Search

The creation and use of ontologies has become increasingly relevant for complex systems in recent years. This is because of the growing number of use of cases that rely on real-world integration of disparate systems, the need for semantic congruence across boundaries and the expectations of users for conceptual clarity within evolving domains or systems of interest. These needs are evident in most spheres of research involving complex systems, but they are particularly apparent in infrastructure and cities where traditionally siloed and sectoral approaches have dominated, undermining the potential for integration to solve societal challenges such as net zero, resilience to climate change, equity and affordability. This paper reports on findings of a literature review on infrastructure and city ontologies and puts forward some hypotheses inferred from the literature findings. The hypotheses are discussed with reference to the literature and provide avenues for further research on (a) belief systems that underpin non-top-level ontologies and the potential for interference from them, (b) the need for a small number of top-level ontologies and translation mechanisms between them and (c) clarity on the role of standards and information systems in the adaptability and quality of data sets using ontologies. A gap is also identified in the extent that ontologies can support more complex automated coupling and data transformation when dealing with different scales.

Recent HCI research has investigated how digital technologies might enable citizens to identify and express matters of civic concern. We extend this work by describing JourneyCam, a smartphone-based system that enables powered wheelchair users to capture video and sensor data about their experiences of mobility. Thirteen participants used JourneyCam to document journeys, after which the data they collected was used to support discussions around their experiences. Our findings highlight how the system facilitated the articulation of complex embodied experiences, and how the collected data might have particular value in surfacing these experiences to help inform urban design and policymaking. Participants valued the ways in which JourneyCam's moving image and sensor data made hard-to-express sensations apparent, as well as how it enabled them to surface previously unrecognised issues. We conclude by highlighting future opportunities for how such tools might enable citizens to inform and influence civic governance.

Background: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines. Methods: A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries. Results: Survey respondents were 861 children and 201 adults. Data describe a European DMD population with mean age of 13.0 years (range 0.8–46.2) of whom 53% had lost ambulation (at 10.3 years of age, median). Corticosteroid medication raised the median age for ambulatory loss from 10.1 years in patients never medicated to 11.4 years in patients who received steroids (p

Survival in Duchenne muscular dystrophy (DMD) has increased in recent years due to iterative improvements in care. We describe the results of the CARE-NMD survey of care practices for adults with DMD in the UK in light of international consensus care guidelines. We also compare the UK experience of adult care with the care available to pediatric patients and adults in other European countries (Germany, Denmark, Bulgaria, Czech Republic, Hungary, and Poland). UK adults experience less comprehensive care compared to children in their access to specialized clinics, frequency of cardiac and respiratory assessments, and access to professional physiotherapy. Access to the latter is especially poor when compared to other European adult cohorts. Although the total number of nights in hospital (planned and unplanned admissions) is lower among UK adults than elsewhere in Western Europe, social inclusion lags behind other Western European countries. We observe that attendance at specialized clinic is associated with more frequent cardiac and respiratory assessments among adults, in line with international best practice. Attendance at such clinics in the UK, though comparable to other countries, is still far from universal. With an increasing adult population living with DMD, and cardiac and respiratory failure the leading causes of death in this population, we suggest the need for an urgent improvement in adult access to specialized clinics and to consistent, comprehensive best practice care.

Duchenne muscular dystrophy (DMD) is a progressive, genetically determined neuromuscular disease that affects males and leads to severe physical disability in early teenage years. Over the last decades, patient-reported outcomes such as Health-Related Quality of Life (HRQoL) gained great interest in clinical research. However, little is known about factors affecting HRQoL in boys with DMD. Data from the multi-center CARE-NMD project of boys with DMD from six European countries collected between 2011 and 2012 were analyzed (8-17 years old; n = 321). HRQoL was measured using the KIDSCREEN-10 index, the Pediatric Quality of Life Inventory (PedsQL) and the Neuromuscular Module of the PedsQL (NMM). Linear regression models served to examine influences of socio-demographic, disease- and treatment-specific as well as participation- and environment-related factors on overall and disease-specific HRQoL. Proportions of explained variance varied across models using different outcomes (18-34%). Overall HRQoL according to the KIDSCREEN-10 index was associated with household income, the frequency of attending a clinic with specialized staff, the number of days spent outside home, and the attitude of the local community, but no significant association with age occurred. Overall HRQoL according to the generic PedsQL and disease-specific HRQoL were both positively associated with age and influenced by the country of residence, the disease stage, number of days spent outside home, and the attitude of the local community. Our results may be relevant for clinical practice and planning interventions for this population, but should be confirmed by future research. Further questions for future studies on boys with DMD are proposed.

