Exploring the role of the WNT5A rs566926 polymorphism and its interactions in non-syndromic orofacial cleft: a multicenter study in Brazil

Abstract Associations between the WNT5A rs566926 variant and non-syndromic orofacial cleft (NSOC) have been reported in different populations. Objective This study aimed to investigate the role of the rs566926 single nucleotide polymorphism (SNP) in WNT5A and its interactions with SNPs in BMP4, FGFR1, GREM1, MMP2, and WNT3 in the occurrence of NSOC in a Brazilian population. Methodology A case-control genetic association study was carried out involving participants from four regions of Brazil, totaling 801 patients with non-syndromic cleft lip with or without cleft palate (NSCL±P), 273 patients with cleft palate only (NSCPO), and 881 health volunteers without any congenital condition (control). Applying TaqMan allelic discrimination assays, we evaluated WNT5A rs566926 in an ancestry-structured multiple logistic regression analysis, considering sex and genomic ancestry as covariates. Interactions between rs566926 and variants in genes involved in the WNT5A signaling pathway (BMP4, FGFR1, GREM1, MMP2, and WNT3) were also explored. Results WNT5A rs566926 was significantly associated with an increased risk of NSCL±P, particularly due to a strong association with non-syndromic cleft lip only (NSCLO), in which the C allele increased the risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). According to the proportions of European and African genomic ancestry, the association of rs566926 reached significant levels only in patients with European ancestry. Multiple interactions were detected between WNT5A rs566926 and BMP4 rs2071047, GREM1 rs16969681 and rs16969862, and FGFR1 rs7829058. Conclusion The WNT5A rs566926 polymorphism was associated with NSCL±P, particularly in individuals with NSCLO and high European ancestry. Epistatic interactions involving WNT5A rs566926 and variants in BMP4, GREM1, and FGFR1 may contribute to the risk of NSCL±P in the Brazilian population.

Epidemiologic profile and prevalence of live births with orofacial cleft in Brazil: a descriptive study / Perfil epidemiológico e prevalência de nascidos vivos com fissura orofacial no Brasil: um estudo descritivo

ABSTRACT Objective: To describe the epidemiological profile and prevalence of live births with orofacial clefts in Brazil between 1999 and 2020. Methods: Descriptive study. The population corresponded to live births with isolated orofacial clefts in Brazil registered in the Live Birth Information System between 1999 and 2020. Descriptive variables were selected according to their availability and grouped into socioeconomic and demographic, maternal and child health care, and biological variables. Data were submitted to a descriptive analysis using the Software for Statistics and Data Science (STATA). Results: During the period, 33,699 children were born with orofacial clefts, and 82.1% (27,677) of them were isolated clefts. Regarding these cases, the majority were cleft lip and palate (9,619 or 34.7%), followed by cleft palate (9,442 or 34.1%), and by cleft lip (8,616 or 31.3%). Conclusions: Live births with orofacial clefts in Brazil were male, white, with birthweight ≥2,500 g and gestational age ≥37 weeks, born by cesarean section, and with Apgar scores ≥7. The cases were more frequent among mothers who were in their first and single pregnancy and had seven or more prenatal appointments. The mothers were 20 and 29 years old, had eight to ten years of study, and were single. The national prevalence of clefts was 4.24/10,000. The South and Southeast regions of Brazil had the highest prevalence, while the lowest prevalence was recorded in the Northeast and North regions. For the Federative Units, the highest and lowest prevalences were found, respectively, in Paraná and Acre.

RESUMO Objetivo: Descrever o perfil epidemiológico e a prevalência dos nascidos vivos com fissuras orofaciais no Brasil entre 1999 e 2020. Métodos: Estudo descritivo. A população correspondeu aos nascidos vivos com fissuras orofaciais isoladas no Brasil registrados no Sistema de Informação de Nascidos Vivos entre 1999 e 2020. As variáveis descritivas foram selecionadas de acordo com a sua disponibilidade e agrupadas em variáveis socioeconômicas e demográficas, de atenção à saúde materno-infantil e biológicas. Os dados foram submetidos a análise descritiva utilizando o Software for Statistics and Data Science (STATA). Resultados: No período, 33.699 indivíduos nasceram com fissura orofacial no Brasil, e 82,1% (27.677) deles foram fissuras isoladas. Com relação a esses casos, a maioria foi de fissuras de lábio e palato (9.619 ou 34,7%), seguidas por fissura de palato (9.442 ou 34,1%) e por fissura de lábio (8.616 ou 31,1%). Conclusões: O perfil epidemiológico dos nascidos vivos com fissuras orofaciais no Brasil foi de nascidos do sexo masculino, da raça/cor branca, por parto cesáreo, com peso ao nascer ≥2,500 g, idade gestacional ≥37 semanas e com índices de Apgar ≥7. Os casos foram mais frequentes entre mães que estavam na primeira gestação, única e que haviam realizado sete ou mais consultas de pré-natal. As mães, com maior frequência, tinham entre 20 e 29 anos, apresentavam oito ou mais anos de estudo, eram solteiras e residiam em cidades do interior. A prevalência nacional de fissuras foi de 4,24/10.000. As Regiões Sul e Sudeste apresentaram as maiores prevalências, enquanto as menores foram registradas nas Regiões Nordeste e Norte. Para as Unidades Federativas, as maiores e menores prevalências foram encontradas, respectivamente, no Paraná e no Acre.

Itinerário terapêutico de crianças com fissura labiopalatina / Itinerario terapéutico del niño con labio y paladar hendido / Therapeutic itinerary of children with cleft lip and palate

Resumo Objetivo conhecer o itinerário terapêutico de crianças com fissuras de lábio e/ou palato. Método estudo descritivo de natureza qualitativa realizado com famílias de crianças com fissura labiopalatina. A coleta de dados ocorreu entre junho e julho de 2022 por meio de entrevistas semiestruturadas, e aplicou-se a análise de conteúdo temática. Resultados participaram oito famílias e emergiram três categorias: I) Enfrentando o desconhecido: diagnóstico de fissura labiopalatina na criança - notaram-se sentimentos de choque, medo e incerteza que permeiam durante o diagnóstico precoce ou tardio; II) Um caminho árduo: pausas e recomeços durante o itinerário terapêutico - observou-se que as famílias percorreram caminhos diferentes devido à especificidade da configuração familiar e da própria fissura; III) Tecendo a rede de apoio para o cuidado - mostrou-se ser de extrema necessidade o apoio dos amigos, família, profissionais e instituições de saúde. Conclusões e implicações para prática o itinerário terapêutico de crianças com fissura labiopalatina é árduo e acompanhado de desafios, que se iniciam no diagnóstico e permanecem após o nascimento. Espera-se que os resultados deste estudo suscitem o diálogo entre os profissionais de saúde e se familiarizem com as necessidades dessa população e possam atuar nos diferentes pontos de atenção à saúde.

