Den här studien handlar om grundskolans interna samverkan kring elever med neuropsykiatriska funktionsnedsättningar (NPF). Syftet med studien var att belysa hur samverkan mellan olika professioner i grundskolan kan utvecklas för att skapa en tillgänglig lärmiljö för elever med NPF. De frågeställningar som besvaras är: Hur beskriver lärare sin samverkan med andra professioner i grundskolan när det gäller skolsituationen för elever med NPF? Vad behöver enligt lärarna utvecklas när det gäller samverkan kring elever med NPF? Studien utgick från verksamhetsteori som bidrog till att samverkan kunde studeras på ett djupare plan. Sex grundskollärare intervjuades med halvstrukturerade intervjuer. Med tematisk- och verksamhetsteoretisk analys på studiens empiri framkom att samverkan mellan lärare och skolans övriga professioner inte sker i den utsträckning som lärare önskar. Kunskapsmässiga svårigheter är det vanligaste motivet för samverkan mellan lärare och andra professioner i skolan, där stöd av elevers sociala svårigheter och skolans förebyggande arbete får stå tillbaka. Det som enligt lärarna behöver utvecklas är att rektorn blir delaktig i skolans specialpedagogiska processer; Skolors organisatoriska arbete kring elever med NPF behöver förtydligas, både gällande motivet för samverkan, professioners ansvarsområden och att skolor skapar forum och rutiner för skolans professioner att mötas kring elever med NPF. / This study is about the primary school's internal collaboration around pupil with neurodevelopmental disorders (NDD). The aim of this study was to highlight how cooperation between different professions in primary school can be developed to create an accessible learning environment for students with NDD. The questions that the study sets out to answer is: How do teachers describe their collaboration with other professions in elementary school regarding the school situation for students with NDD? According to the teachers, what needs to be developed in terms of collaboration around students with NDD? The study was based on an activity theory, which contributed to the fact that cooperation could be studied on a deeper level. Six primary school teachers were interviewed using semi-structured interviews. With a thematic- and activity theory analysis of the study's empirical data, it emerged that collaboration between teachers and the school´s other professions does not take place to the extent that teachers wish. Knowledge-related difficulties are the most common motive for teachers´collaboration with other professions in the school, here support of students´ social difficulties and the school´s preventive work may take a back seat. According to the teachers, what needs to be developed is for the principal to be involved in the school´s special education processes. Schools´ organizational work around students with NDD needs to be clarified, both regarding the motive for collaboration, professions´ areas of responsibility and that schools create forums and routines for the school´s professions to meet around students with NDD.

L’implication parentale est une composante indispensable à la collaboration école-famille (ministère de l’Éducation, du Loisir et du Sport [MELS], 2009 ; Larivée, 2011). De plus, plusieurs enjeux demandent une adaptation chez les familles immigrantes et les familles ayant un enfant avec TSA. Lorsqu’une famille fait face à ces deux situations (immigrante et ayant un enfant avec TSA), celle-ci fait face à un double défi. Cette recherche porte sur l’implication parentale, sur celle des parents issus de l’immigration et ayant un enfant avec TSA. L’objectif principal est de mieux comprendre les pratiques parentales que les parents utilisent pour s’impliquer dans la scolarité de leur enfant. Trois objectifs spécifiques permettent d’y répondre. Le premier sert à décrire les pratiques d’implication parentales des parents issus de l’immigration et ayant un enfant avec TSA (Objectif 1). Le deuxième sert à décrire les stratégies d’adaptation que les parents utilisent au travers des pratiques d’implication parentales (Objectif 2). Le troisième sert à décrire les facilitateurs et les obstacles à leurs différentes pratiques d’implication parentale, selon ces parents (Objectif 3). En suivant une méthode qualitative interprétative, un entretien semi-dirigé a été effectué avec quatre participantes. Les données ont été analysées avec une analyse thématique et un codage ouvert. Les résultats ont montré que les pratiques parentales amenant l’implication à la maison sont souvent utilisées par la majorité des participantes, alors que celles impliquant les parents à l’école sont les moins utilisées. De plus, nous voyons que la relation avec l’école, le soutien social et l’état mental des parents peuvent grandement influencer l’implication parentale des parents. / Parental involvement is essential for family-school partnerships (ministère de l’Éducation, du Loisir et du Sport [MELS], 2009 ; Larivée, 2011). Additionally, several issues require adaptation among immigrant families and among families with an autistic child. When a family faces these two situations (being immigrant and having an autistic child), their challenges double. This research focuses on parental involvement, particularly that of parents with an immigrant background and an autistic child. The main objective is to better understand the parenting practices that these parents do to be involved in their child’s education. Three specific objectives are used to answer the main goal. The first one is used to describe the parental involvement practices of parents with an immigrant background and an autistic child (Objective 1). The second one allows us to describe the adaptation strategies that parents use through parental involvement practices (Objective 2). The third one is used to describe the facilitators and obstacles to their different parental involvement practices, according to these parents (Objective 3). Following an interpretive qualitative method, a semi-structured interview was carried out with four participants. Data was analyzed with thematic analysis and open coding. The results showed that parental practices applied at home are used by most of the participants, while those involving parents at school are the least used. In addition, we see that the relationship with school, social support and the mental state of parents can greatly influence parents' parental involvement.

