Mental retardation (MR) is a very heterogeneous common neurodevelopmental disorder with a population prevalence of 2.5-3 %. The importance of genetic factors in the development of MR is high but in a significant number of cases the etiology remains unexplained. Recent studies using array methods pointed to frequent occurrence of copy number variants (CNVs) in patients with MR. Pathogenic CNVs were identified in 10-15 % patients with idiopathic MR and normal karyotype. The aim of our work was the analysis of genome-wide gains and losses of genetic material in a group of Czech patients with MR and a thorough bioinformatic analysis of the genetic changes identified aiming at the assessment of their clinical significance. We performed whole genome analysis using the HumanCytoSNP-12 BeadChips (Illumina) in 183 patients with idiopathic MR, normal karyotype and no FMR1 gene expansion. Data analysis was carried out using two independent programmes, GenomeStudio and QuantiSNP. The findings were subjected to two rounds of thorough bioinformatic analysis. Based on this analysis we classified the CNVs into 4 categories: pathogenic CNVs, probably pathogenic CNVs, CNVs with uncertain clinical significance and benign CNVs. With the exception of the benign variants, all CNVs were confirmed using an independent laboratory...

Key words: Disability, mental retardation, social services, comprehensiveness, continuity, availability. Abstract (in English): The aim of the diploma thesis is to map the needs of persons with disabilities with a focus on persons with mental retardation from birth until the end of their life and also quantity, diversity and quality of social services with emphasis on continuity and comprehensiveness in the former district town of Rychnov nad Kneznou. In this thesis, I will focus on the challenges and needs of families in which a child with disabilities was born and the amount of support and care that the child received in the past and gets in the present. Also, I point out the difficulties associated with the availability of social services for people with disabilities and their families in a village located 20 km from the district town or regional town. In the practical part, I perform empirical investigation of families with children with disabilities where some of them will come from the district town and the surrounding area and some of them from more isolated parts of Rychnov region.

<p> Fragile X Syndrome (FXS) is the most common inherited disease of mental impairment, typically caused by a mutation in the Fragile X mental retardation 1 (FMRJ) gene. The clinical features are thought to result from abnormal neurobiology due to a lack of the Fragile X mental retardation protein (FMRP). Previously, it was thought that FMRP was confined exclusively to neurons; however, our laboratory recently discovered that astrocytes also express FMRP. Consequently, it is possible that astrocytes also suffer abnormalities as a result of a lack of FMRP. Astrocytes play integral roles in the development and maintenance of communication in the central nervous system. Therefore, it is now important to determine the contribution of astrocytes to the abnormal neuronal phenotype seen in FXS. In these experiments, neurons and astrocytes were independently isolated from wild type (WT) or FMRJ null mice and grown in a coculture. Neurons were evaluated using immunocytochemistry in combination with computer-aided morphometric and synaptic protein analyses. The findings presented here provide convincing evidence that Fragile X astrocytes contribute to the abnormal neurobiology seen in FXS . Fragile X astrocytes alter the dendrite morphology and excitatory synaptic protein expression of WT neurons in culture; and, importantly, when Fragile X neurons are grown with WT astrocytes these changes are prevented. Interestingly, the Fragile X astrocytes appear to act by causing a delay in development; even WT neurons grown in the presence of Fragile X astrocytes, that displayed an abnormal phenotype at 7 days in culture, exhibited nearly normal dendrite morphology and expression of excitatory synapses at 21 days. Furthermore, the results suggest that the dendritic abnormalities induced by the Fragile X astrocytes specifically target neurons with a spiny stellate morphology. This research establishes a role for astrocytes in the development of the abnormal neurobiology seen in FXS, and as such, the results presented here have significant implications for Fragile X research. The novel prospect that astrocytes are key contributing components in the development of FXS provides an exciting new direction for investigations into the mechanisms underlying FXS, with many unexplored avenues for potential treatment strategies. </p> / Thesis / Doctor of Philosophy (PhD)

