The thesis discusses the issues of communication of young people with mental disabilities. The theoretical part of the diploma work defines mental retardation. It shows the life of a mentally-disabled young person and explains the educational and employment opportunities of such young people. The theoretical part further focuses on the speech of persons with intellectual disabilities. It provides information about the development of speech and about impaired communication abilities. The work outlines the possibilities of speech therapy, its diagnostics and intervention. A diagnostic test oriented on the communication of young people with mental disability in selected situations of daily life was created within the practical part of the thesis. The speech of pupils was analysed on the basis of a test used in a selected two- year practical primary school, and on the basis of available documents and interview with the class teacher. A proposal of communication development was created for every pupil, which can be used in the preparation of the pupil's individual education plan. The contribution of the thesis is in the created proposal of measures for the development of communication of pupils at two-year practical schools, which is consistent with the school curricular documents. KEYWORDS...

Master thesis has theoretical and empirical nature. Its aim is to verify the use and effectiveness of selected methods of working with people with intellectual disabilities in CDS for adults. The theoretical part is devoted to three basic themes. The first issue is devoted generally to persons with MP: MP definition, etiology, classification. Briefly analyzes the life situation of people with MP and their families. The second part focuses on social services to designated persons with MP, especially at day service centers for adults, outlining the personality and noted social worker and current legislation related to that. There is also a subsection dealing with the specifics of working with people with intellectual disabilities. The second part of the educational requirements for closed environments. In the third part present the outline of the four communication approaches. In the practical section describing the application of action research using different approaches in day services for adults with mental disabilities in the center Rolnicka Soběslav.

The master thesis deals with the problem of lifelong learning of adults with mental disability in Activation Centre courses. The aim of this thesis is to introduce the pilot project of Activation Centres as one of the lifelong learning posibilities for adults with mental disability. The mental retardation and adulthood of people with mental disability are briefly defined. The common system of education of people with mental disability in the Czech Republic is described with the emphasis on crucial area of lifelong learning. Activation Centres are defined in detail. The survey, which is monitoring the circumstances of existing education in Activation Centres from the lecturers'and methodists'point of view, is introduced in the conclusion. An essential part of this thesis comprises of the interviews with courses participants themselves. Keywords Mental retardation, adulthood, education, education of people with mental disability, lifelong learning, Activation Centre, quality of life.

