title: Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire.
abstract: BACKGROUND
  Despite the growing interest in understanding the psycho-social impact of rare genetic diseases, 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 children living with osteogenesis imperfecta (OI) in the development of a tool to assess the impact of OI on the lives of patients and their families.
  
  
  METHODS
  This project used an integrated knowledge translation approach in which knowledge users (clinicians and people living with OI 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 Children-Canada and invited to participate in the pre-test returned the completed questionnaires. In more than two-thirds of families (69%; n = 18) OI 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 children 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.
  
  
  CONCLUSIONS
  This joint development process generated a tool, with good psychometric properties, that provides unique insight into the experiences of patients and families with OI, the psycho-social impact of the illness, and their service needs and expectations.
authors.affiliation: Department of Family and Emergency Medicine, Faculty of Medicine, Université Laval, Québec City, Quebec, Canada.
authors.forename: Maman Joyce
authors.initials: MJ
authors.lastname: Dogba
authors.affiliation: Office of Clinical Research, Shriners Hospital for Children, Montreal, Quebec, Canada.
authors.forename: Noémi
authors.initials: N
authors.lastname: Dahan-Oliel
authors.affiliation: School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada.
authors.forename: Laurie
authors.initials: L
authors.lastname: Snider
authors.affiliation: Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada.
authors.forename: Francis H
authors.initials: FH
authors.lastname: Glorieux
authors.affiliation: Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada.
authors.forename: Michaela
authors.initials: M
authors.lastname: Durigova
authors.affiliation: Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada.
authors.forename: Telma
authors.initials: T
authors.lastname: Palomo
authors.affiliation: Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada.
authors.forename: Michel
authors.initials: M
authors.lastname: Cordey
authors.affiliation: Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada.
authors.forename: Marie-Hélène
authors.initials: MH
authors.lastname: Bédard
authors.affiliation: Faculty of Dentistry, McGill University, Montreal, Quebec, Canada.|Department of Social and Preventive Medicine, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.
authors.forename: Christophe
authors.initials: C
authors.lastname: Bedos
authors.affiliation: Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada.
authors.forename: Frank
authors.initials: F
authors.lastname: Rauch
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D005190:Family / Q000523:psychology*; D005260:Female; D006302:Health Services Research / Q000379:methods; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000523:psychology*; D010290:Parents / Q000523:psychology; D011594:Psychometrics; D015203:Reproducibility of Results; D012944:Social Support; D011795:Surveys and Questionnaires; D057170:Translational Research, Biomedical / Q000379:methods; D055815:Young Adult