Bakgrund Autism är en livslång komplex funktionsnedsättning i nervsystemet som påverkar hur personen kommunicerar och beter sig mot andra människor. Kommunikationen hos barn med autism ser väldigt olika ut, det barnen har gemensamt är deras bristande förmåga att uttrycka sig samt deras bristande språkförståelse. En god kommunikation är nödvändig för att uppnå en bra kvalité i omvårdnaden. Eftersom alla barnen har olika svårigheter är det ytterst viktigt att sjuksköterskan identifierar det sätt som gör att det enskilda barnet förstår bäst. Syfte Studiens syfte var att beskriva thailändska sjuksköterskors erfarenhet av att kommunicerar med barn med autism Metod En kvalitativ metod med semistrukturerade intervjuer valdes för att besvara studiens syfte. Sex legitimerade sjuksköterskor intervjuades på Phuket International Hospital. Materialet bearbetades genom en kvalitativ innehållsanalys. Resultat Under intervjuerna framkom kommunikationsutmaningar hos barn med autism samt thailändska sjuksköterskors erfarenhet av att kommunicera med barn med autism. Anpassningen till det individuella barnet belystes som viktigt och att skapa trygghet och tid bar grundläggande för att barnen skulle utveckla en bra kommunikation. Föräldrarnas roll belystes under studien där de kunde vara ett stöd för barnen med även ett hinder. Slutsats Studien har resulterat i viktigt kunskap gällande hur sjuksköterskan kommunicerar med barn med autism. En djupare kunskap om hur autism yttrar sig har framkommit där studien visat att autism kan påverka barnen på flera olika sätt. En ökad förståelse gällande hur sjuksköterskan bör anpassa sig till barnet för att få en utvecklande kommunikation har framkommit.

Uppsatsens syfte är att beskriva och förklara hinder, möjligheter och framgångsrika pedagogiska strategier som, enligt lärare, kan finnas i lärandesituationen då elever med autismspektrumtillstånd, AST möter naturorienterat ämnesinnehåll, NO. Sex intervjuer gjordes med lärare med erfarenhet av att undervisa elever med AST i NO. Intervjuerna analyserades tematiskt, där fem teman blev resultatet: ”upplevelse av meningsfullhet”, ”omgivning som stödjer upplevelse av kontroll”, ”hantera teori”, ”hantera laborationer” och ”hantera social kommunikation”. Dessa teman analyserades utifrån kognitiva teorier i förhållande till AST och Vygotskys lärandeteorier.  Resultatet bidrar till kunskapen om pedagogiska strategier som kan minska hinder och utnyttja möjligheter då elever med AST möter NO i skolan. Det pekar på värdet av att använda elevernas intresse och erfarenheter för att nå meningsfullhet i lärandet. Sammanhangsförklarande, överenskommelser och delmål kan vara till hjälp då eleverna inte ser meningen. En omgivning som stödjer upplevelse av kontroll är en annan viktig förutsättning för lärande, vilket kan skapas med hjälp av visuell struktur, avstämningar och begränsning av sinnesintryck. Faktakaraktären på NO- ämnena kan passa elever med AST, men de abstrakta begreppen kan upplevas hindrande. Artefakter som konkretiserar och sammanhangsförklarar kan då vara användbara. Laborationsmomenten kan vara intresseväckande och lämpligt strukturerade, men också kognitivt och praktiskt svårhanterliga. Genom att göra situationen mindre komplex och tydliggöra kan eleven stödjas och lärande i den proximala utvecklingszonen bli möjligt. Den sociala kommunikationen kan utgöra en utmaning som kan kräva särskilda åtgärder för att fungera, som att pedagogen tar ansvar för att bygga trygga relationer och bemöter eleven med respektfull tydlighet.

This study investigated the effects of a precision teaching package on response rates of children with autism. Prior to both experiments a preference assessment was conducted to identify high preference activities for each participant. Experiment 1 investigated whether response rates would shift as a function of rate-contingent consequences during an academic task. Different activities were associated with different rates of responding. The experimental package of 1 minute timings, rate contingent consequences, and charting was successful in increasing the rates of responding when the most highly preferred activity was associated with high rates of responding. When the contingencies were switched and the most highly preferred activity was contingent on lower rates of responding, the participant's responding did not decrease. Experiment 2 was an attempt to replicate the results of Experiment 1 using a multiple baseline across tasks. The experimental package was not successful in increasing the rate of responding.

