No description available.

L'implantation cochléaire permet aux enfants sourds profonds d'acquérir la parole et de développer leur compréhension du langage oral. Cependant, les équipes cliniques et les chercheurs soulignent l'existence de variabilités interindividuelles importantes dans les résultats obtenus après l'implantation, même lorsque celle-ci est précoce. L'objectif de notre travail a donc consisté à essayer de dégager des facteurs entrant enjeu dans le développement perceptif, communicatif et langagier des enfants implantés, en prenant en compte à la fois des variables endogènes et des variables exogènes. Pour ce faire, nous avons donc réalisé deux études monocentriques :1'une longitudinale chez 7 enfants âgés de 10 à 36 mois lors du bilan pré-implantation, rencontrés ensuite à 3, 6, 9 et 12 mois post-activation, l'autre transversale chez 26 enfants, âgés de 6 à 10 ans, porteurs d'un implant cochléaire depuis en moyenne 6 ans 2 mois. Plusieurs tests communément utilisés par les cliniciens et les chercheurs ont été proposés aux enfants et deux épreuves perceptives ont été spécifiquement créées pour cette étude. Nos deux études mettent en évidence que les résultats avec l'implant cochléaire chez l'enfant dépendent de caractéristiques présentes avant l'implantation (tels que l'âge, le niveau de développement pré-implantation, le type de communication...) et de facteurs cognitifs, communicatifs et perceptifs se développant après la mise en route de l'implant. Par ailleurs, nos résultats montrent, dans les deux études, que la participation familiale est un facteur crucial pour le bon développement langagier des enfants sourds porteurs d'un implant cochléaire. / Cochlear implantation allows profoundly deaf children to develop their production and their comprehension of oral language. However, clinicians and researchers highlight the existence of an important interindividual variability in post-implantation outcomes even in the case of early intervention. The aim of our work was then to bring out factors involved in the perception, communication, speech and language development of implanted children. Some endogenous variables (such as global development, verbal and non-verbal cognitive development, or age at implantation) and exogenous variables (such as environmental characteristics) were taken into account. Therefore, we performed two monocentric studies. The first, a longitudinal study, involved 7 children aged between 10 and 36 months at the pre-implantation assessment. They were evaluated every 3 months during the first year after implant activation. The second, a transversal study, involved 26 children aged between 6 and 10 years implanted since 6 years and 2 months on average. We proposed to the children several tests commonly used by clinicians and researchers and two perceptive tests designed for this present research. Both of our studies show evidence that cochlear implant outcomes depend on characteristics already present before implantation (such as age, pre-implantation development level, and communication type) and on cognition, communication and perception factors developed after the activation of the implant. Furthermore, our results show, in both studies, that family participation is a crucial factor for the strong linguistic development of profoundly deaf cochlear implanted children.

The work focuses on molecular genetic testing of patients with Usher syndrome to confirm the diagnosis, to determine the causal cause of the disease and describe new mutations causing Usher syndrome in Czech patients. Usher syndrome is a clinically and genetically heterogeneous disease that is the most common cause of hereditary deafblindness. Based on responsible genes and disease onset is classified into three clinical subtypes. Given the fact that there is currently no specific treatment, there is a need to understand the pathophysiology of this disease and to broaden the spectrum of causal mutations. The theoretical part of the thesis deals with the anatomy of the eye, especially the structure of the retina. Attention is also paid to retinal diseases, such as the progressive loss of vision characteristic for retinitis pigmentosa (RP). RP may occur either as an isolated disorder or also affecting other organs, so-called syndromic RP. Classic syndromic RP includes Usher's syndrome, which the work mainly deals with. The theoretical part of the thesis describes mainly the mechanism of the disease, the functions of individual Usher proteins and the genes that encode these proteins. The haplotype analysis has been previously done for the most common mutations causing Usher's syndrome in Europe Based...