Cochlear implant in postlingual children: functional results 10 years after the surgery

The benefits of cochlear implants (CI) for communication skills are obtained over the years. There are but a few studies regarding the long-term outcomes in postlingual deaf children who grew up using the electronic device. Aim: To assess the functional results in a group of postlingual children, 10 years after using a CI. Methods: Ten postlingual deaf children, implanted before 18 years of age, participated in this study. We assessed: sentence recognition and speech intelligibility. We documented: device use and function and the patient's academic/occupational status. Study design: series. Results: The mean scores were 73% for sentence recognition in silence and 40% in noise. The average write-down intelligibility score was 92% and the average rating-scale intelligibility score was 4.15. There were no cases of device failure. Regarding educational/vocational status, three subjects graduated from the University. Five quit education after completing high school. Eight subjects had a professional activity. Conclusion: This study showed that cochlear implantation is a safe and reliable procedure. The postlingual profoundly hearing-impaired children after 10 years of CI use developed satisfactory levels regarding speech perception and intelligibility, and completed at least high school and were inserted in the labor market. Clinical Trials Registry: NCT01400178.

Bioethics and medical/legal considerations on cochlear implants in children

Cochlear implants are the best treatment for congenital profound deafness. Pediatric candidates to implantation are seen as vulnerable citizens, and the decision of implanting cochlear devices is ultimately in the hands of their parents/guardians. The Brazilian Penal Code dictates that deaf people may enjoy diminished criminal capacity. Many are the bioethical controversies around cochlear implants, as representatives from the deaf community have seen in them a means of decimating their culture and intrinsic values. Objective: This paper aims to discuss, in bioethical terms, the validity of implanting cochlear hearing aids in children by analyzing their vulnerability and the social/cultural implications of the procedure itself, aside from looking into the medical/legal aspects connected to their criminal capacity. Materials and Methods: The topic was searched on databases Medline and Lilacs; ethical analysis was done based on principialist bioethics. Results: Cochlear implants are the best therapeutic option for people with profound deafness and are morally justified. The level of criminal capacity attributed to deaf people requires careful analysis of the subject's degree of understanding and determination when carrying out the acts for which he/she has been charged. Conclusion: Cochlear implants are morally valid. Implantations must be analyzed on an each case basis. ENT physicians bear the ethical responsibility for indicating cochlear implants and must properly inform the child's parents/guardians and get their written consent before performing the procedure.

Crianças com implante coclear: habilidades comunicativas e qualidade de vida

Dado o âmbito multidimensional do implante coclear, há crescente necessidade em avaliar não somente medidas clínicas de eficácia relacionadas às habilidades comunicativas, mas também aspectos mais genéricos envolvidos na efetividade do tratamento, como a qualidade de vida. OBJETIVOS: Tradução e adaptação de questionário internacional para o Português Brasileiro; análise das correlações entre fatores relacionados à qualidade de vida; análise das correlações entre qualidade de vida e medidas clínicas de resultado. MATERIAL E MÉTODO: Estudo prospectivo realizado com pais de crianças com implante coclear consistindo na aplicação de instrumentos validados para avaliar aspectos de qualidade de vida e habilidades comunicativas. RESULTADOS: A tradução e adaptação cultural do questionário foi satisfatoriamente realizada e este estudo proporciona a disponibilização do questionário em versão para o Português Brasileiro. Pelos dados obtidos, o implante coclear apresentou efeito positivo na qualidade de vida das crianças implantadas e de suas famílias. As correlações observadas para a variável comunicação demonstram uma relação direta entre comunicação oral e outras variáveis de qualidade de vida. CONCLUSÃO: Este estudo disponibiliza o questionário em versão para o Português Brasileiro. Para os pais de crianças brasileiras usuárias de implante coclear, a habilidade lexical (aquisição e uso das palavras) é a variável de maior impacto na qualidade de vida de seus filhos.

