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Yes / Background: The Diagnostic and Statistical Manual of Mental Disorders (DSM-V) issued new diagnostic criteria for autism spectrum disorders (ASD) which resulted in missing the diagnosis of some cases of Asperger’s syndrome (AS). This negatively affected the support received by those affected. In this study, we explored if AS could be biologically stratified from the broader spectrum through a gene co-expression network preservation analysis. Methods: We analysed the GEO microarray data of 24 individuals with Asperger’s syndrome and 72 individuals with autism. Then, we used a weighted gene co-expression network (WGCNA) pipeline to construct gene co-expression networks. We explored whether these modules share the same co-expression patterns between autism and Asperger’s syndrome using network preservation analysis. Results: Our results showed that all co-expression modules of autism are preserved into the Asperger’s syndrome. However, three modules of Asperger’s syndrome out of 30 modules were not preserved in autism. Gene enrichment analysis revealed that these modules were involved in chromatin remodelling, immune and neuroinflammatory response, synaptic and neuronal development. Brain enrichment analysis showed significant downregulation of neurodevelopment genes in different brain regions associated with impaired social recognition in Asperger’s syndrome. Conclusions: The identified genetic and molecular profiles suggest that Asperger’s syndrome, despite sharing numerous similarities with autism, possesses a distinct genetic profile that makes it a distinct subtype of autism. This distinction could have significant implications for the management and treatment strategies tailored to individuals with Asperger’s syndrome.

Made available in DSpace on 2016-01-26T12:51:39Z (GMT). No. of bitstreams: 1 simoneseccodarocha_dissert.pdf: 740139 bytes, checksum: cc3361e614f12885ebee89003ea2768c (MD5) Previous issue date: 2012-02-17 / Pervasive developmental disorders (PDDs) have symptomatic heterogeneity and a little known etiology, with the involvement of genetic and environmental factors. They are part of a group of five disorders, including Asperger syndrome (AS), which has the greatest diagnostic difficulty, because of the symptoms similar to other psychiatric conditions and also because of the lack of clarity with regard to diagnostic criteria included in the official classifications. This study evaluated the diagnostic context of AS. Forty-five individuals were investigated, 39 men and 06 women (6,5:1) with conclusive diagnosis of AS, confirmed by using a standard instrument. Parents or caretakers were interviewed according to a questionnaire designed by the author. On average, at the age of 3,3 symptomatic perception was observed by the parents (55%) but the first physical examination of children was only performed at the average age of 5,3.The time interval between symptomatic perception and conclusive diagnosis was 8,5 years, on average. The attention deficit disorder and hyperactivity (TDA/H-33,3%) was the most common diagnosis before obtaining a diagnosis of AS, in isolation or in combination with other diagnoses. The psychiatrist was responsible for the conclusive diagnosis in 77,8% of cases, on average, at the age of 11,8. The recommendations given by professionals who concluded the diagnosis of AS were: regular attendance to school (68,9%), considering seeing a psychologist (57,8%), making use of medicines (57,8%), considering seeing a speech-language pathologist (37,8%) and carrying out genetic evaluation (35,6%). The results revealed that: 1) symptoms of AS are usually noticed first by parents; 2) after considering the symptoms the first clinical examination of children is generally carried out at late age; 3) TDA/H in isolation or in combination with other diagnoses is the most frequent and mistakenly given to patients before the conclusion of AS, which is drawn late and is most frequently accomplished by a psychiatrist. In addition, the recommendations to instruct parents after the diagnosis of AS are unsatisfactory. Therefore, the diagnostic context of Asperger syndrome is complex and difficult, probably worsened by the lack of preparation of health professionals to detect the symptoms, aggravated by the lack of experts in the disorder or by the difficulties in the accessibility to specialized health professionals. / Os Transtornos Invasivos do Desenvolvimento (TID) têm heterogeneidade sintomática e etiologia pouco esclarecida, com envolvimento de fatores ambientais e genéticos. Compõem um grupo de cinco doenças, entre elas a Síndrome de Asperger (SA), a de maior dificuldade de diagnóstico, por compartilhar sintomas com outras afecções psiquiátricas e pela falta de clareza dos critérios diagnósticos contidos nas classificações oficiais. Este estudo avaliou o contexto do