Health promotion expectations and perceptions of sport club participants.

To develop health promotion (HP) in sports clubs (SCs), stakeholders need to know the HP expectations of sports participants. However, the literature does not provide information on these aspects, which exacerbates the difficulty for SCs to provide an environment, activities and organization that promote health and to play the role entrusted to them in the integration of vulnerable populations. To fill this gap, this study explores the HP expectations and perceptions of sports participants, with a particular focus on ethnocultural characteristics, and documents participants' understanding of HP. A descriptive qualitative study comprising semi-structured interviews was carried out with 22 French and Quebec sports participants. Because they have little experience with HP in their SC, participants do not seem to have many expectations of their SC in terms of HP. Nevertheless, they felt that SCs can play an important role in health and suggested several themes and types of action, such as seminars on nutrition, activities outside the SC to develop cohesion or health monitoring. Sports participants from ethnocultural minorities seem to appreciate the programs designed to integrate them. There is a predominantly physical conception of health and the contribution of SCs to health, and the relationship between the types of health determinants (economic, environmental, organizational and social) and health is not clear. This study shows that the idea of a health-promoting SC appeals to SC participants, but this approach has not yet taken root in this setting or in society as a whole.

A Scoping Review of Risk Factors of Hypertensive Disorders of Pregnancy in Black Women Living in High-Income Countries: An Intersectional Approach.

BACKGROUND: Hypertensive disorders of pregnancy (HDP) are maternity-related increases in blood pressure (eg, gestational hypertension, preeclampsia, and eclampsia). Compared with women of other races in high-income countries, Black women have a comparatively higher risk of an HDP. Intersectionality helps to provide a deeper understanding of the multifactorial identities that affect health outcomes in this high-risk population. OBJECTIVE: In this review, we sought to explore the literature on HDP risk factors in Black women living in high-income countries and to assess the interaction of these risk factors using the conceptual framework of intersectionality. METHODS: We conducted this review using the Arksey and O'Malley methodology with enhancements from Levac and colleagues. Published articles in English on HDP risk factors with a sample of not less than 10% of Black women in high-income countries were included. Six databases, theses, and dissertations were searched from January 2000 to July 2021. A thematic analysis was used to summarize the results. RESULTS: A final total of 36 studies were included from the 15 480 studies retrieved; 4 key themes of HDP risks were identified: (1) biological; (2) individual traditional; (3) race and ethnicity, geographical location, and immigration status; and (4) gender related. These intersectional HDP risk factors intersect to increase the risk of HDP among Black women living in high-income countries. CONCLUSION: Upstream approaches are recommended to lower the risks of HDP in this population.

Patients as teachers: a within-subjects randomized pilot experiment of patient-led online learning modules for health professionals.

PURPOSE: Many health professions education programs involve people with lived experience as expert speakers. Such presentations may help learners better understand the realities of living with chronic illness or experiencing an acute health problem. However, lectures from only one or a small number of people may not adequately illustrate the perspectives and experiences of a diverse patient cohort. Additionally, logistical constraints such as public health restrictions or travel barriers may impede in-person presentations, particularly among people who have more restrictions on their time. Health professions education programs may benefit from understanding the potential effects of online patient-led presentations with a diverse set of speakers. We aimed to explore whether patient-led online learning modules about diabetes care would influence learners' responses to clinical scenarios and to collect learners' feedback about the modules. METHOD: This within-subjects randomized experiment involved 26 third-year medical students at Université Laval in Quebec, Canada. Participation in the experiment was an optional component within a required course. Prior to the intervention, participating learners responded to three clinical scenarios randomly selected from a set of six such scenarios. Each participant responded to the other three scenarios after the intervention. The intervention consisted of patient-led online learning modules incorporating segments of narratives from 21 patient partners (11 racialized or Indigenous) describing why and how clinicians could provide patient-centered care. Working with clinical teachers and psychometric experts, we developed a scoring grid based on the biopsychosocial model and set 0.6 as a passing score. Independent evaluators, blinded to whether each response was collected before or after the intervention, then scored learners' responses to scenarios using the grid. We used Fisher's Exact test to compare proportions of passing scores before and after the intervention. RESULTS: Learners' overall percentage of passing scores prior to the intervention was 66%. Following the intervention, the percentage of passing scores was 76% (p = 0.002). Overall, learners expressed appreciation and other positive feedback regarding the patient-led online learning modules. DISCUSSION: Findings from this experiment suggest that learners can learn to provide better patient-centered care by watching patient-led online learning modules created in collaboration with a diversity of patient partners.