Influência de estímulos visuais na produção escrita de surdos sinalizadores com queixas de alterações na escrita

OBJETIVO: Verificar a influência de dois tipos de estímulos visuais na produção escrita de surdos sinalizadores com queixas de alterações na escrita. MÉTODOS: Participaram 13 estudantes surdos sinalizadores com queixas de alterações na escrita, sendo sete do gênero masculino e seis do feminino. A média de idade foi de 13 anos, e os sujeitos apresentavam perda auditiva neurossensorial de grau severo ou profundo (pior que 71 dBNA na média das frequências de 500 Hz, 1 e 2 kHz). A escolaridade dos participantes variou de 3ª à 8ª séries do Ensino Fundamental de escolas pública e particular. Os surdos foram avaliados quanto ao desempenho em LIBRAS e realizaram produções escritas com base em estímulos visuais de uma figura de ação e de figuras em sequência, as quais foram analisadas segundo critérios adaptados de acordo com a Teoria das Competências Comunicativas (Genérica, Enciclopédica e Línguística). Os dados foram analisados estatisticamente. RESULTADOS: Em relação à Competência Genérica, a tipologia do discurso predominante foi a Narração. Quanto às competências Enciclopédica e Linguística, ambas se mostraram prejudicadas independente dos estímulos apresentados. CONCLUSÃO: Os dois tipos de estímulos visuais estudados não propiciaram produções escritas diferenciadas nos surdos sinalizadores com queixas de alterações na escrita.

Influência do tipo de estímulo visual na produção escrita de surdos sinalizadores sem queixas de alterações na escrita

OBJETIVO: Analisar a influência do tipo de estímulo visual sobre a produção escrita de surdos sinalizadores sem queixas de alterações na escrita. MÉTODOS: Participaram 14 surdos, de ambos os gêneros, com idades entre 8 e 13 anos, usuários da Língua Brasileira de Sinais, alunos da terceira e quarta séries do Ensino Fundamental de uma escola especial para surdos. Foram avaliados por meio de produções escritas baseadas em dois tipos de estímulos: uma sequência de quatro figuras e uma figura de ação. Cada produção foi pontuada de acordo com critérios adaptados da teoria das Competências Comunicativas (Genérica, Enciclopédica, e Linguística). RESULTADOS: Na análise da Competência Genérica não houve diferença entre as produções a partir da sequencia ou da figura de ação. Entretanto, notou-se que a figura de ação propiciou mais produções de gênero narrativo, enquanto as figuras em sequência eliciaram mais descrições. Quanto às Competências Enciclopédica e Linguística, ambos os estímulos visuais proporcionaram resultados semelhantes nas produções escritas. Tanto na Competência Enciclopédica quanto na Linguística, o desempenho dos surdos foi aquém do esperado para a faixa de escolaridade, demonstrando conhecimento parcial sobre a língua portuguesa escrita. No entanto, observou-se que as figuras sequenciadas propiciaram organização de ideias e coesão global um pouco mais elaboradas. CONCLUSÃO: Nenhum dos tipos de estímulo visual, seja figura de ação ou sequência de figuras, propicia melhores desempenhos de produção escrita de surdos sinalizadores sem queixas de alterações na escrita para a maior parte dos aspectos analisados.

Interactive application in spanish sign language for a public transport environment

[ES] En este trabajo se presenta el diseño de una herramienta multimedia que traduce a la lengua de signos españolas los mensajes de avisos que puede proporcionar un sistema de megafonía. El objetivo del trabajo es proporcionar una herramienta que mejore la inclusión social de las personas con discapacidades auditivas. Con este propósito, se han seleccionado el entorno y los mensajes de audio habituales en un aeropuerto para desarrollar este proyecto piloto. Por último, los audios se han traducido a lengua de signos españolas sintetizando un avatar usando la técnica de animación de rotoscopía a partir de la grabación en vídeo de un traductor. Los resultados finales han sido evaluados por personas sordas.

Prototipo funcional de aplicación móvil para la mejora de la accesibilidad de contenidos audiovisuales para personas sordas o ciegas

Máster Universitario en Sistemas Inteligentes y Aplicaciones Numéricas en Ingeniería (SIANI)

