genetic counselling to further enhance patient and family experience. We therefore make the following recommendations: • Information on the causes and inheritance of CHD should be integrated into routine care, with information provided to parents of children with CHD as early as possible. • Families should be made aware of, and referred to, genetic counselling services should they desire detailed information about the causes of CHD and individualised recurrence risks. This is particularly important for families in which two or more family members are affected. • Genetic counsellors (and other health professionals) need to be mindful of the strong feelings of guilt and anxiety that parents may harbour and where possible, spend extra time applying appropriate skills to address these emotions. Where possible, written information should be provided to parents following genetic counselling.
5. Conclusions A single genetic counselling session, tailored specifically to the needs of parents of children with CHD appears to effectively address important and pervasive unmet needs in this group. Further, this study demonstrated significant improvements in, and retention of, genetics-related information on CHD, as well as significant improvements in psychosocial well-being amongst parents following the session delivered by a genetics specialist. Initiating discussions regarding the causes of CHD into routine cardiology practice and primary caregiver consultations, as well as referrals to genetic counselling services, are recommended as part of the holistic approach to care for families with familial and sporadic forms of CHD.
5.1. Limitations While this study excluded complex neonatal cases, exploring the efficacy of genetic counselling in families with more complex forms of CHD or in parents who receive a prenatal diagnosis of CHD, would be an important extension of these findings.
Conflict of interest The authors declare no conflict of interest. Acknowledgements We thank Ellen Smets for sharing the questionnaire she used in the study “Adults with congenital heart disease: Patients' knowledge and concerns about inheritance”. We also thank Elizabeth Barnes for her guidance regarding the statistical analyses applied to this study. Dr Kasparian is supported by a Career Development Fellowship from the National Health and Medical Research Council of Australia (NHMRC1049238). Appendix A. Supplementary data Supplementary data to this article can be found online at http://dx. doi.org/10.1016/j.ijcard.2014.10.119. References [1] J.I.E. Hoffman, Incidence of congenital heart disease: I. Postnatal incidence, Pediatr. Cardiol. 16 (1995) 103–113. [2] G.M. Blue, E.P. Kirk, G.F. Sholler, R.P. Harvey, D.S. Winlaw, Congenital heart disease: current knowledge about causes and inheritance, Med. J. Aust. 197 (2012) 155–159. [3] T. Andersen, K. Troelsen, L. Larsen, Of mice and men: molecular genetics of congenital heart disease, Cell. Mol. Life Sci. 71 (2014) 1327–1352. [4] S. Zaidi, M. Choi, H. Wakimoto, et al., De novo mutations in histone-modifying genes in congenital heart disease, Nature 498 (2013) 220–223. [5] C. Caleshu, S. Day, H.L. Rehm, S. Baxter, Use and interpretation of genetic tests in cardiovascular genetics, Heart 96 (2010) 1669–1675. [6] J. Cowan, A. Morales, J. Dagua, R.E. Hershberger, Genetic testing and genetic counselling in cardiovascular genetic medicine: overview and preliminary recommendations, Congest. Heart Fail. 14 (2008) 97–105. [7] N.A. Kasparian, B. Fidock, G.F. Sholler, et al., Parents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance, Genet. Med. 16 (2014) 460–468. [8] K. van Engelen, M.J.H. Baars, L.T. van Rongen, E.T. van der Velde, B.J.M. Mulder, E.M.A. Smets, Adults with congenital heart disease: patients' knowledge and concerns about inheritance, Am. J. Med. Genet. A 155 (2011) 1661–1667. [9] K.B. Coleman, Genetic counselling in congenital heart disease, Crit. Care Nurs. Q. 25 (2002) 8–16. [10] L. Burchill, S. Greenway, C. Silversides, S. Mital, Genetic counselling in the adult with congenital heart disease: what is the role? Curr. Cardiol. Rep. 13 (2011) 347–355. [11] K. Hoess, E. Goldmuntz, R. Pyeritz, Genetic counselling for congenital heart disease: new approaches for a new decade, Curr. Cardiol. Rep. 4 (2002) 68–75. [12] A.H. Kovacs, J.L. Harrison, J.M. Colman, M. Sermer, S.C. Siu, C.K. Silversides, Pregnancy and contraception in congenital heart disease: what women are not told, J. Am. Coll. Cardiol. 52 (2008) 577–578. [13] K. Van Deyk, E. Pelgrims, E. Troost, et al., Adolescents' understanding of their congenital heart disease on transfer to adult-focused care, Am. J. Cardiol. 106 (2010) 1803–1807.
130
G.M. Blue et al. / International Journal of Cardiology 178 (2015) 124–130
[14] S. Menahem, Z. Poulakis, M. Prior, Children subjected to cardiac surgery for congenital heart disease. Part 2 — parental emotional experiences, Interact. Cardiovasc. Thorac. Surg. 7 (2008) 605–608. [15] S. Lawoko, J.J.F. Soares, Distress and hopelessness among parents of children with congenital heart disease, parents of children with other diseases, and parents of healthy children, J. Psychosom. Res. 52 (2002) 193–208. [16] S. Lawoko, J.J.F. Soares, Psychosocial morbidity among parents of children with congenital heart disease: a prospective longitudinal study, Heart Lung 35 (2006) 301–314. [17] P. Barr, Guilt- and shame-proneness and the grief of perinatal bereavement, Psychol. Psychother. Theory Res. Pract. 77 (2004) 493–510. [18] P. Moons, E. De Volder, W. Budts, et al., What do adult patients with congenital heart disease know about their disease, treatment, and prevention of complications? A call for structured patient education, Heart 86 (2001) 74–80. [19] A. Davey, K. Rostant, K. Harrop, J. Goldblatt, P. O'Leary, Evaluating genetic counselling: client expectations, psychological adjustment and satisfaction with service, J. Genet. Couns. 14 (2005) 197–206. [20] A.H. Pieterse, M.G.E.M. Ausems, P. Spreeuwenberg, S. van Dulmen, Longer-term influence of breast cancer genetic counselling on cognitions and distress: smaller benefits for affected versus unaffected women, Patient Educ. Couns. 85 (2011) 425–431. [21] K.P. Tercyak, S.B. Johnson, S.F. Roberts, A.C. Cruz, Psychological response to prenatal genetic counselling and amniocentesis, Patient Educ. Couns. 43 (2001) 73–84.
