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Introduction Reading is a highly refined skill that encompasses two main components: decoding graphic symbols and understanding the written message. These aspects generally develop together, but reading comprehension is a much more complex process, sustained not only by the identification of written words and vocabulary but also by language systems, such as syntax and general knowledge. Although there is a well-established technique for performing the phoniatric assessment, there is no common use of tests that assess reading comprehension or the association of this information with other assessment data. Objective The objective of this study is, in the context of the phoniatric consultation, to evaluate the reading and retelling in children with relevant reading difficulties and to correlate the decoding and comprehension problems with the alterations observed in auditory and visual perceptual tests, pointing out the evidence that best contributed to the differential diagnosis of these subjects. Methods Starting from a population of 301 children enrolled in the 4th and 5th grades of elementary school, 13 children with evident reading and writing difficulties were evaluated regarding the reading and retelling tasks and separated into groups according to the problem of decoding, fluency, and comprehension. Reading performance was correlated with the performance in visual and auditory perceptual tests and based on the similarity analysis, the tests considered to be the most relevant in the diagnosis process of these children were identified. Result The results suggest that the tasks: naming of figures, repetition of numbers in reverse order, figure copying, syllabic synthesis, phonemic synthesis, rhyme, and phonemic manipulation altogether contribute to diagnosis and multidisciplinary intervention aspects. Conclusion Some tasks are more relevant to the diagnostic process of children with complaints of learning difficulties in reading.

Whole-exome sequencing of samples from affected members of two unrelated families with late-onset non-syndromic hearing loss revealed a novel mutation (c.2090 T > G; NM_017433) in MYO3A. The mutation was confirmed in 36 affected individuals, showing autosomal dominant inheritance. The mutation alters a single residue (L697W or p.Leu697Trp) in the motor domain of the stereocilia protein MYO3A, leading to a reduction in ATPase activity, motility, and an increase in actin affinity. MYO3A-L697W showed reduced filopodial actin protrusion initiation in COS7 cells, and a predominant tipward accumulation at filopodia and stereocilia when coexpressed with wild-type MYO3A and espin-1, an actin-regulatory MYO3A cargo. The combined higher actin affinity and duty ratio of the mutant myosin cause increased retention time at stereocilia tips, resulting in the displacement of the wild-type MYO3A protein, which may impact cargo transport, stereocilia length, and mechanotransduction. The dominant negative effect of the altered myosin function explains the dominant inheritance of deafness.

O presente estudo teve como objetivo descrever os achados audiológicos e genéticos de nove membros de uma família brasileira que apresenta a mutação no DNA mitocondrial. Todos os nove membros realizaram estudo genético, avaliação foniátrica e audiológica (audiometria tonal e logoaudiometria). O estudo genético revelou a presença de mutação mitocondrial A1555G no gene 12S rRNA (MT-RNR-1) do DNA mitocondrial em todos os sujeitos. Oito sujeitos apresentaram deficiência auditiva e somente um apresentou limiares auditivos normais até o término da realização do estudo. Os resultados audiológicos apontaram para perdas auditivas bilaterais, com prevalência das simétricas, de configurações e graus variados (de moderado a profundo) e pós-linguais. Progressão da perda auditiva foi observada em dois irmãos afetados. Não foi possível afirmar a época do início da perda auditiva por falta de informação dos sujeitos, no entanto, observou-se manifestação da perda em crianças e adultos. As mutações no DNA mitocondrial representam uma causa importante de perda auditiva, sendo imprescindível a realização do diagnóstico etiopatológico, a fim de retardar o início ou evitar a progressão da surdez.We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight individuals among the A1555G carriers were affected by hearing impairment and one person had normal hearing thresholds till the end of the present study. The audiologic evaluation results indicated normal hearing thresholds all the way to bilateral profound hearing loss with post-lingual onset and variable configuration. Two affected siblings presented progressive hearing loss. It was impossible to precise the time of hearing loss onset; however, the impairment was present in both children and adults. The genetic study revealed the A1555G mitochondrial mutation in the 12SrRNA gene. Given the prevalence of mitochondrial mutations as a cause of hearing loss, it is fundamental to perform the etiopathologic diagnosis in order to postpone the onset or avoid hearing impairment progression. This kind of hearing impairment represents a challenge to the professionals since there are no physical traits that indicate genetic transmission.

