Health-related quality of life in adults with osteogenesis imperfecta.
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ABSTRACT:
SUBMITTER: Murali CN
PROVIDER: S-EPMC8096695 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Osteogenesis imperfecta (OI) is a rare, connective tissue disorder characterised by bone fragility, resulting in recurrent fractures and skeletal deformities. Extra-skeletal manifestations include dentinogenesis imperfecta, hearing abnormalities and lung disease. These co-morbidities combined with recurrent fractures can exert a significant impact on health-related quality of life (HR-QOL). It is important to assess HR-QOL throughout adulthood because the prevalence of some OI-specific complications increases with age. PubMed, EMBASE and CENTRAL databases were searched on 2nd February 2022 to identify studies reporting quantitative assessments of HR-QOL in adults with OI. The primary endpoint was to determine the impact of an OI diagnosis on adult's HR-QOL. Secondary endpoints were to (i) examine how frequently various HR-QOL assessment tools were used (ii) identify differences in HR-QOL between OI types and (iii) investigate the determinants of HR-QOL in adults with OI. Search results were exported to Endnote where two reviewers independently conducted title/abstract and full-text reviews. Data from accepted studies were extracted into Microsoft Excel. A narrative synthesis was then undertaken. The review identified 17 studies with a total of 1,648 adults. The Short Form-36 (SF-36) was the most frequently reported HR-QOL assessment tool and was used in nine studies. Physical HR-QOL was reduced in adults with OI. Physical component scores (PCS) or individual physical domains of the SF-36 were lower in eight of nine studies. Mental component scores (MCS) were preserved in all six studies, however individual mental health domains of the SF-36 were reduced in some studies. The prevalence of anxiety/depression was relatively low in adults with OI. Those with type III OI had lower physical and respiratory HR-QOL but preserved mental HR-QOL compared with type I. The prevalence of fatigue and pain was higher in adults with OI compared with reference populations. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL. OI in adulthood has a wide-ranging negative impact on HR-QOL. Physical and respiratory HR-QOL were lower, while the prevalence of pain and fatigue were higher than in reference populations. Mental HR-QOL was relatively preserved, although some deficits were identified. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL.
| S-EPMC9945612 | biostudies-literature
Project description:X-linked hypophosphataemia (XLH) and osteogenesis imperfecta (OI) are rare congenital disorders characterised by skeletal dysplasia. The two disorders may include dental anomalies potentially affecting individual well-being. The aims of study were (a) to assess the oral health-related quality of life (OHRQoL) in Danish adults with XLH or OI, and (b) to compare the results of the groups. A cross-sectional study including 35 adults with XLH, 56 adults with OI type I and 17 adults with OI types III-IV was conducted. The OHRQoL was assessed by the 49-item version of the questionnaire Oral Health Impact Profile (OHIP). Summed domain scores (seven) were compared between XLH and OI groups. Prevalence of severe impact on OHRQoL (scores 3-4) was compared between groups. The median scores in XLH group exceeded the medians in OI (P < .05) in the domains functional limitation (XLH:6.5; OI:4.0), pain (XLH:9.5; OI:5.0), psychological discomfort (XLH:5.5; OI:2.0), psychological disability (XLH:2.0; OI:0.0), handicap (XLH:2.0; OI:0.0) and total OHIP (XLH:35.0; OI:14.0). Differences in domains physical disability (XLH: 4.0; OI: 1.0) and social disability (XLH: 0.0; OI: 0.0) were not significant. Prevalence of severe impact on OHRQoL in the XLH group significantly exceeded the level in OI group in the domains functional limitation (XLH: 59%; OI: 35%), psychological discomfort (XLH: 38%; OI: 20%) and physical disability (XLH: 32%; OI: 13%). In conclusion, adults with XLH experience a higher negative impact on their OHRQoL than adults with OI. Only to a minor degree, individuals with OI types III-IV experience a higher impact on OHRQoL than individuals with OI type I.