[22] T.A. DeMarco, B.N. Peshkin, B.D. Mars, K.P. Tercyak, Patient satisfaction with cancer genetic counselling: a psychometric analysis of the genetic counselling satisfaction scale, J. Genet. Couns. 13 (2004) 293–304. [23] J. Crawford, C. Cayley, P.F. Lovibond, P.H. Wilson, C. Hartley, Percentile norms and accompanying interval estimates from an Australian general adult population sample for self-report mood scales (BAI, BDI, CRSD, CES-D, DASS, DASS-21, STAI-X, STAIY, SRDS, and SRAS), Aust. Psychol. 46 (2011) 3–14. [24] J.P. Tangney, R.L. Dearing, Shame and Guilt, Guilford Press, 2002. [25] S. Shiloh, M. Berkenstadt, N. Meiran, M. Bat-Miriam-Katznelson, B. Goldman, Mediating effects of perceived personal control in coping with a health threat: the case of genetic counselling 1, J. Appl. Soc. Psychol. 27 (1997) 1146–1174. [26] M. Berkenstadt, S. Shiloh, G. Barkai, M.B.-M. Katznelson, B. Goldman, Perceived personal control (PPC): a new concept in measuring outcome of genetic counselling, Am. J. Med. Genet. 82 (1999) 53–59. [27] C. Sable, E. Foster, K. Uzark, et al., Best practices in managing transition to adulthood for adolescents with congenital heart disease: the transition process and medical and psychosocial issues, Circulation 123 (2011) 1454–1485. [28] G. Wernovsky, 11th Annual William J. Rashkind Memorial Lecture in paediatric cardiology — a short history of progress: where we've been, where we are, where we're going, Cardiol. Young 22 (2012) 813–822.
Contents lists available at ScienceDirect
International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard
Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning Gillian M. Blue a,b,c,1, Nadine A. Kasparian b,d,1, Gary F. Sholler a,b,c,1, Edwin P. Kirk d,e,1, David S. Winlaw a,b,c,⁎,1 a
Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia c Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Australia d Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, Australia e Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia b
a r t i c l e
i n f o
Article history: Received 11 September 2014 Accepted 21 October 2014 Available online 22 October 2014 Keywords: Congenital heart disease Genetic counselling Genetics education Intervention Guilt and shame Psychological stress
a b s t r a c t Background: One of the key questions asked by parents of children with congenital heart disease (CHD) is ‘why’ and ‘how did this happen?’. Receiving more information in response to these questions is therefore important to parents. This study sought to assess the efficacy of individualised genetic counselling sessions in improving knowledge of causation and psychosocial functioning in parents of children with CHD. Methods: Parents of children undergoing surgery for CHD were offered individualised genetic counselling during their child's hospital admission. Assessments occurred at three time-points (immediately pre-, immediately post-, and two months post-session) using questionnaires comprising a purpose-designed knowledge measure, as well as validated psychological measures. Results: Of the 94 participants approached, 57 attended the genetic counselling session (participation rate = 60.6%). Knowledge scores for the participants who completed all three questionnaires improved significantly from pre(x = 7.38/16, SD = 3.53) to post-session (x = 13.33/16, SD = 2.82) (p b 0.001). Participants retained this knowledge over time, with no changes in scores at two-month follow-up (p = 0.11). Perceived personal control also increased post-session, while reported guilt, shame, depression, anxiety and stress decreased. Overall satisfaction was high, with 96.4% of participants indicating they would recommend this service to other parents of children with CHD. Conclusion: Individualised genetic counselling sessions were highly beneficial to parents of children with CHD in regards to improving knowledge about the causes of CHD and enhancing psychosocial functioning, and should be considered as part of ‘best care’ practices. © 2014 Elsevier Ireland Ltd. All rights reserved.
1. Introduction Congenital heart disease (CHD) affects approximately 6–8 per 1000 live born infants [1]. It places a significant burden on families with an affected child at the time of cardiac surgery and throughout the years of ongoing treatment. Very little clinically applicable information is known about the aetiology of CHD. Segregation of CHD within families has long suggested a heritable component and current understanding implicates both genetic and environmental contributions to disease development [2]. A number of genes have been associated with both
⁎ Corresponding author at: Heart Centre for Children, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia. E-mail address: [email protected] (D.S. Winlaw). 1 This author takes responsibility for all aspects of the reliability and freedom from bias of the data presented and their discussed interpretation.
http://dx.doi.org/10.1016/j.ijcard.2014.10.119 0167-5273/© 2014 Elsevier Ireland Ltd. All rights reserved.
