How young people find out about their family history of Huntington's disease

Family communication about adult-onset hereditary illness can be problematic, leaving some relatives inadequately informed or ignorant of their risk. Although studies have explored the barriers and facilitators in family communication about genetic risk, questions remain about when, what, how and indeed whether to tell relatives. The process of disclosure is also dependent upon the way in which genetic information is realized and understood by recipients, but research here is limited. Our paper explores young people’s experiences of finding out about a family history of the hereditary disorder Huntington’s disease (HD). In-depth interviews explored how and when young people found out, their reactions to different communication styles and any impact on family relations. We recruited young people through the North of Scotland regional genetics clinic and the Scottish Huntington’s Association (SHA). Thirtythree young people (aged 9–28) were interviewed. A qualitative analysis was undertaken which revealed four types of disclosure experiences: (1) having always been told, (2) gradually told, (3) HD was kept a secret, or (4) HD as a new diagnosis. In particular, the timing and style of disclosure from relatives, and one’s stage of awareness, were fundamental in structuring participants’ accounts. This article focuses on questions of when, how and indeed whether to tell children, and sits within a broader set of research and practice issues about what professionals and families (should) tell children about parental illness and genetic risk.Wellcome Trust’s Programme in Biomedical Ethic

Avoidance as a strategy of (not) coping: qualitative interviews with carers of Huntington's Disease patients

Peer reviewedPublisher PD

Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children : a qualitative study

Open Access via Springer Compact Agreement. We would like to thank all the participants who took part and the genetics/lipid services who helped with recruitment, particularly Hazel Hailey and Margaretha van Mourik. We also thank our project advisory team, patient representatives and Zoe Skea. KFK was supported by a Postdoctoral Fellowship from the Chief Scientist Office of the Scottish Government (PDF/10/06). The views of this paper are the authors own.Peer reviewedPublisher PD

The effect of COVID19 public health restrictions on the health of people with musculoskeletal conditions and symptoms : the CONTAIN study

Funding This work was supported by Versus Arthritis [Grant Number: 20748] and the British Society for Rheumatology. The funding for the original studies included were from Versus Arthritis (MAmMOTH) and the British Society for Rheumatology (BSRBR-AS and BSR-PsA). Daniel Whibley is supported by a Versus Arthritis Foundation Fellowship [Grant Number 21742] Acknowledgements We are grateful to help from staff at the National Ankylosing Spondylitis Society and specifically to patient partners Lynne Laidlaw (for help with designing questionnaire) and Susan Davis (for commenting on the manuscript). The authors do not report any conflicts of interest. GJM conceived the idea for the study and all authors were involved in the detailed planning. MH, KK, EM-B and MB were responsible for obtaining ethics and research governance approvals. MB undertook the analysis which was independently verified by GTJ. GJM, with input from MB, drafted the manuscript, and all authors contributed important intellectual content via written comments. We thank Linda Dean for comments on the manuscript. Data Availability Statement The data within the article which relate to the collection of BSR register data are owned by the BSR – access to these data are subject to application being made to the BSR: Registers (rheumatology.org.uk) . For other data in the article, application can be made for access to the data by contacting the corresponding author.Peer reviewedPublisher PD

Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery.

Many families experience difficulty in talking about an inherited genetic condition that affects one or more of them. There have now been a number of studies identifying the issues in detail, however few have developed interventions to assist families. The SPRinG collaborative have used the UK Medical Research Council's guidance on Developing and Evaluating Complex Interventions, to work with families and genetic counsellors (GCs) to co-design a psycho-educational intervention to facilitate family communication and promote better coping and adaptation to living with an inherited genetic condition for parents and their children (<18 years). The intervention is modelled on multi-family discussion groups (MFDGs) used in psychiatric settings. The MFDG was developed and tested over three phases. First focus groups with parents, young people, children and health professionals discussed whether MFDG was acceptable and proposed a suitable design. Using evidence and focus group data, the intervention and a training manual were developed and three GCs were trained in its delivery. Finally, a prototype MFDG was led by a family therapist and co-facilitated by the three GCs. Data analysis showed that families attending the focus groups and intervention thought MFDG highly beneficial, and the pilot sessions had a significant impact on their family' functioning. We also demonstrated that it is possible to train GCs to deliver the MFDG intervention. Further studies are now required to test the feasibility of undertaking a definitive randomised controlled trial to evaluate its effectiveness in improving family outcomes before implementing into genetic counselling practice.The National Institute of Health Research funded the study but any views expressed do not necessarily reflect those of the Authority. Funded by NIHR reference number: RP-DG-1211-10015

Clean birth kits to improve birth practices: development and testing of a country level decision support tool

Background: Clean birth practices can prevent sepsis, one of the leading causes of both maternal and newborn mortality. Evidence suggests that clean birth kits (CBKs), as part of package that includes education, are associated with a reduction in newborn mortality, omphalitis, and puerperal sepsis. However, questions remain about how best to approach the introduction of CBKs in country. We set out to develop a practical decision support tool for programme managers of public health systems who are considering the potential role of CBKs in their strategy for care at birth. Methods: Development and testing of the decision support tool was a three-stage process involving an international expert group and country level testing. Stage 1, the development of the tool was undertaken by the Birth Kit Working Group and involved a review of the evidence, a consensus meeting, drafting of the proposed tool and expert review. In Stage 2 the tool was tested with users through interviews (9) and a focus group, with federal and provincial level decision makers in Pakistan. In Stage 3 the findings from the country level testing were reviewed by the expert group. Results: The decision support tool comprised three separate algorithms to guide the policy maker or programme manager through the specific steps required in making the country level decision about whether to use CBKs. The algorithms were supported by a series of questions (that could be administered by interview, focus group or questionnaire) to help the decision maker identify the information needed. The country level testing revealed that the decision support tool was easy to follow and helpful in making decisions about the potential role of CBKs. Minor modifications were made and the final algorithms are presented. Conclusion: Testing of the tool with users in Pakistan suggests that the tool facilitates discussion and aids decision making. However, testing in other countries is needed to determine whether these results can be replicated and to identify how the tool can be adapted to meet country specific needs

