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瑞特氏症(Rett syndrome, RTT)為第二型甲基化CPG結合蛋白(2methyl-CpG binding protein 2, MeCP2)基因發生突變所造成的神經發育疾病，其症狀包含了嚴重的運動障礙及自閉傾向等特徵。由於紋狀體(striatum)為運動控制的重要腦區，我們假設RTT的運動障礙主要為紋狀體的功能異常所造成，故利用RTT模式小鼠來研究紋狀體是否為RTT運動障礙的致病原因。利用敞箱試驗(open field test)及加速滾輪測試(accelerating rotarod task)結果發現，Mecp2基因剔除小鼠的活動力明顯下降，並伴隨有運動協調能力的缺失。以免疫組織染色法及西方點墨法分別標定紋狀體中的mu-opioid receptor及calbindin蛋白，發現二者表現量均有明顯下降，然而表現parvalbumin的中間神經元細胞數目卻大量增加。我們發現在紋狀體中多巴胺D2受體的表現量顯著增加，但多巴胺合成酶tyrosine hydroxylase與多巴胺訊號傳遞下游分子DARPP-32蛋白並沒有明顯減少。為了更進一步確認紋狀體的致病角色，我們利用特定在紋狀體中缺少MeCP2的「Mecp2條件缺失小鼠」，觀察其運動行為的改變。結果發現，Mecp2條件缺失小鼠不管是在活動力或是運動學習上都表現出和Mecp2基因剔除小鼠相似的運動障礙，顯示紋狀體所調控的正常活動力及運動學習能力皆需要MeCP2的參與。我們接著進一步探討是否擁有完整MeCP2表現的紋狀體就足以執行正常的運動功能。當Mecp2基因剔除小鼠的紋狀體重新表現MeCP2(即「Mecp2條件回復小鼠」)，MeCP2缺失所造成的運動障礙可被回復到接近野生型小鼠運動能力的正常水準。顯示紋狀體中MeCP2的存在為正常運動控制的充要條件。在以cyclin-dependent kinase-like 5 (Cdkl5)突變小鼠研究MeCP2的磷酸化是否會影響到運動行為，發現Cdkl5突變小鼠在出生早期及成年時期皆存在與Mecp2基因剔除小鼠一致的運動協調能力缺失。免疫組織染色及西方點墨法結果顯示，Cdkl5突變小鼠的紋狀體中mu-opioid receptor表現量有明顯下降，但parvalbumin的中間神經元數目並無改變，而在大腦皮質中多巴胺轉運子DAT1蛋白表現量明顯上升。CDKL5突變造成與RTT相似症狀的原因還須更進一步的探討。綜上所述，本研究為「紋狀體異常可能為RTT運動障礙的主要致病原因」提供動物模式的實驗證據，並提供了一個新的觀點用於未來治療RTT或防止其症狀的惡化。

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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

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...