Health outcomes of neonates with osteogenesis imperfecta: a cross-sectional study

Yimgang, Doris P.; Brizola, Evelise; Shapiro, Jay R.

doi:10.3109/14767058.2016.1151870

Cited by 18 publications

(19 citation statements)

References 27 publications

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“…Yimgang et al assessed the at-birth health outcomes of 77 neonates with OI (60 with OI type I, 4 with OI type III, and 13 with OI type IV) and reported that 22% had respiratory complications in the neonatal period. 13 These data demonstrate that pulmonary disease is a major contributor to the morbidity and mortality in OI, especially in the more severe forms. To date, only six studies have systematically assessed pulmonary function using spirometry in individuals with OI.…”

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confidence: 80%

“…The burden of pulmonary disease in OI patients can be observed even during the neonatal period. Yimgang et al assessed the at‐birth health outcomes of 77 neonates with OI (60 with OI type I, 4 with OI type III, and 13 with OI type IV) and reported that 22% had respiratory complications in the neonatal period . These data demonstrate that pulmonary disease is a major contributor to the morbidity and mortality in OI, especially in the more severe forms.…”

Section: Introductionmentioning

confidence: 99%

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A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

et al. 2018

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Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV ), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV which do not follow the expected trends of the normal population. We also show that "normalization" of FVC and FEV using general population data to generate percent predicted values underestimates the pulmonary involvement in OI. Within each subtype of OI, we used linear mixed models to find potential correlations between FEV and FVC with the clinical variables including mobility, bisphosphonate use, and scoliosis. Our results are an important step in understanding the extent of pulmonary involvement in individuals with OI and for developing pulmonary endpoints for use in the routine patient care as well as in the investigation of new therapies.

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confidence: 80%

Section: Introductionmentioning

confidence: 99%

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

et al. 2018

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“…Developing data to better inform assessment and care for individuals with rare diseases is difficult; access to patients has been challenging and it can be hard to collect enough data to provide informed conclusions. One frequently recommended tool is a registry, an organized program for collection, storage, retrieval, and use of data on identifiable individuals that allows researchers to explore and define numerous health questions [25–31]. Registries are particularly useful in the care of individuals with a rare disorder as they can help patients gain a broader insight into their health status regardless of whether they have access to a major clinical center.…”

Section: Introductionmentioning

confidence: 99%

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study

Tosi

Floor

Dollar

et al. 2019

Orphanet J Rare Dis

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BackgroundPatient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventions, and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System® (PROMIS®) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status. Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers.ResultsWe demonstrated the construct validity of PROMIS instruments in OI. Our results confirm that the scores from most domains differ significantly from the general US population: individuals with OI have worse symptom burden and functioning. We found no excessive floor or ceiling effects. Our study demonstrates that the BBDC Contact Registry can be used to recruit participants for online health status surveys. However, there are numerous challenges that must be addressed: lack of self-knowledge of OI type, under-representation of men, limited ethnic diversity, and imperfect questionnaire completion rates.ConclusionOur pilot study demonstrated the feasibility of using a contact registry to recruit respondents from the OI community and to obtain analyzable PROMIS data regarding disease experience. Because the results differ from the general population and avoid excessive floor and ceiling effects, PROMIS instruments can be used to assess response to therapeutic interventions in individuals with OI. Future directions will include (1) development and validation of an OI-specific patient-based classification system that aggregates persons with similar clinical characteristics and risks for complications to identify treatment needs; and (2) integrating these PRO tools into routine patient care and research studies.Electronic supplementary materialThe online version of this article (10.1186/s13023-019-1004-x) contains supplementary material, which is available to authorized users.

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“…Developing data to better inform assessment and care for individuals with rare diseases is difficult; patients can be challenging to access and it can be hard to collect enough data to provide informed conclusions. One frequently recommended tool is a registry [25][26][27][28][29][30][31]. Registries are particularly useful in the care of individuals with a rare disorder as they can help patients gain a broader insight into their health status regardless of whether they have access to a major clinical center.…”

Section: Disease Registries and The Osteogenesis Imperfecta Patient Pmentioning

confidence: 99%

Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement

Tosi

Floor

Dollar

et al. 2018

Preprint

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Background: Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision making between clinicians and patients, and assessing patient responses to therapeutic interventions and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System ® (PROMIS ® ) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status. Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers.Results: We demonstrated the construct validity of PROMIS instruments in OI. Our results confirm that the scores from most domains differ significantly from the general US population: individuals with OI have worse symptom burden and functioning. We found no excessive floor or ceiling effects. Our study demonstrates that the BBDC Contact Registry can be used to recruit participants for online health status surveys. However, there are numerous challenges that must be addressed: lack of self-knowledge of OI type, under-representation of men, limited ethnic diversity, and imperfect questionnaire completion rates.Conclusion: Our pilot study demonstrated the feasibility of using a contact registry to recruit respondents from the OI community and to obtain analyzable PROMIS data regarding disease experience. Because the results differ from the general population and avoid excessive floor and 5 ceiling effects, PROMIS instruments can be used to assess response to therapeutic interventions in individuals with OI. Future directions will include (1) development and validation of an OIspecific patient-based classification system that aggregates persons with similar clinical characteristics and risks for complications to identify treatment needs; and (2) integrating these PRO tools into routine patient care and research studies.

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Health outcomes of neonates with osteogenesis imperfecta: a cross-sectional study

Cited by 18 publications

References 27 publications

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study

Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement

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