O presente estudo teve como objetivo descrever os achados audiológicos e genéticos de nove membros de uma família brasileira que apresenta a mutação no DNA mitocondrial. Todos os nove membros realizaram estudo genético, avaliação foniátrica e audiológica (audiometria tonal e logoaudiometria). O estudo genético revelou a presença de mutação mitocondrial A1555G no gene 12S rRNA (MT-RNR-1) do DNA mitocondrial em todos os sujeitos. Oito sujeitos apresentaram deficiência auditiva e somente um apresentou limiares auditivos normais até o término da realização do estudo. Os resultados audiológicos apontaram para perdas auditivas bilaterais, com prevalência das simétricas, de configurações e graus variados (de moderado a profundo) e pós-linguais. Progressão da perda auditiva foi observada em dois irmãos afetados. Não foi possível afirmar a época do início da perda auditiva por falta de informação dos sujeitos, no entanto, observou-se manifestação da perda em crianças e adultos. As mutações no DNA mitocondrial representam uma causa importante de perda auditiva, sendo imprescindível a realização do diagnóstico etiopatológico, a fim de retardar o início ou evitar a progressão da surdez.

Há vários aspectos controversos no tratamento da paralisia facial traumática. Um destes é a natureza precisa da intervenção cirúrgica a ser usada, uma vez que a decisão de ser realizada tenha sido feita. FORMA DE ESTUDO: Clínico retrospectivo. OBJETIVOS E MÉTODOS: Entre o período de junho de 1984 e junho de 1993, 220 casos de paralisia facial traumática com boa função coclear foram tratados na Universidade de São Paulo pela seguinte técnica cirúrgica: descompressão dos segmentos mastóideo e timpânico através do acesso transmastoídeo e descompressão do gânglio geniculado e dos 50% distais do segmento labiríntico, usando-se o acesso pela fossa média. Apresentamos uma revisão de literatura e a discussão e resultados de nosso trabalho. Management of traumatic facial paralysis has several controversial aspects. One of these is the precise nature of surgical intervention to be used once the decision to operate has been made. STUDY DESIGN: chart review. AIMS AND METHODS: Between June 1984 and June 1993, 220 cases of traumatic facial paralysis with good cochlear reserve were treated at the University of São Paulo by the following surgical approach: decompression of the tympanic and mastoid segments by the transmastoid approach and decompression of the geniculate ganglion and the distal 50% of the labyrinthine segment by the middle fossa approach. We present a review of the literature and a discussion and results of our management.

Há vários aspectos controversos no tratamento da paralisia facial traumática. Um destes é a natureza precisa da intervenção cirúrgica a ser usada, uma vez que a decisão de ser realizada tenha sido feita. FORMA DE ESTUDO: Clínico retrospectivo. OBJETIVOS E MÉTODOS: Entre o período de junho de 1984 e junho de 1993, 220 casos de paralisia facial traumática com boa função coclear foram tratados na Universidade de São Paulo pela seguinte técnica cirúrgica: descompressão dos segmentos mastóideo e timpânico através do acesso transmastoídeo e descompressão do gânglio geniculado e dos 50% distais do segmento labiríntico, usando-se o acesso pela fossa média. Apresentamos uma revisão de literatura e a discussão e resultados de nosso trabalho.Management of traumatic facial paralysis has several controversial aspects. One of these is the precise nature of surgical intervention to be used once the decision to operate has been made. STUDY DESIGN: chart review. AIMS AND METHODS: Between June 1984 and June 1993, 220 cases of traumatic facial paralysis with good cochlear reserve were treated at the University of São Paulo by the following surgical approach: decompression of the tympanic and mastoid segments by the transmastoid approach and decompression of the geniculate ganglion and the distal 50% of the labyrinthine segment by the middle fossa approach. We present a review of the literature and a discussion and results of our management.

Clinical rehabilitation of peripheral facial paralysis (PFP).To delineate the contributions of myofunctional exercises during the flaccid phase of the disorder, before any sequelae.147 promptuaries of patients with facial paralysis were analyzed and divided in two groups according to the period in which rehabilitation began. For the analysis of development, the classifications proposed by House and Brackmann (1985) and Ross et al. (1994) were used.According to the classification of House and Brackmann (1985), all of the individuals who had sequelae reached level III. However, it was observed that even in cases of severe nerve lesion, cases in which the sequelae were non-acceptable, patients who started treatment at an early stage, revealed a better functional result when evaluated according to the classification of Ross et al. (1994).The myofunctional approach demonstrated to be an effective method for the functional reestablishment in cases of facial paralysis.