Rich media content adaptation in e-learning systems

The wide use of e-technologies represents a great opportunity for underserved segments of the population, especially with the aim of reintegrating excluded individuals back into society through education. This is particularly true for people with different types of disabilities who may have difficulties while attending traditional on-site learning programs that are typically based on printed learning resources. The creation and provision of accessible e-learning contents may therefore become a key factor in enabling people with different access needs to enjoy quality learning experiences and services. Another e-learning challenge is represented by m-learning (which stands for mobile learning), which is emerging as a consequence of mobile terminals diffusion and provides the opportunity to browse didactical materials everywhere, outside places that are traditionally devoted to education. Both such situations share the need to access materials in limited conditions and collide with the growing use of rich media in didactical contents, which are designed to be enjoyed without any restriction. Nowadays, Web-based teaching makes great use of multimedia technologies, ranging from Flash animations to prerecorded video-lectures. Rich media in e-learning can offer significant potential in enhancing the learning environment, through helping to increase access to education, enhance the learning experience and support multiple learning styles. Moreover, they can often be used to improve the structure of Web-based courses. These highly variegated and structured contents may significantly improve the quality and the effectiveness of educational activities for learners. For example, rich media contents allow us to describe complex concepts and process flows. Audio and video elements may be utilized to add a “human touch” to distance-learning courses. Finally, real lectures may be recorded and distributed to integrate or enrich on line materials. A confirmation of the advantages of these approaches can be seen in the exponential growth of video-lecture availability on the net, due to the ease of recording and delivering activities which take place in a traditional classroom. Furthermore, the wide use of assistive technologies for learners with disabilities injects new life into e-learning systems. E-learning allows distance and flexible educational activities, thus helping disabled learners to access resources which would otherwise present significant barriers for them. For instance, students with visual impairments have difficulties in reading traditional visual materials, deaf learners have trouble in following traditional (spoken) lectures, people with motion disabilities have problems in attending on-site programs. As already mentioned, the use of wireless technologies and pervasive computing may really enhance the educational learner experience by offering mobile e-learning services that can be accessed by handheld devices. This new paradigm of educational content distribution maximizes the benefits for learners since it enables users to overcome constraints imposed by the surrounding environment. While certainly helpful for users without disabilities, we believe that the use of newmobile technologies may also become a fundamental tool for impaired learners, since it frees them from sitting in front of a PC. In this way, educational activities can be enjoyed by all the users, without hindrance, thus increasing the social inclusion of non-typical learners. While the provision of fully accessible and portable video-lectures may be extremely useful for students, it is widely recognized that structuring and managing rich media contents for mobile learning services are complex and expensive tasks. Indeed, major difficulties originate from the basic need to provide a textual equivalent for each media resource composing a rich media Learning Object (LO). Moreover, tests need to be carried out to establish whether a given LO is fully accessible to all kinds of learners. Unfortunately, both these tasks are truly time-consuming processes, depending on the type of contents the teacher is writing and on the authoring tool he/she is using. Due to these difficulties, online LOs are often distributed as partially accessible or totally inaccessible content. Bearing this in mind, this thesis aims to discuss the key issues of a system we have developed to deliver accessible, customized or nomadic learning experiences to learners with different access needs and skills. To reduce the risk of excluding users with particular access capabilities, our system exploits Learning Objects (LOs) which are dynamically adapted and transcoded based on the specific needs of non-typical users and on the barriers that they can encounter in the environment. The basic idea is to dynamically adapt contents, by selecting them from a set of media resources packaged in SCORM-compliant LOs and stored in a self-adapting format. The system schedules and orchestrates a set of transcoding processes based on specific learner needs, so as to produce a customized LO that can be fully enjoyed by any (impaired or mobile) student.

SANS (USH1G) in USH-Proteinnetzwerken von Photorezeptorzellen der Vertebratenretina

