Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta

Murali, Chaya N.; Cuthbertson, David; Slater, Brady; Nguyen, Dianne; Turner, Alicia; Harris, G.F.; Sutton, V. Reid; Lee, Brendan; Rauch, Frank; Glorieux, Francis H.; Retrouvey, Jean Marc; Esposito, Paul W.; Rush, Eric T.; Bober, Michael B.; Eyre, David R.; Gomez, Danielle; Hart, Tracy; Jain, Mahim; Krakow, Deborah; Krischer, Jeffrey P.; Orwoll, Eric S.; Raggio, Cathleen; Smith, Peter A.; Tosi, Laura L.; Nagamani, Sandesh C.S.

doi:10.1038/s41436-019-0688-6

Cited by 16 publications

(21 citation statements)

References 36 publications

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“…20 Therefore, to understand the utility of SF-12v2 in OI, we utilized data from a large cohort of adults Our group has previously validated a generic PROM, the PODCI, for use in children with OI. 14 Similar to our findings on the PODCI, this study revealed that PCS scores were representative of the known clinical severity of OI, with the mean score in OI type III (severe) being the lowest (worst) and mean scores in OI type I (mild) being the highest.…”

Section: Clinical Trial Readinesssupporting

confidence: 88%

“…[9][10][11][12][13] To address the paucity of validated PROMs for rare skeletal disorders, our group recently investigated the utility of the pediatric outcomes data collection instrument (PODCI), a generic functional status PROM used in children with musculoskeletal disorders, in children with OI. [14][15][16] Using data from a large, multicenter, observational, natural history study of OI conducted by the National Institutes of Health (NIH) Rare Disease Clinical Research Network's (RDCRN) Brittle Bone Disorders Consortium (BBDC), we analyzed PODCI responses from 418 children with OI. We showed that this generic PROM was a useful measure of physical function in children with OI and that the physical function scores correlated with corresponding scales of an observer-rated outcome measure, the Brief Assessment of Motor Function.…”

Section: Introductionmentioning

confidence: 99%

“…We showed that this generic PROM was a useful measure of physical function in children with OI and that the physical function scores correlated with corresponding scales of an observer-rated outcome measure, the Brief Assessment of Motor Function. 14,17 Using these data, we were also able to estimate the sample sizes that would be required in clinical trials to detect clinically meaningful changes in physical function in children with OI.…”

Section: Introductionmentioning

confidence: 99%

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Health‐related quality of life in adults with osteogenesis imperfecta

et al. 2021

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Patient-reported outcome measures (PROMs) are increasingly utilized as endpoints in clinical trials. The Short Form Health Survey-12 (SF-12v2) is a generic PROM for adults. We sought to evaluate the validity of SF-12v2 in adults with osteogenesis imperfecta (OI). Physical and mental health-related quality of life (HRQoL) were assessed in a large cohort of adults in a multicenter, observational, natural history study. Physical HRQoL scores were correlated with the Gillette Functional Assessment Questionnaire (GFAQ). We calculated sample sizes required in clinical trials with crossover and parallel-group designs to detect clinically meaningful changes in physical HRQoL. Three hundred and two adults with OI types I, III, and IV were enrolled.Physical HRQoL scores in the study population were lower than population norms.Physical HRQoL scores moderately correlated with GFAQ for OI types I and IV. We found no correlations between mental and physical HRQoL. From a clinical trial readiness perspective, we show that SF-12v2 reliably measures physical function in adults with OI and can be utilized in crossover trials to detect meaningful physical HRQoL changes with small sample sizes. This study shows that SF-12v2 can be used to measure changes in physical HRQoL in response to interventions in OI.