| S-EPMC7839549 | biostudies-literature
Project description:BACKGROUND:Osteogenesis imperfecta (OI) affects dental and craniofacial development and may therefore impair Oral Health-Related Quality of Life (OHRQoL). However, little is known about OHRQoL in children and adolescents with OI. The aim of this study was to explore the influence of OI severity on oral health-related quality of life in children and adolescents. METHODS:Children and adolescents aged 8-14 years were recruited in the context of a multicenter longitudinal study (Brittle Bone Disease Consortium) that enrolls individuals with OI in 10 centers across North America. OHRQoL was assessed using the Child Perceptions Questionnaire (CPQ) versions for 8 to 10-year-olds (CPQ8-10) and for 11 to 14-year-olds (CPQ11-14). RESULTS:A total of 138 children and adolescents (62% girls) diagnosed with OI types I, III, IV, V and VI (n?=?65, 30, 37, 4 and 2, respectively) participated in the study. CPQ8-10 scores were similar between OI types in children aged 8 to 10 years. In the 11 to 14-year-old group, CPQ11-14-scores were significantly higher (i.e. worse) for OI types III (24.7 [SD 12.5]) and IV (23.1 [SD 14.8]) than for OI type I (16.5 [SD 12.8]) (P?<?0.05). The difference between OI types was due to the association between OI types and the functional limitations domain, as OI types III and IV were associated with significantly higher grade of functional limitations compared to OI type I. CONCLUSION:The severity of OI impacts OHRQoL in adolescents aged 11 to 14 years, but not in children age 8 to 10 years.
| S-EPMC6202869 | biostudies-other
Project description:Osteogenesis imperfecta (OI) is characterized by bone fragility and secondary features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity, and short stature. It was thought that health-related quality of life (QoL) in patients with OI mainly depends on the severity of the skeletal deformities. However, it has become clear that additional factors can affect the QoL in all patients with OI. In this study, we compare dimensions of QoL in adults with OI with a control population. The SF-36 questionnaire was distributed among 330 adult patients with different OI types. Results were compared with two control populations from the Netherlands. Age-matched comparisons were made with one of the two control populations. The results were summarized in eight domains: general and mental health, physical and social function, bodily pain, vitality, and physical and emotional role. General health and physical function in all types of OI are low compared with controls, except patients with OI type 4 aged 55+ years. Bodily pain in patients with OI appeared significantly worse than in the control population. There was no significant difference between OI types regarding pain and vitality. Vitality was only in the OI type 1 group significantly lower compared with controls. Patients with OI type 1 had a significantly reduced mental health. Social functioning appeared most effective in type 3 around 20 years of age. QoL in adult patients with OI should be an important outcome measure in every OI clinic, but the amount of baseline data on this subject is sparse. This baseline measurement study is the largest study to date investigating QoL in adult patients with OI. The mean scores indicate that people with OI generally have a significantly lower QoL than the control population. Further qualitative evaluation of QoL and its influences is important for future management. © 2020 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
| S-EPMC7745883 | biostudies-literature
Project description:BackgroundThe incidence of malocclusion is higher among people with osteogenesis imperfecta (OI) than the general population, and treatment options are limited due to the weak structure of bones and teeth. Focusing on those malocclusion traits that might have a high impact on a patient's oral health-related quality of life (OHRQoL) is warranted.MethodsA total of 138 children and adolescents with OI were examined for malocclusion traits. OHRQoL was measured using age-specific versions (8 through 10 years and 11 through 14 years) of the Child Perceptions Questionnaire (CPQ), considering the following domains: oral symptoms, functional limitation, emotional well-being, and social well-being. Higher scores implied worse OHRQoL. Multivariable ordinal logistic regression was used to estimate the association between malocclusion traits and OHRQoL.ResultsAmong children aged 8 through 10 years (n = 56), the CPQ and its constituent domain scores were relatively similar between those with malocclusion (higher scores) and those without. In the adolescent (n = 82) group aged 11 through 14 years; however, those with posterior crossbite (odds ratio, 5.01; 95% confidence interval, 1.40 to 12.41) or open bite (odds ratio, 3.21; 95% confidence interval, 1.21 to 10.23) experienced statistically significantly higher degrees of functional limitations (a higher functional limitation score) than those without.ConclusionsAdolescents with OI and posterior open bites or crossbites have substantial self-reported functional limitations and worse oral symptoms, which warrants additional investigation and therapeutic trials in an attempt to improve the malocclusion. In addition, the authors found that the CPQ can be a useful tool in a clinical trial of orthodontic interventions in OI.
