Search for dissertations about: "autism phenotype"

Showing result 1 - 5 of 13 swedish dissertations containing the words autism phenotype.

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

   Author : Ulrika Wester Oxelgren; Jan Gustafsson; Fernell Elisabeth; Åsa Myrelid; Göran Annerén; Maj-Britt Posserud; Uppsala universitet; []
   Keywords : 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. 2. Early Self-Regulation in Infant Siblings : Specific and Shared Associations to Emerging Autism and Co-ocurring ADHD

   Author : Linn Andersson Konke; Karin Brocki; Terje Falck-Ytter; Sam Wass; Uppsala universitet; []
   Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Self-Regulation; Autism; ADHD; Temperament; Executive Functions; Psychology; Psykologi;

   Abstract : The overall aim of this thesis was to examine aspects of self-regulation and the emergence of co-occurring autism and ADHD traits early in life, to enhance our understanding of specific and shared mechanisms underlying these conditions. Previous studies have shown that vulnerabilities in temperament and executive functions (EF) are closely related to both conditions, with overlapping as well as specific features associated to each phenotype. READ MORE

5. 3. Autism syndromes in three behavioural phenotype conditions. A clinical psychiatric study of 76 individuals with Möbius sequence, CHARGE syndrome, and oculo-auriculo-vertebral spectrum

   Author : Maria E I Johansson; Göteborgs universitet; []
   Keywords : autism syndromes; behavioural phenotype conditions; Möbius; CHARGE; OAV; ADI-R; CARS; ABC; brain stem;

   Abstract : AUTISM SYNDROMES IN THREE BEHAVIOURAL PHENOTYPE CONDITIONS A clinical psychiatric study of 76 individuals with Möbius sequence, CHARGE syndrome, and oculoauriculovertebral spectrum Maria Johansson Institute of Neuroscience and Physiology, Child and Adolescent Psychiatry, Göteborg University, Sweden Abstract Objectives: (1) Examine the prevalence of autism syndromes in three different Behavioural Phenotype Conditions (BPCs), (2) examine background and associated factors/conditions, and (3) describe and evaluate diagnostic difficulties in this field of research. Method: As part of multidisciplinary surveys of Möbius sequence (Möbius) (n=25), CHARGE syndrome (CHARGE) (n=31) and oculoauriculovertebral spectrum (OAV) (n=20), the occurrence of autism symptoms was assessed utilizing the DSM-III-R and DSM-IV checklists for autistic disorder (AD), the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behavior Checklist (ABC). READ MORE

6. 4. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

   Author : Mahmoud R. Mansouri; Niklas Dahl; Hans Van Bokhoven; Uppsala universitet; []
   Keywords : Genetics; Chromosomal abnormalities; Mental retardation; Hypospadias and anal malformation; Premature ovarian failure; Autism; Array-CGH; ZDHHC15; Genetik;

   Abstract : Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. READ MORE

7. 5. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

   Author : Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Abstract : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. READ MORE