INTRODUÇÃO: A síndrome de Kabuki (SK) é uma doença genética de etiologia desconhecida, cujas características cardinais são: dismorfismos faciais, baixa estatura de inicio pós-natal, anomalias esqueléticas, déficit cognitivo e alteração de dermatóglifos. Já foram descritas alterações em outros órgãos e sistemas. O diagnóstico é clínico. OBJETIVOS: Descrever os achados clínicos, e a evolução clínica de pacientes com SK. CASUÍSTICA E METODOLOGIA: Foram estudados 12 pacientes, oito do sexo feminino e quatro do sexo masculino, onde foram realizados: anamnese, exame físico, revisão de prontuário, avaliação cardiológica e odontológica, exames de imagem e laboratoriais. RESULTADOS: Todos pacientes tinham: face típica, déficit cognitivo, alterações esqueléticas e persistência de padrão fetal em coxins digitais. As alterações esqueléticas mais freqüentes foram: braquidactilia do quinto dedo, frouxidão ligamentar e luxação de quadril. A baixa estatura foi encontrada em 8/12 pacientes. Oito apresentavam ausência de dentes. Alterações oftalmológicas foram identificadas em sete. Na avaliação da audição, três tinham otites e dois, perda auditiva. Cinco pacientes apresentaram doenças respiratórias. Três pacientes apresentavam cardiopatias, e uma tinha somente alteração eletrocardiográfica. Seis pacientes tiveram dificuldades alimentares nos primeiros anos de vida e cinco, refluxo gastroesofágico. Três pacientes tinham anomalias renais, dois apresentaram enurese noturna e dois criptorquidia. Hipotonia estava presente em cinco pacientes e convulsões em quatro. Hipotireoidismo estava presente em duas pacientes e uma paciente tinha deficiência de hormônio de crescimento. Dois pacientes relataram um episódio de púrpura trombocitopênica. Alterações imunológicas foram identificadas em três pacientes. Anomalias do cromossomo X foram identificadas em duas pacientes. Nenhum paciente faleceu durante o estudo. Dos pacientes com mais de 18 anos, 3/4 tinham baixa estatura e nos pacientes com mais de 10 anos 4/7 tornaram-se obesos. DISCUSSÃO: A maioria de nossos achados foi compatível com a encontrada na literatura. As pacientes com alterações no cromossomo X, apresentavam características de SK e síndrome de Turner, não podendo descartar ou confirmar a coexistência destas duas doenças. CONCLUSÕES: a SK apresenta uma grande variabilidade clínica, devendo seus portadores, ter suporte multidisciplinar. As anomalias renais, cardíacas, imunológicas e esqueléticas, foram responsáveis pelas principais complicações clínicas relatadas / INTRODUCTION: Kabuki syndrome (KS) is a genetic disease which cardinal manifestations are: facial dysmorfism, short stature of postnatal onset, skeletal abnormalities, mental retardation and abnormal dermatolyphics. Beside these manifestations, abnormalities of every organ system, has been described. The diagnosis is clinical. OBJECTIVES: The objective is to describe the clinical manifestations and the follow-up of patients with Kabuki syndrome. PATIENTS AND METHODS: Twelve patients were studied, eight female and four male, not related, in which anamnesis, physical examination, review of their clinical records, odontological and ophthalmological evaluation, radiological and laboratorial tests, were performed. RESULTS: All patients have: typical face, mental retardation, skeletal abnormalities and presence of fingertip pads. Short stature was present in 8/12 patients. The most frequent skeletal abnormalities were: short fingers, hypotony and hip dislocation. Eight patients have absence of teeth. Ophthalmologic abnormalities were found in seven patients. On hearing evaluation, three patients have recurrent otitis and hearing lost was identified in two patients. Apnea and laryngo malacia was present in one patient. Three patients presented congenital cardiopathy and one patient without cardiopathy had an anomaly at electrocardiography. At the first years of life, six patients had feeding difficulties, with one whom needed a gastrostomy tube and five had gastroesofageal reflux. A kidney and urinary tract malformation was found in three patients, two had nocturnal enuresis, and two had undescended testis. Hypotonia was present in five patients and four reported seizures. Hypothyroidism was present in two patients and one had growth hormone deficiency. Two patients had an episode of thrombocytopenic purpura. Immunologic abnormalities were identified in three patients. Cytogenetic abnormalities of X chromosome were identified in two female patients. During the study, no one patient died. In adult patients, 3/4 had short stature, and, in patients with 10 years or more, 4/7 were obese. DISCUSSION: Most of our findings were compatible with the literature. The patients with X chromosome abnormalities presented characteristics of KS and Turners syndrome and we are not able to make an exact distinction if they have or not both diseases. CONCLUSION: KS has a wide clinical variability and the affected ones should be followed by a multidisciplinary clinic. Renal, cardiac, skeletal and immunological abnormalities are those with most morbidity related by the patients

