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).

Mothers of a Child with Cerebral Palsy: Perception on the Diagnosis Moment and the Child's General and Oral Health

ABSTRACT Objective: To analyze the perception of mothers of children with Cerebral Palsy (CP) on the diagnosis moment and the child's health. Material and Methods: Research with a qualitative approach, carried out with 19 mothers of children with CP, in a public higher education institution, in the state of Minas Gerais, Brazil. For data collection, the interview was used and for data interpretation, content analysis. Results: Mothers reported that the diagnosis of a child with CP resulted in major changes in the family's daily life, increasing their responsibility and demands. After the diagnosis, mothers revealed oscillating feelings, with progressively replaced by her motherly ability to take care, reestablishing the psychic balance. The health associated with the absence of disease and curative practices was frequently observed. Mothers reported a great concern with oral hygiene habits and frequent visits to the dentist. Conclusion: The diagnosis of a child with CP led to changes in the family's priorities and routine. After the moment of anguish, uncertainty and fear, the mothers accepted the reality. The biomedical principle significantly influenced the mother´s perception of health, being health perceived as the absence of disease and curative practices. In relation to oral health, practices widely spread and recommended by the media and health services, such as correct tooth brushing, showed an orientation of patients to maintain oral health.

Análise orofacial de indivíduos com Osteogênese Imperfeita: índices radiomorfométricos, dimensão fractal do osso mandibular e má oclusão / Orofacial analysis of individuals with Osteogenesis Imperfecta: radiomorphometric indices, fractal dimension of the mandibular bone and malocclusion

A Osteogênese Imperfeita (OI) é uma doença genética rara, caracterizada por ossos frágeis com fraturas recorrentes. Na maioria dos casos a OI, é causada por mutações nos genes COL1A1 ou COL1A2 os quais codificam o colágeno tipo I. Mutações em novos genes envolvidos na via do metabolismo ósseo têm sido descobertas. A OI está associada a alterações dentárias e craniofaciais, sendo as mais prevalentes a dentinogênese imperfeita e a má oclusão. A literatura tem mostrado que é possível predizer o risco de fratura óssea ao analisarmos índices radiomorfométricos e dimensão fractal (DF) da mandíbula em radiografias panorâmicas. O objetivo desta pesquisa foi verificar se há diferenças no padrão de oclusão, na cortical e no trabeculado ósseo mandibular de indivíduos com OI quando comparados com indivíduos sem OI. Desse modo, a tese conta com a apresentação de dois artigos científicos. O primeiro artigo objetivou analisar dois índices radiomorfométricos, o índice cortical mandibular (ICM) e o índice mentual (IM), e a DF do trabeculado ósseo mandibular de indivíduos com OI e comparar com indivíduos sem OI. Foi realizado um estudo transversal, pareado por idade e sexo, com 20 indivíduos com OI e 40 sem OI. Os dados foram obtidos por meio de radiografias panorâmicas de pacientes com OI e sem OI atendidos na Faculdade de Odontologia da Universidade Federal de Minas Gerais. O estudo foi aprovado pelo Comitê de Ética em Pesquisa da UFMG (protocolo 02470518.3.0000.5149). O teste t pareado (p <0,05) foi usado para comparar os valores de IM e DF. O teste do qui-quadrado (p <0,05) comparou o ICM entre os grupos. A média de idade de ambos os grupos foi 13,10 anos (± 6,57). O valor médio do IM foi de 2.08 (±0.79) no grupo de indivíduos com OI e 2.91 (±0.60) para indivíduos sem OI (p<0,001). O valor médio de DF do grupo OI [0.3248 (±0.7240)] foi inferior ao do grupo sem OI [0.3814 (±0.5587)] no côndilo mandibular (p=0,002). O grau C3 do ICM foi mais frequente entre os indivíduos com OI (p <0,001). Indivíduos com OI apresentaram valores menores nos IM e DF, além de pior morfologia da cortical mandibular. O segundo artigo, uma revisão sistemática e meta-análise (já publicada), objetivou avaliar se indivíduos com OI são mais afetados por má oclusão do que indivíduos normotípicos. Foi realizada uma busca nas principais bases. A avaliação do risco de viés e a análise da força de evidência foram conduzidas. Em comparação com indivíduos sem OI, o grupo com OI teve 19,69 vezes mais chance de apresentar má oclusão de Classe III de Angle (OR = 19,69, IC: 9,00­43,09) e apresentar maior mordida cruzada anterior (MD = 6,08, CI: 2,40­9,77). Indivíduos sem OI tiveram um ângulo ANB (MD= 3,88, IC: 1,15­6,61) e ângulo SNA (MD = 2,11, IC: 0,24­3,98) significativamente maiores em comparação com indivíduos com OI. Nenhuma diferença entre os grupos foi encontrada para SNB (MD = −0,50, IC: −2,21 a 1,21) e mordida aberta (MD = 0,98, IC: −0,29 a 2,25). A maioria dos estudos incluídos teve qualidade metodológica moderada. A força da evidência foi baixa ou muito baixa. A ocorrência de má oclusão Classe III de Angle e mordida cruzada anterior foi maior entre os indivíduos com OI em comparação com aqueles sem OI.

