Search for dissertations about: "Alström syndrome"
Found 4 swedish dissertations containing the words Alström syndrome.
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1. Deafblindness : Theory-of-mind, cognitive functioning and social network in Alström syndrome
Abstract : This thesis addresses young adults with Alström syndrome (AS). AS causes acquired deafblindness, a severe, progressive, combined auditory and visual impairment affecting daily life and self-reliance to a degree that full participation depends on help from others and society. READ MORE
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2. Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects
Abstract : The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. READ MORE
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3. Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2
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
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4. Retinal function in deaf-blind syndromes
Abstract : A variety of disorders can cause retinal degeneration and hearing impairment, and it is of great value to have an early diagnosis since there is a large variation in phenotype and prognosis both within and between the different disorders. The general aim of this thesis was to characterize the retinal function, to describe the phenotype, and – where appropriate – to relate the phenotype to genotype in patients with combined visual and hearing impairment. READ MORE