The study aimed at giving a thick description of African families' experiences, views, cultural beliefs and interpretations of traumatic brain injury (TBI), and making recommendations for rehabilitation. It was conducted from the qualitative research paradigm, adopting a phenomenological research method. Twenty-two pairs of participants (patients and their caregivers )were interviewed about their perception of TBI. The semi-structured interviews were conducted at the participants' homes in Sesotho, and where necessary in their home languages. The consequences of TBI were found to follow universal trends (Oddy, 1984). However, participants' perceptions, as shaped by their experiences, views and cultural beliefs, were found to be unique. On analysing the gathered data, using inductive data analysis, it was found that African families' interpretations of TBI were based on beliefs about witchcraft, thwasa, Satanism, ancestral anger and God's wish. Based on these findings, rehabilitation services in the form of education, advocacy, networking and family therapy are recommended. / Psychology / M.A.(Clinical Psychology)

Syftet med denna studie är att bidra med en fördjupad förståelse av och kunskap om hur interaktionen mellan en matematiklärare och en högstadieelev på grundsärskolan gestaltar sig när eleven löser problemlösningsuppgifter. Studien har ett sociokulturellt perspektiv. Studiens metod är videoinspelade klassrumsobservationer på en grundsärskolas högstadium. Studiens observationer fokuserar på interaktionen mellan läraren och en specifik elev under matematiklektionerna där fler elever varit närvarande. Frågeställningarna handlar om talutrymme, initiativtagande, hur eleven visar sin matematiska förståelse, lärarens kommunikationsanpassningar utifrån elevens matematiska förståelse och lärarens språkanvändning som ett verktyg respektive hinder för elevens matematiklärande. Studiens resultat visar att både elev och lärare bidrar till formandet av undervisningen. Eleven visar sin förståelse genom att ställa specifika matematiska frågor, att be om bekräftelse, att be om lotsning/vägledning, att vara helt tyst, att svara på ett osäkert sätt, att svara på ett säkert sätt, att instruera sig själv och att ställa nyfikna frågor. I interaktionen anpassar matematikläraren sitt kommunikationssätt efter elevens matematiska förståelse. Lärarens kommunikationssätt är att med vägledande/lotsande frågor, slutna frågor, bekräftelse, beröm och specifika matematiska frågor stödja elevens lärande i matematik.   Denna studie kan bidra till att öka förståelsen för hur interaktionen mellan matematikläraren och enskild elev – i klassrummet med fler elever närvarande är en viktig undervisningsform där läraren får möjlighet att möta den enskilda eleven utifrån elevens individuella kunskaper. / The purpose of this study is to provide in-depth understanding and knowledge of interaction between math teacher and a junior high student at a special education school when the student works on problem solving tasks. The study has a socio-cultural perspective.   The method for the study consists of video recorded observations from the classroom at a junior high special education school. The observations focus on interaction between the teacher and a specific student during math classes where several students are present.   The questions concern the opportunity to speak, initiative, how the student shows his/hers understanding of mathematics, the teacher´s modifications of the communication based on the student´s understanding of mathematics and how the teacher´s use of the language functions of mathematics as a toll or becomes an obstacle for the student´s learning of mathematics.   The student results shows his/her understanding by asking open questions, requesting confirmation, asking for guidance, remaining totally quiet, answering in an insecure or a confident manner, instructing himself/herself an being curious. The math teacher adjusts his/her mode of communication to the student´s understanding of mathematics during the interaction. The teacher´s mode of communication is to support the student´s learning of mathematics through guiding questions, closed questions, confirmation, praise and specific math questions.   This study can contribute to an increased understanding of how the interaction between the math teacher and a single student – with several students present in the classroom – provides an important form of teaching where the teacher has an opportunity to approach the single student baser on that student´s individual knowledge.