Osteogenesis Imperfecta (OI) is a rare genetic disease characterized by fragile bones with recurrent fractures. In most cases, OI is caused by mutations in the COL1A1 or COL1A2 genes which encode type I collagen. Mutations in new genes involved in the bone metabolism pathway have been discovered. OI is associated with dental and craniofacial alterations, the most prevalent being dentinogenesis imperfecta and malocclusion. The literature has shown that it is possible to predict the risk of bone fracture when analyzing radiomorphometric indices and fractal dimension (FD) of the mandible in panoramic radiographs. The objective of this research was to verify if there are differences in the occlusion pattern, in the cortical and in the mandibular bone trabeculate of individuals with OI when compared to individuals without OI. Thus, the thesis has the presentation of two scientific articles. The first article aimed to analyze two radiomorphometric indices, the mandibular cortical index (MCI) and the mentual index (MI), and the FD of the mandibular bone trabeculate of individuals with OI and compare with individuals without OI. A cross-sectional study, matched by age and sex, was carried out with 20 individuals with OI and 40 without OI. Data were obtained through panoramic radiographs of patients with OI and without OI treated at the Faculty of Dentistry of the Federal University of Minas Gerais. The study was approved by the Research Ethics Committee at UFMG (protocol 02470518.3.0000.5149). Paired t-test (p < 0.05) was used to compare MI and DF values. The chi-square test (p < 0.05) compared the ICM between groups. The mean age of both groups was 13.10 years (± 6.57). The mean value of MI was 2.08 (±0.79) in the group of individuals with OI and 2.91 (±0.60) for individuals without OI (p<0.001). The mean FD value of the OI group [0.3248 (±0.7240)] was lower than that of the group without OI [0.3814 (±0.5587)] in the mandibular condyle (p=0.002). ICM grade C3 was more frequent among individuals with OI (p<0.001). Individuals with OI had lower MI and DF values, in addition to worse mandibular cortical morphology. The second article, a systematic review and meta-analysis (already published), aimed to assess whether individuals with OI are more affected by malocclusion than normotypic individuals. A search was carried out in the main bases. Risk of bias assessment and strength of evidence analysis were conducted. Compared with individuals without OI, the group with OI was 19.69 times more likely to have Angle Class III malocclusion (OR = 19.69, CI: 9.00­ 43.09) and to have greater anterior crossbite (MD = 6.08, CI: 2.40­9.77). Subjects without OI had a significantly greater ANB angle (MD= 3.88, CI: 1.15­6.61) and SNA angle (MD= 2.11, CI: 0.24­3.98) compared to subjects with hi. No difference between groups was found for SNB (MD = −0.50, CI: −2.21 to 1.21) and open bite (MD = 0.98, CI: −0.29 to 2.25). Most of the included studies were of moderate methodological quality. The strength of the evidence was low or very low. The occurrence of Angle Class III malocclusion and anterior crossbite was higher among individuals with OI compared to those without OI.