Abstract Objective The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. Methods This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. Results Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). Conclusions Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC. , (OC) Brazil crosssectional cross sectional 146 BDCA (BDCA 200 201 selection 202 considered 98 nonsyndromic, nonsyndromic non syndromic, non-syndromic 46 SOC, (SOC) 1 forms 85 8 5 8. Notably 37.1 371 37 (37. vs 2 0.0015. 00015 0.0015 . 0 0015 0.0015) 73 7 3 7. 107 10. 0.0581. 00581 0.0581 0581 0.0581) origin group population access (OC 14 20 9 4 (SOC 37. (37 0001 0.001 001 0058 0.058 058 (3 000 0.00 00 005 0.05 05 ( 0.0 0.

OBJETIVO: Avaliar sensibilidade e especificidade de questionário escrito de varredura para alergia ocular por análises multivariáveis. Comparação entre os modelos de análise multivariável; elaboração de rede neural artificial para varreduras futuras. MÉTODOS: Estudo observacional, transversal realizado na UNIFESP, com 48 pacientes portadores de conjuntivite alérgica e 54 crianças sadias. A idade variou entre 3 e 14 anos, sem restrição quanto ao sexo, doença alérgica sistêmica ou tratamento. Aplicou-se questionário desenvolvido e procedeu-se a uma análise estatística multivariável. Por fim, elaborou-se uma rede neural artificial. RESULTADOS: A média de idade dos participantes foi 8,4 anos (4 a 13 anos), com predomínio do sexo masculino (60,8%). A pontuação média do questionário foi 10 (0 a 18). A média do escore do grupo controle foi inferior ao grupo estudo (p<0,001). O diagnóstico de alergia foi melhorado em 68,8% com a inclusão da questão 5. Não houve concordância entre os diagnósticos clínico e o efetuado pelo questionário (kappa = 0,337, p=0,071). Somente a questão 5 apresentou boas sensibilidade (85,4%) e especificidade (85,1%). O ponto de corte capaz de separar doentes de não-doentes foi 10 (sensibilidade= 77,0%, especificidade= 79,6%, acurácia de 85,7%). A rede neural foi capaz de predizer os pacientes alérgicos em 100% dos casos, com 7 das 15 questões. CONCLUSÕES: Conseguiu-se chegar a um modelo confiável, utilizando apenas sete itens, tornando fácil a aplicação do QE em larga escala.

PURPOSE: To evaluate sensibility and specificity of a screening questionnaire with multivariable analysis, compare them and elaborate an artificial neural network for future screenings. METHODS: Observational, transversal study performed at UNIFESP, with 48 patients with allergic conjunctivitis and 54 children without the disease. Their age ranged between 3 and 14 years and there was no restriction related to gender, systemic allergy or treatment. The questionnaire was applied and multivariable statistical analysis was performed. Finally, an artificial neural network was elaborated. RESULTS: Mean age was 8.4 years (7-13) and male gender was more frequent (60.7%). Mean score was 10.04 (0-18), and it was higher in the study group (p<0.001). Allergic diagnosis was increased with the inclusion of the fifth question in 68.8%. Kappa coefficient was low (0.337; p=0.071) and showed no agreement between diagnosis made by the questionnaire and clinical examination. Only the question number five had good sensitivity (85.4%) and specificity (85.1%). The cutoff point to separate allergic patients was 10 (sensitivity= 77.08% and specificity= 79.63%). The artificial neural network predicted allergic diagnosis in 100% using 7 of the 15 existent items. CONCLUSIONS: An efficient model was developed using seven questions, in a manner that its application might be easy to large populations.