Auditory and language skills in children with cleft lip and palate.

OBJECTIVES: to investigate auditory and language skills in children with repaired cleft lip and palate. METHODS: The sample was composed of 22 children registered at the hospital where the study was conducted, seven to nine years old, 50% being female, with repaired unilateral cleft lip and palate (right or left), without associated malformations. Auditory skills were assessed using four central auditory processing tests: Random Gap Detection Test, Dichotic Digit Test, Dichotic Non-Verbal Test, Sustained Auditory Attention Ability Test. Language performance was evaluated by four standardized instruments: Illinois Psycholinguistic Skills Test, Peabody Picture Vocabulary Test, Token Test and Phonological Skills Profile. The association between auditory and language skills was evaluated by the Fisher exact test at a significance level of 5% (p<.05). RESULTS: The central auditory processing tests evidenced that only one child presented adequate performance in all skills analysed, five children presented impaired performance in all skills, and 16 exhibited deteriorations in one to three auditory skills, highlighting that temporal resolution was the most impaired skill (81%). Concerning language, three children presented adequate performance in all tests applied, and Visual Association and Auditory Association were the most impaired skills (40%). No association was observed between deteriorations in auditory and language skills. CONCLUSION: There was high occurrence of impairment of auditory skills, which compose the central auditory processing, as well as of language skills, with greatest impairment of receptive language.

Auditory and language skills in children with cleft lip and palate

Objectives: to investigate auditory and language skills in children with repaired cleft lip and palate. Methods: The sample was composed of 22 children registered at the hospital where the study was conducted, seven to nine years old, 50% being female, with repaired unilateral cleft lip and palate (right or left), without associated malformations. Auditory skills were assessed using four central auditory processing tests: Random Gap Detection Test, Dichotic Digit Test, Dichotic Non-Verbal Test, Sustained Auditory Attention Ability Test. Language performance was evaluated by four standardized instruments: Illinois Psycholinguistic Skills Test, Peabody Picture Vocabulary Test, Token Test and Phonological Skills Profile. The association between auditory and language skills was evaluated by the Fisher exact test at a significance level of 5% (p<.05). Results: The central auditory processing tests evidenced that only one child presented adequate performance in all skills analysed, five children presented impaired performance in all skills, and 16 exhibited deteriorations in one to three auditory skills, highlighting that temporal resolution was the most impaired skill (81%). Concerning language, three children presented adequate performance in all tests applied, and Visual Association and Auditory Association were the most impaired skills (40%). No association was observed between deteriorations in auditory and language skills. Conclusion: There was high occurrence of impairment of auditory skills, which compose the central auditory processing, as well as of language skills, with greatest impairment of receptive language.(AU)

Objetivos: Investigar las habilidades auditivas y lingüísticas en niños con labio leporino y paladar reparados. Métodos: La muestra se compuso de 22 niños registrados en el hospital en el que se realizó el estudio, de 7 a 9 años de edad, siendo el 50% niñas con labio leporino unilateral y paladar (derecho o izquierdo) reparados, sin malformaciones. Las habilidades auditivas se evaluaron utilizando 4 pruebas de procesamiento auditivo central: Random Gap Detection Test, Dichotic Digit Test, Dichotic Non-Verbal Test y Sustained Auditory Attention Ability Test. El desempeño lingüístico se evaluó utilizando diversos instrumentos estandarizados: Illinois Psycholinguistic Skills Test, Peabody Picture Vocabulary Test, Token Test y Phonological Skills Profile. La asociación entre las habilidades auditivas y lingüísticas se evaluó mediante la prueba exacta de Fisher, con un nivel de significación del 5% (p<0,05). Resultados: Las pruebas de procesamiento auditivo central evidenciaron que solo un niño presentó un desempeño adecuado en todas las habilidades analizadas, 5 niños presentaron una alteración del desempeño en todas las habilidades y 16 niños mostraron alteraciones en una de las 3 habilidades auditivas, subrayando que la resolución temporal fue la habilidad más deficiente (81%). Con relación al lenguaje, 3 niños presentaron un desempeño adecuado en todas las pruebas aplicadas, siendo las habilidades más deficientes la asociación visual y la asociación auditiva (40%). No se observó asociación entre las alteraciones de las habilidades auditivas y lingüísticas. Conclusión: Existió una alta incidencia de alteraciones de las habilidades auditivas que componen el procesamiento auditivo central, así como habilidades lingüísticas con gran alteración del lenguaje receptivo.(AU)

Auditory and language skills in children with cleft lip and palate.

