Radiomorphometric indices and fractal dimension of the mandible in individuals with osteogenesis imperfecta: a matched cross-sectional study.

OBJECTIVE: The objective was to analyze radiomorphometric indices (RMIs) of mandibular cortical bone and fractal dimension (FD) of trabecular bone of individuals with osteogenesis imperfecta (OI) and compare the findings to those of individuals without OI. METHODS: Digital panoramic radiographs of 20 individuals with OI (case group) and 40 individuals without OI (control group) were examined. The RMIs of mandibular cortical index (MCI) and mandibular cortical thickness (MCT) were analyzed. FD of mandibular trabecular bone was calculated bilaterally in 3 regions. The chi-squared test and paired t test were used to compare the significance of differences between the groups. The effect size and minimal clinically important difference (MCID) were also determined. Significance was established at P < .05. RESULTS: Categories C2 and C3 of the MCI were more frequent in individuals with OI (P < .001). The Mean MCT was 2.08 ± 0.79 in the OI case group and 2.91 ± 0.60 in the control group (P < .001). Mean FD in the condylar region was significantly lower in the OI case group (P = .002). The effect size for these 2 measures was large, and the difference between groups was greater than the MCID. CONCLUSION: Radiographs of individuals with OI exhibited more porosity and diminished thickness of the mandibular cortical bone and lower FD values in the condylar trabecular bone.

Malocclusion characteristics amongst individuals with autism spectrum disorder: a systematic review and meta-analysis.

BACKGROUND: To estimate the prevalence of malocclusion in individuals with autism spectrum disorders (ASD) and to assess the relationship between ASD and malocclusion. METHODS: We searched electronic databases including PubMed, Scopus, Web of Science, Cochrane, Embase, SciELO LILACS, Proquest, OpenGrey and Google Scholar. There were no language or publication dates restrictions. Two researchers independently performed selection, data extraction and quality assessment. Quality assessment and risk of bias were evaluated through the Newcastle-Ottawa scale and ROBINS-E tool. Meta-analyses using random effect models were used to estimate pooled measures of prevalence of malocclusion characteristics in individuals with ASD and pooled odds ratio (OR) on the relationship between ASD and malocclusion characteristics. Subgroup meta-analyses were conducted according to children and adolescents, history of orthodontic treatment, and occurrence of other syndromes and medical conditions. RESULTS: Searching identified 5549 papers with 238 were selected for full assessment. Eighteen cross-sectional studies were included according to inclusion criteria. Of them, eleven studies were considered of moderate quality. A judgement of critical risk of bias occurred for thirteen studies. The most prevalent malocclusion characteristics in individuals with ASD were crowding (33%; 95% CI 22 to 44%) and increased maxillary overjet (39%; 95% CI 23 to 54%). Individuals with ASD had higher odds of Angle's Class II (OR 1.92; 95% CI 1.36 to 2.72), Angle's Class III (OR 2.33; 95% CI 1.29 to 4.23), open bite (OR 1.96; 95% CI 1.21 to 3.16), and increased maxillary overjet (OR 1.53; 95% CI 1.06 to 2.21) than individuals without ASD. CONCLUSIONS: Angle's Class II, Angle's Class III, anterior open bite and increased maxillary overjet were more prevalent in individuals with ASD than those without ASD. Further high-quality studies are needed.

Access to oral health care services for individuals with rare genetic diseases affecting skeletal development.

OBJECTIVE: 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.

Integralidade do cuidado para indivíduos com doenças genéticas raras que afetam o desenvolvimento esquelético: fatores associados ao acesso ao serviço de saúde bucal / Integrality of care for individuals with rare genetic diseases affecting skeletal development: factors associated with access to oral health service

