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Made available in DSpace on 2016-03-15T19:40:37Z (GMT). No. of bitstreams: 1 Aline Helen Correa Garcia.pdf: 980441 bytes, checksum: 43fff507ceb0e88ebcf821770349257e (MD5) Previous issue date: 2008-11-06 / Fundo Mackenzie de Pesquisa / Pervasive Developmental Disorders are characterized by deficiency in three areas: communication, social interaction, repetitive and stereotypical behavior from causes not yet fully known. Evidences have suggested that autism possesses a significant genetic component from a complex multifaceted heredity with a multiloci model of interaction. Several experimental techniques and models have been utilized in order to assess the activity, expression and the alelo association of theTIDs as illnesses with a genetic component. The role of the 5HTT serotonin renders the genes of the serotonin-energetic system of interest for the study of the pathology of autism. Our work obtained and analyzed the DNA from periferic blood samples of 50 subjects diagnosed with PDD for the polymorphism T102C of the 2ª receptor of serotonin (HTR2A) comparing the results to a control population of 206 individuals, separated by both sex and racial background. The cases were analyzed through the ASQ and ABC instruments according to a greater susceptibility to repetitive and stereotyped behaviors. RESULTS: There was no significant statistical evidence for the distribution of the genotypes either in the cases (qui-quadrado=2,967/2GL/p= 0,2268) or in the control. However, it was observed a large prevalence of the heterozygote genotype among the cases (64%) while in the control this genotype was present in 50% of the individuals. Also the genotypical occurrences did not demonstrate any difference when the subjects, cases and control, were divided by sex and racial background as white and non-white. Regarding the number of stereotypes, in the ASQ as well as in the ABC, there was no difference in the genotype distribution. The sample was in accordance to the Hardy-Weiberg equilibrium. / Os Transtornos Invasivos do Desenvolvimento têm como características deficiência em três domínios: comunicação, interação social e comportamentos repetitivos e estereotipados de causas ainda não bem conhecidas. Evidências têm sugerido que o autismo tem um grande componente genético de herança multifatorial complexa com modelo de interação multiloci. Várias técnicas experimentais e modelos para avaliar a atividade, expressão e alelo associação dos TIDs, enquanto doenças com algum componente genético, têm sido usados. As funções da serotonina 5HTT, tornam os genes do sistema serotoninérgico como de interesse para estudo da patologia do autismo. O nosso trabalho extraiu e analisou o DNA do sangue periférico de 50 portadores de transtornos invasivos do desenvolvimento para o polimorfismo T102C do receptor 2A da serotonina (HTR2A) comparando os resultados com uma população controle de 206 indivíduos, ambos separados por sexo e antecedentes raciais. Os casos foram analisados pelos instrumentos ASQ e ABC quanto a maior susceptibilidade para comportamentos repetitivos e estereotipados. Resultados: Não houve evidência estatística significativa para a distribuição dos genótipos, tanto nos casos (qui-quadrado=2,967; 2GL; p=0,2268) como nos controles. Contudo foi observada a grande predominância do genótipo heterozigoto entre os casos (64%) enquanto que nos controles este genótipo foi evidenciado em 50% dos indivíduos. Não houve evidência estatística significativa para a distribuição dos genótipos, tanto nos casos (qui-quadrado=2,967; 2GL; p=0,2268) como nos controles. As freqüências genotípicas também não mostraram diferença quando os sujeitos caso e controle foram estratificados por sexo e antecedentes raciais branco e não branco. Quanto ao número de estereotipias, tanto no ASQ quanto no ABC, não houve diferença na distribuição do genótipo. A amostra estava em equilíbrio de Hardy-Weiberg.

