Digital orphans: Data closure and openness in patient- powered networks

This is the author accepted manuscript. The final version is available from Palgrave Macmillan via the DOI in this record.In this paper, we discuss an issue linked to data-sharing regimes in patient-powered, social-media-based networks, namely that most of the data that patient users share are not used to research scientific issues or the patient voice. This is not a trivial issue, as participation in these networks is linked to openness in data sharing, which would benefits fellow patients and contributes to the public good more generally. Patient-powered research networks are often framed as disrupting research agendas and the industry. However, when data that patients share are not accessible for research, their epistemic potential is denied. The problem is linked to the business models of the organisations managing these networks: models centred on controlling patient data tend to close networks with regard to data use. The constraint on research is at odds with the ideals of a sharing, open and supportive epistemic community that networks’ own narratives evoke. This kind of failure can create peculiar scenarios, such as the emergence of the ‘digital orphans’ of Internet research. By pointing out the issue of data use, this paper informs the discussion about the capacity of patient-powered networks to support research participation and the patient voice.We are indebted to the anonymous reviewers and the editor, who with their supportive and constructive comments helped us to better clarify and highlight the argument of the article. We would like to also thank friends and colleagues who have offered valuable comments and suggestions on early drafts of this paper. We would like to especially thank Barbara Prainsack, Sabina Leonelli, Alena Buyx, and David Teira. This research is funded by the European Research Council (ERC) under the European Union’s Seventh Framework Programme (FP7/2007–2013)/ERC grant agreement number 335925, and the German Federal Ministry of Education and Research (grant number 01GP1311

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Background Children with intellectual disability frequently have multiple co-morbid neuropsychiatric conditions and poor physical health. Genomic testing is increasingly recommended as a first-line investigation for these children. We aim to determine the effect of genomics, inheritance, and socioeconomic deprivation on neuropsychiatric risk in children with intellectual disability of genetic origin as compared with the general population. Methods IMAGINE is a prospective cohort study using online mental health and medical assessments in a cohort of 3407 UK participants with intellectual disability and pathogenic genomic variants as identified by the UK's National Health Service (NHS). Our study is on a subset of these participants, including all children aged 4–19 years. We collected diagnostic genomic reports from NHS records and asked primary caregivers to provide an assessment of their child using the Development and Well-Being Assessment (DAWBA), the Strengths and Difficulties Questionnaire (SDQ), the Adaptive Behaviour Assessment System 3 (ABAS-3), and a medical history questionnaire. Each child was assigned a rank based on their postcode using the index of multiple deprivation (IMD). We compared the IMAGINE cohort with the 2017 National Survey of Children's Mental Health in England. The main outcomes of interest were mental health and neurodevelopment according to the DAWBA and SDQ. Findings We recruited 2770 children from the IMAGINE study between Oct 1, 2014 and June 30, 2019, of whom 2397 (86·5%) had a basic assessment of their mental health completed by their families and 1277 (46·1%) completed a medical history questionnaire. The mean age of participants was 9·2 years (SD 3·9); 1339 (55·9%) were boys and 1058 (44·1%) were girls. 355 (27·8%) of 1277 reported a seizure disorder and 814 (63·7%) reported movement or co-ordination problems. 1771 (73·9%) of 2397 participants had a pathogenic copy number variant (CNV) and 626 (26·1%) had a pathogenic single nucleotide variant (SNV). Participants were representative of the socioeconomic spectrum of the UK general population. The relative risk (RR) of co-occurring neuropsychiatric diagnoses, compared with the English national population, was high: autism spectrum disorder RR 29·2 (95% CI 23·9–36·5), ADHD RR 13·5 (95% CI 11·1–16·3). In children with a CNV, those with a familial variant tended to live in more socioeconomically deprived areas than those with a de novo variant. Both inheritance and socioeconomic deprivation contributed to neuropsychiatric risk in those with a CNV. Interpretation Children with genomic variants and intellectual disability are at an increased risk of neuropsychiatric difficulties. CNV variant inheritance and socioeconomic deprivation also contribute to the risk. Early genomic investigations of children with intellectual disability could facilitate the identification of the most vulnerable children. Additionally, harnessing parental expertise using online DAWBA assessments could rapidly identify children with exceptional needs to child mental health services

Older women\u27s \u27ways of doing\u27: Strategies for successful ageing

This paper discusses older women’s “ways of doing” which are occupational strategies that facilitate successful ageing by maintaining participation in meaningful occupations. The paper adopts an occupational perspective of health. This particular view of people as occupational beings who need to participate in personally meaningful occupations for their health and well being is central to occupational science, which provides the paper’s theoretical framework. The occupational strategies were identified in a life history study exploring the occupational life course six rural Australian women. The study data were the women’s life stories, which were narratively analysed from occupational and feminist perspectives. Analysis revealed the women developed strategies, at each life stage, in response to the explicit and implicit exclusions they experienced in relation to occupational participation, within familial and social contexts. This paper focuses on strategies they developed in late adulthood as a means of facilitating successful ageing. Although the study revealed that each woman developed unique strategies to meet her personal needs for participation, there are some common features of their strategies. This paper describes five significant features of the strategies which were highlighted when they were considered collectively. To enhance understanding of older women’s “ways of doing”, two case studies from the life history study are presented and illustrated with examples of occupational strategies. The paper concludes with a discussion on the implications of occupational strategies and an occupational perspective of health for policies and programs that promote successful ageing

Do it now: a project promoting participation in engaging occupations during retirement

The Do It Now Project was based on evidence that participating in engaging occupations has significant health, function and quality of life benefits for seniors. Distinct from general social activities, engaging occupations refer to those things that people routinely do, which have purpose and meaning for them, to which they are deeply committed and which often involve other people. The aim of the project was to educate pre retirees and retirees about the relationship between health and continued participation in engaging occupations during retirement. Do It Now was conducted in Shoalhaven by an occupational therapist. The sessions were structured as focus groups to enable participants to share information and experiences. Fifty three pre retirees aged 55- 64 years and 118 retirees aged over 65 years participated in the project. All participants completed a questionnaire specifically designed to collect demographic data as well as information about their level of participation in engaging occupations and their perceived barriers to continued participation in engaging occupations. This article describes the Do It Now project and discusses some of the design features that maximised attendance and facilitated the participants’ enjoyment of the project. Some examples of the questionnaire data are presented as they will inform relevant agencies responsible for developing policies and programs for retirees. Given the increasing number of baby boomers preparing to make the transition to retirement, Do It Now could be replicated in other communities, and play an important role in promoting health and quality of life outcomes for seniors