Resumen Objetivo conocer el itinerario terapéutico de los niños con labio hendido y/o paladar hendido. Método estudio cualitativo descriptivo realizado con familias de niños con labio y paladar hendido. La recolección de datos se realizó entre junio y julio de 2022 mediante entrevistas semiestructuradas, y se aplicó análisis de contenido temático. Resultados participaron ocho familias y surgieron tres categorías: I) Frente a lo desconocido: diagnóstico de labio y paladar hendido en niños: se observaron sentimientos de shock, miedo e incertidumbre que permean durante el diagnóstico temprano o tardío; II) Un camino arduo: pausas e inicios durante el itinerario terapéutico - se observó que las familias siguieron caminos diferentes debido a la especificidad de la configuración familiar y de la propia hendidura; III) Tejer la red de apoyo para la atención: el apoyo de amigos, familiares, profesionales e instituciones de salud resultó ser extremadamente necesario. Conclusiones e implicaciones para la práctica el itinerario terapéutico de los niños con labio y paladar hendido es arduo y está acompañado de desafíos, que comienzan desde el diagnóstico y continúan después del nacimiento. Se espera que los resultados de este estudio fomenten el diálogo entre los profesionales de la salud y conozcan las necesidades de esta población y puedan actuar en los diferentes puntos de la atención en salud.

Abstract Objective to understand the therapeutic itinerary of children with cleft lip and/or palate. Method a descriptive qualitative study carried out with families of children with cleft lip and palate. Data collection took place between June and July 2022 through semi-structured interviews, and thematic content analysis was applied. Results eight families participated and three categories emerged: I) Facing the unknown: diagnosis of cleft lip and palate in children - feelings of shock, fear and uncertainty were noted that permeate during early or late diagnosis; II) An arduous path: pauses and beginnings during the therapeutic itinerary - it was observed that the families followed different paths due to the specificity of the family configuration and the cleft itself; III) Weaving the support network for care - support from friends, family, professionals and health institutions proved to be extremely necessary. Conclusions and implications for practice the therapeutic itinerary of children with cleft lip and palate is arduous and followed by challenges, which begin at diagnosis and continue after birth. It is hoped that the results of this study will encourage dialogue among health professionals and become familiar with the needs of this population and be able to act at different points of health care.

Satisfacción posterior a la intervención quirúrgica en pacientes con labio y paladar hendido en el Hospital Central Militar / Satisfaction after surgical intervention in patients with cleft lip and palate at the Hospital Central Militar

Resumen Objetivo: Conocer el nivel de satisfacción percibido en pacientes posoperados con labio y paladar hendido conforme al resultado estético y funcional en el Hospital Central Militar. Metodología: Se procedió a realizar cuestionario Cleft Q en la consulta externa de reconstrucción del Hospital Central Militar a los pacientes posoperados con labio y paladar hendido y sus padres, otorgándole un tiempo aproximado de 20 minutos para su llenado bajo supervisión directa, se recabaron los resultados obtenidos para posteriormente proceder al análisis estadístico descriptivo. Resultados: Los resultados en la esfera "apariencia" sugieren que los pacientes están más satisfechos con la apariencia de la cicatriz de queiloplastia después de la cirugía. Respecto a la esfera de funcionalidad facial, se observa que la función de comer y beber resultó con una puntuación más satisfactoria. Hablando de la calidad de vida relacionada con la salud, la función escolar resultó con mayor puntuación. Limitaciones del estudio o implicaciones: Ninguna. Originalidad o valor: Es el primer estudio realizado en el Hospital Central Militar valorando la satisfacción quirúrgica en pacientes con labio y paladar hedido. Conclusiones: Los resultados de las esferas anteriores sugieren que los pacientes intervenidos en un tratamiento quirúrgico reconstructivo presentan mejoría con su apariencia, en la funciona de comer y hablar, así como la calidad de para socializar y desarrollarse en la escuela.

Abstract: Objective: To know the level of satisfaction perceived in postoperative patients with cleft lip and palate according to the aesthetic and functional result at the Hospital Central Militar. Methodology: The Cleft Q questionnaire was carried out in the reconstruction outpatient clinic of the Hospital Central Militar for postoperative patients with cleft lip and palate and their parents, giving it an approximate time of 20 minutes to fill it out under direct supervision, the results were collected. obtained to later proceed to the descriptive statistical analysis. Results: The results in the "appearance" sphere suggest that patients are more satisfied with the appearance of the cheiloplasty scar after surgery. Regarding the sphere of facial functionality, it is observed that the function of eating and drinking resulted in a more satisfactory score. Talking about the quality of life related to health, the school function resulted in a higher score. Study limitations or implications: None. Originality or value: It is the first study carried out in the Hospital Central Militar assessing surgical satisfaction in patients with cleft lip and palate. Conclusions: The results of the previous areas suggest that patients undergoing reconstructive surgical treatment present improvement with their appearance, improvement. In the function of eating and speaking, as well as the quality of socializing and development in school.

Investigación en fisuras faciales: quo vadis España? / Investigation in facial fissures: quo vadis Spain?

