Sökning: "Rett syndrome RTT"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden Rett syndrome RTT.

  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. Genetic studies of children with mental retardation

    Författare :Saideh Rajaei; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

    Sammanfattning : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. 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. Downstream effects of master regulators in two brain diseases

    Författare :Sebastian Braun; Stamcellscentrum (SCC); []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rett syndrome; brain tumor development; gene regulation; neural stem cells; cell of origin; BMI1;

    Sammanfattning : In paper one, we investigated how the pharmacological activation and inhibition of the glucocorticoid system affects lifespan and symptoms in a mouse model for RTT. We performed a long-term drug treatment study with the GR activator corticosterone and the GR inhibitor RU486 under which we measured the lifespan and onset of RTT-like symptoms of male Mecp2-null and female Mecp2 heterozygous mice in comparison to untreated mutant and to treated and untreated wild-type animals. LÄS MER