Psychosocial wellbeing among children and adults with arthrogryposis: a scoping review.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a group of congenital conditions characterized by joint contractures in two or more body areas. Management of AMC starts early in life and focuses on improving mobility and function through intensive rehabilitation and surgical interventions. Psychosocial wellbeing is an important determinant of health and the psychosocial experience of individuals with AMC should be considered in the management of this condition. The aim of this scoping review was to explore what is known about the psychosocial wellbeing of children and adults with AMC, to identify the outcome measures used and to explore the factors associated with psychosocial outcomes in this population. METHODS: A comprehensive search in four databases was conducted. Articles discussing psychosocial outcomes and outcome measures used with children or adults with AMC were included. Data on the measures used, psychosocial outcomes, and factors associated with psychosocial outcomes, were extracted and analyzed descriptively and synthesized narratively. RESULTS: Seventeen articles were included in this scoping review, ten including the pediatric population, six including adults and one article including both children and adults with AMC. The most commonly used outcome measures were the PODCI in the pediatric studies, and the SF-36 in studies on adults. In the pediatric studies, psychosocial outcomes were often secondary, compared to the studies on adults. Results showed that in both children and adults, psychosocial outcomes are comparable with the levels of the general population. Qualitative studies reflected the affective needs of this population and issues with emotional wellbeing. Factors such as fatigue and pain were associated with poorer psychosocial outcomes in adults with an impact on social relationships, intimacy and family planning. CONCLUSION: Validated outcome measures, qualitative approaches and longitudinal studies are needed to better understand the psychosocial outcomes in AMC over time. Psychosocial support should be part of the multidisciplinary management of AMC throughout the lifespan.

A Best Practice Initiative to Optimize Transfer of Young Adults With Osteogenesis Imperfecta From Child to Adult Healthcare Services.

PURPOSE: The aims of this study were (1) to review the current body of knowledge on the transition experiences of adolescents with osteogenesis imperfecta (OI) and appraise the evidence available on transfer summary tools, (2) to develop guidelines for the successful transition of adolescents with OI from child to adult healthcare services, and (3) to create a transfer tool tailored to adolescents with OI. DESIGN AND METHODS: This knowledge synthesis study was overseen by an interprofessional expert task force at Shriners Hospitals for Children-Canada and entailed (1) review of the literature, (2) development of guidelines, and (3) creation of a tool. RESULTS: The tool was created from evidence compiled from case reports, clinical examples, and nonexperimental studies. CONCLUSION: The transfer tool proposes guidelines designed to facilitate a smooth transition from child to adult healthcare services. It also offers creation of a clinically meaningful, person-focused, OI transfer tool that may in turn help improve the transition experience for adolescents. This study significantly contributes to the dearth of literature on transition experiences in OI and on transfer tools in general. Future research is needed to evaluate the implementation and evaluation of the OI transfer tool in practice.

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.