[pt] Esta pesquisa propõe um estudo com objetivo de validação clínica do Sistema Brasileiro de Avaliação Qualitativa da Figura de Rey (BRAS-ROCF). A partir de uma amostra total de 80 crianças e adolescentes foram verificados critérios quantitativos e qualitativos da cópia do teste Figura Complexa de Rey (ROCF), comparando o desempenho de dois grupos: (1) Grupo com diagnóstico prévio de TEA (GTEA) e (2) um grupo sem diagnóstico de TEA (GST). O primeiro estudo analisou os resultados quantitativos da ROCF, encontrando diferença significativa (t (77) = 3.457, p .037) entre os grupos. O segundo estudo analisou a validade clínica do BRS-ROCF sendo a estratégia de elementos idiossincráticos mais utilizada (21 por cento) pelo GTEA e uma das menos utilizadas pelo grupo GST (5 por cento). A estratégia de desenho com início por metades ou quadrantes foi mais utilizada (36 por cento) pelo GST. Comparando os dois grupos quanto a estratégia aplicada para cópia da figura de Rey foi detectada uma relação forte (r = .702, p < .001) entre os critérios de correção qualitativa da ROCF e os critérios propostos pelo BRS-ROCF. A partir dos achados, conclui-se que a análise qualitativa BRAS-ROCF tem utilidade clínica como medida de funcionamento executivo. / [en] This research proposes a study aiming to clinically validate the Brazilian System of Qualitative Assessment of the Rey Figure (BRAS-ROCF). From a total sample of 80 children and adolescents, quantitative and qualitative criteria of the Rey Complex Figure Test (ROCF) copy were verified, comparing the performance of two groups: (1) a group with a previous diagnosis of Autism Spectrum Disorder (ASD) (GTEA) and (2) a group without a diagnosis of ASD (GST). The first study analyzed the quantitative results of the ROCF, finding a significant difference (t(77) = 3.457, p .037) between the groups. The second study examined the clinical validity of the BRS-ROCF, with the idiosyncratic element s strategy being the most utilized (21 percent) by the GTEA and one of the least utilized by the GST (5 percent). The strategy of drawing with beginning by halves or quadrants was more utilized (36 percent) by the GST. Comparing GTEA and GST, a strong relationship (r = .702, p < .001) was observed in this modality between the qualitative correction criteria of the ROCF and the criteria proposed by the BRS-ROCF. From these findings, it is concluded that the qualitative analysis of BRAS-ROCF has clinical utility as a measure of executive functioning.

