Genetic professionals' reports of nondisclosure of genetic risk information within families

Patients attending genetic clinics are often the main gatekeepers of information for other family members. There has been much debate about the circumstances under which professionals may have an obligation, or may be permitted, to pass on personal genetic information about their clients but without their consent to other family members. We report findings from the first prospective study investigating the frequency with which genetics professionals become concerned about the failure of clients to pass on such information to their relatives. In all, 12 UK and two Australian regional genetic services reported such cases over 12 months, including details of actions taken by professionals in response to the clients' failure to disclose information. A total of 65 cases of nondisclosure were reported, representing

Significant correlation in linkage signals from genome-wide scans of schizophrenia and schizotypy

Prior family and adoption studies have suggested a genetic relationship between schizophrenia and schizotypy. However, this has never been verified using linkage methods. We therefore attempted to test for a correlation in linkage signals from genome-wide scans of schizophrenia and schizotypy. The Irish study of high-density schizophrenia families comprises 270 families with at least two members with schizophrenia or poor-outcome schizoaffective disorder (n = 637). Non-psychotic relatives were assessed using the structured interview for schizotypy (n = 746). A 10-cM multipoint, non-parametric, autosomal genomewide scan of schizophrenia was performed in Merlin. A scan of a quantitative trait comprising ratings of DSM-III-R criteria for schizotypal personality disorder in non-psychotic relatives was also performed. Schizotypy logarithm of the odds (LOD) scores were regressed onto schizophrenia LOD scores at all loci, with adjustment for spatial autocorrelation. To assess empirical significance, this was also carried out using 1000 null scans of schizotypy. The number of jointly linked loci in the real data was compared to distribution of jointly linked loci in the null scans. No markers were suggestively linked to schizotypy based on strict Lander Kruglyak criteria. Schizotypy LODs predicted schizophrenia LODs above chance expectation genome wide (empirical P = 0.04). Two and four loci yielded nonparametric LOD (NPLs) > 1.0 and > 0.75, respectively, for both schizophrenia and schizotypy (genome-wide empirical P = 0.04 and 0.02, respectively). These results suggest that at least a subset of schizophrenia susceptibility genes also affects schizotypy in non-psychotic relatives. Power may therefore be increased in molecular genetic studies of schizophrenia if they incorporate measures of schizotypy in non-psychotic relatives.

The prevalence of alpha-1 antitrypsin deficiency in Ireland

Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.

Holding eternity in an hour: A practical exploration of the arts in the health care of older people with dementia

This project involved creative artists working with older people with dementia and staff from two Belfast Health and Social Care Trust supported housing centres in a mixed programme of dance, painting, music and drama which culminated in an open workshop with relatives and friends of the tenants. The study steered away from traditional medical models of art/music/dance therapy where the participant is perceived as a ‘patient’ in favour of identifying the participant as a ‘student’ who avails of a life-long learning experience. A key premise was that access to the arts is a human right, especially in the context of advancing age and cognitive impairment. . According to one the tenants of Mullan Mews, the project served to ‘awaken - or reawaken - folk with dementia to the endless vista of possibility already in their lives if they will only look for it’. A phenomenographic analysis of video data generated by the project emphasises the importance of the individual experiences of participants in the programme. The evidence from these storylines gained strength from the development of a documentary-style film text that has proved successful in capturing and translating the live experience of the project participants into a supportive text that goes beyond the written word.

Integrated care: utilisation of complementary and alternative medicine within a conventional cancer treatment centre

Objectives: To estimate the proportion of cancer outpatients who visit a Complementary and Alternative Medicine (CAM) unit that is located within a conventional cancer treatment centre; to compare the characteristics of CAM unit visitors with those of all outpatients; to monitor the demand for 20 CAM therapies delivered by professionals, and the use of the CAM unit for waiting, gathering information and informal support from volunteer staff.

Design: Prospective, observational, over a six month period.

Setting: CAM unit within a NHS cancer treatment centre.

Main outcome measures: Utilisation of the CAM unit for 20 complementary therapies, and for waiting, gathering information, informal support; characteristics of CAM users compared with those of all cancer outpatients attending the cancer centre; predictors of CAM therapy use and frequent use.

Results: 761 (95% of those approached) people were recruited, 498 (65.4%) cancer patients, 202 (26.5%) relatives, 37 (4.8%) friends/carers, 24 (3.2%) staff. Women predominated (n = 560, 73.6%). Of all outpatients attending the cancer centre, 498 (15.8%) visited the CAM unit, 290 (9.2%) accessed therapies. Compared to all outpatients, those visiting the CAM unit were: younger (mean 63.7 vs. 58.4 years), more likely to be female (57.9% vs. 78.7%), have breast (14.8% vs. 51.9%), gynaecological (5.0% vs. 9.1%) cancer, live in local postal district (57.3% vs. 61.6%). Significant predictors of therapy use and frequent visits were being a patient, female, higher education, living closer to the cancer centre.

