Final Syllable Lengthening (FSL) in Infant Vocalizations

Final Syllable Lengthening (FSL) has been extensively examined in infant vocalizations in order to determine whether its basis is biological or learned. Findings suggest there may be a U-shaped developmental trajectory for FSL. The present study sought to verify this pattern and to determine whether vocal maturity and deafness influence FSL. Eight normally hearing infants, aged 0 ; 3 to 1 ; 0, and eight deaf infants, aged 0 ; 8 to 4 ; 0, were examined at three levels of prelinguistic vocal development: precanonical, canonical, and postcanonical. FSL was found at all three levels suggesting a biological basis for this phenomenon. Individual variability was, however, considerable. Reduction in the magnitude of FSL across the three sessions provided some support for a downward trend for FSL in infancy. Findings further indicated that auditory deprivation can significantly affect temporal aspects of infant speech production.

PERCEPÇÃO DE AUTO-ESTIMA E QUALIDADE DE VIDA DO JOVEM-ADULTO SURDO UNIVERSITÁRIO

O presente trabalho tem como tema central a opinião do surdo universitário sobre sua auto- estima e qualidade vida. Os objetivos foram conhecer o joven-adulto surdo universitário, segundo sua opinião, buscando especificamente identificar os fatores que contribuíram para o seu desenvolvimento psicológico e sua auto-estima; e identificar as características da qualidade de vida, considerando os aspectos físico, psicológico, relações sociais e meio ambiente. Participaram desta pesquisa 3 jovens-adultos surdos, universitários. O método utilizado foi o descritivo qualitativo, usando-se como fonte de coleta de dados a entrevista livre e o WHOQOL-bref. O método qualitativo na área da saúde visa investigar o significado que os fenômenos sentimentos, idéias, vivências, manifestações, dentre outros, tem para as pessoas e que dão molde às suas vidas incluindo os cuidados com a saúde. Percebemos que ao atingirem a fase adulta, os sujeitos pesquisados conseguem tomar decisões e escolher seus caminhos com maior liberdade em função das experiências e condições que lhes foram apresentadas. Verificamos que as situações vividas no ambiente escolar e o aprendizado da língua de sinais contribuíram para sua constituição como sujeito não limitado à condição da surdez. Foi possível identificar que possuem expectativas profissionais futuras e expressaram suas dificuldades, desejos, frustrações diante do mercado de trabalho, relações sociais e familiares como qualquer outro individuo, encontrando recursos internos para o enfrentamento das circunstâncias cotidianas. Os resultados da pesquisa também permitiram observar que os surdos reconhecem o grau de satisfação que têm com a vida, seu estado de saúde e cuidados com seu bem-estar físico, psicológico e social. Concluímos que ao recontar sua história de vida os surdos têm a possibilidade de se reconhecer como sujeitos e a oportunidade de dar continuidade às próprias vivências que contribuíram para seu bem-estar

PERCEPÇÃO DE AUTO-ESTIMA E QUALIDADE DE VIDA DO JOVEM-ADULTO SURDO UNIVERSITÁRIO

O presente trabalho tem como tema central a opinião do surdo universitário sobre sua auto- estima e qualidade vida. Os objetivos foram conhecer o joven-adulto surdo universitário, segundo sua opinião, buscando especificamente identificar os fatores que contribuíram para o seu desenvolvimento psicológico e sua auto-estima; e identificar as características da qualidade de vida, considerando os aspectos físico, psicológico, relações sociais e meio ambiente. Participaram desta pesquisa 3 jovens-adultos surdos, universitários. O método utilizado foi o descritivo qualitativo, usando-se como fonte de coleta de dados a entrevista livre e o WHOQOL-bref. O método qualitativo na área da saúde visa investigar o significado que os fenômenos sentimentos, idéias, vivências, manifestações, dentre outros, tem para as pessoas e que dão molde às suas vidas incluindo os cuidados com a saúde. Percebemos que ao atingirem a fase adulta, os sujeitos pesquisados conseguem tomar decisões e escolher seus caminhos com maior liberdade em função das experiências e condições que lhes foram apresentadas. Verificamos que as situações vividas no ambiente escolar e o aprendizado da língua de sinais contribuíram para sua constituição como sujeito não limitado à condição da surdez. Foi possível identificar que possuem expectativas profissionais futuras e expressaram suas dificuldades, desejos, frustrações diante do mercado de trabalho, relações sociais e familiares como qualquer outro individuo, encontrando recursos internos para o enfrentamento das circunstâncias cotidianas. Os resultados da pesquisa também permitiram observar que os surdos reconhecem o grau de satisfação que têm com a vida, seu estado de saúde e cuidados com seu bem-estar físico, psicológico e social. Concluímos que ao recontar sua história de vida os surdos têm a possibilidade de se reconhecer como sujeitos e a oportunidade de dar continuidade às próprias vivências que contribuíram para seu bem-estar