Las fisuras orofaciales representan un grupo heterogéneo de malformaciones congénitas que afectan a distintas estructuras de la cavidad oral y de la cara. Globalmente, los bebés con estos trastornos presentan una mayor morbilidad y mortalidad a lo largo de su vida en comparación con individuos no afectados. Por ello, los avances en la investigación biomédica resultan ineludibles. Así, el objetivo general de este trabajo fue llevar a cabo una revisión bibliográfica para analizar narrativamente los 10 principales estudios primarios sobre fisuras orofaciales llevados a cabo en España, publicados del 2018 hasta la actualidad. Según esto, a nivel institucional, destaca la Universidad Complutense de Madrid (UCM) con cuatro artículos publicados por el grupo de investigación UCM 920202. También sobresale la Universidad Rey Juan Carlos de Madrid, con tres artículos relacionados con diferentes aspectos de la personalidad y la calidad de vida de los pacientes fisurados, así como otras muchas variables cognitivo-emocionales. En relación con la Universidad de Valencia, encontramos dos artículos llevados a cabo en amplias muestras de pacientes con fisuras. Por último, en Barcelona resulta destacable un estudio observacional sobre problemas otorrinolaringológicos en pacientes operados de fisura palatina. En conclusión, si bien en los últimos años se han publicado varios artículos sobre distintos aspectos relacionados con las fisuras, aún queda mucho trabajo por hacer. España debería seguir potenciando proyectos con líneas de trabajo centradas en estas alteraciones del desarrollo craneofacial. Se necesitan estudios amplios, multicéntricos y colaborativos, para ahondar en los mecanismos etiológicos y, en última instancia, en las posibles herramientas para su prevención. Del mismo modo, se necesitan ayudas para dilucidar mejor las cuestiones relacionadas con los tratamientos en todas las dimensiones de la salud, preferentemente a partir de ensayos clínicos controlados aleatorizados, que faciliten la traslación de conocimientos y su accesibilidad universal dentro del sistema sanitario público español.

SUMMARY: Orofacial clefts represent a heterogeneous group of congenital malformations affecting different structures of the oral cavity and face. Overall, infants with these disorders have a higher lifetime morbidity and mortality compared to unaffected individuals. Therefore, advances in biomedical research are unavoidable. Thus, the overall objective of this work was to conduct a literature review to narratively analyse the 10 main primary studies on orofacial clefts carried out in Spain, published from 2018 to date. According to this review, at an institutional level, the Complutense University of Madrid (UCM) is notable with 4 articles published by the UCM 920202 research group. The Rey Juan Carlos University of Madrid also stands out, with three papers related to different aspects of the personality and quality of life of cleft patients, as well as many other cognitive-emotional variables. In relation to the University of Valencia, we found two studies carried out on large samples of cleft patients. Finally, in Barcelona, an observational study on otorhinolaryngological problems in cleft palate patients is noteworthy. In conclusion, although several studies have been published in recent years on different aspects related to clefts, there is still much work to be done. Spain should craniofacial development. Large, multicenter and collaborative studies are needed to delve deeper into the aetiological mechanisms and, ultimately, into the possible tools for their prevention. Similarly, support is needed to better elucidate questions related to treatments in all dimensions of health, preferably randomised controlled clinical trials, which facilitate the transfer of knowledge and its universal accessibility within the Spanish public health system.

Application of data mining to extract knowledge about the occurrence of fistulas after palatoplasty / Aplicação de mineração de dados para extração de conhecimento sobre ocorrência de fístulas após palatoplastia

Introduction: Data mining techniques expand access to important information for the decision-making process during health care. The objective the study proposes using data mining techniques to identify variables (surgical treatment protocols, patient characteristics, post-surgical complications) associated with fistulas after primary palatoplasty in patients with unilateral transforamen incisor cleft (UTIC). Method: A data set of 222 patients with UTIC without syndromes, operated by four surgeons with Furlow's or von Langenbeck's primary palatoplasty techniques, was analyzed for this study. Two models for detecting the outcome of surgery were induced using data mining techniques (Decision Tree and Apriori). Results: Five rules were selected from a decision tree pointing to some variables as predictors of fistulas associated with primary palatoplasty: infection, cough, hypernasality, and surgeon. Analysis of the model indicates that it correctly classifies 95.9% of occurrences between the absence and presence of fistulas. The second model indicates that the absence of post-surgical complications (infection and fever) and normal speech results (absent hypernasality, without suggestive of velopharyngeal dysfunction) are related to the absence of fistulas. Regarding surgical procedures, the Furlow technique and the Vomer flap were more frequent in patients with fistulas. Conclusion: Data mining techniques, as applied in the present study, pointed to infection and cough, hypernasality, and surgeon and surgical techniques as predictors of fistulas related to primary palatoplasty.

Introdução: As técnicas de mineração de dados ampliam o acesso a informações importantes para o processo de tomada de decisão durante os cuidados com a saúde. O objetivo do estudo propõe a utilização de técnicas de mineração de dados para identificar variáveis (protocolos de tratamento cirúrgico, características do paciente, intercorrências pós-cirúrgicas) associadas à ocorrência de fístulas após palatoplastia primária em pacientes com fissura transforame incisivo unilateral (FTIU). Método: Um conjunto de dados de 222 pacientes com FTIU sem síndromes, operados por quatro cirurgiões com as técnicas de palatoplastia primária de Furlow ou von Langenbeck, foi analisado para este estudo. Dois modelos para detecção do resultado da cirurgia foram induzidos usando técnicas de mineração de dados (Árvore de Decisão e Apriori). Resultados: Cinco regras foram selecionadas de uma árvore de decisão apontando para algumas variáveis como preditivas de fístulas associadas à palatoplastia primária: infecção, tosse, hipernasalidade, cirurgião. A análise do modelo indica que ele classifica corretamente 95,9% das ocorrências entre ausência e presença de fístulas. O segundo modelo indica que a ausência de intercorrências pós-cirúrgicas (infecção e febre) e resultado de fala normal (hipernasalidade ausente, sem sugestivo de disfunção velofaríngea) estão relacionados à ausência de fístulas. Em relação aos procedimentos cirúrgicos, o uso da técnica de Furlow e retalho de Vomer foram mais frequentes nos pacientes com fístulas. Conclusão: Técnicas de mineração de dados, conforme aplicadas no presente estudo, apontaram para infecção e tosse, presença de hipernasalidade, cirurgião e técnica cirúrgica como preditores de fístulas relacionadas à palatoplastia primária.

