Search for dissertations about: "Usher syndrome"

Found 5 swedish dissertations containing the words Usher syndrome.

  1. 1. Usher syndrome. Prevalence and phenotype - genotype correlations

    Author : Mehdi Sadeghi; Göteborgs universitet.; Gothenburg University.; [2005]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; deafblindness; Usher syndrome; retinitis pigmentosa; prevalence; Usher type I; Usher type II; Usher type III; vestibular deficiency; hereditary hearing loss;

    Abstract : Aims: the main purpose of this thesis was to estimate the prevalence of Usher syndrome type I, II and III in Sweden (study I) and to determine the clinical differences between Usher syndrome subtypes (studies II-IV). The hypothesis to be tested was that different genes for Usher syndrome will produce different phenotypes even when they belong to the same clinical type (studies II and III). READ MORE

  2. 2. Health and People with Usher syndrome

    University dissertation from Örebro : Örebro university

    Author : Moa Wahlqvist; Örebro universitet.; [2015]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Usher syndrome; Deafblindness; Health; General Health; Physical Health; Psychological Health; Social Trust; Financial Situation; Handikappvetenskap; Disability Research;

    Abstract : The present thesis concerns people with Usher syndrome (USH) and their health. People with USH have a congenital hearing loss of various degrees and an eye disease with a progressive course; for some, the balance is also affected. Three clinical groups have been identified 1, 2 and 3, and 13 genes have currently been identified. READ MORE

  3. 3. Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2

    University dissertation from Linköping : Linköping University Electronic Press

    Author : Cecilia Henricson; Linköpings universitet.; Linköpings universitet.; [2015]
    Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Usher syndrome; Cognition; Phonological skills; Lexical Access; Working memory; Reading; Theory of Mind; Deafblindness; Ushers syndrom; Kognition; Fonologisk förmåga; Lexikal access; Arbetsminne; Läsning; Theory of Mind; Dövblindhet;

    Abstract : The present thesis belongs to the research area disability research and deal with specific aspects of cognition in individuals with Usher syndrome type 1 and 2. The subject has been investigated and is discussed within an interdisciplinary framework, though the theories applied and described are derived from the area of cognitive psychology. READ MORE

  4. 4. Impact on participation and service for persons with deafblindness

    University dissertation from Örebro : Örebro universitet

    Author : Kerstin Möller; Örebro universitet.; [2008]
    Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; deafblindness; ICF; participation restriction; service barrier; Usher Syndrome; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; SOCIAL SCIENCES Social sciences; SAMHÄLLSVETENSKAP Socialvetenskap; SOCIAL SCIENCES Social sciences Social work; SAMHÄLLSVETENSKAP Socialvetenskap Socialt arbete; SOCIAL SCIENCES Social sciences Social work Disability research; SAMHÄLLSVETENSKAP Socialvetenskap Socialt arbete Handikappsforskning; Medicinsk handikappvetenskap; Medical Disability Research;

    Abstract : Persons with deafblindness experience difficulties in daily life and they experience service to sometimes barrier. The overall aim of this thesis is therefore to discover, evaluate and explain: 1. mechanisms that might have impact on participation restrictions for people who have visual and hearing impairment i.e. READ MORE

  5. 5. Retinal function in deaf-blind syndromes

    University dissertation from Department of Clinical Sciences, Lund University

    Author : Eva Malm; Lunds universitet.; Lund University.; [2011]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; general anesthesia.; molecular genetics; hearing impairment; full-field electroretinography; Retinal degeneration;

    Abstract : Popular Abstract in Swedish Ett kombinerat syn- och hörselhandikapp påverkar vår möjlighet att kommunicera med omvärlden och det påverkar barnets möjlighet att utvecklas. De senaste decennierna har det skett stora framsteg för patienter med syn- och hörsel handikapp. READ MORE