• Hollis Chaney, Dagmar Mekking, Danielle De Bakker, Eliezer Beeri, EekhoffE Marelise WEMWDepartment of Internal Medicine, Section Endocrinology, Amsterdam University Medical Center, Amsterdam Rare Bone Disease Center/Amsterdam Bone Center, Amsterdam, The Netherlands., Anton Franken, Otto Kamp, Dimitra Micha, Céu Barreiros, Ben Tomlow, Joost G van den Aardweg, Antonella LoMauro, and Lars Folkestad.
• Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC; Division of Pulmonary and Sleep Medicine, Children's National Hospital, Washington, DC.
• Chest. 2023 May 1; 163 (5): 120112131201-1213.

IntroductionPulmonary involvement in Osteogenesis Imperfecta (OI) can be severe but may be overlooked in milder cases. The Care4BrittleBones Foundation initiated this project to develop a set of global outcome measures focusing on respiratory-related issues in patients with OI. The objective was to reach an international consensus for a standardized set of outcomes and associated measuring instruments for the pulmonary care of individuals with OI. Based on the initial tests and questionnaires, we suggest parameters for when pulmonologists should seek guidance from the growing literature on OI pulmonary care and/or recognized experts in the field.Study Design And MethodsThe project team consisted of a multidisciplinary mix of 12 people from six countries, including an OI patient representative, and facilitated by the Care4BrittleBones Foundation director. The International Consortium for Health Outcomes Measurement (ICHOM) process was followed, which includes the Delphi method, used to collect the opinions of the expert team. Patient input was present in each meeting due to the inclusion of a patient representative. In addition, online focus groups were held. They consisted of adults with OI from different countries, and they determined which questions matter the most to the OI community worldwide.ResultsAfter three Delphi rounds, the expert team reached a consensus on the final set of measuring instruments, which included pulmonary function testing and patient self-reporting of symptoms related to breathing and sleep. Two questionnaires were decided upon: St. George's Respiratory Questionnaire (shortened version) and four questions regarding sleep. Patients should be screened for a history of pneumonia. Advanced testing for select patients by a pulmonologist would include further pulmonary function tests and a chest radiograph.ConclusionsA standardized set of outcome measures related to pulmonary care of individuals with OI was determined based on what is important to both experts and patients. This included patient-reported outcome measures and basic pulmonary function testing. Using these outcome measures, it can be determined which patients are at high risk for pulmonary complications.Copyright © 2023 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

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