Search for dissertations about: "rtt"

Showing result 1 - 5 of 12 swedish dissertations containing the word rtt.

  2. 1. Genetic studies of children with mental retardation

    Author : Saideh Rajaei; Göteborgs universitet; []
    Keywords : 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;

    Abstract : 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. READ MORE

  4. 2. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Author : Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Abstract : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. READ MORE

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

    Author : Gunilla Larsson; Britta Lindström; Ingegerd Witt Engerström; Åsa Bartonek; Umeå universitet; []
    Keywords : 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.;

    Abstract : 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. READ MORE

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

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

    Abstract : 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. READ MORE

  7. 5. Time for Activities for Girls and Women with Rett Syndrome

    Author : Åsa-Sara Sernheim; Gunilla Liedberg; Helena Hemmingsson; Ingegerd Witt Engerström; Liselott Hermansson; Linköpings universitet; []
    Keywords : 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.;

    Abstract : 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. READ MORE