[pt] Fortemente presente na trajetória humana, a música sempre teve lugar de honra como a linguagem das emoções. Esta dissertação teve como objetivo ampliar esse conceito e refletir a respeito de tal linguagem em sua potência desveladora de sentidos, especialmente na clínica do adulto com deficiência. Para tanto, discutiu o papel da produção musical dos pacientes como manifestação legítima de conteúdos cognitivos, estéticos, culturais, de vivências e comunicacionais, sendo a música uma possibilidade concreta e possível desses adultos lerem a realidade - e, interagindo, se colocarem nela. Questões como desenvolvimento humano e deficiência, musicoterapia, linguagem e improvisação musical fizeram parte de uma fundamentação teórica que, dentro da clínica do adulto com deficiência, validou as premissas de integração e organização de que esse adulto precisa. A conclusão a que se chegou foi a de que, tendo seus objetivos contemplados e com os resultados analisados criticamente, a pesquisa cumpriu com sua prerrogativa do tratamento terapêutico da música como potencialmente promissora de manifestação de conteúdos internos. Além disso, novas propostas foram pensadas visando otimizar não só o trabalho terapêutico com música como propiciar a essa população uma vivência que se queira libertadora, marcada pela criatividade expressiva e pelo prazer. / [en] Strongly present in human trajectory, music has always had its place of honor as the language of emotions. This dissertation aimed to amplify this concept and ponder about said language in its potential of sense unveiling, particularly in the treatment of adults with deficiency. This work discussed the role of the patients musical production as legit manifestation of cognitive, aesthetic, cultural, life and communication content, with music being a concrete possibility for these adults to read into reality - and, as interactive players, to put themselves in it. Questions such as human development and deficiency, music therapy, language and musical improvisation were part of a theoretical foundation which, inside the clinic of the adult with deficiency, validated the premises of integration and organization needed by this adult. The conclusion that resulted from this study is that, with its intended objectives and having the results critically analyzed, the research fulfilled its prerogative of music as therapeutic treatment and potentially promising of manifesting internal content. Furthermore, new ideas were thought out in order to optimize not only the therapeutic work with music but also provide to this population a freeing experience marked by expressive creativity and pleasure.

Magister Curationis - MCur / The study explores the experiences of nurses who care for severe/profound intellectual disabled patients at Level 3 Psychiatric Hospital in Cape Town. People with severe intellectual disabilities require constant care and supervision which can only be provided in specialised units. In the Western Cape, one such facility is a special section for the intellectually disabled at a level three hospital. Intellectual disability is a serious lifelong disability that places a heavy burden on affected individuals. Caring for these patients may affect the individuals who work within the intellectual disability services. This study explores the experiences of nurses who care for these patients. A Phenomenological research design was chosen as the researcher identified it as the most appropriate method to describe the lived experiences of the nurses. Purposive sampling was used to select 10 participants. However, data saturation was reached after interviewing eight participants. Data was collected through in-depth unstructured interviews. The audio-taped responses were transcribed verbatim and phenomenological data analysis done. Ethical clearance was obtained from the Higher Degrees Committee of the University of the Western Cape. Permission to do the research at the level three hospitals was sought from the Associated Psychiatric Hospital Committee. Consent to participate in the study was obtained from the participants, and ethical principles were adhered to. Participants were informed of the right to withdraw at any stage of the study and intervention offered when required. Trustworthiness of the research process was ensured. Findings: from this study the nurses who care for severe/profound intellectual disabled patients reported that they were not adequately prepared to care for these patients. It has also been reported that caring for the severely/profound disabled comes with some consequences, where emotional (negative and positive), physical and professional consequences were mentioned. The shortage of resources was found to be one of the challenges the nurses experienced. The nurses felt unappreciated for the work they did and less supported by their employer.