Stakeholder analysis for a maternal and newborn health project in Eastern Uganda

Background Based on the realization that Uganda is not on track to achieving Millennium Development Goals 4 and 5, Makerere University School of Public Health in collaboration with other partners proposed to conduct two community based maternal/newborn care interventions aimed at increasing access to health facility care through transport vouchers and use of community health workers to promote ideal family care practices. Prior to the implementation, a stakeholder analysis was undertaken to assess and map stakeholders’ interests, influence/power and position in relation to the interventions; their views regarding the success and sustainability; and how this research can influence policy formulation in the country. Methods A stakeholder analysis was carried out in March 2011 at national level and in four districts of Eastern Uganda where the proposed interventions would be conducted. At the national level, four key informant interviews were conducted with the ministry of health representative, Member of Parliament, and development partners. District health team members were interviewed and also engaged in a workshop; and at community level, twelve focus group discussions were conducted among women, men and motorcycle transporters. Results This analysis revealed that district and community level stakeholders were high level supporters of the proposed interventions but not drivers. At community level the mothers, their spouses and transporters were of low influence due to the limited funds they possessed. National level and district stakeholders believed that the intervention is costly and cannot be affordably scaled up. They advised the study team to mobilize and sensitize the communities to contribute financially from the start in order to enhance sustainability beyond the study period. Stakeholders believed that the proposed interventions will influence policy through modeling on how to improve the quality of maternal/newborn health services, male involvement, and improved accessibility of services. Conclusion Most of the stakeholders interviewed were supporters of the proposed maternal and newborn care intervention because of the positive benefits of the intervention. The analysis highlighted stakeholder concerns that will be included in the final project design and that could also be useful in countries of similar setting that are planning to set up programmes geared at increasing access to maternal and new born interventions. Key among these concerns was the need to use both human and financial resources that are locally available in the community, to address supply side barriers that influence access to maternal and child healthcare. Research to policy translation, therefore, will require mutual trust, continued dialogue and engagement of the researchers, implementers and policy makers to enable scale up.UKai

Staff perspectives of barriers to women accessing birthing services in Nepal: A qualitative study

Background: Nepal has made significant progress with regard to reducing the maternal mortality ratio but a major challenge remains the under-utilisation of skilled birth attendants who are predominantly facility based. Studies have explored women's views of the barriers to facility birth; however the voices of staff who offer services have not been studied in detail. This research explores the views of staff as to the key reasons why pregnant women do not give birth in a maternity-care facility. Methods: This mixed methods study comprised qualitative interviews and non-participant observation. The study was conducted in two small non-governmental hospitals, one semi-rural and one urban, in Kathmandu Valley. Twenty interviews were conducted with health care providers and other staff in these hospitals. The interviews were undertaken with the aid of a Nepali translator, with some interviews being held in English. Twenty-five hours of non-participant observation was conducted in both maternity hospitals . Both observation and interview data were analysed thematically. Ethical approval was granted by the Nepal Research Health Council and Bournemouth University's Ethics Committee. Results: Key themes that emerged from the analysis reflected barriers that women experience in accessing services at different conceptual levels and resembled the three phases of delay model by Thaddeus and Maine. This framework is used to present the barriers. First Phase Delays are: 1) lack of awareness that the facility/services exist; 2) women being too busy to attend; 3) poor services; 4) embarrassment; and 5) financial issues. Themes for the second Phase of Delay are: 1) birthing on the way; and 2) by-passing the facility in favour of one further away. The final Phase involved: 1) absence of an enabling environment; and 2) disrespectful care. Conclusion: This study highlights a multitude of barriers, not all of the same importance or occuring at the same time in the pregnancy journey. It is clear that staff are aware of many of the barriers for women in reaching the facility to give birth, and these fit with previous literature of women's views. However, staff had limited insight into barriers occuring within the facility itself and were more likely to suggest that this was a problem for other institutions and not theirs

Dirty and 40 days in the wilderness: Eliciting childbirth and postnatal cultural practices and beliefs in Nepal.

Background: Pregnancy and childbirth are socio-cultural events that carry varying meanings across different societies and cultures. These are often translated into social expectations of what a particular society expects women to do (or not to do) during pregnancy, birth and/or the postnatal period. This paper reports a study exploring beliefs around childbirth in Nepal, a low-income country with a largely Hindu population. The paper then sets these findings in the context of the wider global literature around issues such as periods where women are viewed as polluted (or dirty even) after childbirth. Methods: A qualitative study comprising five in-depth face-to-face interviews and 14 focus group discussions with mainly women, but also men and health service providers. The qualitative findings in Nepal were compared and contrasted with the literature on practices and cultural beliefs related to the pregnancy and childbirth period across the globe and at different times in history. Results: The themes that emerged from the analysis included: (a) cord cutting & placenta rituals; (b) rest & seclusion; (c) purification, naming & weaning ceremonies and (d) nutrition and breastfeeding. Physiological changes in mother and baby may underpin the various beliefs, ritual and practices in the postnatal period. These practices often mean women do not access postnatal health services. Conclusions: The cultural practices, taboos and beliefs during pregnancy and around childbirth found in Nepal largely resonate with those reported across the globe. This paper stresses that local people’s beliefs and practices offer both opportunities and barriers to health service providers. Maternity care providers need to be aware of local values, beliefs and traditions to anticipate and meet the needs of women, gain their trust and work with them