The co-development of a linguistic and culturally tailored tele-retinopathy screening intervention for immigrants living with diabetes from China and African-Caribbean countries in Ottawa, Canada.

BACKGROUND: Diabetic retinopathy is a sight-threatening ocular complication of diabetes. Screening is an effective way to reduce severe complications, but screening attendance rates are often low, particularly for newcomers and immigrants to Canada and people from cultural and linguistic minority groups. Building on previous work, in partnership with patient and health system stakeholders, we co-developed a linguistically and culturally tailored tele-retinopathy screening intervention for people living with diabetes who recently immigrated to Canada from either China or African-Caribbean countries. METHODS: Following an environmental scan of diabetes eye care pathways in Ottawa, we conducted co-development workshops using a nominal group technique to create and prioritize personas of individuals requiring screening and identify barriers to screening that each persona may face. Next, we used the Theoretical Domains Framework to categorize the barriers/enablers and then mapped these categories to potential evidence-informed behaviour change techniques. Finally with these techniques in mind, participants prioritized strategies and channels of delivery, developed intervention content, and clarified actions required by different actors to overcome anticipated intervention delivery barriers. RESULTS: We carried out iterative co-development workshops with Mandarin and French-speaking individuals living with diabetes (i.e., patients in the community) who immigrated to Canada from China and African-Caribbean countries (n = 13), patient partners (n = 7), and health system partners (n = 6) recruited from community health centres in Ottawa. Patients in the community co-development workshops were conducted in Mandarin or French. Together, we prioritized five barriers to attending diabetic retinopathy screening: language (TDF Domains: skills, social influences), retinopathy familiarity (knowledge, beliefs about consequences), physician barriers regarding communication for screening (social influences), lack of publicity about screening (knowledge, environmental context and resources), and fitting screening around other activities (environmental context and resources). The resulting intervention included the following behaviour change techniques to address prioritized local barriers: information about health consequence, providing instructions on how to attend screening, prompts/cues, adding objects to the environment, social support, and restructuring the social environment. Operationalized delivery channels incorporated language support, pre-booking screening and sending reminders, social support via social media and community champions, and providing using flyers and videos as delivery channels. CONCLUSION: Working with intervention users and stakeholders, we co-developed a culturally and linguistically relevant tele-retinopathy intervention to address barriers to attending diabetic retinopathy screening and increase uptake among two under-served groups.

Première vague de la COVID-19 au Québec : motivation du personnel soignant à traiter des patients infectés.

INTRODUCTION: Retention of healthcare workers (HCWs) in the healthcare system during the COVID-19 pandemic could become a challenge. It is therefore important to better understand what are the motivational elements that could explain a greater or lesser motivation to care for infected patients. OBJECTIVES: To evaluate factors modulating HCWs' willingness to treat COVID-19 infected patients. METHODS: HCWs from Québec, Canada, were invited to complete an online survey during the first wave of the COVID-19 pandemic between the months of April and July 2020. The survey focused on the intention to avoid treating infected patients, prior experiences in treating COVID-19 patients and anxiety levels. Descriptive statistics and multiple regression analysis were used to assess which factors explained differences in HCWs intention to avoid treating patients. RESULTS: A total of 430 HCW completed the survey. A majority were women (87%) and nurses (50%). Of those, 12% indicated having considered measures to avoid working with COVID-19 infected patients and 5% indicated having taken actions to avoid working with infected patients. A further 18% indicated that they would use a hypothetical opportunity to avoid working with infected patients. Having previously treated infected patients was associated with a significant reduction in the intention to avoid work (OR: 0.56 CI 0.36-0.86). Amongst HCWs, physicians had a significantly reduced intention to avoid treating infected patients (OR: 0.47 CI 0.23-0.94). We also found that an increase in anxiety score was associated with a greater intention to avoid treating COVID-19 infected patients (OR: 1.06 CI 1.04-1.08). CONCLUSION: Study results suggest that previous experience in treating COVID-19 infected patients is protective in terms of work-avoidance intentions. We also found that amongst HCWs, physicians had a significantly lower intention to avoid working with COVID-19 infected patients. Finally, our results show that increase in anxiety is associated with a higher intention to avoid treating infected patients. Characterization of factors associated with low anxiety levels and low reluctance to work during the COVID-19 pandemic could be useful in staffing facilities during the present and future healthcare crisis.