syndromic and non-syndromic forms of CHD; however, the cause(s) of the majority of cases, which occur as sporadic events, remains unknown [3]. Advances in genetic technologies, such as whole exome sequencing, are beginning to unravel the complex genetic architecture of abnormal heart development [4]; however, this information can be difficult for families to access and understand. In the past, the majority of cardiovascular genetic counselling has focused on arrhythmias and cardiomyopathies, with very little focus on structural CHD. This is primarily due to established causes and genetic testing options available for these groups of patients [5,6]. A key question asked by parents when their child is diagnosed with CHD is ‘why’ and ‘how did this happen?’. Receiving more information on possible causes, proposed models of inheritance, and individualised recurrence risks is therefore important to families. A recent study conducted by our group found that 73% of parents were of the opinion that receiving information about the genetic causes of CHD was important; however,
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only 36% could recall ever having received this information [7]. Another study found that 41% of patients with CHD desired more information on the inheritance of their structural heart defect [8]. Clearly, there is a need for improved patient education on the genetic aspects of CHD and this is not only from the patient or parent's perspective. Receiving accurate information regarding inheritance and recurrence risk estimates also has implications for health services. Patients with CHD who reach reproductive age should be made aware of the increased recurrence risks for future family planning, even if this risk is still relatively low for sporadic forms of disease [9–11]. Numerous studies have found a substantial lack of knowledge about CHD inheritance and recurrence risks amongst patients and their families. A study conducted by van Engelen et al. found that 56% of adults with CHD had incorrect information on transmitting CHD to their future children [8]. Another study found that 37% of women with CHD did not think their future children would be at an increased risk of having CHD [12], and a more recent study involving adolescents with CHD reported that 80% of participants had significant gaps in knowledge pertaining to hereditary aspects of CHD [13]. Aside from information provision, genetic counselling also offers psychosocial support to families. It is well documented that parents of children with CHD suffer from increased levels of hopelessness and distress, including depression, anxiety and somatisation [14–16]. Lawoko and Soares suggest that increased levels of parental distress and hopelessness may be due to prolonged feelings of guilt in regards to their child's heart condition [15]. Parental guilt can be associated with reduced self-esteem, self-blame and feelings of worthlessness which in turn can manifest as symptoms of depression or anxiety [17]. The supportive aspects of genetic counselling may assist in reducing levels of anxiety and guilt, particularly those associated with, or related to, the inheritance of CHD. In this study we assessed the efficacy of an individualised genetic counselling session developed specifically for parents of a child with CHD. We provided information about the causes and inheritance of CHD and supported parents in understanding and adjusting to this information, according to their personal circumstances. The specific aims of this study were therefore to: (1) assess parental knowledge of the hereditary aspects of CHD pre- and post-session; (2) assess psychosocial functioning, hypothesizing that the individualised genetic counselling sessions, would assist in alleviating anxiety and guilt, particularly in relation to inheritance; and (3) obtain feedback in regards to the format and content of the genetic counselling session for the potential future implementation of the intervention. 2. Materials and methods
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2.3. Genetic counselling session design The genetic counselling session was delivered by the genetic counsellor on an individual family basis in which either one or both parents attended. One hour was allocated per session. The content of the sessions was developed using current evidence from the literature in conjunction with expert consultation. The format was semi-structured, covering a set of key issues and tailoring information such as recurrence risk estimates, as well as the emotional support, to individual participants' needs. Key areas covered in the session included: • • • • • • • •
An overview of CHD incidence A detailed family history Information on chromosome, genes, DNA and mutations Possible genetic causes of CHD (including syndromic, multifactorial, familial) Environmental and teratogenic contributions Heterogeneity, variable expression, reduced penetrance Individualised recurrence risk estimates Genetic testing and research options.
A detailed outline of the genetic counselling session, including the resources used, is presented in ‘Supplementary Materials and Methods’ (Table S1). 2.4. Measures The survey was designed specifically to evaluate the effect of, and parents' response to, the genetic counselling session and was comprised of both purposely-designed and validated measures, as described below. 2.4.1. Demographic characteristics (11 items) Included items are about the participants as well as their families. Items also included clinical information about the child with CHD such as the STS-EACTS mortality score (which ranges from 0.1–5) associated with their child's surgical procedure. 2.4.2. Sources of genetics information (8 items) Participants were asked about the sources of information relating to the causes and inheritance aspects of CHD by rating statements as ‘Yes’, ‘No’ or ‘Unsure’. 2.4.3. Emotional aspects of having a child with CHD (7 items) To explore parents' feelings associated with having a child with CHD, participants were asked whether or not they agreed with a series of statements, rating ‘Yes’, ‘No’ or ‘Unsure’ on a range of issues. 2.4.4. Knowledge (16 items) To date there is no validated measure to assess parental knowledge on genetic factors and inheritance of CHD. For this reason a purposely-designed knowledge measure was created for this study by reviewing questionnaires created for similar studies [8,18]. It also enabled direct assessment of knowledge in regards to the information presented in the genetic counselling session. The final version of this measure consisted of 14 statements on genetic aspects of CHD which participants rated as either ‘True’, ‘False’ or ‘Unsure’, as well as two multiple choice items asking participants to indicate perceived recurrence risks. Higher scores were indicative of greater knowledge. Statements included ‘Most cases of CHD occur without a family history’ and ‘After having a child with CHD, the chance of having another child with CHD is higher’. Internal consistency of the individual items was high (Cronbach's α = 0.78). The knowledge measure was included in all three surveys.
2.1. Participants Participants included parents attending preadmission clinic prior to their child's elective cardiac surgery. Patients undergoing complex neonatal or emergency surgeries do not attend preadmission clinic and were therefore excluded from this study. Parents of children with a diagnosed genetic syndrome, or those who had previously been seen by a genetics professional were excluded as familiarity with genetic information could affect the analyses. Parents who did not have sufficient English language skills to take part without the aid of an interpreter were also ineligible. 2.2. Procedure Ethics approval (LNR/12/SCHN/191) and site specific approval (LNR/12/SCHN/365) was granted by the Sydney Children's Hospital Network Human Research Ethics Committee. For participation ease, and to ensure maximum recruitment potential, the study was aligned to the routine surgical process for patients undergoing elective cardiac surgery at The Children's Hospital at Westmead. Participants were approached about the study during preadmission clinic prior to their child's cardiothoracic surgery, at which time consent was obtained. Following surgery completion and discharge from the intensive care unit, a suitable time for the genetic counselling session was arranged a day or two prior to discharge from the hospital. Participants were asked to complete three questionnaires; one immediately prior to the session, immediately after the session, and approximately two months post-session. The timing of the follow-up questionnaire coincided with the patients' clinical or surgical follow-up appointments, at which point the participants were approached and handed the final questionnaire.