Digital technologies offer the possibility of community empowerment via the reconfiguration of public services. This potential relies on actively involved citizens engaging with decision makers to pursue civic goals. In this paper we study one such group of involved citizens, examining the evidencing practices of a rare disease charity campaigning for accessible public transport. Through fieldwork and interviews, we highlight the ways in which staff and volunteers assembled and presented different forms of evidence, in doing so reframing what is conceived as 'valid knowledge'. We note the challenges this group faced in capturing experiential knowledge around the accessibility barriers of public transport, and the trade-offs that are made when presenting evidence to policy and decision makers. We offer a number of design considerations for future HCI research, focusing on how digital technology might be configured more appropriately to support campaigning around the politics of mobility.

Objective Immigration and the economy were the most salient issues in British politics at the 2010 general election, yet the relationship between them remains unclear. This article questions whether perception of the economic situation influenced hostility to immigration to Britain during the 2010 general election campaign. Method This article employs a logistic regression model using the 2010 British Election Study to test the effect of economic perception and other previously identified factors on hostility to immigration. Results The results show that perception of the economy did have an effect on hostility to immigration at the 2010 British general election. However, the effect is negligible. Conclusion The findings highlight the influence of other factors in predicting hostility to immigration, particularly identity and culture, party identification, and policy-based factors. The prominence of analyzing the effect of economic concerns in determining attitudes to immigration appears misplaced.

Duchenne muscular dystrophy (DMD) is a progressive, life-limiting muscle-wasting disease. Although no curative treatment is yet available, comprehensive multidisciplinary care has increased life expectancy significantly in recent decades. An international consensus care publication in 2010 outlined best-practice care, which includes corticosteroid treatment, respiratory, cardiac, orthopedic and rehabilitative interventions to address disease manifestations. While disease specialists are largely aware of these care standards, local physicians responsible for the day-to-day care of patients and families may be less familiar. To facilitate optimal care, a one-page document has been generated from published care recommendations, summarizing the key elements of comprehensive care for people living with DMD (“Imperatives for Duchenne muscular dystrophy). This document was developed through an international collaboration between Parent Project Muscular Dystrophy (PPMD), United Parent Projects Muscular Dystrophy (UPPMD) and TREAT-NMD.

CARE-NMD is an EU-funded project to improve care for patients with Durchenne Muscular Dystrophy (DMD). The analysis of the current care practice is the first step to identify gaps and to plan specific measures such as training sessions for professionals and workshops for patients. For this purpose, a large cross-sectional patient-survey about the received care and quality of life of patients with DMD has been performed since September 2011 in seven European countries: Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland and the United Kingdom. A total of 1,677 patients with Duchenne Muscular Dystrophy have received questionnaires via the national patient registries. For the assessment of quality of care we defined outcome and process indicators. Outcome indicators include stage of the disease, age at loss of ambulation, ability to sit, number of hospitalisations, cardiac and pulmonary function and age at diagnosis. Process indicators comprise the frequency of medical assessments and received treatment, e.g. the use of corticosteroids, non-invasive ventilation and assistive devices. By March 31st 1,093 of 1,677 patients/families responded (66 percent). Response by country were: Bulgaria 45/73, Czech Republic 92/191, Denmark 92/131, Germany 440/545, Hungary 62/70, Poland 137/246, and for United Kingdom 223/421. Key findings about health status, received treatment, and quality of life of patients with DMD in Europe will be presented. This is the largest ever cross-sectional survey of the care and quality of life of people with DMD. The final results will provide detailed insight into the current situation of people with DMD in Europe and help to identify gaps to further improve the situation of affected patients and families.

CARE-NMD aims to disseminate and implement best-practice standards of care for Duchenne muscular dystrophy (DMD) in Europe. Patient registries offer a valuable approach to engaging with the patient community, both to disseminate information and to survey their experiences. Registries permit the identification of a patient population with a precise genetic diagnosis, and are thus essential to the development of novel, mutation-specific therapeutic approaches such as exon-skipping. A core driving factor in their development has often therefore been clinical trial readiness: e.g. determining trial viability for a specific genetic mutation. However, as registries enable contact with a patient population, they also offer research opportunities outside the clinical trial domain. These include surveying availability of high-quality care and quality of life issues. Furthermore, registries permit the distribution of care information aimed at that particular audience. CARE-NMD has utilised patient registries in both of these contexts. The project has promoted knowledge of best-practice care via the translation and dissemination of the Family Guide to the care standards. This is now available in 22 languages via the CARE-NMD and TREAT-NMD websites, with 200 monthly downloads. The project has also conducted, via national patient registries in seven countries (Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland, and the UK), the largest ever survey of care and quality of life for DMD. The overall response rate is 66%, with 1100 responses received (April 2012), and national response rates of 48–89%. The data gathered provide unparalleled information on the experience of patients and families living with DMD across Europe. The use of registries also enables the return of information to the patient community, enhancing patient-led advocacy for the availability of better care, and strengthening mutual understanding between rare disease researchers and the patient community.