| S-EPMC7360479 | biostudies-literature
Project description:Background/objectivesOsteogenesis imperfecta (OI) is a rare genetic disease that is responsible for bone fragility, but also for dental malocclusions and dentinogenesis imperfecta (DI). The aim of this study was to assess whether the severity of dental malocclusion influenced the oral health-related quality of life (OHRQoL) and exposure to bullying in a paediatric OI population compared with a control group.MethodsDental and occlusal characteristics were noted during oral and radiographic examination. The severity of malocclusion was assessed using the PAR index. P-CPQ, COHIP(34), and BCS-A questionnaires were used to evaluate, respectively, externally and self-perceived OHRQoL and bullying.ResultsWe included 39 patients with a mean age of 11.3 (±4.8 SD) in the OI group, and 45 patients with a mean age of 12.3 (±3.2 SD) in the control group. There were no significant differences between the two groups in terms of occlusal vertical and transverse dimensions. Patients with severe OI, presenting with bone fractures, bones deformities, and short stature, had significantly more anterior (p < 0.05) and posterior openbites (p < 0.05) and more DI (p < 0.05) compared to patients who had moderate or mild OI. Self-perceived OHRQoL was negatively impacted by the disease (p = 0.01), particularly in the domains of oral health (p < 0.05) and self-image (p < 0.001), but not by its severity. Exposure to bullying did not differ significantly between the two groups, although more patients with OI reported being teased (21.4% face to face and 7.1% online vs. 14.6% and 2.4% in the control group).ConclusionInterventions for dental malocclusion and oral health in OI patients would help to improve their quality of life and self-image.
| S-EPMC11352506 | biostudies-literature
Project description:Osteogenesis imperfecta is a rare genetic disorder characterized by bone fragility, due to alterations in the type I collagen molecule. It is a very heterogeneous disease, both genetically and phenotypically, with a high variability of clinical phenotypes, ranging from mild to severe forms, the most extreme cases being perinatal lethal. There is no curative treatment for OI, and so great efforts are being made in order to develop effective therapies. In these attempts, the in vivo preclinical studies are of paramount importance; therefore, serious analysis is required to choose the right murine OI model able to emulate as closely as possible the disease of the target OI population. In this review, we summarize the features of OI murine models that have been used for preclinical studies until today, together with recently developed new murine models. The bone parameters that are usually evaluated in order to determine the relevance of new developing therapies are exposed, and finally, current and innovative therapeutic strategies attempts considered in murine OI models, along with their mechanism of action, are reviewed. This review aims to summarize the in vivo studies developed in murine models available in the field of OI to date, in order to help the scientific community choose the most accurate OI murine model when developing new therapeutic strategies capable of improving the quality of life.
| S-EPMC9820162 | biostudies-literature
Project description:In this study, our objective is to broaden the understanding of the genetic and clinical characteristics of OI by investigating rare pathogenic variants (PVs) not only within the well-established COL1A1 and COL1A2, which are responsible for more than 85-90% of all cases but also in other genes involved in OI. To achieve this, we performed next-generation sequencing (NGS) analysis on OI patients from the Puglia Region in South Italy, a population with limited genetic data on OI
| PRJEB66425 | ENA
Project description:Sequencing of a Fleckvieh animal for dominant Osteogensis imperfecta
| PRJEB12324 | ENA
Project description:Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation.
| S-EPMC7384887 | biostudies-literature