Malocclusion traits and oral health–related quality of life in children with osteogenesis imperfecta

Najirad, Mohammadamin; Madathil, Sreenath; Esfandiari, Shahrokh; Lee, Brendan; Sutton, V. Reid; Nagamani, Sandesh C.S.; Rauch, Frank; Glorieux, Francis H.; Retrouvey, Jean-Marc; Esposito, Paul W.; Wallace, Maegen; Bober, Michael B.; Eyre, David R.; Gomez, Danielle; Harris, G.F.; Hart, Tracy; Jain, Mahim; Krakow, Deborah; Krischer, Jeffrey; Orwoll, Eric S.; Nicol, Lindsey; Raggio, Cathleen; Smith, Peter A.; Tosi, Laura L.

doi:10.1016/j.adaj.2020.03.040

Cited by 18 publications

(13 citation statements)

References 22 publications

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“…Children with OI experience fluctuating pain with bisphosphonate treatment cycles. Differences between fracture and non-fracture pain are poorly understood [ 106 , 107 , 271 , 276 , 279 , 280 , 282 – 284 , 286 , 288 , 290 , 294 , 295 , 299 ] Fatigue 3 Fatigue in children with OI is poorly understood, but included records indicate that children with OI do not experience significantly more fatigue compared with other children [ 106 , 276 , 300 ] Mental health 18 Few records compared the emotional functioning of children with OI to a reference or control population, therefore no consensus was identified [ 48 , 106 , 110 , 163 , 204 , 274 , 276 , 281 – 287 , 289 , 294 , 301 , 302 ] Social functioning 19 Children with OI may experience impaired social functioning possibly due to the need for careful play and inability to participate in activities. Social functioning may be worse in children with more severe OI types compared with those with mild types [ 48 , 106 , 108 , 110 , 163 , 164 , 204 , 272 <...…”

Section: Resultsmentioning

confidence: 99%

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Rapoport¹,

Bober

Raggio

et al. 2023

Orphanet J Rare Dis

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Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to capture and quantify the published evidence relating specifically to the clinical, humanistic, and economic impact of OI on individuals, their families, and wider society. Methods A systematic scoping review of 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry, PEDE, ScHARRHUd, Orphanet and Google Scholar), supplemented by hand searches of grey literature, was conducted to identify OI literature published 1st January 1995–18th December 2021. Searches were restricted to English language but without geographical limitations. The quality of included records was assessed using the AGREE II checklist and an adapted version of the JBI cross-sectional study checklist. Results Of the identified 7,850 records, 271 records of 245 unique studies met the inclusion criteria; overall, 168 included records examined clinical aspects of OI, 67 provided humanistic data, 6 reported on the economic impact of OI, and 30 provided data on mixed outcomes. Bone conditions, anthropometric measurements, oral conditions, diagnostic techniques, use of pharmacotherapy, and physical functioning of adults and children with OI were well described. However, few records included current care practice, diagnosis and monitoring, interactions with the healthcare system, or transition of care across life stages. Limited data on wider health concerns beyond bone health, how these concerns may impact health-related quality of life, in particular that of adult men and other family members, were identified. Few records described fatigue in children or adults. Markedly few records provided data on the socioeconomic impact of OI on patients and their caregivers, and associated costs to healthcare systems, and wider society. Most included records had qualitative limitations. Conclusion Despite the rarity of OI, the volume of recently published literature highlights the breadth of interest in the OI field from the research community. However, significant data gaps describing the experience of OI for individuals, their families, and wider society warrant further research to capture and quantify the full impact of OI.

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Section: Resultsmentioning

confidence: 99%

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Rapoport¹,

Bober

Raggio

et al. 2023

Orphanet J Rare Dis

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“…In 2007, a measurement method for very young children was developed, the Early Childhood Oral Health Impact Scale (ECOHIS) (Pahel et al, 2007). So far, at least eight reports have investigated OHR‐QoL in patients with rare genetic bone diseases (Aarts et al, 2023; Gjørup et al, 2021; Hanisch, Bohner, et al, 2019; Hanisch, Sielker, et al, 2019; Najirad et al, 2018, 2020; Nguyen et al, 2019; Oelerich et al, 2020) (Table 3). The most frequently used method for measuring OHR‐QoL is OHIP‐14, a shortened form of the original OHIP‐49 that captures seven domains of OHR‐QoL with two items per domain: functional limitation, physical pain, psychological discomfort, physical disability, psychological disability, social disability, and handicap.…”

Section: Influence Of These Diseases On Patients' Ohr‐qolmentioning

confidence: 99%

“…According to Najirad and colleagues, the severity of OI affects OHR‐QoL in adolescents aged 11–14 years, but not in children aged 8–10 years (Najirad et al, 2018). In addition, adolescent OI patients aged 11–14 years with posterior crossbite or open bite had statistically significantly higher CPQ11–14 scores than those without (Najirad et al, 2020). X‐linked hypophosphatemia (XLH; OMIM 307800) is caused by a mutation in the X‐linked phosphate‐regulating neutral endopeptidase ( PHEX ) gene found on chromosome Xp22 and characterized by an insufficient mineralization of bones and dental tissues due to abnormal renal phosphate wasting.…”

Section: Influence Of These Diseases On Patients' Ohr‐qolmentioning

confidence: 99%

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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“…This seems to be confirmed by the cephalometric findings of reduced (retrusive) maxillary sagittal development, prognathic mandible associated with anticlockwise rotation of anterior growth, and compensatory dentoalveolar changes, marked by a significantly lower Wits value and poor dentoalveolar development [ 3 , 14 , 15 , 16 , 17 ]. Similarly, an early genotype–phenotype correlation analysis points to a relationship between the severity of the malocclusion and the underlying mutation, and to some influence of age and gender, which is still to be verified [ 18 , 19 ].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the Severity of Malocclusion in Children with Osteogenesis Imperfecta

Nova-García

Bernal-Barroso

Mourelle-Martínez

et al. 2022

JCM

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Occlusion is the way in which the dental arches are related to each other and depends on craniofacial growth and development. It is affected in patients with Osteogenesis Imperfecta (OI) who present altered craniofacial development. The malocclusion present in 49 patients diagnosed with different types of OI aged between 4 and 18 was studied. The control group of healthy people was matched for age, sex, and molar class. To study the mixed and permanent dentition, the American Board of Orthodontics (ABO) discrepancy Index was applied. The primary dentition was evaluated with a Temporary Dentition Occlusion Analysis proposed for this study. The OI group obtained higher scores in the Discrepancy Index than the control group, indicating a high difficulty of treatment. The most significant differences were found in types III and IV of the disease. Regarding the variables studied, the greatest differences were found in the presence of lateral open bite in patients with OI, and in the variable “others” (agenesis and ectopic eruption). The analysis of primary dentition did not show significant differences between the OI and control groups. Patients with OI have more severe malocclusions than their healthy peers. Malocclusion is related to the severity of the disease and may progress with age.

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Malocclusion traits and oral health–related quality of life in children with osteogenesis imperfecta

Cited by 18 publications

References 22 publications

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Dental abnormalities in rare genetic bone diseases: Literature review

Evaluation of the Severity of Malocclusion in Children with Osteogenesis Imperfecta

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