Clinical and sociodemographic findings in a cohort of 4632 pediatric patients with language, speech and learning disorders.

OBJETIVO: Describir y analizar aspectos clínicos y sociodemográficos de una cohorte de pacientes con trastornos del lenguaje, del habla y del aprendizaje. MÉTODO: Estudio retrospectivo descriptivo. Se seleccionaron expedientes de 4632 pacientes (años 2011 a 2015). Se calcularon medias, desviaciones estándar, porcentajes y frecuencias, Con la finalidad de evaluar si existía diferencia significativa entre variables se utilizó la prueba de ji al cuadrado y se realizó un análisis de probabilidad condicional entre las variables para obtener la probabilidad a priori y a posteriori. RESULTADOS: Los trastornos del lenguaje, del habla y del aprendizaje se presentaron con mayor frecuencia en el sexo masculino, con 3358 pacientes (72.5%). El diagnóstico más frecuente fue el trastorno del lenguaje, diagnosticado en 2924 pacientes (63.1%). Se encontraron mayores incidencia y prevalencia de retraso del lenguaje en el sexo masculino (p < 0.05). CONCLUSIONES: De todas las variables estudiadas, solo la incidencia de retraso en el desarrollo del lenguaje con respecto al sexo masculino fue significativa; de cada cuatro pacientes, tres eran de sexo masculino y uno de sexo femenino. OBJECTIVE: To describe and analyze clinical and sociodemographic aspects of a cohort of patients with language, speech and learning disorder. METHOD: Descriptive retrospective study. Patient records (2011 to 2015) were selected, making up a total of 4632. Averages, standard deviations, percentages and frequencies were calculated; in order to assess whether there was a significant difference between variables, chi squared test and a conditional probability analysis was performed between the variables to obtain a priori and a posteriori probability. RESULTS: Disorders of language, speech and learning occurred more frequently in males, 3358 patients (72.5%). The most frequent diagnosis was language development disorder, diagnosed in 2924 patients (63.1%). A higher incidence and prevalence of language delay were found for the male sex (p < 0.05). CONCLUSIONS: Of all the variables studied, only the incidence of delay in language development with respect to the male sex was significant; three out of four patients were male and 1 female.

Right cerebral hemisphere and central auditory processing in children with developmental dyslexia / El hemisferio cerebral derecho y el procesamiento auditivo central en ninos con dislexia del desarrollo

Objective We hypothesized that if the right hemisphere auditory processing abilities can be altered in children with developmental dyslexia (DD), we can detect dysfunction using specific tests. Method We performed an analytical comparative cross-sectional study. We studied 20 right-handed children with DD and 20 healthy right-handed control subjects (CS). Children in both groups were age, gender, and school-grade matched. Focusing on the right hemisphere’s contribution, we utilized tests to measure alterations in central auditory processing (CAP), such as determination of frequency patterns; sound duration; music pitch recognition; and identification of environmental sounds. We compared results among the two groups. Results Children with DD showed lower performance than CS in all CAP subtests, including those that preferentially engaged the cerebral right hemisphere. Conclusion Our data suggests a significant contribution of the right hemisphere in alterations of CAP in children with DD. Thus, right hemisphere CAP must be considered for examination and rehabilitation of children with DD. .

Objectivo Examinamos si las habilidades del procesamiento auditivo central (PAC) del hemisferio derecho se encuentran alteradas en niños con dislexia del desarrollo (DD), por medio de pruebas específicas. Método Realizamos un estudio comparativo transversal. Estudiamos 20 niños diestros con DD y 20 niños controles (C) sanos. Los niños de ambos grupos fueron pareados por edad, género y grado escolar. Utilizamos varias pruebas para medir alteraciones del PAC, tales como: determinación de patrones de frecuencia; duración del sonido; reconocimiento de tono musical e identificación de sonidos ambientales, enfatizando la contribución del hemisferio derecho. Comparamos los resultados entre los niños con DD y C. Resultados Los niños con DD mostraron menores puntuaciones que los C en todas las subpruebas del PAC, incluyendo aquellas que involucran preferencialmente al hemisferio cerebral derecho. Conclusión Los datos obtenidos sugieren una contribución significativa del hemisferio derecho para producir alteraciones del PAC en niños con DD. Por lo tanto, las PAC que involucran al hemisferio derecho deben ser consideradas en la evaluación y rehabilitación de niño s con DD. .

Right cerebral hemisphere and central auditory processing in children with developmental dyslexia.

OBJECTIVE: We hypothesized that if the right hemisphere auditory processing abilities can be altered in children with developmental dyslexia (DD), we can detect dysfunction using specific tests. METHOD: We performed an analytical comparative cross-sectional study. We studied 20 right-handed children with DD and 20 healthy right-handed control subjects (CS). Children in both groups were age, gender, and school-grade matched. Focusing on the right hemisphere's contribution, we utilized tests to measure alterations in central auditory processing (CAP), such as determination of frequency patterns; sound duration; music pitch recognition; and identification of environmental sounds. We compared results among the two groups. RESULTS: Children with DD showed lower performance than CS in all CAP subtests, including those that preferentially engaged the cerebral right hemisphere. CONCLUSION: Our data suggests a significant contribution of the right hemisphere in alterations of CAP in children with DD. Thus, right hemisphere CAP must be considered for examination and rehabilitation of children with DD.

Unique spectrum of GJB2 mutations in Mexico.

OBJECTIVE: The aim of this study was to elucidate the involvement of mutations in three relatively common deafness genes in Mexican individuals with non-syndromic hearing loss. METHODS: We sequenced GJB2 for mutations, screened for two deletions involving GJB6, del(GJB6-D13S1830) and del(GJB6-D13S1854), and for the m.1555A>G mutation in the MTRNR1 gene in 76 (71 simplex and 5 multiplex) unrelated Mexican probands with prelingual non-syndromic hearing loss. Samples were obtained from the Department of Genetics at Instituto Nacional de Rehabilitacion in Mexico City. RESULTS: Eight previously reported pathogenic variants and two polymorphic variants in GJB2 were identified. The two screened GJB6 deletions and the m.1555A>G mutation were not detected. Eight cases (10.6%) were found to have bi-allelic mutations in GJB2 and six (7.9%) were found to have a monoallelic GJB2 mutation. Of the six monoallelic mutations, one (p.R184Q) was a previously reported autosomal dominant variant. The most frequent pathological allele detected in this population was the c.35delG mutation in the GJB2 gene. The p.V27I polymorphic variant was also detected, with an allele frequency of 0.24. All eight probands with GJB2 mutations had symmetric profound deafness, whereas patients without GJB2 mutations had moderate, severe or profound hearing loss. CONCLUSIONS: This study shows that GJB2 mutations are an important cause of prelingual deafness in the Mexican population.