Search for dissertations about: "mental retardation"

Showing result 21 - 25 of 59 swedish dissertations containing the words mental retardation.

  2. 21. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

    Author : Bodil Edman Ahlbom; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : Chromosomal abnormalities as well as mutations in single genes are genetic changes that can cause syndromes or inherited diseases. Down syndrome (DS), usually a consequence of trisomy 21, is a gene dosage disorder caused by an extra copy of genes on chromosome 21, but the mechanisms whereby specific genes contribute to the clinical features of DS are not known. READ MORE

  4. 22. Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects

    Author : Ruth Riise; Lund Oftalmologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Laurence-Moon-Bardet-Biedl syndrome; Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal anomalies. Hypogenitalism. Variation. Overlapping. Genetic linkage mapping.; Alström syndrome; Ophtalmology; Oftalmologi;

    Abstract : The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. READ MORE

  5. 23. Cytomegalovirus and herpes simplex virus infections in the fetus and newborn infant, with regard to neurodevelopmental disabilities

    Author : Mona-Lisa Engman; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The congenital cytomegalovirus infection (CMV) is the most common congenital infection causing childhood morbidity. The majority (85%) of infected infants have no signs of infection in the newborn period, and when sequelae such as a hearing deficit or neurological impairment manifest themselves, the possibility of a CMV infection is easily overlooked. READ MORE

  6. 24. Characterization of chromosome abnormalities

    Author : Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Inborn chromosome abnormalities are a frequent cause of mental retardation and birth defects. Apart from aberrations that are visible in the microscope, a number of submicroscopic alterations have recently been discovered, and all of these chromosome changes are in fact the result of DNA alterations at the molecular level. READ MORE

  7. 25. Treatment Evaluation and Screening of Autism

    Author : Bengt Persson; Institutionen för psykologi; []
    Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Psychology; screening of infants; children; adults; TEACCH; Autism; treatment review; Psykologi; Autism;

    Abstract : The aims of this thesis were: to review studies of treatment evaluation from the years 1992-2002; to evaluate the Treatment and Education of Autistic and related Communication Handicapped Children, TEACCH, treatment model for adults and children with autism; to develop and evaluate a screening instrument for early detection of autism and other developmental deficits, SEEK. The instruments used were: the Altman Checklist for Evaluating Medical Research; the Adult and Adolescent PsychoEducational Profile, AAPEP; and the SEEK. READ MORE