Thyroid hormone receptor β-dependent expression of a potassium conductance in inner hair cells at the onset of hearing

To elucidate the role of thyroid hormone receptors (TRs) α1 and β in the development of hearing, cochlear functions have been investigated in mice lacking TRα1 or TRβ. TRs are ligand-dependent transcription factors expressed in the developing organ of Corti, and loss of TRβ is known to impair hearing in mice and in humans. Here, TRα1-deficient (TRα1−/−) mice are shown to display a normal auditory-evoked brainstem response, indicating that only TRβ, and not TRα1, is essential for hearing. Because cochlear morphology was normal in TRβ−/− mice, we postulated that TRβ regulates functional rather than morphological development of the cochlea. At the onset of hearing, inner hair cells (IHCs) in wild-type mice express a fast-activating potassium conductance, IK,f, that transforms the immature IHC from a regenerative, spiking pacemaker to a high-frequency signal transmitter. Expression of IK,f was significantly retarded in TRβ−/− mice, whereas the development of the endocochlear potential and other cochlear functions, including mechanoelectrical transduction in hair cells, progressed normally. TRα1−/− mice expressed IK,f normally, in accord with their normal auditory-evoked brainstem response. These results establish that the physiological differentiation of IHCs depends on a TRβ-mediated pathway. When defective, this may contribute to deafness in congenital thyroid diseases.

Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange– Nielsen Syndrome

KCNQ1 encodes KCNQ1, which belongs to a family of voltage-dependent K+ ion channel proteins. KCNQ1 associates with a regulatory subunit, KCNE1, to produce the cardiac repolarizing current, IKs. Loss-of-function mutations in the human KCNQ1 gene have been linked to Jervell and Lange–Nielsen Syndrome (JLNS), a disorder characterized by profound bilateral deafness and a cardiac phenotype. To generate a mouse model for JLNS, we created a line of transgenic mice that have a targeted disruption in the Kcnq1 gene. Behavioral analysis revealed that the Kcnq1−/− mice are deaf and exhibit a shaker/waltzer phenotype. Histological analysis of the inner ear structures of Kcnq1−/− mice revealed gross morphological anomalies because of the drastic reduction in the volume of endolymph. ECGs recorded from Kcnq1−/− mice demonstrated abnormal T- and P-wave morphologies and prolongation of the QT and JT intervals when measured in vivo, but not in isolated hearts. These changes are indicative of cardiac repolarization defects that appear to be induced by extracardiac signals. Together, these data suggest that Kcnq1−/− mice are a potentially valuable animal model of JLNS.

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

Pendrin is an anion transporter encoded by the PDS/Pds gene. In humans, mutations in PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and goiter. Previous studies have shown that this gene has a relatively restricted pattern of expression, with PDS/Pds mRNA detected only in the thyroid, inner ear, and kidney. The present study examined the distribution and function of pendrin in the mammalian kidney. Immunolocalization studies were performed using anti-pendrin polyclonal and monoclonal antibodies. Labeling was detected on the apical surface of a subpopulation of cells within the cortical collecting ducts (CCDs) that also express the H+-ATPase but not aquaporin-2, indicating that pendrin is present in intercalated cells of the CCD. Furthermore, pendrin was detected exclusively within the subpopulation of intercalated cells that express the H+-ATPase but not the anion exchanger 1 (AE1) and that are thought to mediate bicarbonate secretion. The same distribution of pendrin was observed in mouse, rat, and human kidney. However, pendrin was not detected in kidneys from a Pds-knockout mouse. Perfused CCD tubules isolated from alkali-loaded wild-type mice secreted bicarbonate, whereas tubules from alkali-loaded Pds-knockout mice failed to secrete bicarbonate. Together, these studies indicate that pendrin is an apical anion transporter in intercalated cells of CCDs and has an essential role in renal bicarbonate secretion.

