Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper.

Arthrogryposis multiplex congenita (AMC) is considered a rare disorder resulting in multiple congenital contractures in two or more areas. Considerable literature is available on managing the contractures during an affected child's development but little information is available to those managing these ongoing issues in adulthood. Due to the heterogeneity etiological factors and presentation of AMC, and the small sample sizes of previous studies, it has been difficult to generalize results to the adult population. This current study presents the several steps taken to create an international AMC database for adults to populate with their own data over time. The methods included a scoping review of the literature for valid and reliable outcome measures used for AMC, a Delphi methodology to create the database with a team of clinicians, researchers and patients, a Beta testing of the database, and a final launch of the Adult AMC Registry. This registry includes 48 nonstandardized questions and 12 standardized questionnaires. It takes 35-45 min for a participant to complete. A shorter version will be created for participants to complete for years 2 and 3, followed by this longer version every 4 years. The protocol for referring English-speaking patients and access to the registry is provided. Data will be reviewed every year to ensure quality. The registry will be maintained for a minimum of 10 years and data will be comprehensively analyzed every 5 years. Our goal is to have 500 adults with AMC from around the world as participants.

Quality of life in osteogenesis imperfecta: A mixed-methods systematic review.

Clinical interventions and research have mostly focused on the orthopedic, genetic, and pharmacological outcomes of individuals with osteogenesis imperfecta (OI), and although quality of life (QoL) has gained recognition as an important patient-outcome, it has received little attention in individuals with OI. This mixed-methods systematic review of the literature included five search engines and identified a total of 212 articles. Once study eligibility was reviewed, 10 studies met the inclusion criteria and were included in this mixed-methods review (9 quantitative and 1 qualitative). Among the 10 included QoL studies, six reported on children with OI, three on adults with OI, and one on the parents of children with OI. Physical QoL in children and adults with OI appears to be less than that of the general population, with individuals with more severe OI types reporting worse QoL. On the other hand, mental and psychosocial QoL is the same or better in individuals with OI than that of the general population. Pain, scoliosis activity limitations and participation restrictions due to decreased function are associated with lower levels of physical QoL. Researchers must agree on a definition of QoL as it relates to OI and use validated measures appropriate for evaluating QoL in OI. Pediatric studies should consider both the child and the parent's QOL perceptions as these may differ. QoL in the adult population should not be dismissed in order to offer proper client-centered interventions throughout the lifespan.

Perceptions of family-centred services in a paediatric rehabilitation programme: strengths and complexities from multiple stakeholders.

BACKGROUND: Family-centred services (FCS) are best practice in paediatric rehabilitation and describe philosophies and approaches to medical care that emphasize the partnership and involvement of parents. While evidence supports FCS, there are complexities to its successful implementation. This mixed-methods study aimed to measure the extent to which parents and the healthcare provider (HCP) perceive service provision as being family centred, and to describe barriers and facilitators to the delivery of FCS. METHODS: Parents of children participating in a rehabilitation programme and HCPs providing services participated in this study. Parents completed the measure of processes of care-20 and participated in interviews, while HCPs completed the measure of processes of care-service providers and participated in a focus group. RESULTS: Quantitative analysis revealed that parents were mostly satisfied with features of FCS, which included communication and support between parents and HCPs, respect of diversity and parental collaboration and participation. Parents identified communication methods and psychosocial needs as areas that facilitated but sometimes detracted from FCS. Institutional barriers led to the identification of areas for improvement identified by multiple stakeholders. HCPs identified more areas for improvement than parents. CONCLUSION: When considering these barriers, it is evident that implementation is a complex process, impacted by institutional barriers. FCS needs to be investigated further, and systemic interventions should be used to facilitate its implementation.