I have sought to discover genetic causes of neuroanatomical defects by conducting N-ethyl-N-nitrosourea mutagenesis and transgenic knock out screens in mice. The rationale behind this is that mutations causal to structural defects will be informative about developmental neurobiology and the biological basis of behaviour. Direct screening for behavioural abnormalities in mice has historically been arduous and yielded few findings due to small effect sizes and limited statistical power. My approach sought to bypass these problems by screening for highly penetrant morphological phenotypes. This thesis details my screens and the histological, genetic and behavioural characterisation of lines of interest. These include models of hydrocephalous, pyramidal cell layer ectopia, abnormal neurogenesis, corpus callosum agenesis, hippocampal enlargement, elevated cell death and hypomyelination. Whilst N-ethyl-N-nitrosourea mutagenesis screening has been conducted since the twilight of the 20^th century, systematic transgenic knock out screening is currently in its infancy. By discovering gene-phenotype associations through both approaches, I have been able to compare the relative yields, strengths and weaknesses of the two screening methods. Additionally, I have discussed the significant of the gene-phenotype associations produced from both screens.

Syfte: Syftet med denna uppsats är att undersöka och jämföra mängden och nivån på fysisk aktivitet under skoldagen, där även lektioner i idrott och hälsa ingår, hos elever på gymnasie- och gymnasiesärskolan. Metod: Målgruppen utgjordes av en klass från gymnasiesärskolan bestående av sex elever och45 elever från fyra klasser från årskurs 1–3 i gymnasieskolan. För att undersöka mängden och nivån av den fysiska aktiviteten användes som mätinstrument stegräknare och pulsmätare. Undersökningen pågick under två skoldagar som inkluderade lektioner i idrott och hälsa. Som teoretiskt ramverk kommer uppsatsen utgå från begreppet fysisk aktivitet, indelat i nivå och mängd, vilket kommer analyseras utifrån begreppet moderate to vigorous physical activity (MVPA) samt hälsorekommendationerna gällande antal steg per dag. Resultat: Undersökningen visade att eleverna i gymnasiesärskolan och gymnasieskolan i genomsnitt ackumulerade ungefär lika många steg under en skoldag. Det var däremot signifikant skillnad när det gällde hur många av skoldagens steg som utfördes under lektionen i idrott och hälsa. Eleverna i gymnasiesärskolan gick ca 34 procent av skoldagens totala antal steg under lektionen i idrott och hälsa medan eleverna i gymnasieskolan gick ca 50 procent. Det var också signifikant skillnad gällande vilken nivå av fysisk aktivitet eleverna låg på under lektionen i idrott och hälsa. Eleverna i gymnasiesärskolan spenderade ca 33 procent av lektionen i MVPA medan motsvarande var 70 procent av lektionen för eleverna gymnasieskolan.    Slutsats: Resultatet gällande total fysisk aktivitet under skoldagen indikerar att eleverna i gymnasiesärskolan har en mer fysisk aktiv skoldag utöver lektionerna i idrott och hälsa än eleverna på gymnasieskolan. Detta eftersom resultatet visar att de kommer upp i liknande antal steg över en hel skoldag, trots att de har färre antal steg på lektionen i idrott och hälsa än eleverna på gymnasieskolan. Beträffande nivån på fysisk aktivitet under lektionen i idrott och hälsa visade resultaten signifikanta skillnader gällande tid spenderad i MVPA mellan grupperna. Eleverna i gymnasiesärskolan spenderade mindre än hälften av lektionstiden i MVPA jämfört med eleverna i gymnasieskolan. En förklaring till det skulle kunna var olika lektionsinnehåll eller problematiken kring utvecklingsstörning. / Purpose: The main purpose of this study was to examine and compare amount and level of physical activity during the school day, which also include a physical education lesson, among pupils in upper secondary school with and without mental retardation. Method: The target group of this study composed of six high school students from one class from special school and 45 students from four classes of first to third grade in the upper secondary school. In order to examine the amount and level of physical activity, the study used pedometers and heart rate monitors. The survey of this study lasted two whole school days which included physical education lessons. As for theoretical framework, this study presupposes from the concept physical activity which is divided into level and amount of physical activity. It will be analyzed with the concept moderate to vigorous physical activity (MVPA)and the recommendation of health regarding steps taken per day. Results: The study showed that students from the special school and upper secondary school on average accumulated the same amount of steps during one school day. There was however a significant difference in how much of the total steps of the school day that was accumulated during the physical education lesson. For the students in the special school about 34 percent of the steps taken during the school day came from the physical education lesson and equal result for the students in upper secondary school was about 50 percent. There were also significant differences regarding the level of physical activity among the students during the lesson in physical education. Students in special school spent about 33 percent of the lesson in MVPA while the students in upper secondary school spent 70 percent of the lesson in MVPA. Conclusion: The result indicates that the students in special school overall have a more active schoolday beyond the lessons in physical education than the students in upper secondary school. This is because the results show that they have the same amount of steps during the whole school day, despite the fact that they have fewer steps than the students in upper secondary school during the lesson in physical education. Regarding the level of physical activity during the lesson in physical education the result showed significant difference between the study groups. The students in the special school spent less than half the time in MVPA compared with the students in upper secondary school. An explanation to that could be different lesson content or the complex of problems regarding intellectual disabilities.