2.4.5. Perceived Personal Control — PPC (9 items) The PPC measure has been used to evaluate the benefit of genetic counselling in a number of published studies [19,20]. The PPC measure is designed for families with genetic conditions with a known cause and testing options; however, in the majority of CHD the cause is unknown and there are limited genetic testing options. For this reason, the PPC measure used in this study was modified slightly, but care was taken to ensure the cognitive, behavioural and decisional constructs were maintained. The PPC measure was included in all three surveys. 2.4.6. Personal Feelings Questionnaire — PFQ-2 (22 items) The PFQ-2 measures the degree of chronic guilt and shame experienced by an individual with six items relating to ‘guilt’, 10 to ‘shame’ and six additional ‘filler’ items. The PFQ-2 was included in the pre-session and follow-up surveys. 2.4.7. Depression, Anxiety and Stress Scale — DASS-21 (21 items) The DASS-21 is a measure of distress along three symptom clusters; depression, anxiety, and stress. Normative data, as well as clinical cut-offs, are available for this measure, increasing the value of this tool. The DASS-21 was included in the pre-session and followup surveys. Cronbach's α for baseline DASS-21, PFQ-2 as well as PPC scores in this sample were 0.87, 0.87 and 0.85 respectively. 2.4.8. Genetic Counselling Satisfaction Scale — GCSS (6 items) The GCSS is used to measure client satisfaction with the genetic counselling process. It is broadly applicable and has been used to assess satisfaction with genetic counselling in
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various settings [21,22]. Internal consistency of items was high with Cronbach's α = 0.88. The GCSS was included in the survey administered immediately after the session. 2.4.9. Perceptions of the genetic counselling session (16 items) Participants' perceptions of the format and content of the session, and the emotions that may have been evoked during the session, were assessed in the post-session survey.
genetic counselling session and those who did not in regards to the STS-EACTS mortality score of their child's procedure and the number of previous surgeries.
3.2. Demographic and clinical characteristics 2.5. Statistical analysis Data were analysed using the Statistical Package for the Social Sciences (SPSS Inc.) version 21. Descriptive statistics were used to analyse the demographic and clinical characteristics, as well as the sources of information, emotions related to having a child with CHD, and experiences relating to the genetic counselling session, including the GCSS score. Independent samples t-tests were used to assess for possible participation bias between parents who attended the genetic counselling session and those who did not. Friedman's ANOVA was used to compare the mean knowledge scores and PPC scores and Wilcoxon Signed Rank tests were performed to explore differences between the scores over time. Independent t-tests, and where appropriate, Mann–Whitney U tests as well as Spearman's correlations, were used to assess the relationship between demographic and clinical variables and pre-session, post-session and follow-up knowledge scores. To assess guilt and shame (PFQ-2 scores) and psychosocial distress (DASS-21 scores) over the two time points, Wilcoxon Signed Ranks tests were used. Where possible, Welch's t-test was used to compare findings from the present sample to normative data.
3. Results 3.1. Response rate and participation bias In total, 94 parents were approached for the study over a 10 month period, of which 86 parents consented yielding a response rate of 91.5%. Twenty-nine participants had to be removed from the study due to a number of logistic issues (e.g. patients being discharged over a weekend, unable to schedule a suitable time for the session), resulting in 57 participants attending the genetic counselling session (participation rate = 60.6%). Of these, 55 participants completed both pre- and postsession surveys, and 49 participants completing all three surveys. No participation bias was evident between parents who attended the
Table 1 Demographic characteristics of participants and clinical characteristics of their child with CHD. Variable
Numbers (N = 55)
Mean age (years) Relationship to child
34.1 (SD = 5.8; range = 25) 78.1% mother 21.9% father 76.4% Australia 23.6% other 88.9% married or in a committed relationship 3.7% never married (single) 7.4% separated / divorced University 14.5% postgraduate degree education 23.6% bachelor degree
Country of birth Marital statusa
Education
43.6% TAFE or college 5.5% year 12 9.1% year 10 or below 3.7% other Mean number of children Mean number of medical interventionsb Self-reported family history of CHD, including immediate and extended family Mean STS-EACTS Mortality Score Other medical conditions
Non-university education
2.2 (SD = 1.4; range = 8) 1.4 (SD = 0.76; range = 3) 29.1% yes 23.6% no 47.2% missing 0.4 (SD = 0.28; range = 1.4) 23.6% yesc 69.1% no 7.3% missing
CHD, congenital heart disease; SD, standard deviation; STS-EACTS, Society of Thoracic Surgeons European Association for Cardiothoracic Surgery; TAFE, Technical and Further Education. a Data missing for one participant. b Includes both surgeries and catheterizations. c Including developmental delay, exomphalos, hypospadias, scoliosis.
The demographic and clinical characteristics of the sample are summarised in Table 1. The majority of participants were mothers (78.1%); however, 14 sessions were attended by both parents, and in some cases, additional family members. The mean number of medical interventions (including surgery and catheterization) was 1.4 (SD = 0.76), and the mean STS-EACTS mortality score was 0.4, with a range from 0.1–1.5 (SD = 0.28).