As doenças genéticas raras são consideradas eventos patológicos de origem genética de baixa ocorrência e com ampla diversidade de sinais e sintomas. Geralmente, indivíduos acometidos com doenças raras apresentam alterações musculares, esqueléticas e do sistema nervoso central. Muitas manifestações orofaciais são comuns nessa parcela da população, que, na grande maioria das vezes, apresenta dificuldade de acesso ao tratamento odontológico adequado. O conceito de integralidade do cuidado é amplamente discutido tanto nas práticas na área da saúde, quanto nas discussões relacionadas à compreensão do ser humano, de sua condição integral e não parcial. Este estudo objetivou identificar fatores associados ao acesso ao serviço de saúde bucal para indivíduos com doença genética rara e sem doença genética rara. Foi realizado um estudo transversal, pareado por sexo e idade, com 140 indivíduos [70 com doença genética rara - Mucopolissacaridoses (n=29) / Osteogênese Imperfeita (n=41) - e 70 sem doença genética rara] e os pais/responsáveis. A amostra foi selecionada em dois hospitais referência para pacientes com doenças raras em Minas Gerais, sudeste do Brasil. Os pais/responsáveis responderam um questionário sobre aspectos individuais (sexo, idade, cor da pele e escolaridade dos pais/responsáveis) e história médica e odontológica do filho (infecções respiratórias, uso rotineiro de medicamentos, acesso ao serviço de saúde bucal). O tipo de doença rara (MPS ou OI) foi confirmado pelo prontuário médico do paciente. O acesso ao serviço de saúde bucal foi analisado por meio da questão "Seu filho já foi ao dentista?" Os participantes com doença rara e sem doença rara foram examinados quanto à cárie dentária, má oclusão, anomalias dentárias e higiene bucal. Foi construído um modelo teórico por meio de Directed Acyclic Graph (DAG) para identificar possíveis variáveis de confusão na associação entre doenças raras e acesso ao serviço de saúde bucal. O estudo foi aprovado pelo Comitê de Ética em Pesquisa da Universidade Federal de Minas Gerais. Foram realizadas análises de regressão logística condicional não-ajustada e ajustada (p<0,05). A faixa etária dos indivíduos examinados foi de três a 27 anos, com média de idade de 10,3 anos (±6,5). A chance de o indivíduo sem doença genética rara ter acesso ao serviço de saúde bucal foi 5,32 vezes maior (IC95%: 2,35-12,01). Indivíduos sem episódios de infecções das vias aéreas superiores (menos de seis meses) apresentaram 3,16 vezes maior chance de terem acesso ao serviço de saúde bucal (IC95%: 1,45-6,90). Concluiu-se que indivíduos sem doença rara e sem história de infecções das vias aéreas superiores (menos de seis meses) apresentaram maior chance de pertencerem ao grupo de indivíduos com acesso ao serviço de saúde bucal

Rare genetic diseases are considered pathological events of low-occurrence genetic origin and with wide diversity of signs and symptoms. Generally, individuals affected with rare diseases present muscle, skeletal and central nervous system alterations. Many orofacial manifestations are common in this part of the population, that in the vast majority of time it has difficulty accessing adequate dental treatment. The concept of comprehensive care is widely discussed both in health practices, then discussions related to the understanding of the human being, of his integral and non-partial condition. This study aimed to identify factors associated with access to oral health service for individuals with rare genetic disease and without rare genetic disease. A cross-sectional study was conducted, matched by sex and age, with 140 individuals [70 with rare genetic disease - Mucopolysaccharidosis (n=29) / Osteogenesis Imperfect (n=41) - and 70 without rare genetic disease] and parents/guardians. The sample was selected in two reference hospitals for patients with rare diseases in Minas Gerais, southeastern Brazil. Parents/guardians answered a questionnaire about individual aspects and medical and dental history of the child. Participants with rare disease and without rare disease were examined for dental caries, malocclusion, dental anomalies and oral hygiene. The theoretical model of the Directed Acyclic Graphs (DAG) was used to identify possible confounding variables in the association between rare diseases and access to oral health service. The study was approved by the Research Ethics Committee of Federal University of Minas Gerais. Unadjusted and adjusted conditional logistic regression analyzes were performed (p<0.05). The age group of the individuals examined was three to 27 years, with a mean age of 10.3 years (±6.5). The chance of the individual without rare genetic disease belonging to the group with access to oral health service was 5.32 times higher (IC95%: 2.35-12.01). Individuals without episodes of upper airway infections (less than six months) were 3.16 times more likely to be in the group with access to oral health service (IC95%: 1.45-6.90). It was concluded that individuals without rare disease and without history of upper airway infections (< 6 months) were more likely to belong to the group of individuals with access to oral health services.