Shab Mireskandari

Attitudes to Genetic Testing in Families with Multiple Cases of Bipolar Disorder

OBJECTIVES This study assesses interest in genetic testing for gene variations associated with bipolar disorder and associated information needs. METHODS Two hundred individuals (95 unaffected and 105 affected with either bipolar disorder, schizoaffective disorder--manic type, or recurrent major depression) from families with multiple cases of bipolar disorder were assessed, using mailed, self-administered questionnaires. RESULTS The percentage of participants reporting interest in genetic testing was associated with the degree of certainty with which any test would indicate the development of bipolar disorder. Interest in genetic testing, given a 25% lifetime risk scenario, was lowest (with 77% of participants indicating interest), and highest for the 100% lifetime risk scenario (92%). Eighty percent of participants indicated interest in genetic testing of their own children; of these 30% reported wanting their children tested at birth, and 33% in early childhood. Forty-one percent of participants reported that they would be interested in preimplantation genetic diagnosis, and 54% in prenatal testing. LIMITATIONS The possibility of ascertainment bias cannot be ruled out. Interest in hypothetical genetic testing for bipolar disorder may not necessarily translate into actual utilization. CONCLUSIONS These results indicate that uptake of genetic testing for genotyping for low-risk alleles related to bipolar disorder is likely to be lower than for testing for high-penetrance gene mutations that follow Mendelian inheritance. The discrepancy between the desired age of testing children and the accepted current practice may be a source of distress and conflict for parents and health professionals alike.

The Acceptability, Feasibility, and Efficacy (Phase I/II Study) of the OVERcome (Olive Oil, Vaginal Exercise, and MoisturizeR) Intervention to Improve Dyspareunia and Alleviate Sexual Problems in Women with Breast Cancer

INTRODUCTION Almost half of breast cancer survivors experience chronic sexual problems. Despite the negative effects of dyspareunia on physical and overall quality of life, sexual dysfunction remains underreported and undertreated in clinical practice. This is likely due to the paucity of evidence-based interventions to improve sexual functioning. AIM The study aims to prospectively evaluate the acceptability, feasibility, and efficacy of a novel intervention (Olive Oil, Vaginal Exercise, and MoisturizeR [OVERcome]) to improve sexual problems following breast cancer treatment. MAIN OUTCOME MEASURES Dyspareunia, sexual functioning, quality of life, distress, and pelvic floor muscles (PFMs) functioning were evaluated. METHODS Twenty-five women with dyspareunia were instructed to perform pelvic floor muscle (PFM) relaxation exercises twice/day to prevent/manage PFM overactivity, apply a polycarbophil-based vaginal moisturizer three times/week to alleviate vaginal dryness, use olive oil as a lubricant during intercourse, and complete a weekly compliance diary. PFM relaxation training was administered by a physiotherapist at weeks 0 and 4, with follow-up at weeks 12 and 26. At each visit, women completed validated self-report questionnaires and the physiotherapist recorded objective measures of PFM functioning. RESULTS OVERcome resulted in significant improvements in dyspareunia, sexual function, and quality of life over time (all P<0.001). PFM relaxation training was reported to be effective (P≤0.001). Maximum benefits were observed at week 12. Most women rated PFM relaxation exercises (92%), vaginal moisturizer (88%), and olive oil (73%) as helpful, indicating that the intervention was acceptable. Unexpectedly, six cases (11%) of vaginal stenosis were noted during initial screening. CONCLUSIONS This novel intervention is acceptable to patients with demonstrated efficacy in improving dyspareunia and sexual function following breast cancer. Delivery of the OVERcome intervention appears feasible in a clinical setting, providing a potential treatment for this important clinical issue. The unexpected number of observed cases of stenosis further highlights the underreporting of sexual problems in this population, deserving further exploration.