Barriers to and enablers of attendance at diabetic retinopathy screening experienced by immigrants to Canada from multiple cultural and linguistic minority groups.

AIM: To identify barriers to/enablers of attendance at eye screening among three groups of immigrantsto Canada from cultural/linguistic minority groups living with diabetes. METHODS: Using a patient-oriented research approach leveraging Diabetes Action Canada's patient engagement platform, we interviewed a purposeful sample of people with type 2 diabetes who had immigrated to Canada from: Pakistan (interviews in Urdu), China (interviews in Mandarin) and French-speaking African and Caribbean nations (interviews in French). We collected and analysed data based on the Theoretical Domains Framework covering key modifiable factors that may operate as barriers to or enablers of attending eye screening. We used directed content analysis to code barrier/enabler domains. Barriers/enablers were mapped to behaviour change techniques to inform future intervention development. RESULTS: We interviewed 39 people (13 per group). Many barriers/enablers were consistent across groups, including views about harms caused by screening itself, practical appointment issues including forgetting, screening costs, wait times and making/getting to an appointment, lack of awareness about retinopathy screening, language barriers, and family and clinical support. Group-specific barriers/enablers included a preference to return to one's country of birth for screening, the impact of winter, and preferences for alternative medicine. CONCLUSION: Our results can inform linguistic and culturally competent interventions to support immigrants living with diabetes in attending eye screening to prevent avoidable blindness.

Providing culturally safe care to Indigenous people living with diabetes: Identifying barriers and enablers from different perspectives.

In recent years, cultural safety has been proposed as a transformative approach to health care allowing improved consideration of Indigenous patient needs, expectations, rights and identities. This community-based participatory study aimed to identify potential barriers and enablers to cultural safety in health care provided to Atikamekw living with diabetes in Québec, Canada. Based on a qualitative descriptive design, the study uses talking circles as a data collection strategy. Three talking circles were conducted with Atikamekw living with diabetes and caregivers, as well as with health professionals of the family medicine teaching clinic providing services to the community. Two team members performed deductive thematic analysis based on key dimensions of cultural safety. Results highlight four categories of barriers and enablers to cultural safety for Atikamekw living with diabetes, related to social determinants of health (including colonialism), health services organization, language and communication, as well as Atikamekw traditional practices and cultural perspectives of health. This study is one of the few that provides concrete suggestions to address key aspects of diabetes care in a culturally respectful way. Our findings indicate that potential enablers of cultural safety reside at different (from individual to structural) levels of change. Solutions in this matter will require strong political will and policy support to ensure intervention sustainability. PATIENT OR PUBLIC CONTRIBUTION: Partners and patients have been involved in identifying the need for this study, framing the research question, developing the data collection tools, recruiting participants and interpreting results.

A randomized clinical trial assessing a pragmatic intervention to improve supportive care for family caregivers of patients with lung cancer.