Earlier identification of autism allows for interventions to begin during toddlerhood. Literature suggests that parents are an important part of very early intervention and specific goals have indicated that they are important to progress. The use of telemedicine may increase access to interventions. The purpose of the study was to evaluate a parent-toddler training program that targeted social-communication skills and incorporated a telemedicine component. Measures included parent teaching targets, child attending, vocal requesting, and coordinated joint attention and the parent's response to coordinated joint attention. Results indicate that parent teaching increased, child attending and vocalizations increased, child coordinated joint attention increased, and the parent's response to coordinated joint attention was primarily social in nature. Analysis of the home observations indicates that direct in home observations or teleconference observations neither under or overestimated behaviors. The results are discussed in the context of teaching and feedback delivery and selection of teaching targets.

This nation-wide study investigated elementary school counselors (ESC) self-reported: (a) professional background and training; (b) general knowledge of autism spectrum disorders (ASD); (c) attitudes towards ASD; and (d) roles performed with students identified with ASD. Also investigated was the predictive relationships between professional background, training, knowledge, and attitudes on roles (counseling, consultation, curriculum, and coordination) performed with students identified with ASD. Descriptive statistics were utilized to address professional background, training, knowledge, attitude and characteristics of ESC participants. These variables were also examined in relationship to the four role types. Multivariate analyses of variance (MANOVA) and Pearson’s correlation coefficients were used to test for significant relationships. A series of four multiple regression analyses predicting each of the total roles scores for counseling, consultation, curriculum, and coordination were also conducted. Results of the study suggest (a) ESC have limited training experiences of ASD, leading to self-education about this population of students, (b) ESC possess general knowledge about ASD, (c) overall, ESC have positive attitudes towards ASD, and (d) ESC perform all conceptualized roles in the education of students with ASD. Regression models revealed eight predictors found to influence roles: total knowledge, attitudes, geographic setting, U.S. region, years practiced, conference training, self-education, and ASD caseload. Significantly associated with performing roles across all four domains was the number of students with ASD on ESC caseload.

Orientador: Marcia Maria Strazzacappa Hernandéz / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Educação / Made available in DSpace on 2018-08-27T17:17:58Z (GMT). No. of bitstreams: 1 Viana_AnamariaFernandes_D.pdf: 36775743 bytes, checksum: 6b927fdae6ebb618dbfcf6794c12545b (MD5) Previous issue date: 2015 / Resumo: Essa tese apresenta reflexões sobre a prática da dança improvisação sob o prisma do espaço com crianças e jovens ditos autistas na região da Bretanha francesa. Tem como base de constituição uma longa experiência de 18 anos como artista da dança atuante na interface entre arte, saúde e educação. A partir de relatos de vivências com os praticantes, seus familiares e profissionais da dança, da educação e da saúde mental, este estudo levanta questões ainda pouco exploradas no universo da dança e propõe outras formas de se relacionar com essas pessoas extraordinárias. Para isso, parte da ideia de que não se deve acolher o autismo como uma patologia incapacitante, mas como uma maneira singular e inventiva de ser no mundo. Entende-se que as pessoas ditas autistas não apenas têm a possibilidade concreta e o direito de realizar uma prática artística, como têm muito a nos ensinar. Logo, não se trata de um projeto terapêutico. O objetivo da pesquisa é colaborar com a formação do futuro profissional das áreas da arte, da educação e da saúde, oferecendo ferramentas para que possa criar sua própria metodologia a partir das invenções dos sujeitos com os quais irá trabalhar. A tese dialoga com diferentes interlocutores dentre os quais Paulo Freire, Laurence Louppe, Maurice Merleau-Ponty, Michel Foucault e Fernand Deligny. Dentre os elementos fundantes dessa dança destacam-se a escuta, a espera, o silêncio, o desapego, o não voluntarismo, a curiosidade, o desejo, o respeito, a assunção de uma certa postura que abraça ética e estética. Postura esta que envolve abandonos, seja da pretensão de guiar o outro num certo sentido, seja da elaboração de projetos premoldados. Desse modo, será o profissional quem irá, em seu dia a dia com o outro, inventar, a cada passo, novos caminhos / Abstract: This thesis presents a reflection on improvised dancing, in particular in relation with autistic children and teenagers in Britanny (France). It has as a basis eightenn years of experience as a dancer in fields such as art, health and education. From accounts based on experiences with the participants, as well as their family members and other professionals in the fields of dance, education and mental health, this thesis looks to raise questions which are yet to be fully explored in the dance world and offer other ways to relate and connect to extraordinary people. In order to make this possible, one mustn¿t see autism as a crippling pathology but rather a singular and inventive way of being. In fact, autistic people have not only the concrete possibily but the right to engage in artistic practice and have themselves a lot to teach us. For this reason, my work is not meant to serve a therapeutic purpose. The goal of this research is to collaborate with the formation of future professionals in a multitude of fields such as the arts, education and health, offering basic elements from which professionals can develop their own method based on creations from the people with whom they will work. The thesis dialogues with different interlocutors, such as: Paulo Freire, Laurence Louppe, Maurice Merleau-Ponty, Michel Foucault and Fernand Deligny. Among the founding elements of this dance, stand out the hearing, the waiting, the silence, the disattachment, the unforcefulness, the curiosity, the desire, the respect and the assumption of a certain posture which envelops ethics and esthetics. It is a posture which revolves around letting go; both of the idea of guiding someone in a certain direction and of the elaboration of unoriginal projects. For this reason, professionals will be the ones to determine and create - through their personal experience with others - in each step, new paths / Doutorado / Educação, Conhecimento, Linguagem e Arte / Doutora em Educação