The struggle towards ‘the New Normal’: a qualitative insight into psychosexual adjustment to prostate cancer

BackgroundDespite the growing body of literature which highlights the potential for significant and enduring side-effects of prostate cancer treatment, there is limited research exploring the experience of living with the treatment-induced side-effects such as sexual dysfunction, and their repercussions for men and their partners. The aim of this qualitative study was to explore factors influencing psychosexual adjustment, self-perception, and unmet information and support needs of prostate cancer patients and their partners.MethodsTwenty-one men, recruited via a prostate cancer support group newsletter, participated in face-to-face semi-structured interviews, which were subjected to thematic analysis.ResultsThe qualitative analysis revealed three inter-connected main themes which contributed to men’s psychosexual adjustment: i) Psychosexual impact, ii) Communication and support, and iii) Integration process. Men reported distressing sexual and urinary difficulties, tainted self-perception and altered intimate relationships. Receiving adequate information and support, and having good communication with their doctors and partners facilitated better adjustment to prostate cancer treatment. Coming to terms with the significant impact of treatment had involved making lifestyle changes, coping with emotional struggles and striving to accept and integrate their post-treatment “new normal” self and sexual life.ConclusionsThe importance of adequate communication with health professionals and partners, especially regarding treatment effects on sexual function and rehabilitation options, was highlighted as a key factor facilitating the adjustment process. Prostate cancer patients would benefit from improved access to timely and tailored information and decision-making resources, ongoing multidisciplinary care, and support groups, as well as appropriate referrals for sexual and psychological counselling.

Psychoeducational Intervention to Reduce Fear of Cancer Recurrence in People at High Risk of Developing Another Primary Melanoma: Results of a Randomized Controlled Trial

Purpose People with a history of melanoma commonly report a fear of cancer recurrence (FCR), yet psychologic support is not routinely offered as part of ongoing melanoma care. This randomized controlled trial examined the efficacy of a psychoeducational intervention to reduce FCR and improve psychologic adjustment in this patient group compared with usual care. Methods The intervention comprised a newly developed psychoeducational resource and three telephone-based psychotherapeutic sessions over a 1-month period timed in accordance with dermatologic appointments. Participants were randomly assigned to intervention (n = 80) or usual care (n = 84). Assessments were completed at baseline, 1 month, and 6 months after dermatologic appointments. Linear mixed models were used to examine differences between treatment and control groups for patient-reported outcomes, including FCR, anxiety, stress, depression, melanoma-related knowledge, health behaviors, satisfaction with melanoma care, unmet needs, and health-related quality of life. Results At 6 months, the intervention group reported lower FCR severity, trigger, and distress scores than the control group in the baseline-adjusted models; the between-group mean difference was -1.9 for FCR severity (95% CI, -3.1 to -0.7; P = .002), -2.0 for FCR triggers (95% CI, -3.3 to -0.7; P = .003), and -0.7 for FCR distress (95% CI, -1.3 to -0.1; P = .03). The decrease in FCR severity (but not triggers or distress) remained statistically significant after adjustment for other covariates ( P = .04). At 6 months, the intervention group also reported lower stress (-1.6; 95% CI, -3.1 to -0.2; P = .03) and improved melanoma-related knowledge (1.7; 95% CI, 0.8 to 2.6; P < .001) compared with the control group. No differences were found between groups for other secondary outcomes. Conclusion This newly developed evidence-based psychoeducational intervention was effective in reducing FCR and stress and increasing melanoma-related knowledge in people at high risk for another melanoma.

Psychological adjustment among male partners in response to women's breast/ovarian cancer risk: a theoretical review of the literature.

Objective: For women at high risk of developing hereditary breast and/or ovarian cancer the process of undergoing genetic testing is anxiety provoking and stressful, entailing difficult and complex decisions. Partners of high‐risk women are frequently perceived by the women as a source of support during this challenging time. Utilising Self Regulatory Theory, this paper provides a theoretically guided overview of existing data to delineate how partners respond emotionally and behaviourally to the womans high‐risk status.

Psychosocial Impact of Familial Adenomatous Polyposis on Young Adults: A Qualitative Study

The aim of this study was to explore in detail the psychosocial impact of either having familial adenomatous polyposis (FAP) or being at risk for FAP amongst young adults. In-depth interviews were conducted with eleven individuals aged 18–35 with a clinical or genetic diagnosis of, or at risk of developing FAP. While being at risk did not seem to have a major psychosocial impact upon clinically unaffected participants, clinically affected individuals discussed a number of major stressors including issues in relation to changes in body image and physical functioning as a result of surgery, concerns about discussing FAP with new partners, difficulties in relation to childbearing decision-making, and impact on employment. Genetic counseling was described as being highly effective in providing support, but most participants were not aware of any other support services. Providing longer-term support through ongoing genetic counseling appears necessary to adequately address the ongoing challenges faced by young adults who are dealing with FAP.