Influence of an Intensive Speech Therapy Program on the Speech of Individuals with Cleft Lip and Palate

Abstract Introduction Compensatory articulations are speech disorders due to the attempt of the individual with cleft palate/velopharyngeal dysfunction to generate intraoral pressure to produce high-pressure consonants. Speech therapy is the indicated intervention for their correction, and an intensive speech therapy meets the facilitating conditions for the correction of glottal stop articulation, which is the most common compensatory articulation. Objective To investigate the influence of an intensive speech therapy program (ISTP) to correct glottal stop articulation in the speech of individuals with cleft palate. Methods Speech recordings of 37 operated cleft palate participants of both genders (mean age = 19 years old) were rated by 3 experienced speech/language pathologists. Their task was to rate the presence and absence of glottal stops in the 6 Brazilian Portuguese occlusive consonants (p, b, t, d, k, g) distributed within several places in 6 sentences. Results Out of the 325 pretherapy target consonants rated with glottal stop, 197 (61%) remained with this error, and 128 (39%) no longer presented it. The comparison of the pre- and posttherapy results showed: a) a statical significance for the p1, p2, p3, p4, t1, k1, k2 and d6 consonants (McNemar test; p < 0.05); b) a statistical significance for the p consonant in relation to the k, b, d, g consonants and for the t consonant in relation to the b, d, and g consonants (chi-squared test; p < 0.05) in the comparison of the proportion improvement among the 6 occlusive consonants. Conclusion The ISTP influenced the correction of glottal stops in the speech of individuals with cleft palate.

Correlation between cleft width and dental arch symmetry in cleft lip and palate: a longitudinal study

Abstract This study aimed to evaluate the influence of cleft width on dental arch symmetry of children with unilateral cleft lip and palate. Forty-one children were subjected to impression preoperatively (T1; mean age = 0.31 ± 0.07 years) and postoperatively (T2; mean age = 6 .73 ± 1.02 years). Eighty-two digitized dental casts were analyzed by stereophotogrammetry software. The cleft palate width was measured in the anterior (P-P'), middle (M-M'), and posterior (U-U') regions. Also, the following measurements were obtained: anterior intersegment (I-C') and intrasegment (I-C); total intersegment (I-T') and intrasegment (I-T); cleft-side (C'-T') and non-cleft-side (C-T) canine tuberosity. Paired t test and Pearson correlation coefficient were applied (α = 5%). Cleft width had the following means: 10.16 (± 3.46) mm for P-P', 12.45 (± 3.00) mm for M-M', and 12.57 (± 2.71) mm for U-U'. In the longitudinal analysis, I-C' had a significant reduction, while the other measurements significantly increased (p < 0.001). Asymmetry was verified in the following analyses at T1: I-C' vs. I-C and I-T' vs. I-T (p < 0.001); at T2, only in I-C' vs. I-C (p < 0.001). At T1, P-P' vs. I-C' (r = 0.722 and p < 0.001), P-P' vs. I-T' (r = 0.593 and p < 0.001), M-M' vs. I-C' (r = 0.620 and p < 0.001), and M-M' vs. I-T' (r = 0.327 and p < 0.05) showed a positive and significant correlation. At T2, there was a correlation between M-M' and I-C' (r = 0.377 and p < 0.05). In conclusion, the anterior and middle cleft widths influenced palatal asymmetry in the first months of life, while middle width influenced residual asymmetry.

Maternal consumption of caffeine and second-hand tobacco smoke as risk factors for the development of oral clefts

Abstract Objective The aim of this case-control study was to investigate environmental factors, such as caffeine, folic acid, nutritional iron supplementation, multivitamin complexes, alcohol, and tobacco (second-hand smoking), which have been described as risk factors for the development of oral clefts. Methods This case-control study employed convenience sampling and included 409 mothers: 132 with children with oral clefts (cases) and 277 with children without oral clefts (controls). The age range of the children in both groups was 0 to 2 years. A questionnaire was administered to each mother to inquire about their habits and food consumption during the first trimester of pregnancy. Results Folic acid supplementation was observed in 116 (87.8%) of the case group (p< 0.001) and 271 (97.8%) of the control group. Regarding the use of ferrous sulfate, 114 (86.3%) of the case group and 271 (97.8%) of the control group reported using it. In the case group, 84 (63.6%) mothers reported being exposed to second-hand smoke, and 5 (3.7%) reported alcohol consumption (p= 0.797). In terms of caffeine consumption, 127 mothers (95.4%) in the case group consumed it (p= 0.13), while 247 (88.8%) reported consumption in the control group. Conclusions The results suggest a direct relationship between secondhand smoke, alcohol consumption, and the lack of maternal supplementation with oral clefts.

Auditory-perceptual training for the assessment of hypernasality in cleft palate speakers: an integrative literature review / Treinamento perceptivo-auditivo para a avaliação da hipernasalidade de fala em indivíduos com fissura labiopalatina: uma revisão integrativa da literatura

ABSTRACT Purpose: to describe the auditory-perceptual training for the assessment of hypernasality in individuals with cleft lip and palate. Methods: an integrative literature review in the databases Virtual Health Library, SciELO, and PubMed, aimed to answer the following guiding question: 1) What are the characteristics of auditory-perceptual training to assess hypernasality in individuals with cleft lip and palate? Articles in Portuguese and English, available in full access, without the restriction of the publication date, which presented programs of training for speech hypernasality, unprecedented, adapted, or replicated, were included. The pursuit of descriptors, selection, extraction, and synthesis of data was performed by three independent evaluators. Literature Review: 10 articles were included in this study, based on established criteria. Five articles investigated the effectiveness of training on speech analysis by listeners, regardless of experience level. Another five articles pertained to training when validating speech assessment protocols. Consensus analyses and reference samples were the most used training reported. Perceptual rating of phrases, using the equal appearance scale and in person training, was the most reported one. Conclusions: the auditory-perceptual training of listeners to identify hypernasality showed variability in the proposed strategies, particularly when proposed for non-experienced listeners. The difficulty in maintaining acquired skills in the long term is pointed out.

RESUMO Objetivo: descrever as características dos treinamentos perceptivo-auditivos para a avaliação da hipernasalidade em indivíduos com fissura labiopalatina. Métodos: revisão integrativa de literatura nas bases de dados Biblioteca Virtual da Saúde, SciELO e PubMed que visou responder a seguinte pergunta norteadora "Quais são as características dos treinamentos perceptivos-auditivos para avaliação da hipernasalidade em indivíduos com fissura labiopalatina?". Foram incluídos artigos em português e inglês, disponíveis na íntegra, sem restrição de data de publicação, que apresentassem programas de treinamento para hipernasalidade, inéditos, adaptados ou replicados. A busca dos descritores, seleção, extração e síntese dos dados foram feitas por três avaliadores independentes. Revisão da Literatura: foram incluídos dez artigos com base nos critérios estabelecidos. Cinco artigos investigaram o efeito do treinamento na análise perceptiva de ouvintes, com ou sem experiência. Outros cinco utilizaram treinamentos de fonoaudiólogos, ao validar protocolos de avaliação da fala. Análises consensuais e amostras de referências foram os treinamentos mais empregados. Julgamentos perceptivos de frases, usando escala de intervalos iguais, em modalidade presencial foram os mais descritos. Conclusão: treinamentos perceptivo-auditivos para identificação da hipernasalidade variaram, particularmente, em sua duração e ouvintes incluídos. A dificuldade em manter habilidades adquiridas a longo prazo é apontada.