In dieser Arbeit wurden nutzbringende Anwendungsmöglichkeiten für monoskopische und (auto)stereoskopische 3D-Anzeigen in Fahrzeugen theoretisch hergeleitet und empirisch überprüft. Zur Ableitung der Hypothesen wurde für jede Teilaufgabe anhand eines Fragenkatalogs zu den Vor- und Nachteilen von 3D-Anzeigen untersucht, inwieweit deren Bearbeitung davon profitiert, dass Informationen räumlich abgebildet werden. Die erwiesenen 3D-Vorteile wurden zu fünf Kategorien zusammengefasst: Integration, räumliche Kompatibilität, Aufmerksamkeitslenkung, Bildhaftigkeit und Attraktivität. Da der wesentliche 3D-Vorteil für Anzeigen in Fahrzeugen in einer räumlich kompatiblen Informationsdarstellung aus der Fahrerperspektive gesehen wurde, lag der Schwerpunkt der empirischen Arbeit auf 3D-Anzeigen für Fahrerassistenzsysteme (FAS). Am Beispiel einer 3D-Anzeige des Abstandsregeltempomaten (ART) wurde nachgewiesen, dass die Vorteile von 3D-Anzeigen für FAS in einer Erhöhung der Attraktivität und Akzeptanz sowie in einer Verbesserung des unmittelbaren Verständnisses im Vergleich zu 2D-Anzeigen liegen. Gleichzeitig wurden mit optimal gestalteten 3D-Anzeigen keine Nachteile in der Wahrnehmungssicherheit und Ablenkungswirkung festgestellt. Anhand der Literaturanalyse und der empirischen Ergebnisse wurden Gestaltungshinweise für 3D-Anzeigen in Fahrzeugen formuliert. Der erwartete 3D-Vorteil einer kompatiblen Darstellung stellte sich bei einer konstanten Anordnung der Informationen nicht ein, bleibt aber für Aufgaben mit einem kontinuierlichen Abgleich (z.B. Navigation) zu überprüfen. Die stereoskopische Darbietung erbrachte keinen besonderen Nutzen. Das fahrzeugtaugliche ASD erhöhte sogar die Reaktionszeiten. Insgesamt sprechen die Ergebnisse für eine gezielte Verwendung bildhafter monoskopischer 3D-Anzeigen für FAS und ausgewählte räumliche Funktionen, welche sich anhand von Begriffen und abstrakten Symbolen nur schwer erläutern lassen. / This thesis consists of the theoretical deduction and empirical evaluation of useful applications for monoscopic and (auto)stereoscopic 3D-displays in vehicles. For deducting hypotheses concerning the benefits and limits of 3D-displays, each subtask was tested for its potential benefits from a 3D-information presentation using a catalogue of confirmed advantages and disadvantages of 3D-displays. The proven 3D-advantages were summarized in five categories: integration, spatial compatibility, direction of attention, concreteness and attractiveness. Because it was presumed, that 3D-displays in vehicles are especially favorable for representing information about the vehicle surrounding in a 3D-perspective compatible to the drivers view, the empirical part was mainly focused on the application of 3D-displays for driver assistance systems. Using a 3D-display for adaptive cruise control (ACC), a general increase of attractiveness, acceptance and immediate comprehension for 3D-displays in comparison to conventional 2D-displays was confirmed. Simultaneously, well designed 3D-displays did not compromise perceptional safety and driver distraction. Design guidelines for 3D-displays in vehicles were concluded from the evaluation results and from literature analysis. Even though the expected 3D-benefit of spatially compatible information displays from the driver’s perspective was not confirmed for driver assistance systems like ACC with a constant layout of information, it still remains to be tested for continuous matching tasks like navigational checking in cars. The stereoscopic presentation of 3D-displays did not show advantages. On the contrary, an in-vehicle ASD even increased reaction times. In summery, the results suggest a distinctive application of well designed concrete and monoscopic 3D-displays for driver assistance systems and selected spatial functions which are difficult to explain using abstract notions or symbols.

