Universität zu Köln

Nijhuis, Wouter ORCID: 0000-0001-6683-7549, Franken, Anton, Ayers, Kara, Damas, Chantal, Folkestad, Lars, Forlino, Antonella, Fraschini, Paolo, Hill, Claire, Janus, Guus, Kruse, Richard, Wekre, Lena Lande, Michiels, Lieve, Montpetit, Kathleen, Panzeri, Leonardo, Porquet-Bordes, Valerie, Rauch, Frank ORCID: 0000-0002-6261-0360, Sakkers, Ralph, Salles, Jean-Pierre, Semler, Oliver, Sun, Jony, To, Michael, Tosi, Laura, Yao, Yangyang, Yeung, Eric Hiu Kwong, Zhytnik, Lidiia, Zillikens, Maria Carola and Verhoef, Marjolein (2021). A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta. Orphanet J. Rare Dis., 16 (1). LONDON: BMC. ISSN 1750-1172

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Abstract

BackgroundOsteogenesis Imperfecta (OI) is a genetic disorder also known as 'brittle bone disease'. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to a non-standardized and wide variation of patient outcomes thus making the comparison of outcome measures available in the literature difficult. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of OI that comparisons across interdisciplinary treatment centers for OI will be possible in the future.MethodsThe Key4OI international interdisciplinary working group of 27 members used a consensus-driven modified Delphi approach to develop a set of global outcome measures for patients with OI. The International Classification of Functioning, Disability and Health (ICF), was used to define domains and organize the outcomes from the literature search. After reviewing the outcomes extracted from the literature, trials and registries, the working group agreed on a final selection of domains and their definition (ICF definition as well as a lay description). These domains were then presented to the focus groups who prioritized the outcome domains by taking into account the items important to the OI community. All content was collected and analyzed and final domains were determined. A consensus of appropriate measuring instruments for each domain was reached with Delphi rounds. The entire approach was in line with the International Consortium for Health Outcomes Measurement ICHOM methodology.ResultsMore than 400 different outcome measures were identified in our literature search. After three Delphi rounds, 24 domains were selected. After the focus group sessions, the number of domains were reduced to 15. A consensus was reached on the measuring instruments to cover these domains for both children and adults.ConclusionThe Key4OI project resulted in standard set of outcome measures focused on the needs and wishes of individuals with OI and their families. This outcome set will enable healthcare teams and systems to compare and to improve their care pathways and quality of care worldwide. Further studies are needed to evaluate the implementation of this standardized outcome set.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Nijhuis, Wouter UNSPECIFIED orcid.org/0000-0001-6683-7549 UNSPECIFIED Franken, Anton UNSPECIFIED UNSPECIFIED UNSPECIFIED Ayers, Kara UNSPECIFIED UNSPECIFIED UNSPECIFIED Damas, Chantal UNSPECIFIED UNSPECIFIED UNSPECIFIED Folkestad, Lars UNSPECIFIED UNSPECIFIED UNSPECIFIED Forlino, Antonella UNSPECIFIED UNSPECIFIED UNSPECIFIED Fraschini, Paolo UNSPECIFIED UNSPECIFIED UNSPECIFIED Hill, Claire UNSPECIFIED UNSPECIFIED UNSPECIFIED Janus, Guus UNSPECIFIED UNSPECIFIED UNSPECIFIED Kruse, Richard UNSPECIFIED UNSPECIFIED UNSPECIFIED Wekre, Lena Lande UNSPECIFIED UNSPECIFIED UNSPECIFIED Michiels, Lieve UNSPECIFIED UNSPECIFIED UNSPECIFIED Montpetit, Kathleen UNSPECIFIED UNSPECIFIED UNSPECIFIED Panzeri, Leonardo UNSPECIFIED UNSPECIFIED UNSPECIFIED Porquet-Bordes, Valerie UNSPECIFIED UNSPECIFIED UNSPECIFIED Rauch, Frank UNSPECIFIED orcid.org/0000-0002-6261-0360 UNSPECIFIED Sakkers, Ralph UNSPECIFIED UNSPECIFIED UNSPECIFIED Salles, Jean-Pierre UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED Sun, Jony UNSPECIFIED UNSPECIFIED UNSPECIFIED To, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Tosi, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Yao, Yangyang UNSPECIFIED UNSPECIFIED UNSPECIFIED Yeung, Eric Hiu Kwong UNSPECIFIED UNSPECIFIED UNSPECIFIED Zhytnik, Lidiia UNSPECIFIED UNSPECIFIED UNSPECIFIED Zillikens, Maria Carola UNSPECIFIED UNSPECIFIED UNSPECIFIED Verhoef, Marjolein UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-604099
DOI:	10.1186/s13023-021-01682-y
Journal or Publication Title:	Orphanet J. Rare Dis.
Volume:	16
Number:	1
Date:	2021
Publisher:	BMC
Place of Publication:	LONDON
ISSN:	1750-1172
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Genetics & Heredity; Medicine, Research & Experimental Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/60409