Autism som diagnos och mediaskildringar av autism ökar enligt nationella och internationella studier. Samtidigt beskrivs överdiagnostik och medikalisering som ett dilemma i samhället. Diskurser inom likväl media som inom medicinska världen influerar både individer som identifierar sig som autistiska och hur de bemöts av andra personer. Syftet med studien var att undersöka hur autism och autistiska identiteter framställdes i interaktioner på svenska forumtrådar mellan personer som mer eller mindre identifierar sig som autistiska. Detta genom att urskilja de historiskt och kulturellt specifika språkverktyg de använde för att konstruera sig själva och autism.  För att göra det analyserades forumtrådsinteraktionerna genom diskurspsykologisk teori och metod. Resultat och analys visade på ett språkligt mönster vari autism konstruerades som positiva karaktärsdrag, som medicinsk sjukdom, som normavvikande samt som individualistisk. Autistiska identiteter som konstruerades var offret, den sjuke, den erfarne, den intelligente samt motståndaren. Studiens slutsats var därmed att aktörshandlingar i forumtrådar i nuläget genomsyras av varierande språkliga konstruktioner av autism och autistiska identiteter. Det kan ge fingervisning på dess potentiella påföljder för samhället och individerna som identifieras som autistiska.

Attention impairments are well documented in children with autism spectrum disorders (ASD). Under associative accounts of early word learning, the attention impairments in children with ASD preclude them from developing effective learning strategies. In this study we examined whether children with ASD utilize the same attention cues for learning as their unaffected receptive-vocabulary mates. In a word-learning task, we asked: 1) whether hearing novel and attention-grabbing words cued children to shift their attention to the speaker, and 2) whether the children followed the gaze of the speaker to determine the speaker's focus of attention. We taught novel words in two conditions. One condition provided maximal social-attention scaffolding; the examiner followed the focus of the child's attention. The other was less scaffolded; the examiner directed the child's attention to the target using eye gaze. We manipulated the number of objects present during teaching, two versus four, to examine the effect of non-social attention scaffolding with scaffolding here defined as a reduction in distractions. Fifteen-children with ASD (ages 36-91 months) were matched to fifteen unaffected children (ages 16-92 months) on the basis of receptive vocabulary (RVM group). The ASD group's performance differed from the RVM group's performance on one measure: shifting attention to the speaker upon hearing a novel or attention-grabbing word on the initial trial. On all other measures, the ASD group's performance did not significantly differ from the RVM group's performance. Although there was not a significant effect of condition, closer analysis revealed that in the RVM and ASD groups, only the consistent-gaze followers' performed better than chance on the word-learning tasks. We hypothesize that, when all else is equal, providing a label does not make the target distinct enough to support word-referent pairings for children who are not consistently attending to the speaker. Overall, the ASD group demonstrated greater within group variability in their attention than the RVM group. Gaze following was variable across (and within) the ASD group. The within subject variability suggests some children with ASD are slow to appreciate eye gaze cues in unfamiliar contexts.

