Dental anomalies in individuals with osteogenesis imperfecta: a systematic review and meta-analysis of prevalence and comparative studies.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. OI is also known as brittle bone disease. OBJECTIVE: This study aims to describe the prevalence of dental anomalies (except dentinogenesis imperfecta) in individuals with OI, and compare the prevalence of dental anomalies between individuals with and without OI and between individuals with different types of OI. SEARCH METHODS: Searches in PubMed, Web of Science, Scopus, Ovid, and gray literature were performed in October 2022. SELECTION CRITERIA: Observational studies (with or without a comparison group) that evaluated the prevalence of dental anomalies in individuals with OI. Data collection and analysis: Data items were extracted by two authors. Quality assessment employing the Joanna Briggs Institute checklists and meta-analyses was conducted. Results were provided in prevalence values and odds ratio (OR) / 95% confidence interval (CI). Strength of evidence was determined. RESULTS: Eighteen studies were included. Most prevalent dental anomalies in individuals with OI included pulp obliteration (46.4%), dental impaction (33.5%), dental impaction of second molars (27%), and tooth agenesis (23.9%). Individuals with OI type III/IV had 20.16-fold greater chance of exhibiting tooth discoloration in comparison with individuals with OI type I (CI: 1.10-370.98). In comparison with the group without OI, the individuals with OI had 6.90-fold greater chance of exhibiting dental impaction (CI: 1.54-31.00). High methodological quality was found in 47% of the studies. Strength of evidence was low or very low. CONCLUSIONS: Pulp obliteration, dental impaction, and tooth agenesis were the most prevalent dental anomalies in the OI group. Individuals with OI were more likely to have dental impaction than individuals without OI. Individuals with OI type III/IV (severe-moderate) are more likely to have tooth discoloration than individuals with OI type I (mild).

Perfil odontológico de pacientes brasileiros com doenças genéticas raras de envolvimento esquelético / Dental profile of brazilian patients with skeletal rare genetic disorders

Segundo a Organização Mundial de Saúde, uma doença é considerada rara quando acomete cerca de 65 pessoas a cada 100 mil indivíduos. No Brasil existem cerca de 13 milhões de pessoas diagnosticadas com alguma doença rara. O presente estudo objetivou comparar o perfil odontológico de pacientes brasileiros com doenças genéticas raras de envolvimento esquelético com brasileiros normotípicos. O estudo foi realizado a partir de um banco de dados cujas informações foram coletadas em 2019. Foi desenvolvido um estudo transversal, com uma amostra de conveniência (amostragem do tipo snowball) de 105 indivíduos com doenças genéticas raras ([MPS (n=27) / OI (n=78)], na faixa etária de dois a 54 anos e os pais/responsáveis, e 105 indivíduos sem doenças genéticas raras. A amostra foi selecionada em ambulatórios médicos de serviços especializados/referência em doenças raras, de cinco estados brasileiros (Ceará, Espírito Santo, Minas Gerais, Rio de Janeiro e São Paulo). Os pais/responsáveis responderam um questionário sobre aspectos individuais (sexo, idade, cor da pele e renda familiar) e perfil odontológico dos participantes. O perfil odontológico foi identificado a partir de questões relacionadas à história odontológica do participante [experiência odontológica, dor dentária (últimos 12 meses), tempo e motivo da última consulta odontológica, uso do SUS para assistência odontológica, satisfação sobre a assistência recebida na última consulta odontológica, dificuldades para o filho receber assistência odontológica] e presença/ausência de problemas dentários. O estudo foi aprovado pelo Comitê de Ética em Pesquisa da Universidade Federal de Minas Gerais, (CAAE 01480212.4.0000.5149 [MPS] / CAAE 54755516.4.0000.5149 [OI]. Foram realizadas as análises univariada, bivariada e multivariada [Regressão logística binária não-ajustada e ajustada (Odds Ratio, método Conditional Backward, IC 95%)]. A média de idade dos indivíduos com doença rara foi de 14,1 anos (±12,2) e mediana 9,5 anos. A maioria era do sexo feminino (53,8%), cor da pele não branca (56,7%) e renda familiar superior a um salário mínimo (82,4%). Entre os indivíduos com doenças raras, 78 tinham OI (37,1%) e 27 com MPS (12,9%). A maior parte era do estado de Minas Gerais (46,7%). Pacientes que já utilizaram os serviços odontológicos do SUS apresentaram uma chance 2,24 maior de pertencer ao grupo de pacientes com doenças raras (OR= 2,24; IC 95%: 1,07- 4,89). Os participantes com histórico de dificuldades para receber tratamento odontológico apresentaram 14,86 vezes maior chance de serem pacientes com doenças raras (OR=14,86; IC 95%: 5,96-27,03). E, os participantes diagnosticados com algum problema bucal apresentaram 10,38 vezes mais chances de pertencerem ao grupo com doenças raras (OR=10,38; IC 95%: 1,95-35,17). Pacientes com doenças raras apresentaram maior histórico de dificuldade em conseguir acesso a tratamento odontológico e de fazer uso do sistema público de saúde/SUS e foram diagnosticados com mais problemas dentários comparados aos indivíduos normotípicos.