A presente pesquisa teve como objetivo verificar a existência de alterações visopercepto- motoras em pacientes com a síndrome de Asperger ou T.I.D. (Transtorno Invasivo do Desenvolvimento). Para tal, foi desenhado um estudo com dois grupos de trinta sujeitos do sexo masculino entre 12 e 30 anos. Trinta desses sujeitos com a síndrome de Asperger, diagnosticados através dos critérios do DSM-IV-TR, Escala de Traços Autístiscos (ATA), apresentando QS maior ou igual a 70 através das Escalas de Comportamento Adaptativo de Vineland. Os desempenhos nas escalas foram estatisticamente estudados e comparados com os resultados dos trinta sujeitos com desenvolvimento normal. Ambos os grupos foram submetidos às provas de Imitação de Gestos de Bèrges & Lèzine, Piaget-Head, Bender, prova de Cubos das escalas Wechsler e Escala social de Pelotas. Todos os sujeitos foram submetidos aos testes relacionados de maneira padronizada. A escolha dos sujeitos e aplicação dos testes foi efetuada em escolas e centros clínicos especializados. As análises dos resultados demonstram diferenças significantes e déficit na organização perceptivo viso motora dos sujeitos com a síndrome de Asperger. A análise estatística por meio do t-independente, entre os dois grupos aponta para repostas discrepantes no grupo dos Aspergers com nível de significância (p0,05/0.05) evidenciando assim, melhor desempenho global em todas as escalas aplicadas nos sujeitos do grupo controle. A complexidade que envolve as noções de percepção espacial, motricidade e ação, bem como a lateralidade mostraram-se marcantes dificuldades na população estudada, sendo necessários novos estudos, prevenção, tratamento e orientações à família e escola / This study aimed to verify the existence of visual-perceptual-motor function changes in patients with Asperger syndrome or PDD (Pervasive Developmental Disorder). To that objective, a study was developed with two groups of thirty male between 12 and 30 years old. Thirty of these people with Asperger\'s syndrome, were diagnosed by the DSM-IV-TR, Autistics Stroke Scale (ATA), with QS greater than or equal to 70 through the Adaptive Behavior Scales Vineland. The performance scales were statistically analyzed and compared with the results of thirty people with normal development. Both groups were tested for Imitation of gestures Bèrges & Lèzine, Piaget-Head, Bender, Cubes proof of Wechsler scales and Pelotas social scale. All people were tested in a standardized way. The choice of the people and tests application had been performed in specialized schools and clinical centers. Analyses of results showed significant differences and deficits in visual motor perceptual organization of individuals with Asperger syndrome.Statistical analysis by T-independent between the two groups points to the differing responses of the Aspergers group with significance (p 0.05 / 0.05), thus emphasizing the better overall performance on all scales applied in the control group.The complexities surrounding the notions of spatial perception and motor action as well as the handedness proved remarkable difficulties in the population studied, being necessary new studies, prevention, treatment and guidance to family and school

This diploma thesis deals with the issue of written expression of pupils in relation to their region and the type of schools in which they are educated. It also deals with spelling skills of pupils with specific developmental disorders of scholastic skills. The theoretical part summarizes the findings relating to the development of writing skills. It describes two basic developmental models, as well as the diagnostics of spelling. The research part consists of two assessment methods such as the quantitative methodology and the qualitative research methods which summarize the level of spelling skills contained in the research sample. The diagnosis revealed that both of the assessment methods are reliable and comparable for the diagnosis of the specific developmental disorders of scholastic skills and their outputs. The research revealed lower scores amongst pupils in the region who were included in the conducted tests used for the research. This research helped to define similarities and differences in spelling skills between socially disadvantaged pupils and pupils with specific developmental disorders of scholastic skills. Keywords: specific developmental disorders of scholastic skills, dysorthographia, development of writing skills, spelling diagnostics, writing tests, social disadvantages

L'étude bibliographique des conséquences des troubles du développement de l'enfant sur la qualité de vie (QDV) de chacun de ses parents identifie de nombreux arguments en faveur d'un impact important mais montre l'insuffisance des connaissances actuelles en ce domaine et le manque d'outils d'évaluation validés en français. Pourtant le concept multidimensionnel de qualité de vie, dont l'usage est croissant, pourrait être particulièrement opérant pour déterminer les besoins des parents, principal support de l'enfant au développement troublé. Cette thèse décrit le processus de validation du Par-DD-qol, questionnaire d'auto-évaluation de l'altération de la qualité de vie parentale liée aux troubles de l'enfant. Le questionnaire (17 items) a été proposé aux 590 parents de 349 enfants avec troubles du développement du spectre autistique et non autistiques. Une approche complémentaire de la validité transnosographique a été effectuée auprès de 304 parents d'enfants sans troubles du développement et hospitalisés en pédiatrie. L'étude multitrait permet de déterminer 3 scores: total, adaptatif et émotionnel. Les résultats sont en faveur d'altérations plus importante de la QDV des parents d'enfants autistes comparativement à ceux d'enfants non-autistes et hospitalisés en pédiatrie. Ils montrent que ce questionnaire, court et utilisable en pratique clinique de routine, a de bonnes qualités psychométriques et peut permettre d'évaluer la qualité de vie de chacun des parents de façon indépendante. L'étude de sa validité de contenu, de la sensibilité au changement et d'une utilisation générique d'évaluation de la QDV parentale liée aux troubles de l'enfant demandent à être poursuivies. Les questions méthodologiques, le développement ultérieur possible, sont discutés ainsi que les implications pour la pratique clinique et le support des parents. / Parents are the main child support during development and have to cope with the developmental disorders of their child over the years. Most of them reported high levels of burden following their child’s diagnosis. The subjective, multidimensional concept of quality of life (Qol) could be operative to apprehend how the domains of parental life which have been impaired may decrease the parents' abilities to cope with the main needs of their child. However the widespread use of the Qol concept contrasts with the lack of validated tools and studies about this issue. Our aim was to validate the Par-DD-qol, a French questionnaire devised in order to assess the impairments of parental quality of life.The 17 item self rated questionnaire was completed by 590 parents of 349 children with developmental disorders (autistic and non autistic). An additional approach of the cross-diagnostic validity was made with 304 parents of children without developmental disorders and hospitalized in paediatrics. Three scores were identified: emotional score, adaptative score and global score. The main psychometric features are presented. This short questionnaire has good psychometric qualities and could be helpful in routine clinical care. It is not specific and could allow comparative studies..The study of the content validity, the responsiveness and cross-diagnostic validity needs further development. Methodological and therapeutic issues, implications for improvement of family support are discussed.