Predictors of relationship adjustment among couples coping with a high risk of developing breast/ovarian cancer

This study investigated the association between supportive and collaborative processes and dyadic adjustment in 94 women at increased risk of breast/ovarian cancer and their partners. Participants were recruited through two familial cancer clinics. They completed mailed, self-report questionnaires that included measures of psychological distress, dyadic adjustment (consensus, cohesion and satisfaction) and couple predictor variables (perceived support and team approach). Most couples reported average-to-high levels of consensus, cohesion and satisfaction, with a small proportion of couples (6.4%) reporting scores that reached clinically significant levels of dyadic distress. Greater perceived support was associated with better dyadic consensus and satisfaction, and dyadic cohesion and satisfaction were higher among couples who reported greater use of a team approach. General distress did not moderate the association between dyadic coping and relationship quality. There were no significant relationships between intra-couple congruence on support or team approach, and dyadic adjustment. Most couples had a functional relationship in the face of the current health stressor, although a subgroup may be at elevated risk of negative psychological consequences, including further relationship strain. The results highlight that dyadic coping strategies are important factors involved in the quality of couples’ relationship following genetic counselling for breast/ovarian cancer risk.

“I might not have cancer if you didn’t mention it”: a qualitative study on information needed by culturally diverse cancer survivors

BackgroundImmigrants from culturally and linguistically diverse (CALD) backgrounds diagnosed with cancer face multiple challenges with health systems foreign to them. There is scarce understanding about their needs following cancer treatment in the survivorship phase. Unmet needs were examined in immigrant Chinese and Greek cancer survivors in order to assist development of relevant and useful information resources for these CALD groups.MethodsQualitative descriptive design was used. Adult cancer survivors, whose native language was Mandarin, Cantonese or Greek, were recruited through ethnic cancer support groups and cancer specialists in two Australian cities. Six focus groups were conducted, two in each native language group. Recorded responses were transcribed, translated into English, and thematically analysed.ResultsThirty-nine CALD cancer survivors participated from Greek (11), Cantonese (14) and Mandarin (14) backgrounds. Thematic findings included as follows: ongoing cancer-related stressors, cancer misunderstandings, coping strategies, ‘survivor’ seldom reflects self-appraisal, and additional CALD survivorship information needed. Immigrant cancer survivors may prefer ‘recovery’ to ‘survivorship’ descriptors and need information similar to Caucasian cancer survivors alongside as follows: resources for navigating health care, financial and community entitlements; caregiver-directed information to enhance their support; explanations about differences in health care approaches between survivors’ original and adopted countries; and acknowledgment of survivorship diversity within CALD groups.ConclusionsImmigrant cancer survivors’ additional requirements to native survivors likely reflect challenges in dealing with foreign environments and varied levels of acculturation within group members. Identification of immigrant cancer survivorship issues may support development of targeted resources for promoting survivors’ self-care and capacity for finding, choosing, and using existing support options.

Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel–Lindau disease

Despite well-established protocols for the medical management of Von Hippel–Lindau disease (VHL), families affected by this rare tumour syndrome continue to face numerous psychological, social, and practical challenges. To our knowledge, this is one of the first qualitative studies to explore the psychosocial difficulties experienced by families affected by VHL. A semi-structured interview was developed to explore patients’ and carers’ experiences of VHL along several life domains, including: self-identity and self-esteem, interpersonal relationships, education and career opportunities, family communication, physical health and emotional well-being, and supportive care needs. Quantitative measures were also used to examine the prevalence of anxiety, depression, and disease-specific distress in this sample. Participants were recruited via the Hereditary Cancer Clinic at the Prince of Wales Hospital in Sydney, Australia. A total of 23 individual telephone interviews were conducted (15 patients, 8 carers), yielding a response rate of 75%. A diverse range of experiences were reported, including: sustained uncertainty about future tumour development, frustration regarding the need for lifelong medical screening, strained family relationships, difficulties communicating with others about VHL, perceived social isolation and limited career opportunities, financial and care-giving burdens, complex decisions in relation to childbearing, and difficulties accessing expert medical and psychosocial care. Participants also provided examples of psychological growth and resilience, and voiced support for continued efforts to improve supportive care services. More sophisticated systems for connecting VHL patients and their families with holistic, empathic, and person-centred medical and psychosocial care are urgently needed.