Fundação Carlos Chagas Filho de Amparo a Pesquisa do Estado do Rio de Janeiro / O retardo mental (RM) é caracterizado por um funcionamento intelectual significantemente abaixo da média (QI<70). A prevalência de RM varia entre estudos epidemiológicos, sendo estimada em 2-3% da população mundial, constituindo assim, um dos mais importantes problemas de saúde pública. Há um consenso geral de que o RM é mais comum no sexo masculino, um achado atribuído às numerosas mutações nos genes encontrados no cromossomo X, levando ao retardo mental ligado ao X (RMLX). Dentre os genes presentes no cromossomo X, o Jumonji AT-rich interactive domain IC (JARID1C) foi recentemente identificado como um potencial candidato etiológico do RM, quando mutado. O JARID1C codifica uma proteína que atua como uma desmetilase da lisina 4 da histona H3 (H3K4), imprescindível para a regulação epigenética. Tão recente como a identificação do gene JARID1C, é a descoberta de que mudanças no número de cópias de sequências de DNA, caracterizadas por microdeleções e microduplicações, poderiam ser consideradas como razões funcionalmente importantes de RMLX. Atualmente, cerca de 5-10% dos casos de RM em homens são reconhecidos por ocorrerem devido a estas variações do número de cópias no cromossomo X. Neste estudo, investigamos mutações no gene JARID1C, através do rastreamento dos éxons 9, 11, 12, 13, 15 e 16, em 121 homens de famílias com RM provavelmente ligado ao X. Paralelamente, realizamos a análise da variação do número de cópias em 16 genes localizados no cromossomo X através da técnica de MLPA no mesmo grupo de pacientes. Esta metodologia consiste em uma amplificação múltipla que detecta variações no número de cópias de até 50 sequências diferentes de DNA genômico, sendo capaz de distinguir sequências que diferem em apenas um nucleotídeo. O DNA genômico foi extraído a partir de sangue periférico e as amostras foram amplificadas pela técnica de PCR, seguida da análise por sequenciamento direto. Foram identificadas três variantes na sequência do gene JARID1C entre os pacientes analisados: a variante intrônica 2243+11 G>T, que esteve presente em 67% dos pacientes, a variante silenciosa c.1794C>G e a mutação inédita nonsense c.2172C>A, ambas presentes em 0,82% dos indivíduos investigados. A análise através do MLPA revelou uma duplicação em um dos pacientes envolvendo as sondas referentes ao gene GDI1 e ao gene HUWE1. Este trabalho expande o estudo de mutações no gene JARID1C para a população brasileira ereforça a importância da triagem de mutações neste gene em homens portadores de RM familiar de origem idiopática, assim como, é primeiro relato científico relativo à investigação de variações no número de cópias de genes localizados no cromossomo X em homens brasileiros com RM, através da técnica de MLPA. / Mental retardation (MR) is defined as a disability characterized by significant below average intellectual functioning (IQ>70). The prevalence of MR varies between epidemiological studies, estimated at 2-3% of the population, thus constituting a major public health problem. There is a general consensus that MR is more common in males, a finding attributed, in part, to mutations in the genes located on the X chromosome, leading to an X-linked mental retardation (XLMR). Among all the genes present on X chromosome, Jumonji AT-rich interactive domain IC (JARID1C) was recently identified as aetiologic potential candidate of MR, when mutated. The JARID1C gene encodes a protein that acts as a histone demethylase specific for histone 3 lysine 4 (H3K4) and it is indispensable for the epigenetic regulation. As recently as the identification of the JARID1C gene, it is the discovery that changes in the number of copies of DNA sequences, characterized by microdeletions and microduplications, could be regarded as functionally important reasons to XLMR. Currently, about 5-10% of men MR cases are known to occur due to these variations in the number of copies of chromosome X. In this study we investigated mutations in the JARID1C gene by screening of exons 9, 11, 12, 13, 15 and 16 in 121 patients from families with X-linked MR. At the same time we analyzed the variation in the number of copies in 16 genes located in X chromosome through the MLPA technique. This metodology consists of a multiplex amplification that detects variations in the number of copies up to 50 different genomic DNA sequences, being able to distinguish sequences that differ by only one nucleotide. Genomic DNA was extracted from peripheral blood and the samples were amplified by PCR followed by direct sequencing analysis. We identified three sequence variants among 121 patients. The intronic variant c.2243 +11 G> T, which was present in 67% of patients analyzed, the silent variant c.1794C> G and the novel nonsense mutation c.2172C> A, which was present in 0,82% of patients analyzed. The MLPA analysis revealed that the patient 58 exhibited a duplication involving probes for the GDI1 gene and the HUWE1 gene, resulting in an increase in the number of copies of this gene. This work expands the study of mutations in the JARID1C gene for the Brazilian population and reinforces the importance of screening for mutations in this gene in men with idiopathic mental retardation, and it is the first scientific report on the investigation of variations in the number of copies in genes located on chromosome X in Brazilian men with MR using the MLPA technique.