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Section: Clinical Trial Readinesssupporting

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Health‐related quality of life in adults with osteogenesis imperfecta

et al. 2021

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“…Furthermore, updated research demonstrated that the pediatric outcomes data collection instrument could be a reliable measure of physical functioning in children with OI (34). It offers valuable information about patient-reported systemic health status.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Locking Plate for Cubitus Varus Correction in a 7-Year-Old Girl With Osteogenesis Imperfecta

et al. 2022

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Background: Cubitus varus deformity is a common complication of untreated elbow fractures in children. However, cubitus varus in osteogenesis imperfecta (OI) children is a rare but challenging situation. To the author's knowledge, this is the first study discussing the correction of cubitus varus deformity in patient with OI.Case Presentation: Here we report a case of a 7-year-old OI girl with cubitus varus deformity due to a supracondylar fracture of humerus 3 year ago. The patient's parent gave a history of supracondylar fracture of left humerus in 2015. Without medical intervention, the patient was admitted into our institution for corrective surgery with the diagnosis of osteogenesis imperfecta and cubitus varus deformity in the left arm.Result: Medications including calcium, vitamin D and bisphosphonates were administered before the corrective surgery of cubitus varus, and a single locking plate was used to fixate the osteotomy. After the surgery, the appearance and range of motion (ROM) of the left arm was almost normal. Combined with gradual rehabilitation, the ROM of the left arm was normal without pain during daily use within the 1-year follow up. The hardware was removed as the nailing of the forearm fractures was performed at the same time. In the latest follow-up in September 2021, the appearance and ROM of the left arm was normal.Conclusion: Cubitus varus is a common deformity in children with elbow injuries, but it presents a challenging situation in compound fractures in OI patients. Locking plate combined with meticulous pharmacological intervention provides a good option for corrective surgery of cubitus varus in patients with OI.

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“…Publicly funded gene screening is offered to New Zealand breast cancer patients by Genetic Health Service New Zealand (GHSNZ) if they fulfil testing criteria provided by eviQ Cancer Genetics (Breast and Ovarian Referral Guidelines— https://www.eviq.org.au/ ). Based on these guidelines, individuals may meet criteria based on their tumour pathology (negative status for oestrogen receptor, progesterone receptor and ERBB2/HER2 expression), or where a BRCA1 and BRCA2 pathogenic variant probability of 10% or more is calculated using a validated pathogenic variant prediction tool, such as the BOADICEA assessment programme [ 10 ]. Currently, approximately 9% of eligible New Zealand patients who have undergone genetic screening were found to carry a clinically actionable genetic variant in BRCA1 or BRCA2 .…”

Section: Introductionmentioning

confidence: 99%

Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients

Lattimore

Parsons

Spurdle

et al. 2020

Breast Cancer Res Treat

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Background Diagnostic screening for pathogenic variants in breast cancer susceptibility genes, including BRCA1, BRCA2, PALB2, PTEN and TP53, may be offered to New Zealanders from suspected high-risk breast (and ovarian) cancer families. However, it is unknown how many high-risk pathogenic variant carriers in New Zealand are not offered genetic screening using existing triage tools and guidelines for breast (and ovarian) cancer patients. Methods Panel-gene sequencing of the coding and non-coding regions of the BRCA1 and BRCA2 genes, and the coding regions and splice sites of CDH1, PALB2, PTEN and TP53, was undertaken for an unselected cohort of 367 female breast cancer patients. A total of 1685 variants were evaluated using the ENIGMA and the ACMG/AMP variant classification guidelines. Results Our study identified that 13 (3.5%) breast cancer patients carried a pathogenic or likely pathogenic variant in BRCA1, BRCA2, PALB2, or PTEN. A significantly higher number of pathogenic variant carriers had grade 3 tumours (10/13) when compared to non-carriers; however, no other clinicopathological characteristics were found to be significantly different between (likely) pathogenic variant carriers and non-carriers, nor between variant of unknown significance carriers and non-carriers. Notably, 46% of the identified (likely) pathogenic variant carriers had not been referred for a genetic assessment and consideration of genetic testing. Conclusion Our study shows a potential under-ascertainment of women carrying a (likely) pathogenic variant in a high-risk breast cancer susceptibility gene. These results suggest that further research into testing pathways for New Zealand breast cancer patients may be required to reduce the impact of hereditary cancer syndromes for these individuals and their families.

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Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta

Cited by 16 publications

References 36 publications

Health‐related quality of life in adults with osteogenesis imperfecta

Health‐related quality of life in adults with osteogenesis imperfecta

Case Report: Locking Plate for Cubitus Varus Correction in a 7-Year-Old Girl With Osteogenesis Imperfecta

Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients

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