Search for dissertations about: "Down syndrome"

Showing result 1 - 5 of 88 swedish dissertations containing the words Down syndrome.

  1. 1. Down syndrome Growth and endocrine impact

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Åsa Myrelid; Uppsala universitet.; Uppsala universitet.; [2009]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Down syndrome; growth; growth charts; body proportions; growth hormone; thyroid function; metabolism; body composition; cognition; motor development; Downs syndrom; tillväxt; tillväxtkurvor; kroppsproportioner; tillväxthormon; sköldkörtelfunktion; metabolism; kroppssammansättning; kognitiv förmåga; motorisk utveckling; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Paediatric medicine; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Pediatrisk medicin; pediatrik; Pediatrics;

    Abstract : Down syndrome (DS) is associated with psychomotor retardation, short stature and endocrine dysfunction.Statural growth is a well-known indicator of health. The growth in DS differs markedly from that of other children and there is a 20 cm reduction of final height as compared to target height. READ MORE

  2. 2. Swedish Parents of Children with Down Syndrome A study on the initial information and support, and the subsequent daily life

    University dissertation from Uppsala : Department of Women's and Children's Health, section of Paediatrics

    Author : Gerth Hedov; Uppsala universitet.; Uppsala universitet.; [2002]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICINE Surgery Obstetrics and women s diseases; MEDICIN Kirurgi Obstetrik och kvinnosjukdomar; Pediatrik; Pediatrics; Obstetrics and gynaecology; Down syndrome; Parents; First information; Support; Disclosure; Health; Stress; Sickness absence; Sense of coherence; Obstetrik och kvinnosjukdomar;

    Abstract : In this study 165 Swedish parents of young children with Downs’s syndrome (DS) were investigated regarding their perception of the quality of the first information and support received after the birth of the child. The parents’ opinions were compared with clinical routines at the paediatric clinics regarding these issues. READ MORE

  3. 3. Intellectual Disability and coexisting Autism and ADHD in Down syndrome - a population-based study

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Ulrika Wester Oxelgren; Uppsala universitet.; [2019]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Down syndrome; intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorder; autism phenotype; autism intervention.; Pediatrik; Pediatrics;

    Abstract : The thesis investigated associated neurodevelopmental/neuropsychiatric aspects in a population-based cohort of 60 children and adolescents (5–17 years) with Down syndrome (DS).Forty-one subjects were comprehensively assessed by a clinical research team; 17 (41%) and 14 (34%) met DSM criteria for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), respectively. READ MORE

  4. 4. Induced pluripotent stem cell (iPSC) modelling for the identification of mechanisms behind neurodevelopmental disorders

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Loora Laan; Uppsala universitet.; [2020]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Induced pluripotent stem cells; Neurogenesis; Neural differentiation; Down syndrome; Dravet syndrome; Ataxia; Medical Cell Biology; Medicinsk cellbiologi;

    Abstract : Human induced pluripotent stem cells (iPSCs) have opened new possibilities to recapitulate disease mechanisms and to model disorders in vitro. In the studies presented here, iPSCs were established to model neural differentiation in Down syndrome (DS), caused by trisomy for chromosome 21 (T21); Dravet syndrome (DRS), caused by variants in the SCN1A gene; and an ataxia syndrome, caused by a variant in the NFASC gene. READ MORE

  5. 5. Organ-specific autoantibodies in Addison's disease and autoimmune polyendocrine syndrome type I

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Annika Söderbergh; Uppsala universitet.; [2000]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical sciences; Addison s disease; APS I; Down syndrome; AIRE; autoantibodies; autoantigens; autoimmunity; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

    Abstract : Assessment of autoantibodies is a valuable tool in the diagnostic procedure of autoimmune diseases. The aim of this study was to investigate the prevalence of different autoantibodies and their associations with disease manifestations in patients with Addison's disease and autoimmune polyendocrine syndrome type I (APS I). READ MORE