Das Usher Syndrom (USH) führt beim Menschen zur häufigsten Form erblicher Taub-Blindheit und wird aufgrund klinischer Merkmale in drei Typen unterteilt (USH1-3). Das Ziel dieser Arbeit war die Analyse der Expression und subzellulären Lokalisation des USH1G-Proteins SANS („Scaffold protein containing Ankyrin repeats and SAM domain“) in der Retina. Ein weiterer Fokus lag auf der Identifikation neuer Interaktionspartner zur funktionellen Charakterisierung von SANS. Im Rahmen der vorliegenden Arbeit konnte ein USH-Proteinnetzwerk identifiziert werden, das im Verbindungscilium und benachbarter Struktur, dem apikalen Innensegment von Photorezeptorzellen lokalisiert ist. Als Netzwerkkomponenten konnten die USH-Proteine SANS, USH2A Isoform b (USH2A), VLGR1b („Very Large G-protein coupled Receptor 1b“, USH2C) sowie Whirlin (USH2D) ermittelt werden. Innerhalb dieses Netzwerkes interagieren die Gerüstproteine SANS und Whirlin direkt miteinander. Die Transmembranproteine USH2A Isoform b und VLGR1b sind durch die direkte Interaktion mit Whirlin in ciliären-periciliären Membranen verankert und projizieren mit ihren langen Ektodomänen in den extrazellulären Spalt zwischen Verbindungscilium und apikalem Innensegment. Darüber hinaus konnte die Partizipation von SANS an Mikrotubuli-assoziiertem Vesikeltransport durch Identifikation neuer Interaktionspartner, wie dem MAGUK-Protein MAGI-2 („Membrane-Associated Guanylate Kinase Inverted-2“) sowie Dynaktin-1 (p150Glued) eruiert werden. Die Funktion des ciliären-periciliären USH-Proteinnetzwerkes könnte demnach in der Aufrechterhaltung benachbarter Membranstrukturen sowie der Beteiligung der Positionierung und Fusion von Transportvesikeln liegen.

Die regulatorische Funktion des Usher-Syndrom-Proteins SANS in Proteinnetzwerken

Die vorliegende kumulative Arbeit umfasst Analysen zur Aufklärung der molekularen Grundlagen des humanen Usher-Syndroms (USH), der häufigsten Ursache kombinierter vererblicher Taub-Blindheit. Ziel dieser Arbeit war es, neue Erkenntnisse zur Funktion der USH-Proteine und den von ihnen organisierten Protein-Netzwerken in der Photorezeptorzelle zu erhalten. Dadurch sollten weitere Einsichten in die molekularen Ursachen des retinalen Phänotyps von USH gewonnen werden. Die Ergebnisse dieser Analysen wurden in einem Übersichtsartikel (I) und zwei Originalarbeiten (II, III) zusammengestellt.rn Im Übersichtsartikel (I) wurden die vorliegenden Hinweise zusammengefasst, die USH auf Grundlage der molekularen Verbindungen ebenfalls als Ciliopathien definiert. Zudem wird die Bedeutung des periciliären USH-Proteinnetzwerkes für das sensorische Cilium (Außensegment) der Photorezeptorzelle herausgestellt. rn In Publikation II wurde der Aufbau des USH1-USH2-Proteinnetzwerkes als Teil des periciliären Komplexes analysiert, der beim cargo handover von vesikulärer Fracht vom Innensegment- auf den ciliären Transport für die Photorezeptorzelle essentiell ist. Experimentell wurde Ush2a als neuer SANS-Interaktionspartner validiert. Des Weiteren wurde ein ternärer Komplex aus den USH-Proteinen SANS, Ush2a und Whirlin identifiziert, dessen Zusammensetzung durch die phosphorylierungsabhängige Interaktion zwischen SANS und Ush2a reguliert werden könnte. Dieser ternäre Komplex kann sowohl der Integrität der Zielmembran dienen als auch am Transfer von Molekülen ins Außensegment beteiligt sein.rn In Publikation III wurde das MAGUK-Protein Magi2 als neuer Interaktionspartner von SANS identifiziert und die Interaktion durch komplementäre Interaktionsassays validiert. Dabei wurde ein internes PDZ-Binde-Motiv in der SAM-Domäne von SANS identifiziert, das die Interaktion zur PDZ5-Domäne von Magi2 phosphorylierungsabhängig vermittelt. Dadurch wurde bestätigt, dass SANS durch post-translationale Modifizierung reguliert wird. Weiterführende Experimente zur Funktion des Magi2-SANS-Komplexes zeigen, dass Magi2 an Prozess der Rezeptor-vermittelten Endocytose beteiligt ist. Die Phosphorylierung von SANS durch die Kinase CK2 spielt bei der Endocytose ebenfalls eine wichtige Rolle. Der Phosphorylierungsstatus von SANS moduliert die Interaktion zu Magi2 und reguliert dadurch negativ den Prozess der Endocytose. In RNAi-Studien wurde die durch Magi2-vermittelte Endocytose darüber hinaus mit dem Prozess der Ciliogenese verknüpft. Die Analyse der subzellulären Verteilung der Interaktionspartner lokalisieren Magi2 im periciliären Komplex und assoziieren das periciliäre USH-Proteinnetzwerk dadurch mit dem Prozess der Endocytose in der ciliary pocket. Der SANS-Magi2-Komplex sollte demnach für Aufbau und Funktion des sensorischen Ciliums der Photorezeptorzelle eine wichtige Rolle spielen.rn Die Gesamtheit an Informationen, die aus den Publikationen dieser Dissertation und aus den Kooperationsprojekten (*) resultieren, haben die Kenntnisse zur zellulären Funktion der USH-Proteine und ihrer Interaktionspartner und damit über die pathogenen Mechanismen von USH erweitert. Dies bildet die Basis, um fundierte Therapiestrategien zu entwickeln.