3.3. Sources of information and parents' emotions Table 2 lists the sources of information accessed and parents' emotions associated with having a child with CHD. 32.7% (18/55) and 7.3% (4/55) of participants reported that they had received information on the causes of CHD and recurrence risk estimates, respectively, from a medical professional despite the majority of participants indicating they perceived this information as important and would like more information on this. Interestingly, 76.4% (42/55) of participants said they worry, or would worry, about future children having CHD, and 90.9% (50/55) said that more information on possible causes and inheritance may help reduce their concerns.
3.4. Knowledge Mean knowledge scores improved significantly from pre- (x = 7.38/ 16; SD = 3.53) to post-session (x = 13.33/16; SD = 2.82; p b 0.001). The knowledge gained post-session was retained over a 2 month period ( x = 12.78/16; SD = 2.70; p = 0.11). Fig. 1A illustrates the mean knowledge scores over the three time points. The greatest improvement in knowledge was found for recurrence risk estimates. Pre-session, post-session and follow-up knowledge scores were significantly higher in participants with a university education compared with participants who had not completed a university degree (p = 0.02, p = 0.05 and p = 0.01, respectively). No significant associations were found with the other demographic variables. In addition, pre-session DASS-Anxiety scores were significantly correlated with post-session knowledge scores, with greater anxiety associated with lower knowledge (r = −0.29; p = 0.03).
3.5. Psychosocial wellbeing Significant decreases in depression (p b 0.001), anxiety (p b 0.001), and stress (p b 0.001) were reported from pre-session to two months follow-up (see Table 3). The mean pre-session DASS-21 scores for stress (t(70) = 5.31; p b 0.001) and anxiety (t(67) = 2.03; p = 0.046) were significantly higher than Australian norms [23]; however, no differences were found for depression (t(104) = 0.21; p = 0.829) scores. In the follow-up DASS-21 scores, both depression (t(124) = 4.70; p b 0.001) and anxiety (t(88) = 3.24; p = 0.002) were significantly lower than Australian norms; however, mean stress scores (t(76) = 1.87; p = 0.07) were comparable. Guilt (p = 0.01) and shame (p b 0.001) also significantly decreased from pre-session to two-month follow-up. Mean perceived personal control scores significantly increased from pre-session ( x = 9.71; SD = 3.67) to post-session (x = 14.48; SD = 3.53; p b 0.001), and this increase was sustained two months post-session (p = 0.77; see Fig. 1B).
G.M. Blue et al. / International Journal of Cardiology 178 (2015) 124–130 Table 2 Sources of information on CHD causes and inheritance, as well as parents' thoughts and feelings about having a child with CHD collected pre-session (N = 55). Information about the causes of CHD…
Yes
No
Unsure
Received from medical professional Information from medical professional was usefula Received through own research or the Internet I would like more information Information on the causes of CHD is important
18 (32.7%) 29 (52.7%) 8 (14.6%) 11 (61.1%) 1 (5.5%) 6 (33.4%)
Information about recurrence risks (RR)…
Yes
32 (58.2%) 21 (38.2%) 2 (3.6%) 52 (94.5%) 52 (94.5%)
No
0 2 (3.6%)
Unsure
Received from medical professional Information from medical professional was usefulb Received through own research or the Internet I would like more information Information on RR is important
15 (27.3%) 38 (69.1%) 2 (3.6%) 52 (94.5%) 3 (5.5%) 54 (98.2%) 1 (1.8%)
0 0
Parental thoughts and feelings about CHD…
Yes
Unsure
I would like more emotional support
17 (30.9%) 25 (45.5%) 13 (23.6%) 35 (63.7) 2 (3.6%) 17 (30.9%) 42 (76.4%) 9 (16.3%) 3 (5.5%)
CHD just ‘happens’ and is no one's faultc I worry that my next child will also have CHDc More information on CHD causes may reduce worry I am not sure how to explain CHD causes to my child I need more information to explain CHD causes to my child
4 (7.3%) 4 (7.3%)
3 (5.5%) 1 (1.8%)
50 (90.9%)
46 (83.6%) 5 (9.1%) 0 0
No
1 (1.8%)
4 (7.3%)
28 (50.9%) 20 (36.4%) 7 (12.7%) 49 (89.1%)
6 (10.9%) 0
CHD, congenital heart disease; RR, recurrence risk. a N = 18 as this item was only answered by those who answered ‘Yes’ to the previous item. b N = 4 as this item was only answered by those who answered ‘Yes’ to the previous item. c Data missing for one participant.
3.6. Satisfaction with genetic counselling session Overall satisfaction with the genetic counselling session was good, with a mean GCSS score x = 26.13/30 (SD = 3.62). This is comparable to GCSS scores reported in other genetic counselling settings (t(105) = 1.03; p = 0.30). All 55 participants found the session ‘helpful’ with 53 saying they would recommend the session to other parents of children with CHD (see Table 4). Importantly, 58.2% said the session helped reduce feelings of guilt.