OBJECTIVE: Family caregivers (FCs) of cancer patients often experience high distress. This randomized clinical trial assessed the feasibility and preliminary effects of an intervention to improve FC supportive care. METHOD: A pragmatic and minimal intervention to improve FC supportive care was developed and pretested with FCs, oncology team, and family physicians to assess its relevance and acceptability. Then, FCs of lung cancer patients were randomized to the intervention or the control group. The intervention included (1) systematic FC distress screening and problem assessment in the first months after their relative cancer diagnosis, and every 2 months after; (2) privileged contact with an oncology nurse to address FC problems, provide emotional support and skills to play their caregiving role; (3) liaison with the family physician of FCs reporting high distress (distress thermometer score ≥4/10) to involve them in the provision of supportive care. Distress, the primary outcome, was measured every 3 months, for 9 months. Secondary outcomes included quality of life, caregiving preparedness, and perceived burden. At the end of their participation, a purposive sample of FC from the experimental group was individually interviewed to assess the intervention usefulness. Content analysis was performed. RESULTS: A total of 109 FCs participated in the trial. FC distress decreased over time, but this reduction was observed in both groups. Similar results were found for secondary outcomes. However, FCs who received the intervention felt better prepared in caregiving than controls (p = 0.05). All 10 interviewed FCs valued the intervention, even though they clearly underused it. Knowing they could contact the oncology nurse served as a security net. SIGNIFICANCE OF RESULTS: Although the intervention was not found effective, some of its aspects were positively perceived by FCs. As many of them experience high distress, an improved intervention should be developed to better support them.

The clinical microsystems approach: Does it really work? A systematic review of organizational theories of health care practices.

OBJECTIVES: Faced with increased expectations regarding the quality and safety of health care delivery systems, a number of stakeholders are increasingly looking for more efficient ways to deliver care. This study was conducted to provide a critical appraisal and synthesize the best available evidence on the impact of implementing clinical microsystems (CMS) on the quality of care and safety of the health care delivery. DATA SOURCES: A comprehensive and systematic search of 6 electronic databases, from 1998 to 2018, was conducted to identify empirical literature published in both English and French, evaluating the impact of implementing CMS in health care settings. STUDY SELECTION: We included all study designs that evaluate the impact of implementing CMS in health care settings. DATA EXTRACTION: Independent reviewers screened abstracts, read full texts, extracted data from the included studies, and appraised the methodological quality. RESULTS: Of the 1907 records retrieved, 35 studies met the inclusion criteria. The settings included general practice clinics (n = 18), specialized care units (n = 14), and emergency and ambulatory units (n = 3). The implementation of CMS helped to develop the patient-centered approach, promote interdisciplinarity and quality improvement skills, increase the fluidity of the clinical acts performed, and increase patient safety. It contributed to increasing patients' and clinicians' satisfaction, as well as reducing hospital length of stay and reducing hospital-acquired infections. The implementation of CMS also contributed to the development and refinement of diagnostic tools and measurement instruments. CONCLUSION: The CMS approach is unique because of the primacy given to the quality of care offered and the safety of patients over any other consideration, and its ability to redesign health care delivery systems. Efforts still need to be made to legitimize the approach in various health care settings worldwide.

Enhancing interprofessionalism in shared decision-making training within homecare settings: a short report.

Training in shared decision-making (SDM) often focuses solely on dyadic relationships between one healthcare provider and one patient. However, many healthcare decisions often involve two or more health professionals. These decisions warrant utilizing an interprofessional shared decision-making (IP-SDM) approach which enables patients and their caregivers to face difficult decisions around care together. Most existing SDM training programs fall short when building interprofessional (IP) competencies and require an approach that integrates IP with SDM. This short report discusses the creation and trial implementation of three enhanced education tools (a video, role-play exercise with decision aid, and an IP observation aid) for an IP-SDM workshop focused on helping homecare teams collaborate with seniors and their caregivers throughout the decision-making process. We developed and implemented these tools in eight study sites of a larger randomized control trial to test the training workshop for homecare teams. The workshop and tools helped participants overcome interprofessional challenges in their work. Participants evaluated the tools and workshop, which offered guidance to better translate teachable IP collaboration competencies within SDM.

Psychostimulants for cancer-related cognitive impairment in adult cancer survivors: a systematic review and meta-analysis.

