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Evaluation of phenotypic expression of proximal 15q chromosomal region amplifications
Duračková, Jana ; Slámová, Zuzana (advisor) ; Trková, Marie (referee)
Proximal region of the long arm of chromosome 15 (region 15q11-q13) is susceptible to occurence of deletions, duplications and inversions in the process of non-allelic homologous recombination due to the presence of five breaking points. Manifestation of these aberrations can differ depending on the parental origin of the derivative chromosome due to the presence of imprinted genes. Deletions of this region cause well-known disorders - Prader-Willi and Angelman syndromes. Phenotypic features linked to amplifications of this region (autism, developmental delay, speech delay, epilepsy, hypotonia) are variable and these amplifications are often inherited from a healthy parent. This thesis concerns itself with evaluation of phenotypic expression of amplifications of chromosomal region 15q11.2q13.3 in terms of genotype-phenotype correlation with the aim to contribute to explanation of these recurrent findings. A cohort of 36 patients with a detected amplification of this region was divided into multiple groups according to various criteria - size and gene content of the amplification, parental origin of the amplification and the presence of a second detected variant. Within these groups, we also took the number of copies and the location of the amplified region (interstitial amplification/marker...
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Representation of autism and people with autism spectrum disorders in Czech national newspapers
Straková, Zuzana ; Nečas, Vlastimil (advisor) ; Čeňková, Jana (referee)
In this thesis, I focus on the representations of autism and people with autism spectrum disorder in seven Czech national daily newspapers. Before I proceed to my own analysis, I deal with the definition of the term ʻmedia representationʼ. There exists an incorrect idea about this term which suggests that media only passively present something that is already given. But in fact, media actively help to shape the notion of autism. Based on foreign literature I describe how media represent people with disabilities, as well as how media portray autism and people with autism spectrum disorder. Research focusing on media representation of autism in Australia, United States, United Kingdom and China is described in detail. These works inspired me and served as the basis of my own research aiming at Czech media. In my research, I study which aspects of autism are usually mentioned, if and how media write about causes and solutions of autism, what are the different modes of representation and in connection with which frames, themes and sources we usually come to learn about autism. I also explore the changes of representation between years 2006 to 2016. With regard to these research questions I analyze the content of 539 newspaper articles. Furthermore, I illustrate my results with graphs and tables. In...
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Possible causes of the increase of autism
Tomašovičová, Katarína ; Niederlová, Markéta (advisor) ; Draberová, Jana (referee)
This paper focuses on depicting potential causes of the increase in autism. The theoretical part includes a definition of autism, a historical development in the understanding of autism, a development of diagnostic criteria and their potential effect on autism prevalence. The differences between the global classification systems ICD and DSM are also described. Later, the difficulty of ASD diagnosis alone is discussed. The next section presents views on the etiology of autism which are divided into etiology on psychological basis, etiology based on genotype, and environmental etiology, according to operating factors. The last chapter of the theoretical part is for clarity devoted to the summary of the possible causes of the increase in autism. A research proposal which deals with advanced parental age as a risk factor of autism is also a part of the paper.
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