Lorsque l’on entend parler d’un crime ou d’un acte de violence, les premières questions que nous nous posons concernent généralement l’auteur et la victime de l’infraction puis l’acte qui a été commis. Au regard des taux élevés de victimisation des personnes handicapées, il semble pertinent et important de s’interroger sur la façon dont le handicap est appréhendé dans le domaine de la justice. Cette thèse se situe à l’intersection de trois domaines différents que sont la psychologie sociale, le handicap et la criminologie. Son but principal est d’examiner l’influence du handicap face à une situation infractionnelle, que la personne handicapée soit auteure ou victime de l’infraction. Pour cela, cinq études combinant les approches descriptives et expérimentales ont été réalisées. Les deux premières recherches portent sur l’analyse d’archives judiciaires (violences conjugales et vols avec violence), avec pour objectif la comparaison de différents facteurs (individuels, familiaux, sociaux et légaux) entre les situations avec ou sans handicap. Trois études expérimentales ont été menées afin de déterminer l’effet de la présence d’un handicap et du type de handicap (moteur, mental, psychique) sur l’attribution de responsabilité des protagonistes, ce qui est ressenti lorsqu’une infraction est commise ainsi que sur les actions pouvant être entreprises. Les résultats indiquent une relative similarité des facteurs entre les archives judiciaires qu’il y ait ou non présence d’un handicap. Ceux des études expérimentales montrent un effet de la présence d’un handicap ainsi que du type de handicap sur les taux de responsabilité et sur ce qui est ressenti. L’implication de ces résultats est discutée d’un point de vue théorique et pratique. / When we hear about a crime or an act of violence, the first questions we ask ourselves concern generally the author and the victim then the act which was committed. With regard to the high rates of victimization of the disable people, it seems relevant and important to investigate how disability is apprehended in the field of justice. This thesis is situated at the intersection of three different domains that are social psychology, handicap and criminology. Its main purpose is to examine the influence of disability in the face of an unlawful situation that the disabled person is the author or the victim of the offense. Five research combining descriptive and experimental approaches have been made. The first two studies focus on the analysis of court records (domestic violence and thefts with violence), with the aim comparison of different factors (individual, family, social and legal) between the situations with and without disabilities. Three experimental studies were conducted to determine the effect of the presence of a disability and the type of disability (physical, intellectual, mental) on the attribution of responsibility of the protagonists, what is felt when an offense is committed and on possible actions. The results indicate a relative similarity factors between the judicial archives whether or not the presence of a disability. Those of the experimental studies show an effect of the presence of a disability as well as the type of disability on rates of responsibility and on what is felt. The implication of these results is discussed from a theoretical and practical perspective.

Protein palmitoylation refers to the process of adding a 16-carbon saturated fatty acid to the cysteine of a substrate protein, and this can in turn affect the substrate’s localization, stability, folding, and several other processes. This process is catalyzed by a family of 23 mammalian protein acyltransferases (PATs), a family of transmembrane enzymes that modify an estimated 10% of the proteome. At this point in time, no structure of a protein in this family has been solved, and therefore there is poor understanding about the regulation of the enzymes and their substrates. Most proteins, including palmitoylation enzymes and substrates, have some level of intrinsic disorder, and this flexibility can be important for signaling processes such as protein- protein interactions and post-translational modifications. Therefore, we assumed that examining intrinsic disorder in palmitoylation enzymes and substrates would yield insight into their regulatory mechanisms. First, we found that among other factors, utilizing intrinsic disorder predictions led to a palmitoylation predictor that significantly outperformed existing predictors. Next, we discovered a conserved region of predicted disorder-to-order transition in the disordered C-termini of the PAT family. In Erf2, the yeast Ras PAT, we developed a model where this region reversibly interacts with membranes, and we found that this region mediates interaction with Acc1, an enzyme involved in fatty acid metabolism processes. Finally, we found that an XLID-associated nonsense mutation in zDHHC9, the mammalian Ras PAT, removed a disordered region that was critical for enzyme localization. Future studies of palmitoylation utilizing the framework of intrinsic disorder may lead to additional insights about this important regulatory process.

