BACKGROUND: Despite the growing interest in understanding the psycho-social impact of rare @entity74 , few studies examine this concept and even fewer seek to obtain feedback from families who have lived the experience. The aim of this project was to involve families of @entity1 living with @entity6926 ( @entity6926 ) in the development of a tool to assess the impact of @entity6926 on the lives of @entity1 and their families. METHODS: This project used an integrated knowledge translation approach in which knowledge users (clinicians and @entity1 living with @entity6926 and their families) were consulted throughout the four steps of development, that is: content mapping, item generation, tool appraisal and pre-testing of the questionnaires. The International Classification of Functioning and Health was used as a framework for content mapping. Based on a scoping review we selected two validated tools to use as a basis for developing the questionnaire. The final parent self-report version measured six domains: experience of diagnosis; use of health services; use of social and psychological support services; expectations about tertiary specialized centers; and socio-demographic information. RESULTS: A total of 27 out of 40 families receiving care at the Shriners Hospital for @entity1 -Canada and invited to participate in the pre-test returned the completed questionnaires. In more than two-thirds of families (69%; n = 18) @entity6926 was suspected either at or within the first 3 months after birth. Up to 46% of families consulted between 3 and 5 doctors (46%; n = 12) prior to final diagnosis. The use of services by families varied from 0 to 16 consultations, 0 to 9 exploratory examinations and 1 to 10 types of allied health services. In the 12 months prior to the study, fewer than a quarter of @entity1 had been admitted, for treatment, for hospital stays of longer than 8 hours or to an emergency department (24% and 9% respectively). Only 29% of parents received psychological support. CONCLUSION: This joint development process generated a tool, with good psychometric properties, that provides unique insight into the experiences of @entity1 and families with @entity6926 , the psycho-social impact of the illness, and their service needs and expectations.

Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the XXXX /ECE Questionnaire.

@entity1 :: ('9606', 'Species') :: ['children', 'patients', 'Children', 'people'] @entity6926 :: ('MESH:D010013', 'Disease') :: ['osteogenesis imperfecta', 'OI'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic diseases']
@entity6926 :: (MESH:D010013,Disease) :: ['OI']