BACKGROUND: Cognitive impairment is recognized as a common symptom experienced by cancer survivors which impacts on quality of life (QoL) and day-to-day activities. One of the treatment options is the use of psychostimulants but the evidence supporting its use remains unclear. OBJECTIVES: To identify the level of evidence of psychostimulants' effect on the management of cognitive impairment in adult cancer survivors. METHODS: Electronic databases (MEDLINE, EMBASE, CENTRAL, CINAHL) and reference lists of relevant reviews were searched from inception to December 2017, with no language restrictions applied. Randomized controlled trials (RCTs), evaluating the effect of psychostimulants on cognitive impairment among cancer patients with no primary or secondary brain tumor or brain radiation, were included. The primary outcome was cognitive function changes, whereas secondary outcomes were adverse events (AEs) and QoL. RESULTS: Six RCTs were included: three studies investigating methylphenidate and three modafinil, with a total of 244 and 146 patients, respectively. Due to important differences in methodologies between studies, a meta-analysis was assumed inappropriate for the primary outcome. A narrative synthesis was performed. One study using methylphenidate and two using modafinil demonstrated improvements in some cognitive functions as measured by objective cognitive assessment tests. Psychostimulants did not improve QoL and were not associated with more AEs. CONCLUSION: To date, limited evidence is available to estimate the usefulness (or lack) of psychostimulants on cognitive function in this population.

Using information and communication technologies to involve patients and the public in health education in rural and remote areas: a scoping review.

BACKGROUND: Patient and public involvement (PPI) in health education is a practice whereby research and education are carried in collaboration 'with' patients and/or citizens, maintaining their role as a team member or expert. PPI in health education is of great interest for all stakeholders in the field, as it can make program development more relevant to the public and increase its utilization by the target population. However, little is known about how PPI should be implemented in different settings particularly in rural and remote areas. Therefore, a deeper understanding of how PPI works in different environments is needed. We aim to explore how information and communication technologies (ICT) are used for PPI in health education programs in rural and remote areas. METHODS: We performed a scoping review. Two reviewers independently selected 641 studies from five electronic databases. Data were extracted, charted and validated by the senior researcher and study lead. We performed a narrative synthesis to map the literature. RESULTS: Of the initial 641 articles identified, 5 fit the eligibility criteria. Most of the studies targeted community members at large. Consultation and collaboration were the main levels of PPI, which included communities at large and specific at-risk groups. The main forms of ICT used were telephone and Internet, followed by teleconferences, electronic health records, and weblogs. No study measured the effectiveness of ICT for involving patients in health education in rural and remote areas. CONCLUSION: Telephone and Internet were the most frequently used forms of PPI in health education in rural areas with consultation and collaboration as the main levels of PPI there. No study measured the impact of ICT for PPI in health education in rural areas. Due to this, measuring the impact of ICT in rural and remote areas as a means for PPI in health education of medical students, health professionals and patients requires further study.

Exploring the role of teams and technology in patients' medication decision making.

OBJECTIVES: We know little about how electronic health records (EHRs) should be designed to help patients, pharmacists, and physicians participate in interprofessional shared decision making. We used a qualitative approach to understand better how patients make decisions with their health care team, how this information influences decision making about their medications, and finally, how this process can be improved through the use of EHRs. DESIGN: Participants from 4 regions across Canada took part in a semistructured interview and completed a brief demographic survey. The interview transcripts were thematically analyzed by means of the multidisciplinary framework method. SETTINGS AND PARTICIPANTS: Thirty participants, 18 years of age and older with at least one chronic illness, were recruited from across Canada. We interviewed participants in their homes, at the school of pharmacy, or another location of their choosing. RESULTS: We identified 4 main themes: (1) complexity of patient decision making: who, where, what, when, why; (2) relationships with physicians and pharmacists: who do I trust for what?; (3) accessing health information for decision making: how much and from where?; and (4) patients' methods of managing information for health decision making. Across the themes, participants appreciated expert advice from professionals and wanted to be informed about all options, despite concerns about limited knowledge. EHRs were perceived as a potential solution to many of the barriers identified. CONCLUSION: Patients make decisions with their health care providers as well as with family and friends. The pharmacist and physicians play different roles in helping patients in making decisions. We found that making EHRs accessible not only to health care providers but also to patients can provide a cohesive and clear context for making medication-related decisions. EHRs may facilitate clear communication, foster interprofessional understanding, and improve patient access to their health information. Future research should examine how to develop EHRs that are adaptive to user needs and desires.