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4. Discussion In this study we assessed the efficacy of genetic counselling for parents of children with CHD. Participation in the genetic counselling session was associated with a significant improvement in knowledge, both immediately after the session and at the two month follow-up. This demonstrates the effectiveness of genetic counselling in the provision, uptake and retention of complex information amongst parents of children with CHD. While knowledge was higher amongst parents with a university degree at all assessment points, this is expected to a degree due to the complexity of the information. However, the overall mean scores significantly increased despite the majority of the study sample not having a university degree, indicating that the information was successfully tailored to meet the needs of parents with varying levels of education. Our findings also demonstrated that the timing of the genetic counselling session and the stress associated with their child's hospital admission, did not preclude information uptake and retention. We did, however, find a negative correlation between presession anxiety scores and post-session knowledge scores, indicating that anxiety may have hindered learning in some participants and suggesting a need for additional written materials to be provided to parents. Significant improvements were observed in both parental guilt and shame. The PFQ-2 is a measure of chronic guilt which can either be an enduring feature of one's personality originating in childhood (in which case it would not be expected to change rapidly) or it could stem from a guilt eliciting event. Studies have shown that by addressing the event, feelings of guilt can be significantly reduced [24]. In our study, feelings of guilt were identified and explored during discussions about the possible causes of CHD, with many participants admitting to feelings of self-blame. Immediately after the genetic counselling session, 58.2% of participants reported feeling ‘less guilty’ and made comments including, “I feel that although extremely difficult, dealing with my daughter's surgery has had some positive outcomes and feelings including meeting with [the genetic counsellor] which has resolved feelings of guilt to do with [my daughter's] condition which I have had for 7 years”. This suggests that genetic counselling was able to alleviate feelings of guilt associated with CHD in approximately two-thirds of participants. Prolonged feelings of guilt are distressing and, if unresolved, may manifest as symptoms of depression and anxiety [15]. Thus, addressing feelings of guilt could consequently have important psychological health implications, particularly in reducing these symptoms. In the present study, we found a significant improvement in parental depression, anxiety and stress two months after the genetic counselling session. According to clinical classifications of the DASS-21, 22%, 31% and 44% of participants' pre-session scores for depression, anxiety and stress, respectively, were indicative of a need for clinical intervention,
Fig. 1. (A) Mean knowledge scores over the three time points: pre-session, post-session and at the two month post-surgery follow-up appointments. (B) Mean PPC scores over the three time points: pre-session, post-session and at the two month post-surgery follow-up appointments. *** = p b 0.001; error bars = 95% confidence intervals.
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Table 3 Changes in psychological well-being over time (N = 55 for pre-session scores and N = 49 for follow-up scores).a Depression, Anxiety and Stress Scale — DASS-21 Subscales
Pre-sessionb mean (SD)
Follow-upb mean (SD)
Normsc mean (SD)
Clinical classification
Pre-session n (%)
Follow-up n (%)
Depression
2.64 (2.03)
1.27 (1.51)⁎⁎⁎
2.57 (3.86)
Anxiety
2.51 (2.65)
0.96 (1.44)⁎⁎⁎
1.74 (2.78)
Stress
6.82 (3.69)
3.22 (2.56)⁎⁎⁎
3.99 (4.24)
Normal Mild Moderate Severe Extremely severe Normal Mild Moderate Severe Extremely severe Normal Mild Moderate Severe Extremely severe
43 (78.2%) 11 (20%) 1 (1.8%) 0 0 38 (69.1%) 5 (9.1%) 9 (16.4%) 2 (3.6%) 1 (1.8%) 31 (56.4%) 14 (25.5%) 6 (10.9%) 4 (7.2%) 0
48 (98%) 1 (2%) 0 0 0 45 (91.8%) 3 (6.1%) 1 (2%) 0 0 47 (96%) 1 (2%) 1 (2%) 0 0
Personal Feelings Questionnaire — PFQ2 Subscales
Pre-session — mean (SD)
Follow-up — mean (SD)
Guilt Shame
5.91 (3.58) 9.31 (4.88)
4.37 (3.32)⁎⁎ 7.29 (4.25)⁎⁎⁎
Perceived personal control — PPC Pre-session — Mean (SD)
Post-session — Mean (SD)
Follow-up — Mean (SD)
9.71 (3.67)
14.48 (3.53)⁎⁎⁎
15.13 (2.89)
SD, standard deviation. ⁎⁎ p b 0.01. ⁎⁎⁎ p b 0.001. a For comparisons between pre-session versus follow-up scores and measures the sample size was 49, as six participants did not complete the final questionnaire. b Mean scores and SDs are presented as raw scores for the DASS-21. c Australian norms for the DASS-21 [23].
and mean pre-session stress and anxiety scores were higher than Australian norms. This is not surprising given the enormous amount of stress and anxiety experienced by parents at the time of their child's surgery [14,16]. Following the genetic counselling session, however, the proportion of participants' reporting symptoms indicative of a need for clinical intervention, decreased to 1%, 8% and 4% for depression, anxiety and stress, respectively. It is, however, important to consider that these improvements, could in part, also be associated with the timing of the assessments with the family returning to routine life at follow-up. In contrast, the significant increase in perceived personal control (PPC) scores found in the present study, can be directly attributed to the genetic counselling session, as these assessments occurred immediately prior to-, and immediately after, the session. The increased PPC scores, which were maintained at two months, suggest an improvement in parents' perceived personal control over their child's condition. Thoughts about the possible genetic contributions to disease can elicit feelings of uncertainty, inadequacy and hopelessness [25]. This can lead to individuals feeling as though they have lost control over the situation they find themselves in. Two key factors which enable people to regain this sense of lost control are searching for information and developing meaning in relation to the stressor. Understanding the cause of the condition, knowing what to expect and how to prepare for future obstacles or recurrences can restore a sense of control and promote better coping [25]. While, the amount of perceived control gained through genetic counselling depends on the nature of the disease and options available, the ability to directly influence the situation is not essential for coping; rather it is the extent to which a person perceives that he or she can manage the situation [26]. Thus, whilst parents of children with CHD are limited in terms of their options compared to other genetic conditions (i.e. limited genetic testing, empiric as opposed to definite recurrence risks), according to our findings, improving parents' understanding of the causes, preparing and planning for possible recurrences and addressing their concerns, may assist in restoring perceived control.