Psammomatoid ossifying fibroma (POF) represents a unique subtype of fibro-osseous lesions. We describe a case of POF involving the orbit and the sinonasal tract, in a 13-year-old white female. Diagnosis depends on the histological, radiological and clinical features. Complete excision by endoscopic nasal surgery was the treatment of choice. Five years later the patient was free from symptoms and tumour recurrence. Differential diagnoses are discussed.

There are several controversial aspects to the management of traumatic facial paralysis. One of these involves the precise nature of surgical intervention once the decision to operate has been made. Between June 1, 1984, and June 30, 1993, we surgically treated 220 cases of traumatic facial paralysis with good cochlear reserve by decompressing the tympanic and mastoid segments via a transmastoid approach followed by decompression of the geniculate ganglion and the distal half of the labyrinthine segment via a middle fossa approach. We discuss the results of surgery via the middle fossa approach, and we review the literature.

O implante coclear pode promover meios para que a criança surda com traços autísticos possa construir relações comunicativas e emocionais e deste modo possibilitar melhor interação social e emocional. Objetivo: comparar a escala de avaliação de traços autístico (ATA), antes e após o implante coclear em crianças surdas com traços autísticos. Metodologia: Foram incluídas na amostra crianças acima de 3 anos, de ambos os sexos, com diagnóstico de perda auditiva neurossensorial bilateral de grau severo a profundo em período pré-lingual, com indicação de implante coclear e traços autísticos (23 pontos ou mais na escala ATA). A aplicação da escala foi realizada em dois momentos: no período antes da adaptação do implante coclear e após um ano de uso do implante coclear. O grupo controle foi formado por crianças com transtorno do espectro autista (TEA) cujos pais responderam a um questionário no momento inicial da pesquisa e um ano após. Outro grupo, foi composto por crianças surdas em avaliação no ambulatório de implante coclear, a aplicação da escala ATA foi em momento único. Os pacientes do grupo controle composto por crianças TEA e o grupo caso crianças surdas com traços autísticos, passaram por uma aplicação do teste não verbal de Inteligência SON-R 2½-7[a]. Os critérios de exclusão estabelecidos foram crianças com paralisia cerebral, doenças neurológicas, síndromes genéticas diagnosticadas ou em investigação. Resultados: Indivíduos com deficiência auditiva apresentam pontuação baixa, fora do corte para TEA. Deficientes auditivos com traços autísticos pontuam 37 antes e 34 após um ano de IC não apresentam significância estatística. Conclusão: Os achados na conclusão não demonstram diferença estatística na avaliação pré e pós implante coclear, porém houve mudanças nos aspectos: uso de forma efetiva do implante coclear;atenção, imitação ao outro, olhar como tentativa de estabelecer diálogo, melhor relacionamento com o outro não vinculado a um diálogo propriamente dito, mostraram a necessidade daquilo que se deseja e melhora interação familiar, foi algo observado em todos os indivíduos do estudo Cochlear implantation can promote ways for the deaf child with autistic traits to build communicative and emotional relationships and thus enable better social and emotional interaction. Objective: to compare the Autistic Trait Scale (ATA), before and after the cochlear implant in deaf children with autistic traits. Methodology: We included children 3 years old and above both sexes, with diagnosis of severe and profound bilateral sensorineural hearing loss in the pre-lingual period, with indication of cochlear implant and autistic traits (23 points or more in the ATA scale). The application of the scale was performed in two moments: before the adaptation of the cochlear implant and after one year of use of the cochlear implant. The control group was made up of children with autism spectrum disorder (ASD) whose parents answered a questionnaire at the initial time of the research and a year later. Another group, composed of deaf children under evaluation in the Cochlear Implant Outpatient Clinic, was submeted to the application of the ATA scale was in a single moment. The patients in the control group composed of ASD children and the group of deaf children with autistic traits underwent an application of the non-verbal test of SON-R 2½-7 [a] Intelligence. The established exclusion criteria were children with cerebral palsy, neurological diseases, genetic syndromes diagnosed or under investigation. Results: individuals with hearing impairment score low, out of court scores for ASD. Auditory defects with autistic traits score 37 before and 34 after one year of IC do not present statistical significance. Conclusion: The findings at the conclusion did not show statistical difference in the pre and post cochlear implant evaluation, but there were changes in the aspects: effective use of the cochlear implant; attention, imitation of the other, look as an to llouving attempt to establish dialogue, better relationship with the other not linked to a proper dialogue, showed the need for what is desired and improved family interaction