The topic of this diploma thesis is Interaction between parent and child with autistic spectrum disorder. The theoretical part is about mental development neurotypical preschool child and child with ASD, focused on social skills, speech and play. Emphasis is placed on reciprocity in parent-child socio-communication interaction. Next chapter is devoted to the specifics of raising a child with ASD. Empirical part contains qualitative research to investigate individual variability in social-communication behaviour in dyadic interaction parent-child with ASD. Videos were taken from which the socio-reciprocal skills, frequency and quality of interactions and initiation of contact on the part of the child and its response to parental initiation were analysed. Special attention was paid to making eye contact. The output of the thesis is practical recommendations for mothers, detailed qualitative analyses of observed interactions and a more detailed description of the socio-communicative behaviour of children with PAS. Keywords: interaction parent-child with ASD, social skills, social reciprocity, reciprocity in social communication, reciprocal-social behavior, play of preschool child, preschool child with ASD

In this paper we have chosen to focus on social workers and their experiences of interacting with clients with neuropsychiatric disabilities, in example persons with ADHD (Attention-Deficit/Hyperactivity Disorder), Asperger syndrome, autism and/or Tourette syndrome. The main purpose was to look into three areas: What knowledge do social workers mean that they need about neuropsychiatric disabilities and how can their needs of knowledge can be met? How do they experience the meeting with a person with neuropsychiatric disabilities? How does the cooperation function between authorities regarding persons with neuropsychiatric disabilities? Definition of the concept of disability and function from a historical perspective points out that the approach has changed over time. Previous research studies of the interaction in meeting between the client and the social worker shows that the social worker carries two faces, so called aspects. The first aspect is about help and care and the second aspect is about administrative functions. These two aspects can be difficult combining due to their differences. The processing in social work consists of three phases. The first is about the client presenting its issues, the next is about gathering background details about the client and the third phase to decide what action is the most adequate for the client. Recent studies show that persons with neuropsychiatric disabilities do not get the help and support they are in need of. This study is based on a qualitative method where we performed semi-structured interviews. We used a strategic sampling with maximum variation to get more in-depth answers from our informants. Interviews were made with six informants who were social workers who all have encountered neuropsychiatric disabilities on a daily basis. The analysis was based on an inductive driven analysis method which we have chosen to carefully describe. It shares some similarities with Grounded theory (GT), but it cannot really be considered as GT. Our results shows that the knowledge has improved due time but there still are some issues with the cooperation between sections due to the lack of knowledge of these diagnosis. With knowledge and interaction with clients our informants experienced that their approach changed. They felt more secure in their role as a social worker in meeting persons with neuropsychiatric disabilities. The prevalence of these disabilities has increased. Our informants noted that females are more noticeable than before and that the diagnosis can be performed in an earlier stage in life. / I denna uppsats har vi valt att fokusera på socialarbetare och deras upplevelser av att interagera med klienter som har neuropsykiatriska funktionsnedsättningar, exempelvis personer med ADHD (Attention-Deficit/Hyperactivity Disorder), Aspergers syndrom, autism och/eller Tourettes syndrom. Syftet  var att undersöka tre områden: Vilken kunskap anser sig socialarbetarna behöva om neuropsykiatriska funktionsnedsättningar och hur kan de tillgodose den kunskap de behöver om funktionsnedsättningarna? Hur upplever de mötet med en person med neuropsykiatriska funktionsnedsättningar? Hur fungerar samarbetet mellan olika instanser när det gäller neuropsykiatriska funktionsnedsättningar?   Definitionen av begreppet handikapp och funktion utifrån  ett historiskt perspektiv påvisar att synsättet har förändrats över tid. Tidigare forskning visar att i interaktionen i mötet mellan socialarbetaren och klienten visar att socialarbetaren bär på två ansikten, så kallade aspekter. Den första aspekten handlar om hjälp och omtanke och den andra aspekten handlar om administrativa funktioner. Dessa två aspekter kan vara svåra att kombinera I och med deras olikheter. Handläggningen i socialt arbete består av tre faser. Den första handlar om att klienten skall presentera sina problem, den andra att samla in information rörande bakgrund och den tredje fasen handlar om att bestämma vilken insats som är mest lämpad för klienten. Nyare studier visar att personer med neuropsykiatriska funktionsnedsättningar inte får den hjälp och stöd de är i behov av. Denna studie är baserad på en kvalitativ metod där vi genomförde semi-strukturerade intervjuer. Vi använde oss av ett strategiskt urval med maximal variation för att få mer djupgående svar från våra informanter. Intervjuerna gjordes med sex informanter som var socialarbetare varav alla hade kommit i kontakt med neuropsykiatriska funktionsnedsättningar på en daglig basis. Analysen grundade sig i en induktivt driven kvalitativ analys som vi har valt att beskriva noggrant. Den delar vissa likheter med Grounded Theory (GT), men den kan inte riktigt betraktas som GT. Våra resultat visar att kunskapen har ökat över tid, men att det finns svårigheter med samarbetet mellan instanser på grund av bristande kunskap om dessa diagnoser. Med kunskap och interaktion med klienter så upplever våra informanter att deras synsätt har förändrats. De känner sig mer säkra i sin roll som socialarbetare i att möta personer med neuropsykiatriska funktionsnedsättningar. Prevalensen av dessa funktionsnedsättningar har ökat. Våra informanter noterade att kvinnor är mer förekommande än tidigare och att diagnostisering kan ske i ett tidigare skede i livet.