The synapse is essential for normal neuronal communication and synaptic abnormalities could underlie many neuronal pathologies leading to such diseases as epilepsy and autism. Recent reports suggest that the Wnt signaling pathway is essential for normal synaptic development and function. However the role of specific Wnt ligands and their downstream signaling molecules play in synapse formation and function remain unclear. PRICKLE1 (PK1) and PRICKLE2 (PK2) are downstream Wnt signaling molecules which are suggested to play essential roles in neuronal function. PK1 was recently shown to be mutated in three large families with epilepsy, and Pk2 interacts with post-synaptic density 95 and subunits of the NMDA receptor. Although it seems clear that PK1 and PK2 are critical for normal neuronal function, their role in synaptic function and animal behavior remain to be investigated. In Aim1, we show that mutations in prickle (pk) genes are associated with seizures in humans, mice, and flies. We identified human epilepsy patients with heterozygous mutations in either PK1 or PK2. In overexpression assays in zebrafish, pk mutations resulted in aberrant pk function. A seizure phenotype was present in the Pk1-null mutant mouse, two Pk1 point mutant (missense and nonsense) mice, and a Pk2-null mutant mouse. Drosophila with pk mutations displayed seizures that were responsive to anti-epileptic medication, and homozygous mutant embryos showed neuronal defects. In aim 2, we describe two families with ASD-specific mutations in the non-canonical Wnt gene PK2. These mutations reduced the co-localization of the human PK2 protein with PSD-95, another protein implicated in ASDs. Studying Pk2 function in mice, we found that disrupting Pk2 in mouse hippocampal neurons reduced dendrite branching, synapse number, and post-synaptic density size. Consistent with these findings, disrupting Pk2 decreased the frequency and size of spontaneous miniature synaptic currents. Interestingly, these phenotypes were rescued by wild-type human PK2, but not the ASD-associated PK2 mutants suggesting that these mutations cause a critical loss of PK2 function. Behavioral studies in Pk2-/- mice suggest that loss of Pk2 function lead to ASD-like behaviors. These studies provide new insight into the biological roles of PK2, its behavioral importance, and firmly link non-canonical Wnt signaling abnormalities and ASDs. Together, Aim1 and 2 show that the Pk proteins are critical regulators of normal neuronal function and suggest that Pk2 could be a link between epilepsy and autism.

Epilepsy and Autism Spectrum disorders (ASD) are both complex neurodevelopmental disorders which share approximately 30% comorbidity. Epilepsy is characterized by unprovoked recurrent seizures and affects ~1% of the population while ASDs are characterized by deficits in language, social, and behavior and found 1 in 68 people. Variants in synaptic genes suggest disruptions in synaptic regulation underlie both conditions. PRICKLE1 and PRICKLE2 are known core WNT/ PCP genes implicated in Progressive myoclonic epilepsy in families and in the general population. Humans, mice, zebrafish, and Drosophila with disrupted Prickle exhibit epileptic behavior and other neurological deficits. Prickle is implicated in several aspects of neuronal development and mutated proteins display aberrant activity in vivo and in vitro. Recently, variations in PRICKLE1 were associated with ASDs in humans. The mechanisms by which PRICKLE could contribute to ASDs are unknown. Results presented here show Prickle1+/- mice exhibit ASD-like behavior. Prickle1 associates with Synapsin I; a phosphoprotein important for synaptogenesis, axonogenesis, and neurotransmitter release. Mutant R104QPRICKLE1 protein causes a reduction in sizes of dense-core vesicles in neuronal-like PC12 cells. Results indicate PRICKLE1 may be associated with ASDs and possibly involved in synaptic homeostasis. Prickle deregulation has also been associated with neural tube defects and cancers. The mechanism(s) by which Prickle is regulated is incompletely understood. To further elucidate the role of PRICKLE in disease, immunoprecipitates from PRICKLE-expressing stable tetracycline-regulated neuronal-like PC12 cells were identified by mass spectrometry. The deubiquitinating enzyme USP9X was identified as a novel interacting PRICKLE protein. USP9X is a substrate-specific deubiquitinating enzyme implicated in several aspects of neuronal development, associated with X-linked intellectual disability and a candidate gene for epilepsy. Results show that USP9X robustly deubiquitinates and protects PRICKLE from proteasomal degradation. USP9X variants found in the ARRA ASD cohort directly associates USP9X with ASDs. The identified USP9X mutations delete the PRICKLE-interacting domain and provide a possible mechanism for PRICKLE deregulation. Already a target for treating cancer, USP9X can serve as a therapeutic target to regulate PRICKLE levels.