Background Individuals diagnosed with a rare genetic disease that affects skeletal development often have physical limitations and orofacial problems that exert an impact on oral health. The aim of the present study was to analyze the possible vulnerability to dental caries in individuals with rare genetic diseases that affect skeletal development. Methods A paired cross-sectional study was carried out with a sample of 140 individuals [70 with rare genetic diseases affecting skeletal development: mucopolysaccharidosis (MPS) ( n = 29) and osteogenesis imperfecta (OI) ( n = 41) and 70 without rare diseases] and their parents/caregivers. The participants in the first group were recruited from two reference hospitals specialized in rare genetic diseases in the city of Belo Horizonte, Brazil. All participants were examined for the evaluation of breathing type, malocclusion, dental anomalies, oral hygiene and dental caries. The parents/caregivers answered a structured questionnaire addressing the individual/behavioral characteristics and medical/dental history of the participants. Statistical analysis involved the chi-square test and multiple logistic regression analysis for the dependent variable (dental caries) (α = 5%). This study received approval from the Human Research Ethics Committee of the Universidade Federal de Minas Gerais. Results The mean age of the individuals was 10.34 ± 6.55 years (median: 9.50 years). Individuals with inadequate oral hygiene were 4.70–fold more likely to have dental caries (95% CI: 2.13–10.40) and those with the rare genetic diseases (MPS/OI) were 2.92-fold more likely to have dental caries (95% CI: 1.38–6.17). Conclusion Individuals with inadequate oral hygiene and those with MPS and OI had a greater chance of belonging to the group with dental caries. Based on the present findings, individuals with the rare genetic diseases may be considered vulnerable to caries.

Objective: To evaluate whether individuals with osteogenesis imperfecta (OI) are more affected by malocclusion than individuals without OI. Materials and Methods: Searches in PubMed, Ovid, Web of Science, Scopus, Lilacs and gray literature were performed. Data extraction was conducted by two researchers. Risk of bias assessment employing the Newcastle-Ottawa Scale and meta-analysis were conducted. Results were provided with mean difference (MD), odds ratio (OR) and 95% confidence interval (CI). Strength of evidence was determined. Results: Six cross-sectional studies were included. In comparison with individuals without OI, the group with OI had 19.69-fold greater chance of exhibiting Angle Class III malocclusion (OR = 19.69, CI: 9.00-43.09) and presenting anterior crossbite greater (MD = 6.08, CI: 2.40-9.77). Individuals without OI had a significantly greater ANB angle (MD = 3.88, CI: 1.15-6.61) and SNA angle (MD = 2.11, CI: 0.24-3.98) in comparison with those with OI. 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 studies included had moderate methodological quality. Strength of evidence was low or very low. Conclusions: The occurrence of Angle Class III malocclusion and anterior crossbite was greater among individuals with OI compared to those without OI. These findings can assist stakeholders about the occlusal abnormalities affecting OI individuals.

To identify factors associated with oral health care services for individuals with and without rare genetic diseases. Materials and Method:A cross-sectional study was undertaken, with 140 individuals paired by sex and age (70 with rare genetic diseases and 70 without), aged between 3 and 27 years, and their parents. The sample was selected from two reference hospitals for patients with rare genetic diseases in southeastern Brazil.The parents completed a questionnaire on individual aspects and their child's medical/dental history. Participants who did and did not suffer from rare genetic diseases were examined for dental caries, malocclusion, dental anomalies, and oral hygiene. The theoretical model Directed Acyclic Graphs (DAG) was used to identify possible confounding variables in the association between rare diseases and access to dental care. Descriptive analyses and non-matched and matched logistic regression models (p < 0.05) were carried out. Results:The chance of individuals without rare genetic disease having access to oral health care service was 5.32 times higher (95% CI 2.35-12.01) than those with such conditions. Individuals who had not suffered upper respiratory tract infections had a 3.16 times greater chance of being in the group with access to oral health care service (95% CI 1.45-6.90). Conclusion:Individuals with no rare genetic diseases and no history of upper respiratory tract infections had a greater chance of belonging to the group of individuals with access to a dental service. Individuals with rare genetic diseases have less access to oral health care.

Health and the Unified Health System behind the scenes: what do journalists have to tell us?

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