Sökning: "developmental disability"

Visar resultat 21 - 25 av 53 avhandlingar innehållade orden developmental disability.

  1. 21. Cross-cultural adaptation and psychometric properties of two questionnaires for the assessment of occupational performance in children with disability : Children's Hand-use Experience Questionnaire (CHEQ) and Pediatric Evaluation of Disability Inventory (PEDI)

    Författare :Ahmed Amer; Liselotte Norling Hermansson; Ann-Christin Eliasson; Åsa Lundgren-Nilsson; Örebro universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Measurement tool; occupational performance; Rasch analysis; reliability; cross-cultural; validity evidence; Jordan; Uganda;

    Sammanfattning : Globally, 93–150 million children live with some form of disability, most of them live in developing countries. Occupational performance describes a person’s ability to execute tasks that are meaningful, in the context in which the person lives. LÄS MER

  3. 22. Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    Författare :Sanna Gudmundsson; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; translational research; Mendelian disorders; intellectual disability; sequencing technologies;

    Sammanfattning : Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. LÄS MER

  4. 23. Congenital and Childhood Myotonic Dystrophy type 1 - the impact on central nervous system, visual and motor function

    Författare :Anne-Berit Ekström; Göteborgs universitet; []
    Nyckelord :myotonic dystrophy type 1; children; muscle strength; motor function; autism spectrum conditions; learning disability; adaptive skills; visual impairment; hyperopia;

    Sammanfattning : Background and aims: Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder, caused by an expanded CTG repeat on chromosome 19. The disorder can present both in children and adults. LÄS MER

  5. 24. Sequence based identification of genetic variation associated with intellectual disability

    Författare :Jin Zhao; Lars Feuk; Anna Lindstrand; Uppsala universitet; []
    Nyckelord :;

    Sammanfattning : Intellectual disability (ID) is a common neurodevelopmental condition, often caused by genetic defects. De novo variation (DNV) is an important cause of ID, especially in severe or syndromic forms of the disorder. Next generation sequencing has been a successful application for finding pathogenic variation in ID patients. LÄS MER

  7. 25. Autism spectrum disorders - first indicators and school age outcome

    Författare :Martina Barnevik Olsson; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Autism spectrum disorder; autistic traits; neurodevelopmental disorders; attention-deficit hyperactivity disorder; language impairment; regulatory problems; A-TAC; adaptive behavior; borderline intellectual functioning; intellectual disability; outcome; ESSENCE; Autism Plus;

    Sammanfattning : Background: Studies of early indicators, diagnostic stability and outcome at mid-school age in children referred early in life for a suspected autism spectrum disorder (asd) have been few. Aims: To examine early indicators of asd and eight-year stability of asd diagnoses, comorbidity, cognitive levels and overall clinical profiles, in children diagnosed with asd in preschool age after receiving early intervention. LÄS MER