Conclusions: Despite easy access to CAM therapies, a relatively small number of people regularly used them, whilst a larger number selectively tried a few. The integrated CAM unit meets a demand for information and informal support. The findings inform emerging policy on integrating CAM and conventional cancer treatment to address psychosocial needs of people with cancer. More research is needed on why people do not use integrated CAM services and how charges affect demand. © 2008.

Cancer Cachexia Care: The Contribution of Qualitative Research to Evidence-Based Practice

Background: Despite its prevalence and prognostic impact, primary cachexia is not well understood. Its potential to cause considerable psychological stress indicates the need for qualitative research to help understand the perspectives of those affected.

Objective: The aims of this study were to describe the perspectives of patients with primary cachexia, of their relatives, and of the healthcare professionals involved in their care and to demonstrate how this evidence can be applied in practice at 4 different levels of application ranging from empathy to coaching.

Methods: A review of the qualitative literature and empirical qualitative investigation was used to understand the experiences of patients and relatives and the perspectives of professionals.

Results: The main worries expressed by patients and relatives concerned appetite loss, changing appearance, prognosis, and social interaction. We also describe their coping responses and their views of professionals’ responses. The main concerns of professionals related to poor communication, lack of clinical guidance, and lack of professional education.

Conclusions: Understanding patients’, families’, and professionals’ perspectives, and mapping that understanding onto what we know about the trajectory and prognosis of the condition, provides the evidence base for good practice. Qualitative research has a central role to play in providing the knowledge base for the nursing care of patients with cachexia.

Implications for Practice: The evidence provided can improve nurses’ insight and assist them in assessment of status, the provision of guidance, and coaching. There is a need for the development of a holistic, information-based integrated care pathway for those with cancer cachexia and their families.

Kinship, parentage and temporal stability in nursery colonies of Leisler’s bat (Nyctalus leisleri)

Levels of genetic relatedness within bat colonies are often unknown, and consequently the reasons for group formation and social organization are unclear. The Leisler's bat (Nyctalus leisleri), like most temperate bat species, forms nursery colonies in summer. We used microsatellite markers to examine identity and to attempt to estimate relatedness among females within a nursery colony, over 2 consecutive years, to ascertain whether females show kinship and natal philopatry, testing the hypothesis that this is the basis of colony formation. Parentage and relatedness of young born within a colony was assessed to investigate mating patterns via male reproductive skew and whether males achieve mating success within their natal colony. While there was evidence for female philopatry, levels of genetic relatedness within colonies were low. This suggests that kinship is not a major determinant in group formation, as roosts also comprise a large number of distant relatives or non-kin. Roost switching and gene flow are likely to be high. Both sexes reproduced in their first year, whereas males appear to be the more dispersive sex. We argue that the physical environment as well as information sharing provided by communal roosting are likely to be important factors for the formation of these large natal colonies in N. leisleri and possibly other lineages of bats. © 2012 The Author.

Bereavement Adjustment and Support among Caregivers

The objective of this study was to examine the influence of health status, demographics, duration of bereavement, caregiving experience, and the use of formal services on bereavement adjustment for caregivers. Participants were 151 bereaved family caregivers who participated in a telephone survey. The most frequently reported symptoms by caregivers were sleeplessness, followed by depression, and loss of appetite. One hundred thirty-five respondents (89%) felt that things were going reasonably well for themselves at the time of the interview, and 91 respondents (60%) had come to terms with their loved one's death. Hierarchical regression models revealed that being a younger caregiver, reporting poorer mental health status, and being the spouse of the care recipient were predictive of a greater number of reported depressive symptoms in bereavement. Poorer mental health status, being a spousal caregiver, and reporting negative consequences of caregiving on caregiver's health were predictive of poorer recovery in bereavement. Study results also revealed that relatives and friends played an important role in assisting the bereaved to manage the bereavement process. This article identifies factors associated with poor reactions in bereavement and that bereavement as a social process where family and friends play an important role in the recovery process.