INTRODUÇÃO: A síndrome de Kabuki (SK) é uma doença genética de etiologia desconhecida, cujas características cardinais são: dismorfismos faciais, baixa estatura de inicio pós-natal, anomalias esqueléticas, déficit cognitivo e alteração de dermatóglifos. Já foram descritas alterações em outros órgãos e sistemas. O diagnóstico é clínico. OBJETIVOS: Descrever os achados clínicos, e a evolução clínica de pacientes com SK. CASUÍSTICA E METODOLOGIA: Foram estudados 12 pacientes, oito do sexo feminino e quatro do sexo masculino, onde foram realizados: anamnese, exame físico, revisão de prontuário, avaliação cardiológica e odontológica, exames de imagem e laboratoriais. RESULTADOS: Todos pacientes tinham: face típica, déficit cognitivo, alterações esqueléticas e persistência de padrão fetal em coxins digitais. As alterações esqueléticas mais freqüentes foram: braquidactilia do quinto dedo, frouxidão ligamentar e luxação de quadril. A baixa estatura foi encontrada em 8/12 pacientes. Oito apresentavam ausência de dentes. Alterações oftalmológicas foram identificadas em sete. Na avaliação da audição, três tinham otites e dois, perda auditiva. Cinco pacientes apresentaram doenças respiratórias. Três pacientes apresentavam cardiopatias, e uma tinha somente alteração eletrocardiográfica. Seis pacientes tiveram dificuldades alimentares nos primeiros anos de vida e cinco, refluxo gastroesofágico. Três pacientes tinham anomalias renais, dois apresentaram enurese noturna e dois criptorquidia. Hipotonia estava presente em cinco pacientes e convulsões em quatro. Hipotireoidismo estava presente em duas pacientes e uma paciente tinha deficiência de hormônio de crescimento. Dois pacientes relataram um episódio de púrpura trombocitopênica. Alterações imunológicas foram identificadas em três pacientes. Anomalias do cromossomo X foram identificadas em duas pacientes. Nenhum paciente faleceu durante o estudo. Dos pacientes com mais de 18 anos, 3/4 tinham baixa estatura e nos pacientes com mais de 10 anos 4/7 tornaram-se obesos. DISCUSSÃO: A maioria de nossos achados foi compatível com a encontrada na literatura. As pacientes com alterações no cromossomo X, apresentavam características de SK e síndrome de Turner, não podendo descartar ou confirmar a coexistência destas duas doenças. CONCLUSÕES: a SK apresenta uma grande variabilidade clínica, devendo seus portadores, ter suporte multidisciplinar. As anomalias renais, cardíacas, imunológicas e esqueléticas, foram responsáveis pelas principais complicações clínicas relatadas / INTRODUCTION: Kabuki syndrome (KS) is a genetic disease which cardinal manifestations are: facial dysmorfism, short stature of postnatal onset, skeletal abnormalities, mental retardation and abnormal dermatolyphics. Beside these manifestations, abnormalities of every organ system, has been described. The diagnosis is clinical. OBJECTIVES: The objective is to describe the clinical manifestations and the follow-up of patients with Kabuki syndrome. PATIENTS AND METHODS: Twelve patients were studied, eight female and four male, not related, in which anamnesis, physical examination, review of their clinical records, odontological and ophthalmological evaluation, radiological and laboratorial tests, were performed. RESULTS: All patients have: typical face, mental retardation, skeletal abnormalities and presence of fingertip pads. Short stature was present in 8/12 patients. The most frequent skeletal abnormalities were: short fingers, hypotony and hip dislocation. Eight patients have absence of teeth. Ophthalmologic abnormalities were found in seven patients. On hearing evaluation, three patients have recurrent otitis and hearing lost was identified in two patients. Apnea and laryngo malacia was present in one patient. Three patients presented congenital cardiopathy and one patient without cardiopathy had an anomaly at electrocardiography. At the first years of life, six patients had feeding difficulties, with one whom needed a gastrostomy tube and five had gastroesofageal reflux. A kidney and urinary tract malformation was found in three patients, two had nocturnal enuresis, and two had undescended testis. Hypotonia was present in five patients and four reported seizures. Hypothyroidism was present in two patients and one had growth hormone deficiency. Two patients had an episode of thrombocytopenic purpura. Immunologic abnormalities were identified in three patients. Cytogenetic abnormalities of X chromosome were identified in two female patients. During the study, no one patient died. In adult patients, 3/4 had short stature, and, in patients with 10 years or more, 4/7 were obese. DISCUSSION: Most of our findings were compatible with the literature. The patients with X chromosome abnormalities presented characteristics of KS and Turners syndrome and we are not able to make an exact distinction if they have or not both diseases. CONCLUSION: KS has a wide clinical variability and the affected ones should be followed by a multidisciplinary clinic. Renal, cardiac, skeletal and immunological abnormalities are those with most morbidity related by the patients

This diploma thesis focuses on the topic of problematic behaviour of pupils with autism and medium mental retardation in an educational process. The main aim of this work is to learn about and describe teaching staff's experience with the occurrence and ways of handling problematic behaviour of these pupils. The theoretical part describes the basic terms related to autism, mental retardation and it also outlines a historical context of autism, etilogy, its classification and characteristic symptoms. The thesis also focuses on the diagnostic process in the psychological and pedagogical diagnostics, an overview of basic obligatory diagnostic tools is provided. It deals with the legislative framework of the education of pupils with autism and medium mental retardation, it describes the most common educational methods and therapeutic approaches in special schools. Next chapter defines the term problematic behaviour, outlines the diagnostic evaluations and some specific approaches to correcting such behaviour. The practical research part is based on the qualitatively-oriented methodology and it works with data gained from 11 semi-structured interviews with the school deputy directors, special pedagogues - teachers, assistant teachers - educators from three elementary schools separately established for...

