RESUMO
Introduction: Copy-number variations (CNVs) impacting on small DNA stretches and associated with language deficits provide a unique window to the role played by specific genes in language function. Methods: We report in detail on the cognitive, language, and genetic features of a girl bearing a small deletion (0.186 Mb) in the 2p16.3 region, arr[hg19] 2p16.3(50761778_50947729)×1, affecting exons 3-7 of NRXN1, a neurexin-coding gene previously related to schizophrenia, autism (ASD), attention deficit hyperactivity disorder (ADHD), mood disorder, and intellectual disability (ID). Results: The proband exhibits many of the features commonly found in subjects with deletions of NRXN1, like ASD-like traits (including ritualized behaviors, disordered sensory aspects, social disturbances, and impaired theory of mind), ADHD symptoms, moderate ID, and impaired speech and language. Regarding this latter aspect, we observed altered speech production, underdeveloped phonological awareness, minimal syntax, serious shortage of active vocabulary, impaired receptive language, and inappropriate pragmatic behavior (including lack of metapragmatic awareness and communicative use of gaze). Microarray analyses point to the dysregulation of several genes important for language function in the girl compared to her healthy parents. Discussion: Although some basic cognitive deficit - such as the impairment of executive function - might contribute to the language problems exhibited by the proband, molecular evidence suggests that they might result, to a great extent, from the abnormal expression of genes directly related to language.
RESUMO
BACKGROUND: This study seeks to analyse the relationship between behaviour problems in deaf children and their auditory and communication development subsequent to cochlear implantation and to examine the incidence of these problems in comparison to their hearing peers. METHOD: This study uses an ex post facto prospective design with a sample of 208 Spanish children, of whom 104 were deaf subjects with cochlear implants. The first objective assesses the relationships between behaviour problems, auditory integration, and social and communication skills in the group of deaf children. The second compares the frequency and intensity of behaviour problems of the group of deaf children with their hearing peers. RESULTS: The correlation analysis showed a significant association between the internal index of behaviour problems and auditory integration and communication skills, such that deaf children with greater auditory and communication development had no behaviour problems. When comparing behaviour problems in deaf children versus their hearing peers, behavioural disturbances are significantly more frequent in the former. CONCLUSIONS: According to these findings, cochlear implants may not guarantee adequate auditory and communicative development that would normalise the behaviour of deaf children
ANTECEDENTES: resulta importante la relación entre los problemas de conducta y el desarrollo auditivo posterior al implante coclear en niños sordos y la frecuencia de estos problemas respecto a los oyentes. MÉTODO: se trata de un diseño ex post facto prospectivo de 208 niños, de los cuales 104 eran sordos implantados. En primer lugar se evaluó la relación entre los problemas de comportamiento y la integración auditiva, habilidades sociales y de comunicación en el grupo de sordos. En segundo se comparó la frecuencia e intensidad de estos problemas de los sordos respecto a los oyentes. RESULTADOS: se aprecia relación entre el índice interno de los problemas de comportamiento y las habilidades de integración y comunicación auditivas. De tal manera que los niños sordos con mayor desarrollo auditivo y de la comunicación no presentaron problemas de comportamiento. Al comparar los problemas de conducta en los niños sordos con sus compañeros oyentes, las alteraciones del comportamiento son significativamente más frecuentes en los primeros. CONCLUSIONES: es posible que los implantes cocleares no garanticen un desarrollo auditivo y de la comunicación suficiente para normalizar el comportamiento de los niños sordos
Assuntos
Criança , Feminino , Humanos , Masculino , Implantes Cocleares/tendências , Implantes Cocleares , Implante Coclear/psicologia , Comportamento Infantil/psicologia , Correção de Deficiência Auditiva/psicologia , Pessoas com Deficiência Auditiva/psicologia , Pessoas com Deficiência Auditiva/reabilitação , Educação de Pessoas com Deficiência Auditiva/organização & administração , Estudos ProspectivosRESUMO
El implante coclear ha revolucionado el tratamiento de las pérdidas graves de audición. Las funciones auditivas son las primeras que se despliegan después de la conexión de este dispositivo, y en ellas se apoyará el desarrollo del habla, del lenguaje y de la comunicación oral. Nuestros objetivos fueron, en primer lugar, evaluar las funciones auditivas (percepción, comunicación e integración auditiva) en un grupo de 116 niños sordos españoles mediante la Escala de Integración Auditiva para Niños, y en segundo lugar, analizar los factores implicados en este proceso. Según los datos obtenidos, no todos estos niños habían conseguido que sus funciones auditivas fuesen las esperadas por el uso continuado y suficiente del implante. Quienes recibieron su implante a edades más tempranas presentaban una integración auditiva conforme a lo esperado. Otras variables, como la marca del implante y la adaptación previa de audífonos, han resultado asimismo señaladas como factores predictores para la percepción auditiva. No obstante, se plantea la necesidad de evaluar muestras más extensas por la gran cantidad de factores implicados. A tenor de los resultados, planteamos la necesidad de reflexionar acerca del riesgo que supone asimilar, en cualquier caso, el implante coclear en población infantil con un adecuado desarrollo auditivo (AU)
Cochlear implantation in children has revolutionized the treatment of prelingual, profound and sensorineural deafness. Auditory functions are the first to develop after connecting the device and are those that support the development of speech, language and oral communication. The aims of this study were firstly to evaluate auditory functions (perception, communication and auditory integration) in a group of 116 deaf Spanish children through the Meaningful Auditory Integration Scale (MAIS), and secondly to analyze the factors involved in this process. According to the results, not all children in the sample achieved the expected development of auditory functions, despite using the device daily and for a minimum of 12 months. The children who achieved the expected auditory development were those who received their cochlear implant at a younger age. Other variables, such as the make of the implant and prior adaptation of the headphones, were also predictive factors for auditory perception. Nevertheless, due to the large number of factors involved, further studies should be performed with larger samples. The results of this study suggest that the use of cochlear implant alone may not be sufficient for the development of auditory functions (AU)