CARE-NMD aims to disseminate and implement best-practice standards of care for Duchenne muscular dystrophy (DMD) in Europe. As part of the project a survey of health related quality of life was to be conducted in seven countries. To select relevant methods of measurement a screening of seven existing instruments was carried out. Main criteria for selection were frequency of use, correspondence with domains in the International Classification of Functioning, Disability and Health (ICF), comparability with background population, and scope of cross cultural and geographical assessments. Three pediatric (one disease specific and two generic) and two (generic) instruments were chosen. A comprehensive questionnaire containing the selected instruments was designed and implemented through patient registries in Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland, and the UK. The overall response rate was 66%. In addition to information on the experience of 1100 European patients and families living with DMD, the data will provide important knowledge about the options and feasibilities of cross national QoL assessments in Duchenne muscular dystrophy.

Rare diseases pose many challenges. A paucity of randomised controlled trials for most conditions means that best-practice care guidelines are often non-existent or poorly developed. Where they exist, healthcare professionals may be unaware of them. Furthermore, evaluation of guidelines is difficult, as traditional methods of health-care research (such as hospital admissions and mortality statistics with ICD codes) are not applicable to rare diseases. The CARE-NMD project to improve care for Duchenne muscular dystrophy (DMD) provides an example of how Reference Networks may develop, implement and monitor rare disease guidelines. The development of the DMD care guidelines was facilitated by the US Centres for Disease Control, and led by patient organisations, translational research networks, and health agencies. In the absence of overwhelming clinical trial evidence, 84 international experts used the RAND/UCLA Appropriateness Method (RAM) to generate consensus on the necessity and appropriateness of clinical interventions and assessments. Yet despite the guidelines, many DMD patients do not receive the treatment they describe. CARE-NMD has established a Reference Network of care centres for DMD in Europe, to disseminate guidelines, evaluate current practice and identify reasons for non-compliance, and assess guideline impact on quality of life. Dissemination, via professional and patient networks, has addressed the problem of a lack of awareness of guidelines for this rare disease. Strategies have included presentations at meetings, journal and website publications, media interviews, and professional training courses tailored to local needs in East European partner countries. The ‘Family Guide’, a more accessible version of the care guidelines, is now available in over 20 languages and has been very well received. To monitor implementation, the project has conducted the largest ever cross-sectional study of DMD patients and their families (n=1677, response rate 66%) across 7 European countries. This assessed – via process and outcome indicators – whether the care they receive aligns with the consensus guidelines, and reported quality of life. In addition, a survey of healthcare professionals has been distributed to care sites in these countries via the Care and Trial Site Registry (CTSR), an online self-registration platform for neuromuscular centres developed by the TREAT-NMD network of excellence. This now includes information on patient cohort, care settings, research activities and clinical trial capabilities of more than 200 sites. A Reference Network such as CARE-NMD enables implementation, assessment and monitoring of care guidelines for rare diseases. The data it gathers will be crucial in further developing and refining guidelines.

Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy, affecting 1 in 3500 live male births. Mutations in the X chromosome result in an absence of dystrophin, causing progressive muscle degeneration and loss of ambulation by the early teens with respiratory, orthopaedic and cardiac complications. Without intervention these complications lead to death at a mean age of 19 years. However, the natural history of DMD is well-known and can be changed with proactive multidisciplinary management to address predictable complications[1]. Better care has led to a growing adult DMD population, challenging the notion of DMD as a “paediatric” disease. This population faces particular challenges, not only medical (e.g. associated with long-term steroid usage, orthopaedic, ventilation, and cardiac, gastrointestinal or genitourinary problems), but those associated with wider issues of transition. These include medical transfer from paediatric to adult services, and social transition to independent living and full societal inclusion. Transfer arrangements to adult facilities, which vary considerably between clinics and countries, are usually needed due to regulations governing access to paediatric services. As DMD requires co-ordinated care, this move from cohesive paediatric clinics to disjointed adult services is often problematic, and a successful transfer should be the culmination of a period of planned transition. Wider social transition, enabling independent living and further education/employment, is also very important[2]. However, as with many other disabilities, adults with DMD face obstacles to full participation. Planning is crucial, and preparation for adulthood should be considered in partnership with families as part of a comprehensive package of psychosocial care from diagnosis. Recent research suggests that despite legal and health frameworks, DMD transition care in the UK is highly diverse and sometimes lacking[3]. Positive experiences were characterised by forward planning and long-standing relationships between the family and healthcare professionals. In Denmark an integrated model of care is provided by the National Rehabilitation Centre for NMDs (RCfM), which supports families from diagnosis with a comprehensive programme of courses and interventions at significant life milestones[4]. Patient advocacy groups also play a very important role in transition, particularly through programmes such as the MDA Transitions Center. Although there is no one-size-fits-all model for DMD transition care, some features seem particularly important to successful transitions. These include continuity and stability in care; the integration of wider social issues; the involvement of the young man and his family in decision-making; and the support of patient advocacy groups.