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Use of alternative and augmentative communication systems for people with disturbed communication ability
Svobodová, Barbora ; Durdilová, Lucie (advisor) ; Hájková, Vanda (referee)
The presented bachelor thesis deals with the issue of the use of alternative and augmentative communication in people with impaired communication abilities. The text explained the theoretical basis of the work, including concepts: communication, communication disorder, Rett syndrome - RTT and systems of alternative and augmentative communication - AAC. The issue of RTT is processed to serve as a source of information about this rare disease. The thesis is mainly focused on AAC systems usable for people with RTT. The practical part consists of case study of girl with RTT. It analyzes the current development of the child, including her communication skills. It describes the current status of the level of communication skills, discusses progress of training the AAC system VOKS with this girl and analyzes the impact of the use of VOKS on her communication skills development. Keywords: communication disorder, Rett syndrome, pervasive developmental disorders, augmentative and alternative communication, VOKS
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Communication in girls with Rett Syndrome
Sobotová, Zdeňka ; Klenková, Jiřina (advisor) ; Durdilová, Lucie (referee)
TITLE: Communication in Girls with Rett Syndrome AUTHOR: Zdeňka Sobotová DEPARTMENT: Department of Special Education SUPERVISOR: doc. PaedDr. Jiřina Klenková, Ph.D. ABSTRACT: This thesis investigates the communication in girls with Rett syndrome. Rett syndrome is a severe neurological disorder leading to multiple disabilities and severely impaired communication skills. The aim of the thesis is to describe the communication skills of girls with Rett Syndrome, the role of parents in the development of communication and the possibilities for communication intervention. This issue is presented on case histories of three girls with Rett Syndrome of various ages, acquired from semi-structured interviews with parents or caregivers of girls and participative observation of girls' behaviors and their interaction with the environment. The research results in the description of motor and communication skills and methods used to develop communication with the three girls with Rett Syndrome. Research shows that even though the communication capabilities of girls with Rett Syndrome are very individual, parents are looking for ways to develop the communication skills of their daughters and they expect the professional advice from special educators, which they, in their opinion gets poorly. KEYWORDS: Rett Syndrome,...
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Occupational therapy intervention for children with Rett syndrome
Husovská, Veronika ; Hůlková, Pavla (advisor) ; Gerlichová, Markéta (referee)
This thesis deals to occupational therapy intervention for children with Rett syndrome. The aim of this bachelor thesis is to describe Rett syndrome and summary of occupational therapy interventions for girls with this disease. The thesis is divided into two parts. One is theoretical and the other is practical. The theoretical part describes the characteristics of Rett syndrome, its diagnosis, symptoms and 5 stages of the syndrome. The theoretical part describes the methods by which is possible to work with girls with Rett syndrome through the occupational therapy. The practical part contains two case studies of girls with this diagnosis. Elements of this theoretical methods and their interpretation were used in medical treatment of this girls. Practical knowledges show us that individual approach is important for the patient and so it is neccessary to use individually determined treatment plan. Key words: Occupational therapy, Rett syndrome, apraxia, compensation aids, girls, psychomotor evolution
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Caring for a Girl with Rett Syndrome in the Family
Pěnková, Michaela ; Němec, Zbyněk (advisor) ; Zemková, Jaroslava (referee)
The diploma thesis deals with the care of a girl with Rett syndrome (RTT) in the family. The six main chapters and individual subchapters present the issues of Rett syndrome, the family of a girl with RTT and area of care for a girl with RTT. The first chapter of the diploma thesis presents the fundamental issues related to Rett syndrome with an outline of the history, definition, causes and manifestations. The prevalence and incidence, diagnosis and manifestations of RTT are presented. The following subchapters are devoted to the individual stages of Rett syndrome, their course and the issue of RTT in boys. The second chapter focuses on the issue of the family caring for a child with a disability, presents a definition of the family and the stages of acceptance of a child with a disability. The following subchapters present the complex care for a child with a disability and present an overview of possible forms of support for families of children with disabilities. The third chapter deals with selected areas of care that parents of girls with RTT often have to provide. The individual subchapters include the following areas such as hygiene, sleep, diet, mobility, communication and health care. The fourth chapter is the research survey itself, conducted qualitatively. The research aimed to find out...
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Occupational Therapy Intervention for Children with Rett Syndrom in Early School Age Subtitle: Possibilities of Motor Skills Development through Leisure Activities
Tesařová, Lucie ; Vavříková, Marianna (advisor) ; Kuželková, Anna (referee)
BACHELOR THESIS ABSTRAKT Name, Surname: Lucie Tesařová Supervisor: Mgr. Marianna Vavříková Title: Occupational Therapy Intervention for Children with Rett Syndrom in Early School Age Abstract: The bachelor thesis is focused on the possibilities of developing motor skills in girls with Rett syndrome through leisure activities. Rett syndrome is a neurodegenerative disease associated with a pathogenic gene mutation. The aim of the thesis is to describe the subjective view of parents on how leisure activities develop the motor skills of girls with Rett syndrome in early school age. All from the occupational therapist perspective. The bachelor thesis contains a theoretical and practical part. The theoretical part describes the issue of Rett syndrome, the characteristics of the disease, the clinical picture, the issue of communication and the stage of the disease with the possibility of occupational therapy intervention. It is also focused on the importance of leisure time and leisure activities for the child and its family. At the same time, the author suggests some opportunities of how leisure activities can be used to develop motor skills in girls with Rett syndrome. In the practical part, case reports of three girls with this diagnosis are processed. In this part, three semi-structured interviews were...