The thesis focuses mostly on discovering unrevealed causes of pathologic phenotype symptoms of patients with whom no pathologic changes in genetic material were detected by common cytogenetic methods. All samples were examined by a chip method array-CGH (comparative genomic hybridization) which detects aberrant spots without any knowledge of where they are located in the genome. In some cases the method was used to verify or specify the finding that was diagnosed during previous genetic testing. The patients were examined by this method in an accredited genetics laboratory GENvia, s.r.o. in 2013 and partly also in 2014. The theoretical part of the thesis focuses on the role of the common cytogenetic method and its diagnostic use. I also describe the basic principle of the array-CGH method and its use in prenatal and postnatal diagnostics. The practical part of the thesis describes results of all examined patients. But mostly it focuses on pediatric patients where the diagnosis correlates with their clinical symptoms. All the results were verified by another method used for the particular diagnosis. Some results were verified by FISH (fluorescence in situ hybridization) method, other ways of the results verification are described as well. In total 8 pathologic findings were discovered in patients up to 12...

This thesis is devoted to the history of Children's Psychiatric Hospital, which was founded in the South Bohemian Opařany in 1887 as a branch of the Prague Institute for the Mentally Ill. For a deeper understanding of the topic, the thesis focuses more on the importance and appreciation of selected personalities who dedicated themselves to people with learning disabilities and psychiatric conditions. In the introductory part, the thesis focuses on the presentation of the field of psychopaedia and the individual selected concepts / definitions that are competently explained using appropriate terminology. It also contains the biography of selected representatives of the field who have contributed to the development of the paradigm of the psychopaedic care. The current specialisation of Opařany hospital and its therapeutic possibilities are particularly discussed, with particular emphasis on the comprehensive component and selected therapeutic methods in special education - art therapy, music therapy, occupational therapy.The work seeks to provide a comprehensive account of the history of the Opařany Institute and of the related topics in the field of the psychopaedic care. Keywords Children's Psychiatric Hospital Opařany The history of special education Mental disorder Mental retardation Psychopaedia...

My thesis deals issue of lifelong learning of adults with mental disabilities. The target of the thesis is to determine " what benefit has lifelong learning for adults with mental disabilities." There is defined issue of mental retardation in the thesis. And also described system of education of people with mental disabilities. Other chapters are focused on lifelong learning for all and on the quality of life of people with mental disabilities. In the next section of the thesis I would like to introduce the Studio Oáza and their activities. I am making research investigation through interviews with adults with mental disabilities in this institution. I chose two research questions to finding target of my thesis: 1) What is reason of visiting of clients' courses in the Studio Oáza and what benefits have these courses for them? 2) What feelings the clients have in the society other people and during the courses in the Studio Oáza?