Sökning: "Usher syndrome"
Visar resultat 1 - 5 av 6 avhandlingar innehållade orden Usher syndrome.
1. Usher syndrome. Prevalence and phenotype - genotype correlations
Sammanfattning : 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). LÄS MER
2. Health and People with Usher syndrome
Sammanfattning : 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. LÄS MER
3. Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2
Sammanfattning : 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. LÄS MER
4. Life Strategies, Work and Health in People with Usher Syndrome
Sammanfattning : 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. LÄS MER
5. Impact on participation and service for persons with deafblindness
Sammanfattning : 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. LÄS MER