Thesis(MEdPsych)--Stellenbosch University, 2012. / ENGLISH ABSTRACT: Autism or Autism Spectrum Disorder (ASD) is a condition that, at present, affects approximately one out of every 100 children globally and indications are that the prevalence thereof is steadily on the rise. ASD is a complex neurological condition that impairs social interaction, communication and behaviour. Research on the wide-ranging effects of ASD and its unique characteristics in each child with ASD is widely available. Several studies refer to the fact that ASD has an impact on the family unit, but very few researchers have investigated the support that families from different cultural groups in South Africa are enjoying whilst raising a child with autism. The current situation being what it is means that professionals and families have very little data on the subject and inadequate support is available to address the specific needs of families who are raising a child with autism. The aim of this study was to investigate the support structures of three families from three different cultural groups in South Africa who were raising a child with autism. The central issue that was researched was the support structures available to parents raising a child with autism, and how parents access that support. This is a qualitative study within an interpretive research paradigm. In this case study, the methods of data collection comprised semi-structured interviews, observations and reflective journals. This design embraced qualitative research methods that could expose the uniqueness of each family’s experience and allowed participants the freedom to express this. The three families, who were purposefully selected for this study, were from different cultural backgrounds. One of the children in each family met the criteria published in the Diagnostic and statistical manual of mental disorders, fourth edition, text revision (American Psychiatric Association, 2000) for Autism or Pervasive Developmental Disorder not Otherwise Specified (PDD-NOS). The study found that the parents in the three families received support from their spouses and the neuro-typical siblings. The families also enjoyed physical support, financial support and emotional support from different sources. Parents reported feeling supported when others show acceptance and understanding of their children’s deficits and when such others are prepared to ‘go the extra mile’. The three families also perceived information and guidance as a valuable source of support. Even though they had firm support structures in place, they also reported on the lack of support available to them. All three families enjoyed these forms of support, but it was interesting to find out that the families received the support from different sources. / AFRIKAANSE OPSOMMING: Outisme of outisme spektrum versteuring (OSV) is 'n toestand wat tans ongeveer een uit elke 100 kinders wêreldwyd affekteer en daar is aanduidings dat die voorkoms daarvan steeds toeneem. OSV is 'n komplekse neurologiese toestand wat swak sosiale interaksie, kommunikasie en gedrag tot gevolg het. Navorsingsresultate oor die breë gevolge van OSV en die unieke eienskappe daarvan in elke kind met OSV is algemeen beskikbaar. Verskeie studies verwys na die feit dat OSV 'n impak het op die gesinseenheid, maar tot dusver het baie min navorsers die ondersteuning ondersoek wat gesinne uit verskillende kulturele groepe in Suid-Afrika tydens die opvoeding van 'n kind met outisme geniet . Die huidige situasie voorsien professionele mense en gesinne van baie min data oor die onderwerp en onvoldoende ondersteuning is beskikbaar om die spesifieke behoeftes van gesinne met 'n kind met outisme aan te spreek. Die doel van hierdie studie was om ondersoek in te stel na die ondersteuning wat gesinne in verskillende kultuurgroepe in Suid-Afrika tydens die opvoeding van ‘n kind met outisme geniet. Die sentrale ondersoekvraag het betrekking gehad op ondersteuningstrukture vir gesinne met ‘n kind met outisme binne hul kultuurgroep, sowel as die wyse waarop die gesinne toegang tot die ondersteuning verkry. Die studie was kwalitatief van aard binne 'n interpretatiewe navorsingsparadigma en ’n gevallestudie is as navorsingsontwerp gekies. Data is deur middel van semi-gestruktureerde onderhoude, waarnemings en reflektiewe joernale ingesamel. Die kwalitatiewe navorsingsmetodes omvat die uniekheid van elke gesin se ervaring en laat deelnemers die vryheid om uitdrukking daaraan te gee. Drie gesinne is doelbewus vir hierdie studie gekies. Die gesinne moes oor die volgende