Texas houses the largest number of school-aged individuals with intellectual disabilities in state-administered institutions than any other state in the nation. Despite current conditions of legal and procedural constraints on such placements, the number of admissions of school-aged individuals has been increasing in recent years. Prior to conducting this study, a review of literature was completed, which provided an historical overview of the care for people with intellectual disabilities, the damaging effects of institutionalization in all areas of child development, and the reasons for placement of children with intellectual disabilities in institutions was completed. The purpose of the study was to gain an understanding of the decision-making processes involved in the placement of individuals under the age of 22 in Texas state supported living centers and the community services determined as necessary. Surveys were distributed to five groups of individuals who are typically involved in the decision-making process: parents of current residents under age 22 of state supported living centers, Local Authority interdisciplinary team members, local Community Resource Coordination Group interagency members, local County Judges, and the Directors of the state supported living centers. A sixth group surveyed included parents who sought placement for their child in the institution, but accepted Medicaid waiver-funded community-based services instead. Although the families expressed a strong commitment to keep their family member at home as long as possible, the results indicate that the Local Authority for intellectual disability services influences the majority of families' decisions to place their child in the institution as well as a severe lack of appropriate, adequate and accessible community-based services to meet the needs of families. Both parent groups rated improved public school and personal attendant services as the most necessary for the prevention of out-of-home placement. The availability of behavior supports and respite services were viewed by both the parents and the professionals as important in preventing out-of-home placement. / text

Στην παρούσα διπλωματική εργασία, εκτιμώνται τα πλεονεκτήματα που παρέχουν οι βοηθητικές τεχνολογίες, όπως είναι τα εικονικά περιβάλλοντα, για προγράμματα σπουδών σε μαθητές με ελαφρά νοητική καθυστέρηση. Επίσης, μελετώνται οι αντιληπτικές και χωρικές ικανότητες παιδιών με νοητική καθυστέρηση συγκριτικά με αυτές των παιδιών τυπικής ανάπτυξης, χρησιμοποιώντας μία εφαρμογή εικονικής πραγματικότητας. Για την διερεύνηση των παραπάνω, πραγματοποιήθηκε μία ερευνητική διαδικασία αποτελούμενη από δύο φάσεις. Η πρώτη φάση συνίσταται σε μία πιλοτική εφαρμογή του προγράμματος εικονικής πραγματικότητας, όπου ζητήθηκε από μία ομάδα 10 ατόμων, ηλικίας 16-23 ετών, να το αξιολογήσουν ώστε να επιτραπεί η χρήση του στην επόμενη φάση. Η δεύτερη φάση περιέχει την κυρίως έρευνα, όπου συμμετέχουν δύο ομάδες παιδιών, η μία εκ των οποίων αποτελείται από παιδιά με νοητική καθυστέρηση, ενώ η άλλη από παιδιά τυπικής ανάπτυξης. Τα υποκείμενα των δύο ομάδων εξερεύνησαν το εικονικό περιβάλλον και εν συνεχεία αξιολογήθηκαν σε κάποια έργα χωρικής μνήμης και χωρικής αντίληψης. Τέλος, αξιολογήθηκε ο προσανατολισμός, η λεπτή κινητικότητα και κάποια άλλα χαρακτηριστικά της συμπεριφοράς των υποκειμένων. Βάσει των δεδομένων που προέκυψαν από την ερευνητική διαδικασία, εξήχθησαν συμπεράσματα για τα παραπάνω, τα οποία παρουσιάζουν τα παιδιά με νοητική καθυστέρηση να μειονεκτούν έναντι των παιδιών τυπικής ανάπτυξης. / The following research paper, which serves as a part of the Departments requirements leading to a Bachelor’s Degree, unfolds its goal and objectives into phases. The goal of this endeavor is to present the advantages that assistive technologies, such as Virtual Environments, offer to students with mental retardation. In addition, the conceptual and spatial abilities of mentally retarded children are examined, comparatively with the abilities of nonretarded children using an application of virtual reality. In order to investigate the above, a two-phase research had taken place. In the first phase, that is a pilot test, a group of ten subjects, 16-23 years old, evaluated this application in order to be possible to use the application in the next phase. The second phase involves the basic research, where two groups of children, one of mentally retarded children and one of nonretarded children, took part. The subjects of these two groups explored the virtual environment and afterwards they completed tests of spatial memory and spatial cognition. In the end, the orientation, the “delicate mobility” (the ability to handle small objects) and some other characteristics of the children’s behavior were assessed. On the basis of the data that emerged from the research procedure, there were extracted conclusions that indicate that mentally retarded children are deficient against nonretarded children.

No description available.