Référence bibliographique 
Dogba, Maman Joyce, Dahan-Oliel, Noémi, Snider, Laurie, Glorieux, Francis H., Durigova, Michaela, Palomo, Telma, Cordey, Michel, Bédard, Marie-Hélène, Bedos, Christophe et Rauch, Frank. 2016. «Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire ». PLoS ONE, vol. 11, no 1, p. 1-11.
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«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.» (p. 1)
L’étude est basée sur la participation de 27 familles dont un enfant atteint de OI recevait des soins à l’Hôpital Shriners pour enfants de Montréal.
Type de traitement des données :
«This study used an IKT [integrated knowledge translation] approach to involve knowledge users […] in the development of a tool to map out the experiences of patients with OI and their families, and to understand their expectations and the challenges they face in seeking diagnosis and care. [T]he tool provides a comprehensive picture of the family and the patient experience in obtaining a diagnosis and their satisfaction with medical services. Findings from the pre-test showed that although most families have a generally “good” experience (i.e. in obtaining a diagnosis and in their satisfaction with the process and the services they receive), a small number report major difficulties (i.e. investigated by authorities, consulted a large number of doctors, received many services, expectations not met). [F]ollowing the pre-test families reported that improvements to the layout, length, and item clarity could promote its routine use. [B]ecause of the complicated and long-term nature of the disease and the psycho-social and financial burden it places on families, the management of OI requires a multidisciplinary approach that not only includes clinicians, but also social and support services throughout the life course.» (p. 9)