Diabetes-related complications: Which research topics matter to diverse patients and caregivers?

BACKGROUND: Diabetes is a chronic disease with increasing prevalence worldwide. Although research has improved its treatment and management, little is known about which research topics matter to people living with diabetes, particularly among under-represented groups. OBJECTIVES: To explore the importance of research topics among a diverse range of people living with any type of diabetes or caring for someone living with any type of diabetes. METHODS: We used a convergent mixed-method design with quantitative and qualitative aspects. We surveyed a national sample of people living with diabetes and caregivers of people with diabetes, asking them to rate the importance of 10 predetermined important research topics. We also held three focus groups in two major cities to explore research concerns of people who are under-represented in research. RESULTS: 469 adults (57% men, 42% women) in Canada completed the online survey, indicating that all 10 areas of research mattered to them, with the highest ratings accorded to preventing and treating kidney, eye and nerve complications. Fourteen individuals participated in three focus groups and similarly noted the importance of research on those three complications. Additionally, focus group participants also noted the importance of research around daily management. No new topics were identified. CONCLUSIONS: This study confirmed the importance of research topics among a population of people living with or caring for someone with diabetes. Findings from this study were used to inform the vision for Diabetes Action Canada-a pan-Canadian Strategy for Patient-Oriented Research (SPOR) Network on diabetes and its complications.

Approaches to considering sex and gender in continuous professional development for health and social care professionals: An emerging paradigm.

Consideration of sex and gender in research and clinical practice is necessary to redress health inequities and reduce knowledge gaps. As all health professionals must maintain and update their skills throughout their career, developing innovative continuing professional education programs that integrate sex and gender issues holds great promise for reducing these gaps. This article proposes new approaches to partnership, team development, pedagogical theory, content development, evaluation and data management that will advance the integration of sex and gender in continuing professional development (CPD). Our perspectives build on an intersectoral and interprofessional research team that includes several perspectives, including those of CPD, health systems, knowledge translation and sex and gender.

Involving members of vulnerable populations in the development of patient decision aids: a mixed methods sequential explanatory study.

BACKGROUND: Patient decision aids aim to present evidence relevant to a health decision in understandable ways to support patients through the process of making evidence-informed, values-congruent health decisions. It is recommended that, when developing these tools, teams involve people who may ultimately use them. However, there is little empirical evidence about how best to undertake this involvement, particularly for specific populations of users such as vulnerable populations. METHODS: To describe and compare the development practices of research teams that did and did not specifically involve members of vulnerable populations in the development of patient decision aids, we conducted a secondary analysis of data from a systematic review about the development processes of patient decision aids. Then, to further explain our quantitative results, we conducted semi-structured telephone interviews with 10 teams: 6 that had specifically involved members of vulnerable populations and 4 that had not. Two independent analysts thematically coded transcribed interviews. RESULTS: Out of a total of 187 decision aid development projects, 30 (16%) specifically involved members of vulnerable populations. The specific involvement of members of vulnerable populations in the development process was associated with conducting informal needs assessment activities (73% vs. 40%, OR 2.96, 95% CI 1.18-7.99, P = .02) and recruiting participants through community-based organizations (40% vs. 11%, OR 3.48, 95% CI 1.23-9.83, P = .02). In interviews, all developers highlighted the importance, value and challenges of involving potential users. Interviews with developers whose projects had involved members of vulnerable populations suggested that informal needs assessment activities served to center the decision aid around users' needs, to better avoid stigma, and to ensure that the topic truly matters to the community. Partnering with community-based organizations may facilitate relationships of trust and may also provide a non-threatening and accessible location for research activities. CONCLUSIONS: There are a small number of key differences in the development processes for patient decision aids in which members of vulnerable populations were or were not specifically involved. Some of these practices may require additional time or resources. To address health inequities, researchers, communities and funders may need to increase awareness of these approaches and plan accordingly.

Exploring family physicians' reasons to continue or discontinue providing intrapartum care: Qualitative descriptive study.