Efeito do treinamento perceptivo-auditivo na classificação da hipernasalidade de fala / Effect of perceptive-auditory training on the classification of speech hypernasality

RESUMO Objetivo Analisar o efeito de um treinamento perceptivo-auditivo de fonoaudiólogas sem experiência na classificação da hipernasalidade de fala de indivíduos com fissura labiopalatina e comparar a classificação da presença e grau de hipernasalidade realizadas dessas fonoaudiólogas (com a avaliação padrão-ouro), antes e depois do treinamento perceptivo-auditivo. Método Três fonoaudiólogas sem experiência analisaram 24 amostras de fala de alta pressão de indivíduos com fissura labiopalatina, antes e depois de treinamento perceptivo-auditivo, usando escala de quatro pontos. As amostras de fala correspondiam a seis amostras de cada grau de hipernasalidade. Entre as análises, as fonoaudiólogas receberam treinamento perceptivo-auditivo. Houve acesso às amostras de referência e feedback de respostas corretas quanto ao grau de hipernasalidade no treinamento. Resultados Não houve diferença significativa na porcentagem geral de acertos entre os momentos antes e depois do treinamento perceptivo-auditivo. Houve associação e concordância significativa das três avaliadoras com avaliação padrão ouro após treinamento, com aumento da concordância para uma avaliadora (aumento de respostas corretas para os graus ausente e leve). A análise dicotômica dos dados mostrou aumento do índice de concordância Kappa dessa avaliadora. Houve aumento do índice concordância inter-avaliadores para hipernasalidade ausente, leve, e grave, porém sem significância estatística. Conclusão O treinamento perceptivo-auditivo não resultou em melhora significativa da classificação da hipernasalidade de fala pelas fonoaudiólogas sem experiência, embora a análise individual dos dados tenha mostrado que o treinamento favoreceu uma dessas avaliadoras. Novos estudos envolvendo treinamento perceptivo-auditivo gradual e mais extenso poderão favorecer a classificação da hipernasalidade de fala por fonoaudiólogos sem experiência.

ABSTRACT Purpose To analyze the effect of auditory-perceptual training by inexperienced speech-language pathologists in the classification of hypernasality in individuals with cleft lip and palate and compare their classification of hypernasality individually, with the gold standard evaluation, before and after this training. Methods Three inexperienced speech-language pathologists used a four-point scale to assess 24 high-pressure speech samples from individuals with cleft lip and palate, before and after auditory-perceptual training. The speech samples corresponded to six samples of each degree of hypernasality. The speech-language pathologists received auditory-perceptual training during the assessments. They had access to anchor samples and immediate feedback of correct answers regarding the degree of hypernasality in training. Results There was no significant difference in the overall percentage of correct answers when comparing before and after the auditory-perceptual training. There was a significant association and agreement of the three evaluators with a gold standard evaluation after training, with an increase in agreement for a single evaluator for absent and mild degrees of hypernasality. The dichotomous analysis of the data showed an increase in the Kappa Index of Agreement of this evaluator. Although there was an increase in the Index of Agreement between evaluators for absent, mild, and severe hypernasality, this increase did not reach statistical significance. Conclusion The auditory-perceptual training provided did not result in a significant improvement in the hypernasality classification for the inexperienced speech-language pathologists, even though the individual data analysis showed that the training favored one of the evaluators. Further studies involving gradual and more extensive auditory-perceptual training may favor the classification of hypernasality by inexperienced SLPs.

Assessment of websites on cleft lip and palate in Brazilian Portuguese

ABSTRACT Purpose: this study aimed at assessing the legibility, reliability, usability and coverage of websites on cleft lip and/or palate (CL/P) in Brazilian Portuguese and providing a global comparison. Methods: in order to evaluate the obtained data, four protocols were used, i.e., the Website Coverage Protocol, the legibility (by means of the COH METRIX PORT), the reliability (Discern Protocol), and the usability (by means of the System Usability Scale). Results: 98 websites were included with average legibility scoring of 31.6±11.7, rated as a hard readability level. Coverage average scoring was 19.9±3.79 from a total of 35 points. As for reliability, average scoring was 43.2±6.51 points, rated as acceptable. The usability scoring was 24.8±2.18 points, rated as the worst imaginable one. Conclusion: therefore, the assessed Brazilian websites on CL/P were rated difficult for legibility, requiring high-school level of education, restricted coverage and acceptable reliability, in addition to the low usability. The results were similar to those of websites from other countries, except for the legibility aspect, which was lower for Brazilian websites.

Caracterización de pacientes con fisura labiopalatina

Introducción: Las fisuras labiopalatinas son los defectos congénitos más frecuentemente atendidas en los servicios de cirugía maxilofacial pediátricos. Estas aparecen precozmente en la vida intrauterina durante el período embrionario e inicio del período fetal. Objetivo: Examinar las características clínicas de pacientes con fisuras labiopalatinas. Métodos: Estudio descriptivo, retrospectivo y transversal. El universo de estudio quedó conformado por 91 historias clínicas de pacientes atendidos en el departamento de Cirugía Maxilofacial del Hospital Pediátrico Universitario "William Soler Ledea" en La Habana, entre 2015 y 2019. Las variables medidas fueron edad, sexo, tipo de fisura, defectos congénitos aislados y defectos congénitos múltiples. Resultados: Predominaron las féminas con 57,1 % y las edades menores de un año para el 54,9 %. Las fisuras palatinas aisladas se presentaron con mayor frecuencia (39,6 %) y las fisuras labiales del lado izquierdo se mostraron en 18 pacientes (32,7 %). El defecto congénito aislado más usual resultó la comunicación interventricular (4,4 %) y el defecto congénito múltiple resultó el síndrome de Goldenhar (5,5 %). Conclusiones: En los niños estudiados con fisuras labiopalatinas existió predominio del sexo femenino, fundamentalmente, en las niñas con menos de cinco años. La fisura palatina aislada resultó la más frecuente; un pequeño grupo de pacientes presentó defectos congénitos asociados, sobre todo cardiovasculares; y los defectos congénitos múltiples se vincularon con mayor frecuencia con las fisuras palatinas aisladas.