diagnóstico da SA. Foram investigados 45 indivíduos, 39 homens e seis mulheres (6,5:1), com diagnóstico conclusivo de SA, confirmado com a utilização de um instrumento padronizado. Os responsáveis foram submetidos a uma entrevista de acordo com um questionário construído pela autora. Em média, aos 3,3 anos houve a percepção sintomática por parte dos pais (55%) mas, apenas aos 5,3 anos em média, a criança realizou a primeira avaliação clínica. O tempo entre a percepção sintomática e o diagnóstico conclusivo foi, em média, de 8,5 anos. O diagnóstico mais frequente antes do de SA, foi de Transtorno do Déficit da Atenção e Hiperatividade (TDAH-33,3%), isolado ou combinado com outros diagnósticos. O psiquiatra foi o responsável pelo diagnóstico conclusivo em 77,8% dos casos, em média, na idade de 11,8 anos. As orientações oferecidas pelos profissionais que concluíram o diagnóstico de SA foram: frequentar escola regular (68,9%), procurar um psicólogo (57,8%), fazer uso de medicamentos (57,8%), procurar um fonoaudiólogo (37,8%) e realizar avaliação genética (35,6%). Os resultados mostraram que os sintomas da SA são primeiramente mais percebidos pelos pais, que a idade da primeira avaliação clínica relacionada aos sintomas geralmente é tardia, que o TDAH isolado ou combinado com outros diagnósticos, é o mais frequente e erroneamente recebido pelos pacientes antes da conclusão de SA, que é feita tardiamente, e na maior parte dos casos por um psiquiatra. Além disso, as orientações dadas às famílias após o diagnóstico de SA são insuficientes. Portanto, o contexto do diagnóstico de Síndrome de Asperger é complexo, difícil, possivelmente agravado pela falta de preparo dos profissionais da saúde em reconhecer os sintomas, falta de especialistas na doença ou pela dificuldade de acesso aos profissionais especializados.

In this investigative study the researcher studied the methods used to assess learners with Asperger syndrome in Grade R. A detailed, and in depth study was made of Inclusive Education and the current assessment methods, as well as research into which assessment methods have been proved successful when dealing with learners with Asperger syndrome. Derived from the literature study, interviews held and observations, the researcher concluded that learners with Asperger syndrome are very unique people, but need to be supported and helped to enable them to become worthy citizens within a community. Out of the information collected it became apparent during this intense study of a fairly limited scope, that it is very important that the facilitator has to create an unique development programme for each individual learner with Asperger syndrome. Only then each learner will be helped to develop to his or her full potential. The above facts generate recommendations towards the following: • The Department of Education • The primary school • The facilitator • The family • Further research / Teacher Education / M.Ed. ( Inklusiewe Onderwys)

<p>Syftet med denna kvalitativa studie var att undersöka hur elever med neuropsykiatriska funktionshinder upplever tiden i grund- och gymnasieskolan. Mina frågeställningar handlade om i vilka sammanhang eleverna upplevde svårigheter kopplade till funktionshindren, på vilka sätt skolan visade förståelse för dessa svårigheter, hur skolan löste de problem som uppstod, vad skolan kunde ha gjort mer samt vilka starka sidor hos eleverna som var betydelsefulla i skolan. Jag intervjuade sex ungdomar i åldrarna 18 - 21 år. Jag använde mig av halvstrukturerade intervjuer. Resultatet, som analyserades ur ett sociokulturellt perspektiv, visade att eleverna upplevde svårigheter i skolan i flera olika sammanhang. Stora klasser och störande ljud i klassrummet förvärrade elevernas koncentrationssvårigheter. Projektarbeten utan strikta ramar och att tvingas redovisa inför klassen utgjorde ett stort hinder för flera av eleverna, medan undervisning på för låg nivå ledde till bristande studiemotivation. Under högstadietiden upplevde eleverna stress och svårigheter att hitta till klassrummen. Annat som medförde problem var bland annat fobier, sömnstörningar och att delta i skolidrotten. Utanförskap och mobbing i elevgrupperna var vanligt förekommande. Även lärare utsatte eleverna för kränkande särbehandling genom utpekande handlingar, skuldbeläggande och bestraffningar. Eleverna upplevde att de oftast möttes av oförståelse och okunskap från skolan. Endast enstaka lärare visade förståelse. Skolans åtgärder sattes oftast in väldigt sent och lösningarna på problemen blev därför kortvariga. Vissa åtgärder gjorde till och med större skada än nytta. Eleverna berättade om sina starka sidor och menade att dessa hjälpte dem genom åren i skolan. Av resultatet framgick att mindre klasser, men också kunskap hos lärarna och förmågan att samtala med eleverna och lyssna på dem, är viktiga medel för att kunna ta tag i problemen på ett tidigt stadium och skapa en skola för alla.