Analysen zur molekularen Charakterisierung von Proteinen des humanen Usher-Syndroms und Evaluation genbasierter Therapiestrategien

Analysen zur molekularen Charakterisierung von Proteinen des humanen Usher-Syndroms und Evaluation genbasierter Therapiestrategien rnDas humane Usher Syndrom (USH) ist die häufigste Form vererbter Taub-Blindheit. In der vorliegenden Dissertation wurde diese komplexe Erkrankung auf verschiedenen Ebenen analysiert: in Arbeiten zur Expression und Lokalisation von USH-Proteinen, der Analyse der USH-Proteinnetzwerke und deren Funktionen sowie darauf aufbauend die Entwicklung von Therapiestrategien für USH.rnIm Rahmen der Arbeit wurde die Expression und (sub)-zelluläre Lokalisation des USH1D-Genproduktes CDH23 in der Retina und Cochlea analysiert. CDH23-Isoformen werden in der Maus zeitlich und räumlich differentiell exprimiert. In den Retinae von Mäusen, nicht humanen Primaten und Menschen zeigten Analysen eine unterschiedliche Expression und Lokalisation des Zell-Zelladhäsionsmoleküls CDH23, was auf Funktions-unterschiede der einzelnen Isoformen in den analysierten Spezies hindeutet.rnAnalysen zur Aufklärung der USH-Proteinnetzwerke ergaben eine potentielle Interaktion des USH1G-Gerüstproteins SANS mit dem Golgi- und Centrosom-assoziierten Protein Myomegalin. Die direkte Interaktion der Proteine konnte durch unabhängige Experimente verifiziert werden. Beide Interaktionspartner sind in den Retinae verschiedener Spezies partiell ko-lokalisiert und partizipieren im periciliären USH-Proteinnetzwerk. Die Assoziation von SANS und Myomegalin mit dem Mikrotubuli-Cytoskelett weist auf eine Funktion des Proteinkomplexes in gerichteten Transportprozessen innerhalb der Photorezeptoren hin und bekräftigt die Hypothese einer Rolle von SANS und assoziierten Netzwerken mit Transportprozessen.rnDas hier gewonnene erweiterte Verständnis der molekularen Grundlagen sowie die Aufklärung der zellulären Funktion der Proteinnetzwerke ermöglichen die Entwicklung therapeutischer Strategien für USH. Ein Fokus der vorliegenden Arbeit lag auf der Entwicklung genbasierter Therapiestrategien und deren Evaluation, wobei der Schwerpunkt auf der Therapiestrategie der Genreparatur lag. Die mit Hilfe von Zinkfinger-Nukleasen (ZFN) induzierte Homologe Rekombination für die Genkorrektur wurde exemplarisch an der 91C>T/p.R31X-Mutation im USH1C-Gen gezeigt. Effiziente ZFN wurden identifiziert, generiert und erfolgreich im Zellkulturmodellsystem eingesetzt. Die Analysen demonstrierten eine Reparatur der Mutation durch Homologe Rekombination auf genomischer Ebene und die Expression des wiederhergestellten Proteins. Durch die Genkorrektur im endogenen Lokus sind Größe des Gens, Isoformen oder die Art der Mutation keine limitierenden Faktoren für die Therapie. Die in der vorliegenden Arbeit durchgeführten Experimente unterstreichen das enorme Potential ZFN-basierter Therapiestrategien hin zu personalisierten Therapieformen nicht nur für USH sondern auch für andere erbliche Erkrankungen, deren genetische Grundlagen bekannt sind.rn

