Sökning: "Alström syndrome"

Hittade 5 avhandlingar innehållade orden Alström syndrome.

  1. 1. Deafblindness : Theory-of-mind, cognitive functioning and social network in Alström syndrome

    Författare :Hans-Erik Frölander; Claes Möller; Björn Lyxell; Erland Hjelmquist; Örebro universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alström syndrome; Deafblindness; Theory-of-mind; Communication; Verbal ability; Executive functions; Working memory; Health problems; Friendship; Social network; Handikappvetenskap; Disability Research;

    Sammanfattning : 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. LÄS MER

  3. 2. Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects

    Författare :Ruth Riise; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Laurence-Moon-Bardet-Biedl syndrome; Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal anomalies. Hypogenitalism. Variation. Overlapping. Genetic linkage mapping.; Alström syndrome; Ophtalmology; Oftalmologi;

    Sammanfattning : 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. LÄS MER

  4. 3. Aspekter på lärande vid dövblindhet : möjligheter och begränsningar för personer med Alström syndrom

    Författare :Berit Rönnåsen; Claes Möller; Agneta Anderzen-Karlsson; Kerstin Möller; Björn Lyxell; Örebro universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alström syndrome AS ; learning; vision loss; sensoneural progressive hearing loss; progressive vestibular loss; deafblindness; Handikappvetenskap; Disability Research;

    Sammanfattning : .... LÄS MER

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

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

    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

  7. 5. Retinal function in deaf-blind syndromes

    Författare :Eva Malm; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; general anesthesia.; molecular genetics; hearing impairment; full-field electroretinography; Retinal degeneration;

    Sammanfattning : 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. LÄS MER