The use of natural health products (NHP) by Ontario seniors

A random dialing telephone survey in 4 Ontario communities obtained data on the use of natural health products (NHP) from 1,071 persons 60 years and older. 553 (52%) respondents were users of NHP. Prevalence of use was similar for females (53%) and males (48%). In this population modal users were of European descent, high school graduates and employed at least part-time. Half the users received recommendations about NHP from friends or relatives; another 22% learned about NHP through self-experimentation. Most users (81 %) decided by themselves whether they would buy an NHP rather than rely on input from another source (herbalist, physician, store owner/employee). 38% of NHP users had not informed their physician that they were using an NHP. When users had discussed NHP with their physician, less than 5% of physicians responded negatively. Some users felt natural health products were safer (15%) and less expensive (4%) than prescription drugs. 30% used NHP as a last resort for the treatment of a chronic disease. Nearly half (49%) of the users believed that if the government pays for prescription drugs, it should also pay for herbal remedies; 36% said the consumer should pay. In light of the extensive use of NHP by seniors, there is a need for clinical pharmacology studies of these products.

Living and coping with Parkinson's disease: Perceptions of informal carers

A review of the literature highlights the important role informal carers play in the provision of palliative care in the community. In order to explore the caring experience of relatives with Parkinson's Disease (PD), interviews were conducted with 26 informal family caregivers. Interviews were taped, transcribed and subjected to content analysis. All caregivers were spouses, the majority female (n=17) and all were responsible for providing physical, social and emotional care in the home. Although they viewed care giving as their role and duty, the results highlight the widespread burden of providing care on the emotional and physical health of the caregivers. The financial implications for providing care were outlined, with many reporting difficulty in accessing benefits. From the point of diagnosis, which had a huge emotional impact on relatives and carers, carers did not feel health professionals integrated them within the caring journey. Since diagnosis, carers commented on the lack of continued and coordinated care plans for relatives, resulting in symptoms being mismanaged and care opportunities for relatives and carers missed. Stereotypes of the meaning and timing of palliative care were common with many viewing it as being synonymous with cancer and not applicable to a person with PD. As the well-being of the informal carer directly influences the care of the person with PD, support interventions are required to relieve their burden, maximize outcomes and ensure targeting of services. © The Author(s) 2010.

Measuring the psychosocial characteristics of family caregivers of palliative care patients:psychometric properties of nine self-report instruments

Researchers and clinicians have experienced substantial difficulties locating measures that are suitable for use within palliative care settings. This article details the psychometric properties of nine instruments designed to assess the following psychosocial characteristics of family caregivers: competence, mastery, self-efficacy, burden, optimism, preparedness, social support, rewards, and mutuality. Results are based on the responses of 106 primary family caregivers caring for relatives dying of cancer. Principal components extraction with varimax rotation was used to explore the underlying structure of each measure. Following the exclusion of complex variables, suggested components for most measures comprised relatively homogenous items, which were good to excellent measures of each component. Some components comprised only two items; however, Cronbach's alphas typically indicated moderate to high levels of internal consistency. Overall, the results of this study suggest that most of the measures analyzed, excepting the mastery and mutuality scales, can be recommended to examine the family caregiver experience and test supportive interventions.

Molecular Validation of the Schizophrenia Spectrum

Background: Early descriptive work and controlled family and adoption studies support the hypothesis that a range of personality and nonschizophrenic psychotic disorders aggregate in families of schizophrenic probands. Can we validate, using molecular polygene scores from genome-wide association studies (GWAS), this schizophrenia spectrum? Methods: The predictive value of polygenic findings reported by the Psychiatric GWAS Consortium (PGC) was applied to 4 groups of relatives from the Irish Study of High-Density Schizophrenia Families (ISHDSF; N = s) differing on their assignment within the schizophrenia spectrum. Genome-wide single nucleotide polymorphism data for affected and unaffected relatives were used to construct per-individual polygene risk scores based on the PGC stage-I results. We compared mean polygene scores in the ISHDSF with mean scores in ethnically matched population controls (N = 929). Results: The schizophrenia polygene score differed significantly across diagnostic categories and was highest in those with narrow schizophrenia spectrum, lowest in those with no psychiatric illness, and in-between in those classified in the intermediate, broad, and very broad schizophrenia spectrum. Relatives of all of these groups of affected subjects, including those with no diagnosis, had schizophrenia polygene scores significantly higher than the control sample. Conclusions: In the relatives of high-density families, the observed pattern of enrichment of molecular indices of schizophrenia risk suggests an underlying, continuous liability distribution and validates, using aggregate common risk alleles, a genetic basis for the schizophrenia spectrum disorders. In addition, as predicted by genetic theory, nonpsychotic members of multiply-affected schizophrenia families are significantly enriched for replicated, polygenic risk variants compared with the general population.