kenmerke beskik: Hulle moes uit verskillende kulturele agtergronde (Afrikaan, Wit en Indiër) kom. Hul kind moes voldoen aan die kriteria in die Diagnostiese en Statistiese Handleiding van geestesversteurings, vierde uitgawe, teks hersiening (2000) vir Outisme of pervasieve ontwikkelingsstoornis nie anders gespesifiseer nie (PDD-NOS). Verskeie etiese beginsels is vir hierdie studie nagekom om te verseker dat die navorsing eties was. Die studie het bevind dat die ouers in die drie gesinne ondersteuning van hul gades en die neurotipiese broers en susters van die kind met outisme ontvang het. Die gesinne het ook fisiese ondersteuning, finansiële steun en emosionele ondersteuning vanuit verskillende bronne geniet. Die gesinne het aangedui dat hul ondersteun voel wanneer hul kinders se afwykings aanvaar word, begrip daarvoor getoon word en andere bereid was om die ‘ekstra myl te loop’. Die drie gesinne het ook inligting en leiding as waardevolle bronne van ondersteuning ervaar. Selfs al het die families sterk ondersteuningstrukture in plek gehad, het hulle ook die gebrek aan ondersteuning uitgelig. Al drie gesinne geniet die bogenoemde vorme van ondersteuning, maar dit was interessant om uit te vind dat die families hierdie ondersteuning vanuit verskillende bronne ontvang het.

Submitted by Filipe dos Santos (fsantos@pucsp.br) on 2018-07-18T11:46:06Z No. of bitstreams: 1 Renata Cristina Michel.pdf: 1614274 bytes, checksum: e95f711d2385e57a6d1783ef14a0dfa6 (MD5) / Made available in DSpace on 2018-07-18T11:46:06Z (GMT). No. of bitstreams: 1 Renata Cristina Michel.pdf: 1614274 bytes, checksum: e95f711d2385e57a6d1783ef14a0dfa6 (MD5) Previous issue date: 2018-05-10 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / Results from previous studies indicated that there was a reduction in the percentage of intervals with occurrence of disruptive behaviors after children with ASD were taught a verbal response relevant to the situation that evoked such behaviors; and there was an increase in the percentage of intervals with occurrence of relevant verbal responses (control). In the present study, we sought to verify the effect, on disruptive behaviors, on the emission of verbal responses and non-verbal responses, from a Functional Communication Training (FCT), plus a procedure to avoid escape of important activities by participants; it was also sought to verify if there was a generalization of the verbal response before a naive experimenter. Participants were three children between three and six years old, diagnosed with autism, who attended to school for at least one year, had verbal behavior below that expected for the age, and disruptive behaviors maintained by negative reinforcement (task escape). A functional analysis was performed composed of three experimental conditions: Demand; Attention; and Control. The results of the functional analysis showed that there was a considerably greater number of disruptive responses emitted by the three participants in the demand condition. In the Functional Communication Training (FCT) phase, each participant was taught to request a pause to perform tasks through verbal command responses. Initially, the participant was instructed to issue the verbal response, immediately after the presentation of the task, and gradually increased the time between the issuance of the experimenter's instruction ("Do ...") and the tip for verbal response by participant, until the verbal response was issued without any prompt. The results showed that the three participants presented a decrease in the emission of disruptive responses after the acquisition of the verbal response to request a pause to perform tasks. Then, in the Fading out phase for the task execution response and a gradual decrease of the prompt was implemented, from highest to lowest: DF - total physical hint, DL - light physical tip, DG - gestural tip and I - independent response. The results indicated that the three participants acquired the response for the task execution, reducing the emission of verbal pause requests for execution and maintaining a low number of disruptive responses. In the generalization test of the verbal response (mand) and the non-verbal response (do the task) to a naive experimenter, it was verified that for all the participants there was generalization of the verbal response and generalization of the nonverbal response / Resultados de estudos anteriores apontaram que houve redução da porcentagem dos intervalos com ocorrência de comportamentos disruptivos após crianças com TEA serem ensinadas a emitir