According to the World Health Organization, a disease is considered rare when it affects about 65 people per 100,000 individuals. Brazil has about 13 million people affected by rare diseases. The aim of the present study was to compare the dental profile of Brazilian patients with skeletal rare genetic disorders and normotypical Brazilian patients. The study was carried out from a database with information collected in 2019. A cross-sectional study was carried out with 105 individuals with rare genetic diseases ([MPS (n=27) / OI (n=78)], with two to 54 years old and their parents/guardians. 105 normotypical individuals were also recruited for the study (Snowball sampling). The sample was selected in outpatient clinics that are reference in the care of rare diseases, in five Brazilian states (Ceará, Espírito Santo, Minas Gerais, Rio de Janeiro and São Paulo). Parents/guardians answered a questionnaire about individual aspects of their child (gender, age, skin color and level of education of parents/guardians).The dental profile was identified from questions related to dental history [(patient's dental experience, presence of dental pain (last 12 months), when was the last dental visit and the reason for it, use of Unified Health System (SUS) dental care services, satisfaction with the care received at the last dental appointment, difficulties for the child to receive dental treatment)] and presence/absence of dental problems. The study received approval from the Research Ethics Committee of Federal University of Minas Gerais (CAAE 01480212.4.0000.5149 [MPS] / CAAE 54755516.4.0000.5149 [OI]. A descriptive analysis and non-adjusted and adjusted binary logistic regression models was performed (Odds Ratio, Conditional Backward method, 95%CI). The results showed that the average age of individuals with a rare disease was 14.1 years (±12.2) and median age of 9.5 years. Most of them were female (53.8%), non-white skin color (56.7%) and with a family income higher than one minimum wage (82.4%). Among individuals with rare diseases, 78 (37.1) were with OI and 27 (12.9) with MPS. Most of the sample were from Minas Gerais state, Brazil, [98(46.7)]. Participants who had already used SUS dental care services had a 2.24 times higher chance of belonging to the group with rare diseases (OR= 2.24;95% CI: 1.07-4.89). Patients with a history of difficulties to receive dental treatment were 14.86 times more likely to belong to the group with rare diseases (OR=14.86; 95% CI: 5.96- 27.03). Patients diagnosed with 1 or more dental problems were 10.38 times more likely to belong to the group with rare diseases (OR=10.38; 95% CI: 1.95-35.17). Individuals with rare diseases have a greater history of difficulty in accessing dental treatment, use the public health system/SUS, and were diagnosed with more dental problems compared to normotypical Brazilian patients.

Dental anomalies in individuals with osteogenesis imperfecta: a systematic review and meta-analysis of prevalence and comparative studies

Abstract Background Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. OI is also known as brittle bone disease. Objective This study aims to describe the prevalence of dental anomalies (except dentinogenesis imperfecta) in individuals with OI, and compare the prevalence of dental anomalies between individuals with and without OI and between individuals with different types of OI. Search methods Searches in PubMed, Web of Science, Scopus, Ovid, and gray literature were performed in October 2022. Selection criteria Observational studies (with or without a comparison group) that evaluated the prevalence of dental anomalies in individuals with OI. Data collection and analysis: Data items were extracted by two authors. Quality assessment employing the Joanna Briggs Institute checklists and meta-analyses was conducted. Results were provided in prevalence values and odds ratio (OR) / 95% confidence interval (CI). Strength of evidence was determined. Results Eighteen studies were included. Most prevalent dental anomalies in individuals with OI included pulp obliteration (46.4%), dental impaction (33.5%), dental impaction of second molars (27%), and tooth agenesis (23.9%). Individuals with OI type III/IV had 20.16-fold greater chance of exhibiting tooth discoloration in comparison with individuals with OI type I (CI: 1.10-370.98). In comparison with the group without OI, the individuals with OI had 6.90-fold greater chance of exhibiting dental impaction (CI: 1.54-31.00). High methodological quality was found in 47% of the studies. Strength of evidence was low or very low. Conclusions Pulp obliteration, dental impaction, and tooth agenesis were the most prevalent dental anomalies in the OI group. Individuals with OI were more likely to have dental impaction than individuals without OI. Individuals with OI type III/IV (severe-moderate) are more likely to have tooth discoloration than individuals with OI type I (mild).