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Detailed characterization of the interaction between LEDGF/p75 and MeCP2
Naušová, Karolína ; Veverka, Václav (advisor) ; Hrabal, Richard (referee)
Epigenetics investigates heritable phenotype changes that are not caused by alternations in DNA sequence. Major epigenetic mechanisms include covalent DNA modifications (particularly methylation), histone and chromatin modifications and RNA interference. These mechanisms are involved in number of processes from transcription to translation. Lens epithelium-derived growth factor (LEDGF/p75) is ubiquitously expressed in human body and it is considered to be a transcriptional coactivator upregulated upon stress conditions. LEDGF/p75 consists of several domains. The N-terminal PWWP domain plays very important role from epigenetic point of view as it is able to bind di- and trimethylated lysine 36 of histone 3, which is considered as an epigenetic marker of transcriptionally active chromatin. LEDGF/p75 interaction partners include e.g. HIV integrase, MLL1-MENIN complex or MeCP2. A shorter isoform of LEDGF/p75 called LEDGF/p52 shares with LEDGF/p75 its N- terminal part that is responsible for interaction with DNA and chromatin. Methyl-CpG-binding protein 2 (MeCP2) is present everywhere in human body with the highest abundance in brain. MeCP2 is a transcriptional modulator remodelling chromatin, therefore its function is to activate or repress gene depending on the molecular and cellular context. Among...
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Genetics of psychic diseases
Krčmářová, Eliška ; Šolc, Roman (advisor) ; Dudová, Iva (referee)
Psychological diseases are very heterogeneus group of diseases, including a complicated and complex multifactorial etiology with a possibility of an important role of a genetic component. Some diaseses got discovered their clear genetic origins, for instance Rett syndrom, where the origins are caused by a mutation in gen MECP2. The origins of a majority of other psychological diseases are more complex - it is chiefly a combination of specific polymorphism of many gens with an impact of an external environment. Among this group we can range diaseases such as anxiety disorder, eating disorder, schizophrenia and bipolar disorder. Autism presents the polymorphism of few different gens, however other mentioned diseases presents mainly polymorphism of genes, connected into neurontransmission. This thesis deals with a selection of potential genetic causes of psychological diseases, illustrated by the specific examples. Keywords: psychological diseases, Rett syndrom, autism, neurotransmitters, anxiety disorder, eating disorders, schizophrenia, bipolar disorder, mutation, polymorphism
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Education for girls with Rett syndrome
Vácová, Zdeňka ; Zemková, Jaroslava (advisor) ; Šumníková, Pavlína (referee)
The aim of this work is to enable a person to perceive and understand the specific features of behaviour of girls having Rett syndrome and to offer effective options for activities and effort in the process of education. The substance of the collection of suggestions and proposals for actions and activities as well as tools and equipment sorted according to equipment and objects used at a special needs education primary school. Practical advice, recommendations and suggestions are based on theoretical grounds and basis, particular examples or photo documentation. The work is founded on study cases of two girls with Rett syndrome where there are not only the girls' results and evaluations in the educational process described but also the personal stories of their families and different way of dealing with the tough life situations. The work results enable to discover a suitable attitude not only towards the girls but as well to their parents, siblings or classmates. KEYWORDS rare disease, Rett syndrome, mental disorder, communication, upbringing, education, general regularities, practical activities and actions, case study
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Occupational therapy intervention for children with Rett syndrome
Husovská, Veronika ; Hůlková, Pavla (advisor) ; Gerlichová, Markéta (referee)
This thesis deals to occupational therapy intervention for children with Rett syndrome. The aim of this bachelor thesis is to describe Rett syndrome and summary of occupational therapy interventions for girls with this disease. The thesis is divided into two parts. One is theoretical and the other is practical. The theoretical part describes the characteristics of Rett syndrome, its diagnosis, symptoms and 5 stages of the syndrome. The theoretical part describes the methods by which is possible to work with girls with Rett syndrome through the occupational therapy. The practical part contains two case studies of girls with this diagnosis. Elements of this theoretical methods and their interpretation were used in medical treatment of this girls. Practical knowledges show us that individual approach is important for the patient and so it is neccessary to use individually determined treatment plan. Key words: Occupational therapy, Rett syndrome, apraxia, compensation aids, girls, psychomotor evolution
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