No description available.

Les élèves des écoles maternelles et élémentaires sont évalués. En cas de suspicion de troubles des apprentissages, ils sont adressés dans une unité d'évaluations pour une expertise médicalisée. Cette recherche porte sur la manière dont ce dispositif a pris place dans celui de l'école dans le but de traiter ces éventuels troubles des apprentissages. Car, ces enfants semblent enlisés dans des procédés d'apprentissages repérables chez des enfants de maternelle et de cours préparatoire. Les apports de la psychologie du développement nous permettent de les décrire, mais ne nous éclairent pas sur l'articulation entre les développements cognitif et affectif. C'est donc au regard des apports de la psychopathologie clinique et de la psychanalyse, en nous appuyant sur des études de cas, que nous traitons de ces problématiques interférant sur les apprentissages scolaires. À partir de là nous interrogeons la pertinence du dispositif médical pour le traitement de la difficulté scolaire. / The pupils of preschool and elementary school are estimated. In case of suspicion of possible leaming disorders they are sent in a unit of evaluation for a medical expertise. This research suggests examining how the medical device has come in that of the school to detect at thepupil's of possible leaming disorders and treat them. Yet these children seem to stay in processes of leaming which are the ones of children of preschool and first year of elementary school. The contributions theories of cognitive development allow us to describe them, but does not enlight us about the articulation between the cognitive and emotional development. lt is therefore, based on the contributions of the clinical psychopathology and the psychoanalysis, based on several case studies, that we treat problems susceptible to interfere on the school leaming. From there we question the relevance of the medical device for the treatment of the school difficulty.

A presente pesquisa visa acompanhar os efeitos de uma oficina de música sobre um grupo de crianças com transtornos de desenvolvimento. O objetivo foi o de estabelecer algumas hipóteses sobre a compreensão que a atenção à dimensão da musicalidade pode fornecer sobre esses casos, bem como que tipo de contribuição é capaz de proporcionar em termos de tratamento. Diversas pesquisas constataram que há, na primeira infância, uma relação do bebê com o outro, cuidador, da qual é possível depreender certas qualidades musicais. Além disso, pela via da psicanálise, é desenvolvida a tese de que a voz e a música podem ser abordadas como uma porta de entrada para a relação arcaica entre o sujeito e o Outro, em especial através da noção de pulsão invocante termo cunhado por Jacques Lacan, mas aprofundado principalmente por autores posteriores. A leitura de alguns trabalhos em torno dessa questão conduziu a uma consideração sobre a importância da musicalidade da voz, bem como da sincronia temporal na relação entre o infans e o outro, para a constituição do sujeito. Apesar da potência invocadora da música, o circuito da pulsão invocante não se completa enquanto a dimensão diacrônica e a alternância entre presença/ausência não engendrarem a falta cujo destino na constituição do sujeito for o do recalque originário. O que coloca a questão de se, em primeiro lugar, em casos de psicose e autismo, a sensibilidade à musicalidade está preservada e, em segundo lugar, se uma intervenção terapêutica pela via da música produziria efeitos positivos na qualidade do laço social estabelecido por essas crianças. Os resultados obtidos na pesquisa alinham-se com os de outras pesquisas que mostram que a sensibilidade ao manhês e à musicalidade está preservada em casos de autismo. Os efeitos que a dimensão de surpresa envolvida na música produz em diferentes crianças apresentaram uma aproximação possível com as hipóteses diagnósticas e com a orientação da intervenção no tratamento desses casos. Por fim, pareceu-nos que a atenção à dimensão musical, seja presente na fala ou nos movimentos, é profícua para o trabalho com crianças com distúrbios de desenvolvimento como o autismo e a psicose, seja num enquadre institucional em grupo ou não / The present dissertation aims to verify the effects of a music workshop on a group of children with developmental disorders. The goal was to establish some hypotheses related to what an attention to the dimension of musicality may provide in terms of understanding to these cases, as well as the kind of contribution it may offer in terms of treatment. Several researches have established that there is, in early childhood, a relationship of the infans with the caring other from which it is possible to infer musical qualities. Furthermore, through psychoanalytical theory, we develop the thesis