Search for dissertations about: "Usher Syndrome"

Showing result 1 - 5 of 6 swedish dissertations containing the words Usher Syndrome.

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

   Author : Mehdi Sadeghi; Göteborgs universitet; []
   Keywords : 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

4. 2. Health and People with Usher syndrome

   Author : Moa Wahlqvist; Berth Danermark; Claes Möller; Kerstin Möller; Elina Mäki-Torkko; Örebro universitet; []
   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

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

   Author : Cecilia Henricson; Björn Lyxell; Claes Möller; Björn Lidestam; Håkan Alm; Linköpings universitet; []
   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

6. 4. Life Strategies, Work and Health in People with Usher Syndrome

   Author : Mattias Ehn; Claes Möller; Agneta Anderzén Carlsson; Kerstin Möller; Berth Danermark; Moa Wahlqvist; Lene Martin; Örebro universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Deafblindnesss; health; life strategies; lived experience; Usher syndrome; work;

   Abstract : Introduction: People with Usher syndrome (USH) have an inherited disorder causing congenital deafness or hearing loss combined with progressive vision loss and, in some cases, balance problems. Previous research has shown that people with USH have poor physical and psychological health. READ MORE

7. 5. Impact on participation and service for persons with deafblindness

   Author : Kerstin Möller; Berth Danermark; Claes Möller; Rune Simeonsson; Örebro universitet; []
   Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; deafblindness; ICF; participation restriction; service barrier; Usher Syndrome; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; Social sciences; Socialvetenskap; Social work; Socialt arbete; Disability research; 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