Introduction: Cleft lip and palate are the most frequently seen congenital defects in pediatric maxillofacial surgery services. They appear early in intrauterine life during the embryonic and early fetal period. Objective: To examine the clinical characteristics of patients with cleft lip and palate. Methods: Descriptive, retrospective and cross-sectional study. The study universe consisted of 91 clinical histories of patients attended at the Maxillofacial Surgery Department of "William Soler Ledea" University Pediatric Hospital in Havana, between 2015 and 2019. The variables measured were age, sex, type of cleft, isolated congenital defects and multiple congenital defects. Results: Females predominated with 57.1% and ages younger than one year (54.9%). Isolated cleft palates were more frequent (39.6%) and left-sided lip clefts were present in 18 patients (32.7%). The most usual isolated congenital defect was ventricular septal defect (4.4 %) and multiple congenital defect resulted in Goldenhar syndrome (5.5%). Conclusions: In the children studied with cleft lip and palate there was a predominance of the female sex, mainly in girls under five years of age. Isolated cleft palate was the most frequent; and small group of patients presented cleft palate defects.

Higher maternal age is associated with higher occurrence of cleft lip/palate in neonates under intensive care

Aim: To assess the prevalence of cleft lip and/or cleft palate (CL/P) and associated variables in neonates admitted to neonatal intensive care units (ICU). Methods: Medical charts for neonates born and admitted to the ICU between 2012 and 2018 were reviewed. Obstetric and neonatal variables were collected by a trained researcher. In the case group, all neonates with CL/P were included. The control group was formed by matching sex, prematurity and month of birth using random number generation. Neonates with congenital malformations were excluded from the control group. Adjusted logistic regression was used (p<0.05). Results: The prevalence of CL/P was 0.43% (n=15). Five cases were excluded, as pairing was not possible. Twenty neonates were included in the control group. In the final multivariate model, CL/P was only associated with increased maternal age. For each year of increase in maternal age, neonates had a 35.2% higher chance of presenting CL/P (95% confidence interval: 1.021­1.792). Conclusions: Higher maternal age was associated with higher occurrence of CL/P in neonates admitted to the ICU. No other neonatal or maternal independent variables were associated with CL/P. Due to missing data, interpretation of study results must be approached with caution

Vírus e fissuras orofaciais: um histórico isolado e de associação / Viruses and orofacial clefts: an isolated and associational history / Virus y fisuras orofaciales: una historia aislada y asociativa

Os vírus são microrganismos comumente associados as doenças e infectam todos os seres vivos. Atuam de forma direta e indireta levando a pressão seletiva, com papel significativo e ainda em exploração no planeta. As fissuras orofaciais são anomalias congênitas de etiologia complexa e multifatorial, sendo as infecções virais durante a gestação um dos possíveis fatores etiológicos. A história da humanidade frente aos vírus e fissuras orofaciais de forma isolada é vasta, remontando a períodos antes de Cristo, seja por meio de leis para o controle de pragas e/ou por lendas de míticas criaturas deificadas e/ou demonizadas, cuja criação está fundamentada na Teoria Alegórica do surgimento das mitologias, demonstrando assim o interesse do ser humano e sua curiosidade em inovação e explicação destes assuntos. Considerando a relevância histórica, bem como a possível relação etiológica destes dois elementos, uma revisão da literatura foi realizada para apresentar a história mitológica e científica dos vírus e fissuras orofaciais, de forma isolada e associadas para fins de comparação. Para isso, foram utilizadas as bases PubMed/Medline, SciElo, LILACS e Portal Periódicos (CAPES) com os descritores: Virus, Anomalias/Anomalies, Virus and Anomalias/Virus and Anomalies, A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalies and Myths, Vampires and Virus/Vampiros and Virus. Enquanto o histórico mitológico é cheio de teorias contraditórias, o histórico cientifico acadêmico se revela coerente, porém resistente as novas áreas de atuação, não ponderando novas possibilidades e limitando a exploração científica, que só pôde ser alcançada nos séculos atuais. Quanto a associação, a linha de pesquisa relacionando vírus e fissuras orofaciais não possui nem meio século de existência, propiciando um grande campo a ser explorado e na mesma medida limitando os benefícios em prevenção que poderiam ser obtidos através destes estudos.

Viruses are microorganisms commonly associated with diseases that infect all living beings, they act directly and indirectly leading to selective pressure, their role on the planet is significant and still under exploration. Orofacial clefts are congenital anomalies that have a complex multifactorial etiology, with viral infections during pregnancy being one of the possible etiological factors. The history of humanity in the face of viruses and orofacial clefts in isolation is vast, dating back to periods before Christ, whether through laws for pest control and/or legends of mythical deified and/or demonized creatures, whose creation is fundamentalized in the Allegorical Theory of the emergence of mythologies, thus demonstrating the interest of human beings and their curiosity in innovation and explanation of these subjects. Considering the historical relevance, as well as the possible etiology relationship of these two elements, we carried out a literature review to present the mythological and scientific history of viruses and orofacial clefts, isolated and associated for comparison purposes. For this intent, the bases PubMed/Medline, SciElo, LILACS and Portal Periódicos (CAPES) were selected with the descriptors: A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalies and Myths, Vampires and Virus/Vampiros and Virus. While the mythological history is full of contradictory theories, the academic, scientific history proves to be consistent, but resistant to new areas of action, not considering new possibilities and limiting scientific exploration, which can only be achieved in the present centuries. As for the association, the line of research relating viruses and orofacial clefts does not even have half a century of existence, providing a large field to be explored and at the same time limiting the benefits of prevention that could be obtained through these studies.