that voice and music may represent a doorway to the archaic relationship between the subject and the Other, specially through the notion of invocative drive a term coined by Jacques Lacan, but which was further developed by subsequent authors. The reading of some works related to this issue has lead to a reflection on the importance of the musicality of voice, as well as the temporal synchrony present in the relationship between infans and other, to the subjects constitution. Despite the invocative power of music, the circuit of the invocative drive cannot complete itself as long as the diachronic dimension and the alternating cycle of presence/absence produce the lack that is, in the constitution of the subject, destined for the original repression. Which raises the question, first of all, if the sensibility to music is preserved in cases of autism and child psychosis and, secondly, if a therapeutic intervention based on music would produce any positive effects in the quality of the social bonds established by these children. The results obtained line up with other researches which show that the sensibility to the motherese and musicality is preserved in cases of autism. Also, the effects that the surprise inherent to music have on different children present us with a possible approach to the diagnostic hypotheses and to the orientation of intervention in the treatment of these cases. Finally, we had indications that the attention to the musical qualities present in speech or movement is fertile in work with children with developmental disorders such as autism and psychosis, whether in an institutional context or not

Deregulierung des RAS/MAPK Signalwegs führen nicht nur zur Krebsentstehung, sondern sind auch mitverantwortlich für Entwicklungsstörungen, dieals Keimbahnmutationen in Schlüsselregulatoren des MAPK Signalwegs zurückzuführen sind, werden aufgrund überlappender Phänotypen unter dem Begriff RASopathien subsumiert. Obwohl die Inzidenz für solide Tumore bei diesen Patienten gering ist, wird ein Zusammenhang zum Auftreten verschiedener Leukämieformen deutlich. Im Rahmen dieser Arbeit wurden Mutationen zweier Schlüsselregulatoren des MAPK Signalwegs, PTPN11 und BRAF, hinsichtlich ihrer Fähigkeit zur neoplastischen Transformation analysiert. Zur Durchführung funktioneller Assays wurden Zelllinien mit lentiviraler Vektoren mit NS-, LS- oder NS und Leukämie-assoziierten SHP2 oder CFC-assoz. BRAF Mutationen (Mut), generiert. Die Testung des neoplastischen Potentials erfolgte anhand nicht-tumorigenen humanen sowie an 208F Ratten-Zelllinie. SHP2/BRAF-Mutationen haben eine spindel-ähnliche Zellmorphologie, Proliferation sowie das Dichte- und Anker-unabhängiges Wachstum in 208F gefördert. Diese Ergebnisse sprechen dafür, dass RASopathie-assoziierte Mutationen zu einem Transformationsphänotyp führen können, ähnlich wie die klassischen Ras Onkogenen. Um zu testen, ob Mut-SHP2 das in vivo Tumorwachstum beeinflusst, wurden SHP2-208F-Zellen in Nacktmäuse injiziert. Eine Förderung des Tumorwachstums konnte sowohl durch mut- als auch durch wt-SHP2 beobachtet werden. RASopathie-assoziierte mutierte Proteine führten auch zu einer moderaten Aktivierung des MAPK-Signalwegs. Eine erhöhte Bindungsstärke zu GAB1 konnte mittels ein TAP-Assay ermittelt werden. Auf transkriptioneller Ebene konnte einer Gensignatur, die sowohl durch RASopathien als auch der klassischen onkogenen BRAF identifiziert werden.Die Ergebnisse dieser Studie können für ein besseres Verständnis der Downstream-liegenden Mechanismen von RASopathie-bezogenen Signalwegen und ihrer Beteiligung an der Tumorprogression beitragen / Deregulation of the Ras/MAPK signaling is implicated in a variety of human diseases, including cancer and developmental disorders. The RASopathies are characterized by an overlapping phenotype in patients and result from germline mutations in key regulators of the MAPK signaling cascade. Although the incidence of solid tumors is rather low, reports on different leukemia forms have increased. In this work, a group of mutations in the genes PTPN11 and BRAF were selected for expression in cell lines for a comprehensive molecular and phenotypic characterization. Non-tumorigenic human cell lines and the rat 208F fibroblasts were transduced with lentiviral particles with SHP2/BRAF wildtype (wt), Noonan (NS)-, NS- and leukemia- or LS–associated SHP2 mutations (mut) and CFC-associated BRAF mutations to identify their potential roles in neoplastic transformation. Mutations in both genes promoted cell morphology alterations, cell proliferation, density- and anchorage-independent growth in rat fibroblasts. These results suggested that RASopathies-associated mutations in both genes confer a transformation phenotype in vitro similar to the classical oncogenes. To