Orientadores: Antonia Paula Marques de Faria, Maricilda Palandi de Mello / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-30T05:34:46Z (GMT). No. of bitstreams: 1 Henrique_PamelaPontes_M.pdf: 8320960 bytes, checksum: 1d8ff3e1253bf81cc18b4afd51572860 (MD5) Previous issue date: 2015 / Resumo: A deficiência intelectual ligada ao X (DILX) é uma das causas genéticas mais frequentes de deficiência intelectual (DI), ocorrendo em 10 a 12% de todos os homens afetados, provavelmente pelo maior número de genes identificados no cromossomo X em comparação a qualquer segmento autossômico. Cerca de 100 genes seriam determinantes de DILX, porém mesmo com o conhecimento do papel de vários deles, há aspectos a serem elucidados, como a contribuição de cada um na determinação da DI ou ainda as correlações genótipo-fenótipo, cuja análise depende da investigação genética em indivíduos com DI idiopática. Entre os métodos que permitem a investigação molecular dessa condição destaca-se a Multiplex Ligation-dependent Probe Amplification (MLPA) por sua rapidez, sensibilidade e baixo custo. O objetivo do presente estudo foi investigar alterações em genes do cromossomo X pela técnica de MLPA em pacientes do sexo masculino com atraso global do desenvolvimento ou DI de origem indeterminada. Foram investigados 107 indivíduos com o kit SALSA MLPA P106 MRX probemix (MRC-Holland), 104 deles apresentaram resultado na faixa de normalidade e em três foram identificadas alterações do número de cópias interpretadas como duplicações. O paciente P13 apresentou alteração no gene HUWE1, que atua no controle da diferenciação neural e tem mutações descritas em algumas famílias com DI de moderada a grave; no paciente P139 foram identificadas alterações nos genes SCL6A8 e GDI, ambas confirmadas pela análise por Real Time Polymerase Chain Reaction (qPCR); mutações no primeiro são incluídas entre as síndromes de deficiência de creatina, com fenótipos variando de DI leve e atraso de fala até DI grave, convulsões e alterações de comportamento no sexo masculino, enquanto no segundo se associam à DILX inespecífica; já no paciente P39 foi detectada alteração no gene ARX, relacionado a mais de uma condição classificada como DILX sindrômica, que não foi confirmada. Como apenas alguns éxons relacionados à DILX foram investigados, não se afasta a eventual ocorrência de rearranjos localizados em regiões não abordadas pelo kit utilizado. Contudo, a técnica utilizada se mostrou uma opção de custo relativamente baixo e fácil reprodutibilidade, sendo viável para aplicação em algoritmos de investigação da DI. Os resultados reforçam a relevância da DILX entre as causas de DI, justificando a inclusão de testes moleculares específicos para a elucidação diagnóstica dessa condição / Abstract: X-linked intellectual disability (XLID) is one of the most frequent genetic causes of intellectual disability (ID), occurring in 10-12% of all affected men, probably because the larger number of identified genes on the X chromosome related to this condition than in any other autosomal segment. Although about 100 genes have been considered as determinant of XLID, the the role of several of these genes remains yet be elucidated despite the knowledge on the function of several of them. For instance, the contribution of each gene in determining the ID and the genotype-phenotype correlation depend on the genetic investigation of affected individuals. The Multiplex Ligation-dependent Probe Amplification (MLPA) is among the methods that allow molecular investigation of this condition because it is rapid and low cost and presents high sensitivity. The aim of this study was to investigate copy number variations in X-linked genes by MLPA technique in males with global developmental delay or ID of undetermined origin. A hundred and seven individuals were investigated using SALSA MLPA P106 MRX kit (MRC-Holland) and alterations were confirmed by Real Time Polymerase Chain Reaction (qPCR). A normal invariant pattern was observed in 104 out of 107 individuals, and three showed variations that have been interpreted as duplications. Patient P13 showed increased signal for HUWE1 gene, which plays a role in the control of neural differentiation. HUWE1 mutations have been described in families with moderate or severe ID. Patient P139 showed increased signals corresponding to regions of SCL6A8 and GDI1 genes. The former is included among genes involved in the creatine deficiency syndrome whose phenotype can range from mild ID and speech delay to severe ID, convulsions and behavior changes in males, and the latter is involved with non-syndromic XLID. Conversely, the variation in ARX gene, which is associated to more than one condition classified as syndromic XLID, observed in MLPA analysis for patient P39 was not confirmed in the qPCR assay. As only a few exons related to XLID were investigated, it does not rule out the possible occurrence of rearrangements located in regions not covered by the kit used. However, the technique employed was an easily reproducible, relatively low cost option, manageable for application in ID research algorithms. The results reinforce the importance of XLID among the causes of ID, justifying the inclusion of specific molecular tests for the laboratory diagnosis of this condition / Mestrado / Ciencias Biomedicas / Mestra em Ciências Médicas