Los virus son microorganismos comúnmente asociados a enfermedades que infectan a todos los seres vivos, actúan directa e indirectamente provocando presión selectiva, su papel en el planeta es significativo y aún en exploración. Las hendiduras orofaciales son anomalías congénitas que tienen una compleja etiología multifactorial, siendo las infecciones virales durante el embarazo uno de los posibles factores etiológicos. La historia de la humanidad frente a los virus y las hendiduras orofaciales de forma aislada es vasta, remontándose a períodos anteriores a Cristo, ya sea a través de leyes para el control de plagas y/o leyendas de criaturas míticas deificadas y/o demonizadas, cuya creación se fundamentaliza en la Teoría Alegórica del surgimiento de las mitologías, demostrando así el interés del ser humano y su curiosidad en la innovación y explicación de estos temas. Considerando la relevancia histórica, así como la posible relación etiológica de estos dos elementos, realizamos una revisión bibliográfica para presentar la historia mitológica y científica de los virus y las hendiduras orofaciales, aislados y asociados para fines de comparación. Para ello, se seleccionaron las bases PubMed/Medline, SciElo, LILACS y Portal Periódicos (CAPES) con los descriptores: A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalías y Mitos, Vampiros and Virus/Vampiros y Virus. Mientras que la historia mitológica está llena de teorías contradictorias, la historia académica, científica, se muestra coherente, pero resistente a nuevos campos de actuación, no considerando nuevas posibilidades y limitando la exploración científica, que sólo puede alcanzarse en los siglos actuales. En cuanto a la asociación, la línea de investigación que relaciona virus y hendiduras orofaciales no tiene ni medio siglo de existencia, proporcionando un gran campo a ser explorado y al mismo tiempo limitando los beneficios de prevención que podrían ser obtenidos a través de estos estudios.

Craniofacial morphology of patients with unilateral cleft lip and palate at two stages of skeletal maturation

Abstract The aim of this retrospective cross-sectional investigation was to perform a 3D analysis of craniofacial morphology of patients with unilateral cleft lip and palate (UCLP) at two stages of skeletal maturation. Cone-beam computed tomography (CBCT) scans of 52 UCLP patients (34 prepubertal; 18 pubertal) were collected from an outpatient referral center for the treatment of craniofacial deformities. In total 15 multiplanar craniofacial landmarks were identified, 3D virtual surface models were created, and 13 variables were measured to assess the 3D Euclidean distances between landmarks and spatial position of the landmarks in the projected X, Y and Z components. Maxillary and mandibular pitch (clockwise, counterclockwise) rotation relative to the cranial base was also evaluated. The significance level was set at 5%. Maxillary retrusion value relative to the cranial base was higher and statistically significant greater (p = 0.028) in pubertal (SNA, 77.4° ± 6.2; N-ANS Y, 3.3 mm ± 3.1) than in prepubertal patients (SNA 81.0° ± 5.2; N-ANS Y, 5.8 mm ± 2.7). The posterior cranial base length (S-Ba Y) was significantly longer (p = 0.013) in pubertal (20.7 mm ± 3.4) than in prepubertal patients (18.4 mm ± 2.7). The upper facial height (N-ANS Z) was significantly greater (p = 0.01) in pubertal (46.9 mm ± 4.5) than in prepubertal patients (43.4 mm ± 3.0). Prepubertal and pubertal UCLP patients presented distinct patterns of craniofacial morphology, mainly in the sagittal component of the maxilla and in the posterior cranial base length. Pubertal patients had greater maxillary retrusion and posterior cranial base length.

Prenatal diagnosis of orofacial clefts: unveiling the parents' experience / Diagnóstico pré-natal das fissuras orofaciais: desvelando a experiência dos pais

ABSTRACT Objective: To understand the experience of parents regarding prenatal diagnosis of orofacial cleft in their children. Methods: Descriptive study with a qualitative approach, carried out in a Brazilian public tertiary hospital between January and March 2019. Parents who were accompanying their children during hospitalization for primary surgeries and who had received the diagnosis of malformation during pregnancy were included in this study. Data was collected through semi-structured interviews, which were audio-recorded and transcribed in full. To prepare the results, Content Analysis was used in the Thematic modality. Results: The sample had 17 participants: 16 mothers and one father. From the speeches, three categories were unveiled: dealing with the unknown, assimilating the diagnosis, and positive and negative implications of prenatal diagnosis. Conclusions: We learned how complex and conflicting it was for parents to receive the diagnosis of malformation in their children, and that family and professional support was essential to the process of assimilation and coping. The findings point to the need for planning and implementing interventions, protocols and/or public policies aimed at assisting these parents in this period.

RESUMO Objetivo: Compreender a experiência de pais quanto ao diagnóstico pré-natal da fissura orofacial em seu filho. Métodos: Estudo descritivo, de abordagem qualitativa, realizado em hospital público e terciário brasileiro, entre janeiro e março de 2019. Foram incluídos pais que acompanhavam os filhos durante a internação para realização de cirurgias primárias, e que haviam recebido o diagnóstico da malformação durante o período gestacional. A coleta de dados foi realizada por meio de entrevista semiestruturada, que foi gravada e transcrita na íntegra. Para confecção dos resultados utilizou-se a Análise de Conteúdo na modalidade temática. Resultados: A amostra constou de 17 participantes, dos quais 16 mães e um pai. Com base nos discursos, desvelaram-se três categorias: lidando com o desconhecido; assimilando o diagnóstico; e implicações positivas e negativas do diagnóstico no pré-natal. Conclusões: Apreendeu-se quão complexo e conflitante foi para os pais receber o diagnóstico da malformação em seu filho, e o apoio familiar e profissional estabeleceu-se como indispensável ao processo de assimilação e enfrentamento. Os achados apontaram a necessidade de planejar e implementar intervenções, protocolos e/ou políticas públicas, para assistir esses pais nesse período.

