Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review

Hill, Melissa; Lewis, Colin M.; Riddington, Megan; Crowe, Belinda; DeVile, Catherine; Chitty, Lyn S.

doi:10.1016/j.dhjo.2018.12.003

Cited by 17 publications

(27 citation statements)

References 40 publications

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“…Not treating pain might affect patients' QoL, sleep, and mental health (Hill et al, 2014; Nghiem et al, 2017; Swezey et al, 2019) and negatively affect families. Moreover, having adequate treatment for their children had positively impacted parents' confidence (Hill et al, 2019). However, pain management can be complex in OI.…”

Section: Discussionmentioning

confidence: 99%

“…Pain negatively impacts the quality of life (QoL) and distresses OI individuals' families(Dahan‐Oliel et al, 2016; Hill et al, 2014, 2019). However, many studies highlighted the lack of information about the effectiveness of treatment options for pain in pediatric populations with OI (Dwan et al, 2016; Nghiem et al, 2017; Rodriguez Celin, Simon, et al, 2020; Tsimicalis et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

“…Pain negatively impacts the quality of life (QoL) and distresses OI individuals' families (Dahan-Oliel et al, 2016;Hill et al, 2014Hill et al, , 2019.…”

Section: Introductionmentioning

confidence: 99%

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A multicenter study to evaluate pain characteristics in osteogenesis imperfecta

Celin

Kruger

Caudill

et al. 2022

American J of Med Genetics Pt A

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The objective was to describe pain characteristics and treatments used in individuals with varying severity of osteogenesis imperfecta (OI) and investigate pain‐associated variables. This work was derived from a multicenter, longitudinal, observational, natural history study of OI conducted at 12 clinical sites of the NIH Rare Diseases Clinical Research Network's Brittle Bone Disorders Consortium. Children and adults with a clinical, biochemical, or molecular diagnosis of OI were enrolled in the study. We did a cross‐sectional analysis of chronic pain prevalence, characteristics, and treatments used for pain relief and longitudinal analysis to find the predictors of chronic pain. We included 861 individuals with OI, in 41.8% chronic pain was present, with similar frequency across OI types. Back pain was the most frequent location. Nonsteroidal anti‐inflammatory drugs followed by bisphosphonates were the most common treatment used. Participants with chronic pain missed more days from school or work/year and performed worse in all mobility metrics than participants without chronic pain. The variables more significantly associated with chronic pain were age, sex, positive history of rodding surgery, scoliosis, other medical problems, assistive devices, lower standardized height, and higher body mass index. The predictors of chronic pain for all OI types were age, use of a wheelchair, and the number of fractures/year. Chronic pain is prevalent in OI across all OI types, affects mobility, and interferes with participation. Multiple covariates were associated with chronic pain.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A multicenter study to evaluate pain characteristics in osteogenesis imperfecta

Celin

Kruger

Caudill

et al. 2022

American J of Med Genetics Pt A

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“…We used a low cut‐off point of 55%, described as liberal by Kmet et al and following the approach of other mixed methods systematic reviews. 22 , 23 …”

Section: Methodsmentioning

confidence: 99%

Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed‐methods systematic review

et al. 2020

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Background: Tests in pregnancy such as chromosomal microarray analysis and exome sequencing are increasing diagnostic yield for fetal structural anomalies, but have greater potential to result in uncertain findings. This systematic review investigated the experiences of prospective parents about receiving uncertain results from these tests.Methods: A systematic search of three electronic databases was conducted. Data extraction was performed for studies that met the eligibility and quality criteria.Results were synthesised following the principles of thematic analysis.Results: Fourteen studies (10 qualitative, 4 quantitative) were included. Findings were grouped into three overarching themes. Sources of uncertainty included the testing procedure, the diagnosis and prognosis, and health professionals' own uncertainty. The clinical impact of the uncertainty included parents struggling to make clinical decisions with the information available, the emotional impact included decisional-regret, shock, worry and feeling overwhelmed. To manage the uncertainty, parents sought support from healthcare professionals, friends, family, the internet and other parents as well as remaining hopeful.Conclusions: Prospective parents experience a myriad of uncertainties in the prenatal setting, which must be handled sensitively. Future research should explore optimal ways of managing uncertainty to minimise harm. Recommendations are made for discussing uncertainty during pre-and post-test counseling. | BACKGROUNDFetal anomalies occur in 2% to 5% of pregnancies and cause around 21% of perinatal deaths. 1,2,3 Initially, prenatal testing for fetal anomalies was limited to karyotyping and targeted genetic testing. 4 Chromosomal microarray analysis (CMA), which is able to evaluate the sub-microscopic structure of chromosomes is now being offered routinely in many countries, and prenatal exome sequencing (ES), which provides resolution down to the single base-pair, is beginning to be used clinically to increase diagnostic rates. 5 There are a number of benefits in getting a result from prenatal testing. This includes the potential to provide a definitive diagnosis during pregnancy which can then inform genetic counselling, pregnancy and delivery management, and pre-and post-natal care. 6,7

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“…2 Fracture and fear of fracture are important factors affecting patients' QoL, 16 20 which run through the life and family of patients. 21 However, paying too much attention to fracture might lead to neglect of the impact of other complications, which might pose potential risks to patients' prognosis or QoL. 22 Therefore, the educational intervention should also emphasise knowledge regarding other common complications.…”

Section: Open Accessmentioning

confidence: 99%

Knowledge, attitude and practices regarding health self-management among patients with osteogenesis imperfecta in China: an online cross-sectional survey

Lai

Mao

et al. 2021

BMJ Open

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ObjectivesAssessing the knowledge, attitude and practices (KAP) regarding health self-management among patients with osteogenesis imperfecta (OI) in China.DesignAn online cross-sectional survey.SettingA structured questionnaire was distributed online through China-Dolls Center for Rare Disorders (CCRD), a non-governmental charity in China.ParticipantsParticipants were all patients with OI from CCRD. After stratified sampling according to the economic level of residential city, 901 patients were proportionally selected and 869 patients completed the survey (response rate: 96.4%).Main outcome measuresDemographic characteristics and KAP information were gathered using a 5-point Likert scale. The score of each dimension of KAP was the sum of the scores of all included items. Χ2 test or Fisher’s exact test was used to compare scores of different items. Ordinal regression was employed to determine the significant factors influencing KAP.ResultsA total of 802 questionnaires were included for analysis. Male respondents accounted for 57.1%, and 29.1% of respondents were of 26~30 years. More than half (50~60%) of patients knew the main symptoms of OI and the treatment of OI-related complications. Almost 80% of patients showed positive attitude. Nearly 60~70% of the patients were relatively able to take appropriate practice regarding OI management. There was a significant correlation between scores of knowledge and attitude, attitude and practice, as well as knowledge and practice. Patients aged 26~30 years, from urban areas and big cities, had higher KAP scores. Male patients showed better performance in knowledge, and highly educated patients perform better in practice.ConclusionsPatients with OI did not have sufficient knowledge on disease care and up-to-date caring guidelines, and their practice regarding health self-management also needs to be improved. Gender, age, educational level and economic level of residence can affect the level of KAP for patients, thus developing targeted and tailored programmes for patients with OI is highly recommended.

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Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review

Cited by 17 publications

References 40 publications

A multicenter study to evaluate pain characteristics in osteogenesis imperfecta

A multicenter study to evaluate pain characteristics in osteogenesis imperfecta

Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed‐methods systematic review

Knowledge, attitude and practices regarding health self-management among patients with osteogenesis imperfecta in China: an online cross-sectional survey

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