According to the American Heart Association, genetic counselling is recommended for adolescents with CHD as part of the transition to adult services [27]; however this study, along with our previous work [7], signifies the need for similar services to be made available in the paediatric setting. To date, genetic counselling for CHD is primarily offered to families with multiple affected members or those with known or suspected syndromic features. None of the children in this study had identified syndromes and the majority of the families participating in this study did not have a family history of CHD; however, significant benefits were observed in multiple domains following the genetic counselling session. Almost all participants said they would recommend the session to other parents of children with CHD, further highlighting the value of this service. Receiving information about ‘why’ and ‘how’ their child developed CHD is therefore of great value, even in families with sporadic forms of heart disease. Genetic counselling for CHD also has the potential to facilitate healthy, positive and informed discussions between parents and their children about the heritable aspects of CHD. This could have significant implications for children with CHD as they enter reproductive age in regards to future family planning. Only a third of parents could recall receiving information on the possible causes of their child's heart condition from a medical professional and even less could recall receiving information on recurrence risks. While these findings are concerning, it is important to consider potential recall bias. Participants may have received this information at the time of their child's diagnosis but for various reasons may no longer be able to recall this information. Furthermore, the timeframe for recall in this study was short (two months), whereas for some participants the time since their child's initial diagnosis, when similar information may have been provided, was longer. Nevertheless, previous studies recommend that discussions about possible causes of CHD be initiated in cardiology consultations [7]. Our findings support this recommendation, and while we provide information about possible causes of CHD on our website (http://www.heartcentreforchildren.com.au/how-did-this-
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Table 4 Participant responses relating to the genetic counselling session (N = 55). Information about GC session
Just right
Too short/little/easy
Too long/much/hard
Length of GC session Amount of information Level of information content
54 (98.2%) 53 (96.4%) 53 (96.4%)
1 (1.8%) 1 (1.8%) 1 (1.8%)
0 1 (1.8%) 1 (1.8%)
Information about GC session
Yes
No
Why/how much
Blank or n/a
GS session was helpful to me Better understanding of CHD Session satisfied my information needs Better equipped to talk to child Would recommend to other parents Pay for GC session Anger, worry, sadness during/after GC session Sense of relief during/after session Helped reduce feelings of guilt Parts needing more detail Parts to be left out Anything missing from session Comfortable to approach genetic counsellor
55 (100%) 55 (100%) 48 (87.3%) 54 (98.2%) 53 (96.4%) 30 (54.5%) 6 (10.9%)a 35 (63.7%) 32 (58.2%) 5 (9.1%) 0 7 (12.8%) 54 (98.1%)
0 0 6 (10.9%) 1 (1.8%) 1 (1.8%) 25 (45.5%) 48 (87.3%) 18 (32.7%) 4 (7.3%) 49 (89.1) 54 (98.2%) 46 (83.6%) 1 (1.8%)
n/a n/a ‘Want more info’ ‘Was ok with this already’ 1 (1.8%) Mean = $AUD64 ‘Potential to pass on’ ‘Less guilt, low risks’ n/a ‘Environmental’ ‘Feelings section’ ‘Info to take home’ ‘Time was an issue’
0 0 1 (1.8%) 0 0 0 1 (1.8%) 2 (3.6%) 19 (34.5%) 1 (1.8%) 1 (1.8%) 2 (3.6%) 0
CHD, congenital heart disease; GC, genetic counselling; n/a, not applicable. a Participants reported feeling sad and worried about the inheritance implications for their children.
happen-.html), this study provides additional evidence on the importance of genetic counselling for all families with CHD, both in terms of increasing knowledge about cardiac genetics and improving psychosocial wellbeing. It is well established that a holistic, multidisciplinary model of care is key in defining the quality of overall outcomes and satisfaction with treatment for CHD [28], and the findings of the present study support the incorporation of genetic counselling to further enhance patient and family experience. We therefore make the following recommendations: • Information on the causes and inheritance of CHD should be integrated into routine care, with information provided to parents of children with CHD as early as possible. • Families should be made aware of, and referred to, genetic counselling services should they desire detailed information about the causes of CHD and individualised recurrence risks. This is particularly important for families in which two or more family members are affected. • Genetic counsellors (and other health professionals) need to be mindful of the strong feelings of guilt and anxiety that parents may harbour and where possible, spend extra time applying appropriate skills to address these emotions. Where possible, written information should be provided to parents following genetic counselling.
5. Conclusions A single genetic counselling session, tailored specifically to the needs of parents of children with CHD appears to effectively address important and pervasive unmet needs in this group. Further, this study demonstrated significant improvements in, and retention of, genetics-related information on CHD, as well as significant improvements in psychosocial well-being amongst parents following the session delivered by a genetics specialist. Initiating discussions regarding the causes of CHD into routine cardiology practice and primary caregiver consultations, as well as referrals to genetic counselling services, are recommended as part of the holistic approach to care for families with familial and sporadic forms of CHD.
5.1. Limitations While this study excluded complex neonatal cases, exploring the efficacy of genetic counselling in families with more complex forms of CHD or in parents who receive a prenatal diagnosis of CHD, would be an important extension of these findings.
