Oral health‐related quality of life in X‐linked hypophosphataemia and osteogenesis imperfecta

Gjørup, Hans; Beck-Nielsen, Signe Sparre; Hald, Jannie Dahl; Haubek, Dorte

doi:10.1111/joor.13114

Cited by 20 publications

(29 citation statements)

References 35 publications

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“…Additionally, she has multiple teeth missing and consequently unpreserved vertical occlusal dimension which made normal functioning, especially eating, exceedingly difficult. To establish physiological function, preserve alveolar bone and achieve acceptable facial aesthetic, we carefully planed rehabilitation of the orofacial system [1]. Severe type of OI, combined with potential complications and patients' rejection of orthognathic surgical procedure, based the therapeutic strategy on minimally invasive treatment.…”

Section: Discussionmentioning

confidence: 99%

“…Osteogenesis imperfecta (OI) is a rare heterogeneous group of connective tissue disorders characterized by increased fragility of the bony tissue. [1] Its estimated frequency in the general population is about 1 in 15.000 to 20.000 new-borns [2,3]. Most patients have dominant mutations in one of two genes, COL1A1 and COL1A2, which code the collagen type I synthesis [4,5].…”

Section: Introductionmentioning

confidence: 99%

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Oral manifestations and rehabilitation of a patient with osteogenesis imperfecta

et al. 2021

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Introduction. Osteogenesis imperfecta is a rare heritable connective tissue disorder characterized by increased fragility of the bony tissue. The incidence of orofacial alterations associated with osteogenesis imperfecta is variable and includes dentinogenesis imperfecta, malocclusions, hypoplasia of the jaws, delayed dental development and structural abnormalities of the teeth. Case outline. A 22-year-old girl was referred to the Clinic for Pediatric and Preventive Dentistry for dental treatment. Enlarged head, triangular-shaped face, mandibular prognathism with excessive maxillary hypoplasia, lowered vertical occlusal dimension were present features. The intraoral findings included dentinogenesis imperfecta with Kennedy?s class IV in the upper jaw and class II in the lower jaw. Panoramic radiograph revealed abnormalities in crown and root shape, obliteration of the pulp chamber and severe deficiency of alveolar bone mass. Overall treatment involved five phases: I - Preventive and prophylactic treatment, II - Direct restauration of five teeth with glass ionomer cement, III - Extraction of severely damaged teeth, IV - Prosthodontic rehabilitation with removable partial dentures, V - Maintenance and follow-up phase. Conclusion. Low prevalence and wide variety of signs and symptoms make dental treatment of osteogenesis imperfecta overly complex and challenging. Nevertheless, it is essential to improve craniofacial and dental function along with facial aesthetic.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Oral manifestations and rehabilitation of a patient with osteogenesis imperfecta

et al. 2021

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“…The demographic details of these studies are recorded in Table 1. OI was compared to unmatched reference populations in thirteen studies, unmatched groups with X-linked hypophosphataemia (XLH) or brous dysplasia groups in two studies (18,19) and matched controls in one study (20) . Another study compared two groups living with OI, depending on whether they had received bisphosphonates in childhood (21) .…”

Section: Study Selection and Designmentioning

confidence: 99%

“…There was a wide geographic spread of study sites; nine European, six American, one Asian and one Australian. (19) 37.5 e Harsevoort (34) Netherlands (33) 2019 USA…”

Section: Study Selection and Designmentioning

confidence: 99%

“…The St George's Respiratory Questionnaire (SGRQ) (29,32) and European Quality of Life 5 Dimensions 5 Level Version (EQ-5DL-5L) (18,30) were each reported in two studies while all other assessments were reported once. These included non-speci c HR-QOL assessments (World Health Organisation Quality of Life Assessment -WHOQOL-BREF (21) ), functional assessments (Nottingham Extended Activities of Daily Living Scale -NEADL (30) , International Physical Activity Questionnaire -IPAQ (21) ), Patient Reported Outcomes Measurement Information System -PROMIS® scales (33) and assessments speci c to oral HR-QOL (Oral Health Impact Pro le-49 -OHIP-49 (19) ), life satisfaction (Li Sat-11 (28) ) and fatigue (Fatigue Severity Scale -FSS (34) , Functional Assessment of Chronic Illness Therapy -Fatigue -FACIT-F (30) ). A description of all HR-QOL assessment tools included in the review is available in Supplement 1.…”

Section: Hr-qol Assessment Usedmentioning

confidence: 99%

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Systematic Review of Health Related-Quality of Life in Adults with Osteogenesis Imperfecta

Donald

Donnell

Martin-Grace

et al. 2022

Preprint

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BackgroundOsteogenesis 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 restrictive 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 have a clear understanding of HR-QOL throughout adulthood as some OI specific complications increase with age.MethodsPubMed, EMBASE and CENTRAL databases were searched in February 2022 to identify studies reporting quantitative assessments of HR-QOL in adults with OI. The primary endpoint was to determine the impact of a diagnosis of OI on an adult’s HR-QOL. Secondary endpoints were (i) to examine how frequently various HR-QOL assessment tools were used (ii) identify differences in HR-QOL between OI types and (iii) to 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. ResultsThe review identified 17 studies with a total of 1,648 adults. The Short Form-36 (SF-36) was the most widely reported HR-QOL assessment tool, 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 3 OI, had lower physical and respiratory HR-QOL but preserved mental HR-QOL compared with type 1. The prevalence of fatigue and pain were higher in adults with OI. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL. ConclusionOI has an extensive and wide ranging impact on adult HR- QOL. Physical and respiratory HR-QOL were lower, while the prevalence of pain and fatigue were higher than reference populations. Mental HR-QOL was relatively preserved. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL.

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Dental abnormalities in rare genetic bone diseases: Literature review

Iwata,

Sah,

Chen

et al. 2023

Clinical Anatomy

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Currently, over 500 rare genetic bone disorders are identified. These diseases are often accompanied by dental abnormalities, which are sometimes the first clue for an early diagnosis. However, not many dentists are sufficiently familiar with phenotypic abnormalities and treatment approaches when they encounter patients with rare diseases. Such patients often need dental treatment but have difficulties in finding a dentist who can treat them appropriately. Herein we focus on major dental phenotypes and summarize their potential causes and mechanisms, if known. We discuss representative diseases, dental treatments, and their effect on the oral health of patients and on oral health‐related quality of life. This review can serve as a starting point for dentists to contribute to early diagnosis and further investigate the best treatment options for patients with rare disorders, with the goal of optimizing treatment outcomes.

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Oral health‐related quality of life in X‐linked hypophosphataemia and osteogenesis imperfecta

Cited by 20 publications

References 35 publications

Oral manifestations and rehabilitation of a patient with osteogenesis imperfecta

Oral manifestations and rehabilitation of a patient with osteogenesis imperfecta

Systematic Review of Health Related-Quality of Life in Adults with Osteogenesis Imperfecta

Dental abnormalities in rare genetic bone diseases: Literature review

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