Irish study on high-density schizophrenia families:field methods and power to detect linkage

Large samples of multiplex pedigrees will probably be needed to detect susceptibility loci for schizophrenia by linkage analysis. Standardized ascertainment of such pedigrees from culturally and ethnically homogeneous populations may improve the probability of detection and replication of linkage. The Irish Study of High-Density Schizophrenia Families (ISHDSF) was formed from standardized ascertainment of multiplex schizophrenia families in 39 psychiatric facilities covering over 90% of the population in Ireland and Northern Ireland. We here describe a phenotypic sample and a subset thereof, the linkage sample. Individuals were included in the phenotypic sample if adequate diagnostic information, based on personal interview and/or hospital record, was available. Only individuals with available DNA were included in the linkage sample. Inclusion of a pedigree into the phenotypic sample required at least two first, second, or third degree relatives with non-affective psychosis (NAP), one whom had schizophrenia (S) or poor-outcome schizo-affective disorder (PO-SAD). Entry into the linkage sample required DNA samples on at least two individuals with NAP, of whom at least one had S or PO-SAD. Affection was defined by narrow, intermediate, and broad criteria. The phenotypic sample contained 277 pedigrees and 1,770 individuals and the linkage sample 265 pedigrees and 1,408 individuals. Using the intermediate definition of affection, the phenotypic sample contained 837 affected individuals and 526 affected sibling pairs. Parallel figures for the linkage sample were 700 and 420. Individuals with schizophrenia from these multiplex pedigrees resembled epidemiologically sampled cases with respect to age at onset, gender distribution, and most clinical symptoms, although they were more thought-disordered and had a poorer outcome. Power analyses based on the model of linkage heterogeneity indicated that the ISHDSF should be able to detect a major locus that influences susceptibility to schizophrenia in as few as 20% of families. Compared to first-degree relatives of epidemiologically sampled schizophrenic probands, first-degree relatives of schizophrenic members from the ISHDSF had a similar risk for schizotypal personality disorder, affective illness, alcoholism, and anxiety disorder. With sufficient resources, large-scale ascertainment of multiplex schizophrenia pedigrees is feasible, especially in countries with catchmented psychiatric care and stable populations. Although somewhat more severely ill, schizophrenic members of such pedigrees appear to clinically resemble typical schizophrenic patients. Our ascertainment process for multiplex schizophrenia families did not select for excess familial risk for affective illness or alcoholism. With its large sample ascertained in a standardized manner from a relatively homogeneous population, the ISHDSF provides considerable power to detect susceptibility loci for schizophrenia.

Evaluation of a Psychoeducational intervention for patients with Advanced Cancer who have Cachexia and their lay Carers (EPACaCC): study protocol

Aim: To evaluate a psychoeducational intervention for patients with advanced cancer who have cachexia and their lay carers.

Background: Cachexia is a frequent and devastating syndrome of advanced cancer. It has an impact on patients biologically, psychologically and socially and has profound impact on their lay carers. Prior research has predominately focused on the biological components of cachexia and associated potential treatment modalities. At present, there is no standardized supportive healthcare intervention in current practice that targets the psychosocial impact of this syndrome.

Design: A pragmatic multicentre randomized controlled trial.

Methods: Patient/carer dyads (n = 200) will be recruited into a randomized controlled trial of a DVD intervention for cachexia management. The sample will be recruited from two urban hospices in the UK. The primary outcome measure will be the General Health Questionnaire-12. Additional questionnaires focusing on distress, readiness to give care and coping skills will be used as secondary outcome measures. In addition, lay carers in the intervention group will be asked to participate in semi-structured interviews following the death of their loved one. Both Office for Research Ethics Committee approval and local governance approval at both hospices have been obtained as of February 2013.

Discussion: This is the first time that a psychoeducational DVD has been tested in a randomized controlled trial in this population. Dissemination of findings will make a significant contribution to international knowledge and understanding in this area. Findings will inform education, practice and policy.

De-linkage Processes and Grassroots Movements in Transitional Justice

Transitional justice literature has highlighted a negative relationship between enforced disappearances and reconciliation in post-conflict settings. Little attention has been paid to how human rights issues can become stepping-stones to reconciliation. The article explains the transformation of the Cypriot Committee on Missing Persons (CMP) from an inoperative body into a successful humanitarian forum, paving the way for the pro-rapprochement bi-communal grassroots mobilization of the relatives of the missing. By juxtaposing the experience of Cyprus with other societies confronting similar problems, the article shows how the issue of the missing can become a driving force for reconciliation. The findings indicate that a policy delinking humanitarian exhumations from the prospect of a wider political settlement facilitates positive transformation in protracted human rights problems and opens up a window of opportunity to grassroots actors.