The purpose of the study is to contribute knowledge of some primary schools’ principals and special schools’ principals views on the inclusion of pupils with intellectual disabilities in the activities of primary school. To collect data to the study, we have chosen to use a qualitative research interview as a method. The study is based on the views of 12 primary school principals and special school principals regarding the inclusion of pupils with intellectual disabilities in the activities of primary school. To analyze the results, we use the framework factor theory, which is based on the idea that frames provide room for a process, which is based on the purpose of the study can be seen as the possibilities and conditions given for inclusion work. The result shows that the informants generally have a similar view on the concepts of integration and inclusion, however, the majority of the informants state that the consensus on inclusion work is generally poor at schools. Success factors the informants raise regarding the inclusion of pupils with learning disabilities in the activities of primary school, among other things, the teacher’s competence, consensus, and collaboration. The result also shows that the informants have internal and external frames to relate to. Examples of internally impactful frameworks are the content of working hours and skills development as well as how the school should be managed and structured. Examples of external unaffected frameworks are governance documents, finances and working time agreements. The conclusion we can draw from the study is that the inclusion of pupils with learning disabilities in the activities of primary school is difficult and complex. The informants have great opportunities to influence the inclusion work, which leads to both opportunities and challenges. One challenge that the result shows is the lack of time in the work of inclusion. / Studiens syfte är att bidra med kunskap om några grundskole - och grundsärskolerektorers uppfattningar om inkludering av grundsärskoleelever i grundskolans verksamhet. För att samla in data till studien har vi valt att använda oss av en kvalitativ forskningsintervju som metod. Studien bygger på 12 grundskole- och grundsärskolerektorers uppfattningar gällande inkludering av grundsärskolans elever i grundskolan.  För att analysera resultatet använder vi oss av ramfaktorteorin som bygger på tankegången att ramar ger utrymme för en process, vilket utifrån studiens syfte kan ses som de möjligheter och förutsättningar som ges gällande inkluderingsarbetet.  Resultat visar att informanterna har liknande syn på begreppen integrering och inkludering, däremot fastslår flertalet av informanterna att samsynen kring inkluderingsarbetet överlag är dålig på skolorna. Framgångsfaktorer informanterna lyfter gällande inkludering av grundsärskolans elever i grundskolan är bland annat lärarnas kompetens, samsyn och samverkan. Resultatet visar också att informanterna har inre och yttre ramar att förhålla sig till. Exempel på inre påverkningsbara ramar är arbetstidens - och kompetensutvecklingens innehåll samt hur skolan ska ledas och struktureras. Exempel på yttre opåverkningsbara ramar är styrdokument, ekonomi och arbetstidsavtal. Slutsatsen vi kan dra utifrån studien är att inkludering av grundsärskoleelever i grundskolan är svårt och komplext. Informanterna har stora möjligheter att påverka inkluderingsarbetet vilket leder till både möjligheter och utmaningar. En utmaning som resultatet påvisar är tidsbristen i arbetet med inkludering.