OBJECTIVE: To examine the reasons why family physicians continue or discontinue providing intrapartum care in their clinical practice. DESIGN: Qualitative descriptive study. SETTING: Two hospitals located in a multicultural area of Montreal, Que, in November 2011 to June 2012. PARTICIPANTS: Sixteen family physicians who were current or former providers of obstetric care. METHODS: Data were collected using semistructured qualitative interviews. Thematic analysis was used to analyze the interview transcripts. MAIN FINDINGS: Three overarching themes that help create understanding of why family doctors continue to provide obstetric care were identified: their attraction, often initiated by role models early in their careers, to practising complete continuity of care and accompanying patients in a special moment in their lives; the personal, family, and organizational pressures experienced while pursuing a family medicine career that includes obstetrics; and their ongoing reflection about continuing to practise obstetrics. CONCLUSION: The practice of obstetrics was very attractive to family physician participants whether they provided intrapartum care or decided to stop. More professional support and incentives might help keep family doctors practising obstetrics.

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.

From pediatric to adult care: strategic evaluation of a transition program for patients with osteogenesis imperfecta.

BACKGROUND: Achieving a successful transition from pediatric to adult care for young adults with special needs, especially rare genetic diseases such as osteogenesis imperfecta (OI), is a prominent issue in healthcare research. This transition represents a challenge for patients with OI, their families, clinicians and healthcare managers because of the complex nature of the process and the lack of evaluation of existing transition programs. We evaluated a transition program for adolescents and young adults with OI from a pediatric orthopedic hospital to adult care. METHODS: Data were collected by interview, observation, and document review from April 2013 to October 2013. Participants included six patients with OI, four parents, and 15 staff, including administrators, coordinators, social workers, nurses, pediatricians, surgeons, occupational therapists and physiotherapists. A SWOT (Strengths, Weaknesses, Opportunities and Threats) analysis was performed. RESULTS: The strengths of the transition program included a solid theoretical approach based on a partnership with parents, and a comprehensive transition model based on fostering independent living and professional integration. The program's main weaknesses were the successive organizational changes and discontinuation of certain transition activities, and the potential conflict between the transition program and participation in research protocols. Further opportunities include the implementation of a multi-site transition model with cross-site personnel and user evaluations, with the inclusion of second-generation patients. Dissatisfaction reported by some care-team members at the adult care hospital could threaten collaboration among institutions involved in the transition process, whereas dissatisfaction of some former patients may reduce their perceptions of quality of care received during the transition. CONCLUSIONS: This study confirmed that a "one-size-fits-all" transition model for patients with OI would be inappropriate across, or even within institutions. Opportunities should be seized to create tailored, theoretically-sound transition programs that reflect patient preferences, especially those of young adults with complex and chronic health conditions. Alignment with other organizational activities should be considered, and ongoing evaluation of transition programming may be required. This SWOT analysis and utilization-focused evaluation has led to a comprehensive new project to improve the transition program for patients with OI and other conditions requiring special follow-up.

The impact of severe osteogenesis imperfecta on the lives of young patients and their parents - a qualitative analysis.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder that causes increased bone fragility. Living with, caring for, and parenting a child with OI are all highly demanding and challenging. This study is a temporal analysis of the impact of severe OI on the lives of young patients and their parents. METHODS: This study was carried out at the Shriners Hospital for Children, a pediatric orthopedic hospital located in Montreal, Canada. Using qualitative interpretative description, we conducted semi-structured interviews with 24 subjects - 12 young patients diagnosed with severe OI and 12 of their parents. The interview data were subject to a predominantly inductive open thematic analysis and a temporal comparative analysis. We did a retrospective chart review to complement our data collection. RESULTS: We found that the impact of severe OI on the young patients and their parents was characterized by four themes: 1) Starting at the time of diagnosis, a series of stages shaped life and the return to every day "normal", 2) Living with OI was full of "ups and downs" throughout life, 3) Every day "normal" life with OI consisted of significant changes for parents and challenges for the whole family, and 4) Living with OI generated some positive experiences. CONCLUSION: This study contributes to a better theoretical understanding of the impact of severe OI on families. It also has some practical implications for the development of effective support systems for patients with severe OI and their families.