Morphofunctional adaptations of the olfactory mucosa in postnatally developing rabbits

Rabbits are born blind and deaf and receive unusually limited maternal care. Consequently, their suckling young heavily rely on the olfactory cue for nipple attachment. However, the postnatal morphofunctional adaptations of olfactory mucosa (OM) are not fully elucidated. To clarify on the extent and the pattern of refinement of the OM following birth in the rabbit, morphologic and morphometric analysis of the mucosa were done at neonatal (0-1 days), suckling (2 weeks), weanling (4 weeks), and adult (6-8 months) stages of postnatal development. In all the age groups, the basic components of the OM were present. However, proliferative activity of cells of the mucosal epithelium decreased with increasing age as revealed by Ki-67 immunostaining. Diameters of axon bundles, packing densities of olfactory cells, and cilia numbers per olfactory cell knob increased progressively with age being 5.5, 2.1, and 2.6 times, respectively, in the adult as compared with the neonate. Volume fraction values for the bundles increased by 5.3% from birth to suckling age and by 7.4% from weaning to adulthood and the bundle cores were infiltrated with blood capillaries in all ages except in the adult where such vessels were lacking. The pattern of cilia projection from olfactory cell knobs also showed age-related variations, that is, arose as a tuft from the tips of the knobs in neonates and sucklings and in a radial pattern from the knob bases in weanlings and adults. These morphological changes may be attributed to the high olfactory functional demand associated with postnatal development in the rabbit.

Does a pleiotropic gene explain deafness and blue irises in white cats?

The prevalence of deafness is high in cat populations in which the dominant white gene is segregating. The objective of this study was to investigate whether there is a gene that is responsible for deafness as well as for blue eyes and to establish a plausible mode of inheritance. For this purpose, data from an experimental colony with deaf cats were analyzed. The hearing status was determined by acoustically evoked brain stem responses (BAER). Complex segregation analyses were conducted to find out the most probable mode of inheritance using maximum likelihood procedures. The prevalence of deafness and partial hearing in the experimental colony was 67% and 29%, respectively. The results of the bivariate segregation analysis support the hypothesis of a pleiotropic major gene segregating for deafness and blue iris colour. The high heritability coefficients for both traits, 0.55 and 0.75 respectively, indicate that beside the major gene there is an important influence of polygenic effects.

Panel 4: Transnational Memory of Mass Violence

Panel 4: Transnational Memory of Mass Violence Anne Waehrens, University of Copenhagen/Danish Institute for International Studies, Denmark: “Is There a Shared European memory? Holocaust Remembrance in the European Parliament after 1989" Download paper (login required) Ran Zwigenberg, City University of New York: “The Hiroshima-Auschwitz Peace March and the Globalization of Victimhood” Download paper (login required) Mark Zaurov, University of Hamburg, Germany: "The Current Situation of Human Rights for Deaf People with Respect to the Deaf Holocaust" Download paper (login required) Chair: Natalya Lazar and Jody Manning, Clark UniversityComment: Ken McLean, Clark University

Cochlear implantation in children and adults in Switzerland

The cochlear implant (CI) is one of the most successful neural prostheses developed to date. It offers artificial hearing to individuals with profound sensorineural hearing loss and with insufficient benefit from conventional hearing aids. The first implants available some 30 years ago provided a limited sensation of sound. The benefit for users of these early systems was mostly a facilitation of lip-reading based communication rather than an understanding of speech. Considerable progress has been made since then. Modern, multichannel implant systems feature complex speech processing strategies, high stimulation rates and multiple sites of stimulation in the cochlea. Equipped with such a state-of-the-art system, the majority of recipients today can communicate orally without visual cues and can even use the telephone. The impact of CIs on deaf individuals and on the deaf community has thus been exceptional. To date, more than 300,000 patients worldwide have received CIs. In Switzerland, the first implantation was performed in 1977 and, as of 2012, over 2,000 systems have been implanted with a current rate of around 150 CIs per year. The primary purpose of this article is to provide a contemporary overview of cochlear implantation, emphasising the situation in Switzerland.