investigate whether mutations in SHP2 contribute to tumor growth in vivo, 208F cells expressing wt/mut SHP2 were injected in nude mice. Both wt/mut SHP2 expressing cells promoted tumor growth. Additionally, RASopathies-associated mutant SHP2 and BRAF proteins constitutively activate the MAPK signaling in a moderate manner compared to oncogenic BRAF. To identify modifications in the protein interaction of mut-SHP2, TAP assays were performed. Mut-SHP2 proteins showed an increased binding strength to GAB1 compared to wt. Finally, a microarray analysis revealed a gene cluster commonly regulated in both RASopathies and the oncogenic BRAF. The findings of this work might be useful for a better understanding of the downstream mechanisms of RASopathies-related signaling and their involvement in cancer progression.

Many people would argue that New Zealand has had a poor reputation for providing support services for the families of people with an Autistic Spectrum Disorder (ASD). The limited support services available for families in this country were highlighted during the trial and the manslaughter conviction of Janine Albury-Thomson. Albury-Thomson was found guilty of the manslaughter of her autistic daughter, Casey (MOH, 1999). The sentencing judge called for an independent inquiry to be held to examine the extent of support services that were available for families affected by the disorder with a view to identifying any gaps that may exist and ascertaining whether or not government policy could be blamed (Norris, 1998). More than twelve years have now elapsed since the Albury-Thomson trial and research was needed to ascertain the experiences of families raising a child with ASD. This research examines the experiences of families who have a child who has an ASD diagnosis. Research participants were families of people with Autism Spectrum Disorder who reside in the Canterbury/West Coast area. The research explored the support needs of families and the informal and formal supports that are available to them in this region. This research was conducted in three parts, with each part having a distinct method of data collection allowing triangulation of research findings. Part one was a survey questionnaire distributed via a range of mediums using a snowball sampling method. The second data set was made up of two case studies that were undertaken with a semi-structured interview approach. The third set of data was elicited via a semi-structured interview process from five local service providers that provide services to those with ASD and their families. A qualitative methodology was adopted to analyse research findings. This methodological approach was selected because it gave participants the opportunity to tell their stories about the diagnostic pathway they travelled and their experiences using available services. This research has social policy relevance as it was designed to examine the participant’s experiences while using services and resources available for the families of people with ASD in the Canterbury/West Coast area. Participants told of various social, emotional, and practical impacts and of the experiences they encountered while using the various services available. While the level of awareness of ASD has increased, the diagnosis process proved to be problematic for some when using the public health system. Consistent with a 2001 study commissioned on behalf of the Autistic Association of New Zealand, participants in this study who sought a diagnosis through the public health system found it to be a protracted process. Participants attributed delays to a lack of resources or staff that had a limited knowledge of ASD and saw these factors as barriers to obtaining a diagnosis within an acceptable time frame. A more timely diagnosis was reportedly received when the private health system was used. With regards to support offered by the agencies involved with ‘day to day’ contact with families it was found that overall, competent, experienced people worked for the existing agencies and they were capable of offering support where needed. However specific issues were identified by participants including a perception that case managers failed to understand their situation because they were unfamiliar with the implications of having a family member with ASD. Significantly, family members and service providers both identified a concern about a lack of suitable accommodation that can be utilised by a person with ASD. Because there is limited research into the support needs of families of a child with ASD this research provides an important insight into the needs of a fairly marginalised, and sometimes socially isolated, group. Implications for ongoing service provision and support of families are discussed in the thesis.