Sökning: "autism phenotype"
Visar resultat 1 - 5 av 13 avhandlingar innehållade orden autism phenotype.
1. Intellectual Disability and coexisting Autism and ADHD in Down syndrome - a population-based study
Sammanfattning : 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. LÄS MER
2. Early Self-Regulation in Infant Siblings : Specific and Shared Associations to Emerging Autism and Co-ocurring ADHD
Sammanfattning : 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. LÄS MER
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
Sammanfattning : 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). LÄS MER
4. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders
Sammanfattning : 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. LÄS MER
5. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders
Sammanfattning : 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. LÄS MER