Denna studies syfte är att beskriva socialsekreterares upplevelse av utredningsarbetet när en eller båda föräldrarna har en intellektuell funktionsnedsättning. För att svara på studiens syfte har vi intervjuat sex socialsekreterare som arbetar med och har erfarenhet av föräldrar med en intellektuell funktionsnedsättning. Studiens empiriska material bygger på en kvalitativ semistrukturerad intervjuform. Studiens insamlade datamaterial har analyserats med hjälp av tidigare forskning samt socialkonstruktionism och stigma som är studiens två teoretiska perspektiv. Resultatet är uppdelat i två huvudtema, vilka är Föräldraförmåga och Utredningsarbete. Huvudtema A har två underteman och huvudtema B har tre underteman. Studiens resultat visar att samtliga av de intervjuade socialsekreterarna upplever att barnets bästa är ett komplext begrepp, då varje barn är unikt med unika behov. Resultatet visar även att det kan finnas svårigheter för en förälder med en intellektuell funktionsnedsättning att tillgodose sitt barns behov, men att det inte är knutet till den intellektuella funktionsnedsättningen utan alla bedömningar måste göras individuellt. / The purpose of this study is to describe the social secretary's experience of investigation work when one or both parents have an intellectual disability. To answer the study's purpose, we interviewed six social secretaries who work with and have experience with parents with an intellectual disability. The empirical material of the study is based on a qualitative semi-structured interview form. The study's collected data has been analyzed using previous research on social constructionism and stigma, which provide the study's two theoretical perspectives. Result are divided into two main themes: parental ability and investigation work. Main theme A has two sub-themes and main theme B has three sub-themes. The study shows that all of the interviewed social secretaries feel that the child's best interests are a complex concept, since each child is unique with unique needs. It may be difficult for a parent with an intellectual disability to meet their child's needs, but that this is not directly linked to the intellectual disability, therefor all assessments must be made individually.

Thesis (M.A. (Clinical Psychology)) -- University of Limpopo, 2017 / Caring for children with intellectual disability often results in stressful experiences for caregivers, even leading to crises in some cases. The aim of the present study was to explore the lived experiences of teachers of intellectually disabled learners in three special schools in Capricorn District, Limpopo Province. The study sought to determine teachers’ understanding of intellectual disability, the challenges they face in working with such children, and the psychological strategies they use to deal with intellectually disabled learners. The study was qualitative in nature. The sample consisted of 9 participants (male=0; females=9) working with intellectually disabled learners in special schools who were selected through a non-probability purposive sampling technique. Data was collected through semi-structured interviews and analysed using the interpretive phenomenological analysis. An understanding of intellectual disability as denoting deficits in such learners’ brains, preventing their optimum functioning was common. The findings of the study show that the experience of teachers of children with intellectual disability was fairly positive. It was characterised by feelings of fulfilment and contentment. Nonetheless, challenges such as burn out, stigma and lack of parental and government support were also revealed in the study. Essentially, the study recommends workshops on effective coping strategies for the teachers, and public awareness campaigns in communities about intellectual disability, amongst others.

Increasingly, researchers have successfully identified strategies to promote comprehension to students who are nonreaders. Further research is needed to replicate these promising results. In the current study, we used a multiple probe across participants design to evaluate the effectiveness of an iPad app, which incorporates evidence-based practices such as constant time delay and system of least prompts, on the acquisition of targeted vocabulary and comprehension of four middle school students with significant intellectual and developmental disability (SIDD). Findings suggest that the intervention resulted in improved performance across all participants and that some generalization and maintenance of skills was seen. Limitations and implications for practice and future research are discussed.

KEY WORDS Down syndrome, Language, Verbal Communication, Non-verbal Communication, Intellectual Disability, Bilingualism Homolková, Kamila (2021). Process of Verbal and Nonverbal Communication of a Child with Down Syndrome [dissertation thesis]. Charles University (Prague, Czech Republic), Faculty of Arts, Institute of Czech Language and Theory of Communication. ABSTRACT This dissertation thesis focuses on the process of development of verbal and nonverbal communication of a child with the Down syndrome. Its goal is to analyse, how language and speech are acquired in this atypically developing child, and on this base, supported by findings from previous published research, to describe the acquisition of all language levels - semantics, comprehension, pragmatics, and nonverbal means of communication. One part of this thesis is formed by an analysis of the bilingual (Czech and German) situation of the child. The main method employed is a longitudinal observation of early communication behaviour of the child (in the age from 24 to 48 months) and an analysis of video recordings; the parents' diaries are used as well.