OBJECTIVES: to investigate auditory and language skills in children with repaired cleft lip and palate. METHODS: The sample was composed of 22 children registered at the hospital where the study was conducted, seven to nine years old, 50% being female, with repaired unilateral cleft lip and palate (right or left), without associated malformations. Auditory skills were assessed using four central auditory processing tests: Random Gap Detection Test, Dichotic Digit Test, Dichotic Non-Verbal Test, Sustained Auditory Attention Ability Test. Language performance was evaluated by four standardized instruments: Illinois Psycholinguistic Skills Test, Peabody Picture Vocabulary Test, Token Test and Phonological Skills Profile. The association between auditory and language skills was evaluated by the Fisher exact test at a significance level of 5% (p<.05). RESULTS: The central auditory processing tests evidenced that only one child presented adequate performance in all skills analysed, five children presented impaired performance in all skills, and 16 exhibited deteriorations in one to three auditory skills, highlighting that temporal resolution was the most impaired skill (81%). Concerning language, three children presented adequate performance in all tests applied, and Visual Association and Auditory Association were the most impaired skills (40%). No association was observed between deteriorations in auditory and language skills. CONCLUSION: There was high occurrence of impairment of auditory skills, which compose the central auditory processing, as well as of language skills, with greatest impairment of receptive language.

Determinación de la frecuencia de PNUs en una población heterogénea cerrada y su utilidad como marcadores para estudios de asociación genética en casos de labio y paladar hendido no sindrómico / Determination of frequency of SNP's in a population of mixed genetic origin and its use as genetic markers for association studies in cases of not syndromic cleft lip and palate

RESUMEN El labio y paladar hendido es una de las patologías congénitas con mayor prevalencia en el mundo. En el presente trabajo se hace un análisis de 12 PNU localizados en las secuencias genómicas de ABCA4, BMP4, MSX1, SUMO1, VAX1 y IRF6, bajo una perspectiva epidemiológica, de genética molecular, genómica y de genética de poblaciones; todo lo anterior aplicado a una población de Querétaro, México, de origen genético mixto. Material y métodos: Se realizó un estudio observacional, analítico y descriptivo a partir de muestras de 93 tríadas (sujetos de estudio y sus padres). Al seleccionar PNU que puedan ser diferenciados por medio de RFLP esperamos distinguir entre marcadores genéticos que: 1) cumplan con la ecuación de equilibrio de Hardy-Weinberg y 2) validarlos como potenciales marcadores genéticos para ser empleados en estudios de asociación en poblaciones cerradas de origen genético mixto con labio y paladar hendido (Amealco, Querétaro, México). De ser así, posteriormente se plantea probar las frecuencias obtenidas con una población seleccionada genéticamente cerrada de Amealco, Querétaro. Resultados: Después de realizar el análisis RFLP de 12 PNU localizados en la secuencia de genes ABCA4, BMP4, MSX1, SUMO1, VAX1 y IRF6, hallamos el mismo alelo para PNU analizado, el cual se encuentra en el 100% de la población. Conclusión: De los 12 PNU analizados, en este reporte, por primera vez se menciona la frecuencia de cinco de ellos. Los restantes siete presentaron la misma frecuencia reportada en la literatura. Aunque los PNU seleccionados no fueron de utilidad como marcadores genéticos debido a que el mismo alelo está presente en el 100% de la población general. El hecho de haberlos encontrado en el mismo genotipo de todas las muestras indica que la población de la ciudad de Querétaro es genéticamente cerrada y con base en esto extremadamente útil para futuras validaciones de otros PNU como posibles marcadores genéticos.

ABSTRACT The cleft lip and palate is one of the congenital pathologies with greater prevalence in the world. In the present work, there is an analysis of 12 SNP's located in genomic sequences of ABCA4, BMP4, MSX1, SUMO1, VAX1 andIRF6, under an epidemiological perspective, molecular genetics, genomics and population genetics. All of the above applied to a population of Queretaro, Mexico, of mixed genetic origin. Material and methods: A study was conducted of observation, analytic and descriptive study with samples from 93 triads (study subjects and their parents). When you select SNP's that can be differentiated by RFLP (Restriction Fragment Length Polymorphism)we hope to distinguish between genetic markers that: 1)comply with the equation of balance of Hardy-Weiner and 2) Validate them as potential genetic markers to be used in studies of association in closed populations of genetic origin mixed with cleft lip and palate in Amealco, Queretaro, Mexico. If so subsequently raises test the frequencies obtained with a selected population genetically closed in Amealco, Queretaro. Results: After performing the RFLP analysis of 12 SNP's located in the sequence of genes ABCA4, BMP4, MSX1, SUMO1, VAX1 and IRF6, we find the same allele for SNP analyzed which is located in the 100% of the population. Conclusion: Of the 12 SNP's analyzed in this report, for the fi rst time 5 of them are mentioned their frequency. The rest of them had the same frequency reported in the literature. Although the SNP's selected were not useful as a genetic markers due to the same allele is present in 100% of the general population. The fact of having found in the same genotype of all samples indicates that the population of the city of Queretaro is genetically closed and on the basis of this extremely useful for future validations of other SNP's as potential genetic markers.