resposta verbal relevante à situação que evocava tais comportamentos; e houve aumento da porcentagem dos intervalos com ocorrência de respostas verbais relevantes (mando). No presente estudo, buscou-se verificar o efeito, sobre comportamentos disruptivos, sobre a emissão de respostas verbais e de respostas não verbais, de um Treino de Comunicação Funcional (FCT), acrescido de um procedimento para evitar a esquiva de atividades importantes pelos participantes; buscou-se, também, verificar se ocorria generalização da emissão da resposta verbal diante de experimentadora ingênua. Foram participantes três crianças, entre três e seis anos de idade, diagnosticadas com autismo, que frequentavam escola há pelo menos um ano, apresentavam comportamento verbal abaixo do esperado para a idade e comportamentos disruptivos mantidos por reforçamento negativo (fuga da tarefa). Foi conduzida análise funcional composta de três condições experimentais: Condição de demanda; Condição de atenção; e Condição controle. Os resultados da análise funcional mostraram que houve um número consideravelmente maior de respostas disruptivas emitidos pelos três participantes na condição de demanda. Na fase do Treino de Comunicação Funcional (FCT), cada participante foi ensinado a solicitar pausa da execução de tarefas através de respostas verbais de mando. Inicialmente, era dada dica ao participante para emissão da resposta verbal, imediatamente após a apresentação da tarefa, e aumentava-se gradativamente o tempo entre a emissão da instrução da experimentadora (“Faça...”) e a dica para a resposta verbal pelo participante, até que a resposta verbal fosse emitida sem nenhuma dica. Os resultados mostraram que os três participantes apresentaram diminuição na emissão de respostas disruptivas após a aquisição da resposta verbal para solicitação de pausa para a execução de tarefas. Em seguida, na fase de Dica para a resposta de execução da tarefa e diminuição gradativa da dica (Fading-out), foi implementado um procedimento de alteração do nível de dica, da maior para a menor: DF - dica física total, DL – dica física leve, DG – dica gestual e I – resposta independente. Os resultados apontaram que os três participantes adquiriram a resposta de execução das tarefas, reduzindo a emissão de respostas verbais de solicitação de pausa para a sua execução e mantendo baixo número de emissão de respostas disruptivas. No teste de generalização da emissão de resposta verbal (mando) e do tempo de permanência na tarefa diante de uma experimentadora ingênua, verificou-se que, para todos os participantes, houve generalização da resposta verbal e generalização da resposta não verbal

Des anomalies biochimiques de la voie sérotonine-N-acétylsérotonine-mélatonine ont été observées dans les Troubles du Spectre Autistique (TSA) et la prématurité. Cependant, les mécanismes moléculaires de régulation de cette voie et les causes des anomalies biochimiques observées dans ces maladies sont encore mal connus. Afin de mieux comprendre les bases génétiques de la voie sérotonine-N-acétylsérotonine-mélatonine, nous avons utilisé une approche de génétique quantitative au travers de deux populations d’étude indépendantes, dans lesquelles des paramètres de cette voie ont été mesurés. Ces deux cohortes, composées d’une part de plus de 250 familles avec autisme et plus de 300 témoins et d’autre part, de 183 nouveau-nés dont 93 nés très prématurés, incluent ainsi des individus présentant deux situations pathologiques différentes associées à des anomalies de cette voie. Une première étude de la voie sérotonine-N-acétylsérotonine-mélatonine dans les familles avec TSA a permis d’obtenir des estimations de l’héritabilité au sens strict, allant de 0,22 pour la mélatonine à 0,72 pour la N-acétylsérotonine (NAS). Des études d’association portant dans un premier temps sur une liste de 812 gènes candidats pour la régulation de la voie sérotonine-NAS-mélatonine et dans un second temps sur tout le génome, n’ont pas permis d’identifier des variants significativement associés aux traits biochimiques. Cependant, des études d’association par gènes ont permis d’identifier trois nouveaux gènes candidats (IL21R, JMJD7 et MAPKBP1) pour la régulation de cette voie dans les familles avec TSA ainsi qu’un nouveau gène (RAET1G) dans la cohorte de nouveau-nés prématurés et témoins. Enfin une étude biochimique des phénol-sulfotransférases (PST) dans les familles avec TSA a mis en évidence une faible activité enzymatique chez 29% des patients en comparaison avec les témoins (5ème percentile). Le séquençage et le