Conflict of interest The authors declare no conflict of interest. Acknowledgements We thank Ellen Smets for sharing the questionnaire she used in the study “Adults with congenital heart disease: Patients' knowledge and concerns about inheritance”. We also thank Elizabeth Barnes for her guidance regarding the statistical analyses applied to this study. Dr Kasparian is supported by a Career Development Fellowship from the National Health and Medical Research Council of Australia (NHMRC1049238). Appendix A. Supplementary data Supplementary data to this article can be found online at http://dx. doi.org/10.1016/j.ijcard.2014.10.119. References [1] J.I.E. Hoffman, Incidence of congenital heart disease: I. Postnatal incidence, Pediatr. Cardiol. 16 (1995) 103–113. [2] G.M. Blue, E.P. Kirk, G.F. Sholler, R.P. Harvey, D.S. Winlaw, Congenital heart disease: current knowledge about causes and inheritance, Med. J. Aust. 197 (2012) 155–159. [3] T. Andersen, K. Troelsen, L. Larsen, Of mice and men: molecular genetics of congenital heart disease, Cell. Mol. Life Sci. 71 (2014) 1327–1352. [4] S. Zaidi, M. Choi, H. Wakimoto, et al., De novo mutations in histone-modifying genes in congenital heart disease, Nature 498 (2013) 220–223. [5] C. Caleshu, S. Day, H.L. Rehm, S. Baxter, Use and interpretation of genetic tests in cardiovascular genetics, Heart 96 (2010) 1669–1675. [6] J. Cowan, A. Morales, J. Dagua, R.E. Hershberger, Genetic testing and genetic counselling in cardiovascular genetic medicine: overview and preliminary recommendations, Congest. Heart Fail. 14 (2008) 97–105. [7] N.A. Kasparian, B. Fidock, G.F. Sholler, et al., Parents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance, Genet. Med. 16 (2014) 460–468. [8] K. van Engelen, M.J.H. Baars, L.T. van Rongen, E.T. van der Velde, B.J.M. Mulder, E.M.A. Smets, Adults with congenital heart disease: patients' knowledge and concerns about inheritance, Am. J. Med. Genet. A 155 (2011) 1661–1667. [9] K.B. Coleman, Genetic counselling in congenital heart disease, Crit. Care Nurs. Q. 25 (2002) 8–16. [10] L. Burchill, S. Greenway, C. Silversides, S. Mital, Genetic counselling in the adult with congenital heart disease: what is the role? Curr. Cardiol. Rep. 13 (2011) 347–355. [11] K. Hoess, E. Goldmuntz, R. Pyeritz, Genetic counselling for congenital heart disease: new approaches for a new decade, Curr. Cardiol. Rep. 4 (2002) 68–75. [12] A.H. Kovacs, J.L. Harrison, J.M. Colman, M. Sermer, S.C. Siu, C.K. Silversides, Pregnancy and contraception in congenital heart disease: what women are not told, J. Am. Coll. Cardiol. 52 (2008) 577–578. [13] K. Van Deyk, E. Pelgrims, E. Troost, et al., Adolescents' understanding of their congenital heart disease on transfer to adult-focused care, Am. J. Cardiol. 106 (2010) 1803–1807.
130
G.M. Blue et al. / International Journal of Cardiology 178 (2015) 124–130
[14] S. Menahem, Z. Poulakis, M. Prior, Children subjected to cardiac surgery for congenital heart disease. Part 2 — parental emotional experiences, Interact. Cardiovasc. Thorac. Surg. 7 (2008) 605–608. [15] S. Lawoko, J.J.F. Soares, Distress and hopelessness among parents of children with congenital heart disease, parents of children with other diseases, and parents of healthy children, J. Psychosom. Res. 52 (2002) 193–208. [16] S. Lawoko, J.J.F. Soares, Psychosocial morbidity among parents of children with congenital heart disease: a prospective longitudinal study, Heart Lung 35 (2006) 301–314. [17] P. Barr, Guilt- and shame-proneness and the grief of perinatal bereavement, Psychol. Psychother. Theory Res. Pract. 77 (2004) 493–510. [18] P. Moons, E. De Volder, W. Budts, et al., What do adult patients with congenital heart disease know about their disease, treatment, and prevention of complications? A call for structured patient education, Heart 86 (2001) 74–80. [19] A. Davey, K. Rostant, K. Harrop, J. Goldblatt, P. O'Leary, Evaluating genetic counselling: client expectations, psychological adjustment and satisfaction with service, J. Genet. Couns. 14 (2005) 197–206. [20] A.H. Pieterse, M.G.E.M. Ausems, P. Spreeuwenberg, S. van Dulmen, Longer-term influence of breast cancer genetic counselling on cognitions and distress: smaller benefits for affected versus unaffected women, Patient Educ. Couns. 85 (2011) 425–431. [21] K.P. Tercyak, S.B. Johnson, S.F. Roberts, A.C. Cruz, Psychological response to prenatal genetic counselling and amniocentesis, Patient Educ. Couns. 43 (2001) 73–84.
[22] T.A. DeMarco, B.N. Peshkin, B.D. Mars, K.P. Tercyak, Patient satisfaction with cancer genetic counselling: a psychometric analysis of the genetic counselling satisfaction scale, J. Genet. Couns. 13 (2004) 293–304. [23] J. Crawford, C. Cayley, P.F. Lovibond, P.H. Wilson, C. Hartley, Percentile norms and accompanying interval estimates from an Australian general adult population sample for self-report mood scales (BAI, BDI, CRSD, CES-D, DASS, DASS-21, STAI-X, STAIY, SRDS, and SRAS), Aust. Psychol. 46 (2011) 3–14. [24] J.P. Tangney, R.L. Dearing, Shame and Guilt, Guilford Press, 2002. [25] S. Shiloh, M. Berkenstadt, N. Meiran, M. Bat-Miriam-Katznelson, B. Goldman, Mediating effects of perceived personal control in coping with a health threat: the case of genetic counselling 1, J. Appl. Soc. Psychol. 27 (1997) 1146–1174. [26] M. Berkenstadt, S. Shiloh, G. Barkai, M.B.-M. Katznelson, B. Goldman, Perceived personal control (PPC): a new concept in measuring outcome of genetic counselling, Am. J. Med. Genet. 82 (1999) 53–59. [27] C. Sable, E. Foster, K. Uzark, et al., Best practices in managing transition to adulthood for adolescents with congenital heart disease: the transition process and medical and psychosocial issues, Circulation 123 (2011) 1454–1485. [28] G. Wernovsky, 11th Annual William J. Rashkind Memorial Lecture in paediatric cardiology — a short history of progress: where we've been, where we are, where we're going, Cardiol. Young 22 (2012) 813–822.
