Sökning: "Rett syndrome"

Visar resultat 1 - 5 av 11 avhandlingar innehållade orden Rett syndrome.

  1. 1. Rett syndrome, motor development, mobility and orthostatic reactions : loss of function, difficulties and possibilities

    Författare :Gunilla Larsson; Britta Lindström; Ingegerd Witt Engerström; Åsa Bartonek; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rett syndrome; child development; developmental disabilities; gait; impairment; mobility; motivation; motor skills disorders; orthostatic intolerance; physiotherapy; recovery of function.;

    Sammanfattning : Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. LÄS MER

  3. 2. Symbol-based communication intervention for individuals with Rett syndrome : Current practices, assessment of visual attention, and communication partner strategies

    Författare :Helena Wandin; Karin Sonnander; Per Lindberg; Mariann Hedström; Jakob Åsberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; aided communication; augmentative and alternative communication AAC ; assessment tools; communication intervention; eye-gaze technology; partner strategies; Rett syndrome; visual attention; Hälso- och sjukvårdsforskning; Health Care Research;

    Sammanfattning : Individuals with Rett syndrome need extensive support to actively participate in social interaction and to develop their communication. The overall aim of this thesis was to investigate communication intervention for individuals with Rett syndrome, especially aided symbol-based communication and partner strategies. LÄS MER

  4. 3. Time for Activities for Girls and Women with Rett Syndrome

    Författare :Åsa-Sara Sernheim; Gunilla Liedberg; Helena Hemmingsson; Ingegerd Witt Engerström; Liselott Hermansson; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Activities of daily living; activity patterns; neurodevelopmental disorder; occupation; occupational therapy; Rett syndrome; time-geographical diary method; time use.;

    Sammanfattning : Irrespective of the great individual variation, people diagnosed with RTT largely rely on support from others to be able to do and participate in activities throughout their lives. This thesis focuses on which activities are done and liked/disliked by girls and women with RTT in Sweden. LÄS MER

  5. 4. Health-enhancing participation in girls and women with Rett syndrome - a balancing act

    Författare :Michelle Stahlhut; Människan i rörelse: hälsa och rehabilitering; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rett syndrome; Multiple disabilities; Outcome measures; Physical behavior; Physical activity; Sedentary behavior; Facilitators; Barriers; Participation; ’Uptime’ activities;

    Sammanfattning : Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. It is associated with multiple disabilities including intellectual disability leading to a high level of dependency in all aspects of daily living including participation in physical activities. LÄS MER

  7. 5. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

    Författare :Anna Erlandson; Göteborgs universitet; []
    Nyckelord :CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Sammanfattning : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. LÄS MER