génotypage du nombre de copies des gènes de la famille SULT1A1 n’ont pas permis d’identifier des variations génétiques associées aux TSA, à l’activité PST, ou aux taux de sérotonine et de mélatonine. En conclusion, ces résultats confirment la complexité de l’architecture génétique de la voie sérotonine-NAS-mélatonine. D’autre part, ils ont permis de mettre en évidence une héritabilité élevée de cette voie et d’identifier de nouveaux gènes candidats pour comprendre la diversité inter-individuelle de cette voie chez les personnes avec TSA, les enfants prématurés et la population générale. / Biochemical abnormalities of the serotonin-N-acetylserotonin-melatonin pathway have been reported in many clinical conditions such as Autism Spectrum Disorders and preterm birth. However, molecular mechanisms underlying this pathway regulation, as well as the causes of these biochemical abnormalities remain largely unknown. The aim of this study was thus to characterize the genetic basis of the serotonin-N-acetylserotonin-melatonin pathway. To do so, we used a quantitative genetic approach in two independent populations that were previously biochemically explored for this pathway. One cohort consisted of more than 250 families with ASD and more than 300 controls and the other was composed of 183 infants including 93 very preterm newborns. Both cohorts included individuals with clinical conditions associated with disruptions of the serotonin-N-acetylserotonin-melatonin pathway. Narrow sense heritability analysis of this pathway showed relatively high estimates, ranging from 0.22 for melatonin to 0.72 for N-acetyserotonin (NAS). First, candidate-gene association studies including 812 genes related to the serotonin-NAS-melatonin pathway, then genome-wide association studies were conducted. These analyses did not identify any variant associated at the genome-wide significance level. However, a gene-based approach identified three new candidate genes (IL21R, JMJD7 and MAPKBP1) for the regulation of the pathway in families with ASD as well as one gene (RAET1G) in the cohort of preterm and term newborns. Finally, a biochemical exploration of the phenol-sulfotransferases (PST) in families with ASD revealed a decreased enzyme activity in 29% of patients compared with controls (5th percentile). SULT1A1-4 genes were then sequenced and copy number variants (CNV) were genotyped. No genetic variant could be significantly associated with PST activity, melatonin and serotonin levels, or ASD status. In conclusion, these results confirm the complexity of serotonin-NAS-melatonin pathway genetic architecture. Furthermore, this study revealed high heritability of this pathway and identified new candidate genes to understand the inter-individual variability of this pathway in ASD, preterm birth and the general population.

Bien que les troubles du langage formel affectent une grande partie des enfants avec Trouble du Spectre Autistique (TSA), leur nature reste encore incertaine. Certaines études postulent que le trouble observable chez ces enfants est de même nature que celui dont souffrent les enfants avec trouble spécifique du langage (TSL), tandis que d’autres argumentent en faveur de deux troubles qui diffèrent dans leur étiologie. Au centre de ce débat réside la complexité à recueillir des données sur le langage chez les enfants avec TSA, notamment quand il s’agit de participer de manière active. Dans cette étude, nous explorons l’interprétation en temps réel des indices grammaticaux chez des enfants avec TSA monolingues francophones, en nous intéressant aux pronoms clitiques objets, dont la faible production en contexte obligatoire a été proposée comme marqueur du TSL pour le français. / It is well-known that children with Autism Spectrum Disorder (ASD) often have language impairment. However, the nature of this impairment is still largely unknown. Some studies hold that language impairment in children with ASD is of the same nature as impairment found in children with Specific Language Impairment (SLI), whereas others argue that SLI and language impairment in ASD may be different both in their structure and their etiology. At the heart of this debate lies the difficulty of assessing language abilities of children with ASD, especially when active participation is required. Moreover, to date, few studies have investigated formal aspects of language in children with ASD in languages other than English. In this study, we explore real-time interpretation of grammatical cues in French-speaking children with ASD, with a focus on object clitics.