A Millennial Myosin Census

The past decade has seen a remarkable explosion in our knowledge of the size and diversity of the myosin superfamily. Since these actin-based motors are candidates to provide the molecular basis for many cellular movements, it is essential that motility researchers be aware of the complete set of myosins in a given organism. The availability of cDNA and/or draft genomic sequences from humans, Drosophila melanogaster, Caenorhabditis elegans, Arabidopsis thaliana, Saccharomyces cerevisiae, Schizosaccharomyces pombe, and Dictyostelium discoideum has allowed us to tentatively define and compare the sets of myosin genes in these organisms. This analysis has also led to the identification of several putative myosin genes that may be of general interest. In humans, for example, we find a total of 40 known or predicted myosin genes including two new myosins-I, three new class II (conventional) myosins, a second member of the class III/ninaC myosins, a gene similar to the class XV deafness myosin, and a novel myosin sharing at most 33% identity with other members of the superfamily. These myosins are in addition to the recently discovered class XVI myosin with N-terminal ankyrin repeats and two human genes with similarity to the class XVIII PDZ-myosin from mouse. We briefly describe these newly recognized myosins and extend our previous phylogenetic analysis of the myosin superfamily to include a comparison of the complete or nearly complete inventories of myosin genes from several experimentally important organisms.

Cerebral organization for language in deaf and hearing subjects: Biological constraints and effects of experience

Cerebral organization during sentence processing in English and in American Sign Language (ASL) was characterized by employing functional magnetic resonance imaging (fMRI) at 4 T. Effects of deafness, age of language acquisition, and bilingualism were assessed by comparing results from (i) normally hearing, monolingual, native speakers of English, (ii) congenitally, genetically deaf, native signers of ASL who learned English late and through the visual modality, and (iii) normally hearing bilinguals who were native signers of ASL and speakers of English. All groups, hearing and deaf, processing their native language, English or ASL, displayed strong and repeated activation within classical language areas of the left hemisphere. Deaf subjects reading English did not display activation in these regions. These results suggest that the early acquisition of a natural language is important in the expression of the strong bias for these areas to mediate language, independently of the form of the language. In addition, native signers, hearing and deaf, displayed extensive activation of homologous areas within the right hemisphere, indicating that the specific processing requirements of the language also in part determine the organization of the language systems of the brain.

Ion channel genes and human neurological disease: Recent progress, prospects, and challenges

What do epilepsy, migraine headache, deafness, episodic ataxia, periodic paralysis, malignant hyperthermia, and generalized myotonia have in common? These human neurological disorders can be caused by mutations in genes for ion channels. Many of the channel diseases are “paroxysmal disorders” whose principal symptoms occur intermittently in individuals who otherwise may be healthy and active. Some of the ion channels that cause human neurological disease are old acquaintances previously cloned and extensively studied by channel specialists. In other cases, however, disease-gene hunts have led the way to the identification of new channel genes. Progress in the study of ion channels has made it possible to analyze the effects of human neurological disease-causing channel mutations at the level of the single channel, the subcellular domain, the neuronal network, and the behaving organism.

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. The reconstituted cDNA sequence presented here predicts a 2215 amino acid protein with a typical unconventional myosin structure. This protein is expected to dimerize into a two-headed molecule. The C terminus of its tail shares homology with the membrane-binding domain of the band 4.1 protein superfamily. The gene consists of 48 coding exons. It encodes several alternatively spliced forms. In situ hybridization analysis in human embryos demonstrates that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating that both cell types may be involved in the USH1B retinal degenerative process. In addition, the gene is expressed in the human embryonic cochlear and vestibular neuroepithelia. We suggest that deafness and vestibular dysfunction in USH1B patients result from a defect in the morphogenesis of the inner ear sensory cell stereocilia.

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

Myosin VIIa is a newly identified member of the myosin superfamily of actin-based motors. Recently, the myosin VIIa gene was identified as the gene defective in shaker-1, a recessive deafness in mice [Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K.A., Antonio, M., Beisel, K.W., Steel, K.P. & Brown, S.D.M. (1995) Nature (London) 374, 62-64], and in human Usher syndrome type 1B, an inherited disease characterized by congenital deafness, vestibular dysfunction, and retinitis pigmentosa [Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M.D., Kelley, P.M., Kimberling, W.J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K.P., Brown, S.D.M. & Petit, C. (1995) Nature (London) 374, 60-61]. To understand the normal function of myosin VIIa and how it could cause these disease phenotypes when defective, we generated antibodies specific to the tail portion of this unconventional myosin. We found that myosin VIIa was expressed in cochlea, retina, testis, lung, and kidney. In cochlea, myosin VIIa expression was restricted to the inner and outer hair cells, where it was found in the apical stereocilia as well as the cytoplasm. In the eye, myosin VIIa was expressed by the retinal pigmented epithelial cells, where it was enriched within the apical actin-rich domain of this cell type. The cell-specific localization of myosin VIIa suggests that the blindness and deafness associated with Usher syndrome is due to lack of proper myosin VIIa function within the cochlear hair cells and the retinal pigmented epithelial cells.