Smoking in adolescents with cleft lip and/or palate: prevalence and associated factors / Tabagismo em adolescentes com fissura de lábio e/ou palato: prevalência e fatores associados

Abstract Objective: To assess the prevalence and factors associated with smoking in adolescents with cleft lip and/or palate. Methods: This is a cross-sectional study, developed in a Brazilian public and tertiary hospital between November 2018 and August 2019. Adolescents aged between 12 and 19 years old, previously submitted to cheiloplasty and/or palatoplasty surgeries were included. Data collection was carried out through interviews, guided by questionnaires referring to sociodemographic issues, use and factors associated with smoking. For statistical analysis, Fisher's Exact Test, Chi-square, Student's t test and bivariate logistic regression were used, all with a significance level of 5% (p≤0.05). Results: 102 adolescents participated. The prevalence of smoking was 20.6% (n=21). Having cleft lip and palate was associated with smoking (p=0.012). The bivariate analysis showed that not dating (p=0.001; OR=0.19) and owning a home (p=0.032; OR=0.33) were configured as protective factors for the act of being a smoker, while believing that smoking facilitates interaction with young people or with the group of friends (p=0.043; OR=2.95), having friends who use alcoholic beverages (p=0.002; OR=8.40), having friends who use drugs, except cigarettes (p=0.002; OR=5.33), use alcoholic beverages (p<0.001; OR=10.67) and sexual initiation (p<0.001; OR=7.00), were associated with being a smoker. Conclusions: From the knowledge of the profile of adolescents most vulnerable to tobacco use, it is possible to plan and implement educational and preventive actions.

RESUMO Objetivo: Avaliar a prevalência e os fatores associados ao tabagismo em adolescentes com fissura de lábio e/ou palato. Métodos: Estudo de corte transversal, desenvolvido em um hospital público e terciário brasileiro entre novembro de 2018 e agosto de 2019. Foram incluídos adolescentes com idade entre 12 e 19 anos, submetidos previamente às cirurgias de queiloplastia e/ou palatoplastia. A coleta de dados foi realizada por meio de entrevista, guiada por questionários referentes a questões sociodemográficas, uso e fatores associados ao tabagismo. Para a análise estatística, utilizaram-se os testes: exato de Fisher, qui-quadrado, t de Student e regressão logística bivariada, todos com nível de significância de 5% (p ≤ 0,05). Resultados: Participaram 102 adolescentes. A prevalência do tabagismo foi de 20,6% (n=21). Possuir fissura de lábio e palato associou-se ao tabagismo (p=0,012). A análise bivariada mostrou que não namorar (p=0,001; OR=0,19) e possuir habitação própria (p=0,032; OR=0,33) configuraram fatores de proteção para o ato de ser tabagista, enquanto acreditar que fumar facilita a interação com os jovens ou com o grupo de amigos (p=0,043; OR=2,95), ter amigos que usam bebida alcoólica (p=0,002; OR=8,40), ter amigos que usam drogas, exceto o cigarro (p=0,002; OR=5,33), usar bebida alcoólica (p<0,001; OR=10,67) e iniciação sexual (p<0,001; OR=7,00) associaram-se a ser tabagista. Conclusões: Pelo conhecimento do perfil dos adolescentes mais vulneráveis ao uso do tabaco, é possível planejar e programar ações educativas e preventivas.

Does the rehabilitation treatment predispose the patient with cleft to endodontic treatment?

Aim: to verify the relation between endodontic treatment of teeth adjacent to the cleft area and the rehabilitation of patients with unilateral cleft lip and palate, at the Hospital for Rehabilitation of Craniofacial Anomalies. Methods: the present split-mouth study was composed of 406 individuals with complete unilateral cleft lip and palate who had completed the rehabilitation process in a single tertiary cleft center (55.9% males). The information was collected from the dental history on the patients' records and radiographs. The frequency of endodontic treatment in the upper incisors and canines was calculated for the cleft and non-cleft sides. The comparison between sides was performed by the chi-square test (p <0.05). Results: endodontic treatment was more frequent in teeth adjacent to the cleft than in contralateral teeth. The frequency of endodontic treatment in at least one tooth adjacent to the cleft was 18.97%, and 11.6% on the contralateral side. It was observed that endodontic treatment was necessary in 63.5% of patients who had been submitted to orthodontic treatment, 42.4% of those rehabilitated with fixed partial dentures and 12.0% of patients who underwent dental reshaping of teeth adjacent to the cleft. The treatments performed included vital pulp therapy (46.1%), non-vital pulp therapy (46.8%) and endodontic retreatment (7.1%). Conclusion: in individuals with complete cleft lip and palate, teeth close to the bone defect area and used for rehabilitation treatment presented greater need of endodontic intervention

Implications of anatomical variation of the sphenoid sinus for orthognathic surgery: a case report in cone beam computed tomography / Implicações da variação anatômica do seio esfenoidal para cirurgia ortognática: um relato de caso em tomografia computadorizada de feixe cônico

ABSTRACT The Sphenoid Sinus is considered the paranasal sinus with more variation to the degree of pneumatization. Thus, this work aimed report to the first case on the interference of this anatomical variation for orthognathic surgery. A 18- year-old woman, with isolated cleft palate repaired, was submitted to orthognathic surgery to correct the maxillomandibular skeletal discrepancy. The cone beam computed tomography (CBCT) exam performed for preoperative planning showed a great extension for the adjacent structures, with proximity to the posterior wall of the maxillary sinus and pterygomaxillary fissure bilaterally. The postoperative CBCT image evidenced the compromise of the sinus floor due to the factors related to the transoperative period. This case, along with literature review, highlighted the importance of identifying sphenoid sinus variation in CBCT exams prior to orthognathic surgery, in order to avoid serious complications for the patient, such as sinus infections; hemorrhages; mucocele formation or intracranial involvement.

RESUMO O Seio Esfenoidal é considerado o seio paranasal com maior variação quanto ao grau de pneumatização. Assim, este trabalho objetivou relatar o primeiro caso sobre a interferência dessa variação anatômica para a cirurgia ortognática. Mulher,18 anos, com fissura de palato isolada reparada, foi submetida à cirurgia ortognática para correção da discrepância esquelética maxilomandibular. O exame de tomografia computadorizada de feixe cônico (TCFC), realizado para planejamento pré-operatório, mostrou grande extensão para as estruturas adjacentes, e com proximidade da parede posterior do seio maxilar e fissura pterigomaxilar bilateralmente. A imagem de TCFC pós-operatória evidenciou o comprometimento do assoalho do seio devido aos fatores relacionados ao transoperatório. Este caso, juntamente com a revisão da literatura, destacou a importância de identificar a variação do seio esfenoidal nos exames de TCFC prévios à cirurgia ortognática, a fim de evitar complicações graves para o paciente, tais como sinusite, hemorragias, formação de mucoceles ou, até mesmo, envolvimento intracraniano.