Age-related functional and structural retinal modifications in the Igf1−/− null mouse

Background. Mutations in the gene encoding human insulin-like growth factor-I (IGF-I) cause syndromic neurosensorial deafness. To understand the precise role of IGF-I in retinal physiology, we have studied the morphology and electrophysiology of the retina of the Igf1−/− mice in comparison with that of the Igf1+/− and Igf1+/+ animals during aging. Methods. Serological concentrations of IGF-I, glycemia and body weight were determined in Igf1+/+, Igf1+/− and Igf1−/− mice at different times up to 360 days of age. We have analyzed hearing by recording the auditory brainstem responses (ABR), the retinal function by electroretinographic (ERG) responses and the retinal morphology by immunohistochemical labeling on retinal preparations at different ages. Results. IGF-I levels are gradually reduced with aging in the mouse. Deaf Igf1−/− mice had an almost flat scotopic ERG response and a photopic ERG response of very small amplitude at postnatal age 360 days (P360). At the same age, Igf1+/− mice still showed both scotopic and photopic ERG responses, but a significant decrease in the ERG wave amplitudes was observed when compared with those of Igf1+/+ mice. Immunohistochemical analysis showed that P360 Igf1−/− mice suffered important structural modifications in the first synapse of the retinal pathway, that affected mainly the postsynaptic processes from horizontal and bipolar cells. A decrease in bassoon and synaptophysin staining in both rod and cone synaptic terminals suggested a reduced photoreceptor output to the inner retina. Retinal morphology of the P360 Igf1+/− mice showed only small alterations in the horizontal and bipolar cell processes, when compared with Igf1+/+ mice of matched age. Conclusions. In the mouse, IGF-I deficit causes an age-related visual loss, besides a congenital deafness. The present results support the use of the Igf1−/− mouse as a new model for the study of human syndromic deaf-blindness.

Educación bilingüe del alumnado sordo: pilares para un cambio estratégico

Pese a los progresos logrados en la protección de los derechos fundamentales de salud y educación de las personas sordas usuarias de las lenguas de signos, a menudo se sigue negando a niños sordos su derecho a aprender y usar las lenguas de signos en su educación y en entornos físicos y psicosociales accesibles de conformidad con la Convención de los Derechos de las Personas con Discapacidad (CDPD) y con las recientes leyes 27/2007 y 17/2007. El objetivo principal de este estudio fue obtener información sobre los factores estratégicos que favorecen una escuela saludable e inclusiva, mediante programas de educación bilingüe sostenibles y de calidad para escolares sordos en España. La metodología utilizada consistió en un estudio descriptivo con componentes de investigación-acción participativa y un enfoque de análisis estratégico. Como resultados, cabe destacar que las principales macrotendencias que, en el ámbito internacional, han promovido el cambio hacia prácticas bilingües son dos: en primer lugar, los cambios sociales y políticos que tienden a una creciente aceptación de la diversidad y los temas relacionados con las personas sordas; y en segundo lugar, una tendencia a un activismo, una autoconciencia y un apoderamiento crecientes por parte de las personas sordas. Como contrapartida, las que lo han obstaculizado son, por un lado, la visión de la sordera como una condición médica, que puede solucionarse mediante la tecnología; y por otro lado, el fonocentrismo, unido a una cierta resistencia social a lo desconocido. Aunque en España algunas de las escuelas que han iniciado el cambio cumplen las recomendaciones de la CDPD, la mayoría están todavía en una fase preliminar de formulación o puesta en práctica de este nuevo modelo y distan mucho de encontrarse distribuidas de manera igualitaria en las diferentes comunidades autónomas. Como conclusión podemos decir que conseguir una educación más saludable e inclusiva para los escolares sordos implica poner en marcha una estrategia de actuación planificada en la que participen activamente todos los sectores y organismos relevantes implicados y, en particular, las comunidades sordas a través de las organizaciones que las representan. Sin un cambio radical de perspectiva, la salud y la educación no serán accesibles a todos y las desigualdades sociales se verán acentuadas.

Benefício audiológico na colocação de um implante coclear : a propósito de um caso clínico

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Surdez genética na idade pediátrica : O papel da genética na abordagem à doença

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014