</p> / <p>The purpose of this qualitative study was to get knowledge of experiences of the years in compulsory school and upper secondary school by pupils with neuropsychiatric disabilities. The questions dealt with when and where in school the pupils had difficulties connected to their neuropsychiatric disabilities, in what way they were met with understanding for their difficulties, how the school solved the problems, what the school could have done more and what qualities the pupils possessed that helped in school. I interviewed six youngsters in the ages of 18 - 21. I used half-structured interviews. The result was analysed in a sociocultural perspective and showed that the pupils had difficulties in many ways at school. Big classes and noises in the classroom made their concentration difficulties worse. Projects in school without strict directions as well as appearances before the class became huge barriers for some of the pupils, while teaching at a too low level led to a lack of motivation. In upper level of compulsory school the pupils felt stress and difficulties in finding classrooms. Some other problems were phobias, insomnia and participating in school gymnastics. Bullying and exclusion from fellowship was usual. Even teachers were insulting the pupils by indicating them as outsiders, blaming them for their difficulties and punishing them. The pupils experienced that they were mostly met with misunderstanding and a lack of knowledge from the school. Just a few teachers were sympathetic. The school mostly took measures very late and the solutions therefore became short-lived. Some of the measures made the problems even worse. The pupils told me about their strong sides that helped them through school. The result showed that smaller classes as well as teachers knowledge and ability to converse and listen to the pupils are important instruments to be able to face the problems in an early phase and create a school for all kinds of minds.</p>

The purpose of this study was to research the therapeutic outcomes achieved by a five year-old boy with Asperger Syndrome (AS), by means of non-directive processes of child centred play therapy (CCP) and sand tray play therapy (STP). In this investigative-descriptive qualitative research design, a saturated, holistic, intrinsic single case study was used as research method. The therapeutic process, events and outcomes of a unique single case within the context of AS, non-directive play therapy and the interactional-pattern analysis (IPA), are described. This study was motivated by the fact that the researcher disposed of data for a unique single case study that could contribute meaningfully to the need for a research database that describes effective therapeutic interventions and outcomes with children with AS. From the perspective of Rogerian person-centred theory (RPT), the literature study focused on an integrated discussion of AS, CCP and STP by means of 17 interpersonal variables of the interactional-pattern analysis (IPA). The following data sources was investigated: interviews with parents and teachers; CCP-sessions of J recorded on video; photos of some of J’s STP-sessions and the therapists’ process notes. Triangulation was used to evaluate the various categories of therapeutic outcomes from different viewpoints and to give meaning to them. The conclusions indicated that this boy with AS had used the non-directive processes of CCP and STP to achieve various therapeutic outcomes in the areas of: imaginary play; dramatic play; social interaction with the therapist, parents, family, teachers, his peer group and with strangers; traumatic experiences during visits to the doctor and bath times; identification, expressing and regulating emotions; and minimising acting out behaviour. Therapeutic outcomes have been demonstrated in 8 IPA-variables, namely: empathy, defining of relationships, potential to evoke acceptance or rejection, sincere interest and congruent conduct, control, emotional distance, problem solving and aspects relating to the presenting problem. The conclusion was reached that the conduct of the boy with AS as well as his mother and the therapist, played a mutual role in achieving his therapeutic outcomes within the 17 IPA-variables. The unstructured process of the non-directive play (CCP and STP) was utilised by a young child with AS to achieve therapeutic outcomes that relate to his everyday existence. A final conclusion is that involving the boy’s mother in his therapy and utilising an adapted Filial play program, enabled the mother to make emotional contact with her son and to diminish conflict between them. Guidelines for therapists are suggested with regard to non-directive responding in therapeutic contexts as found in this study. Furthermore, the contribution of this research to Psychology as science and discipline, is presented. Limitations of this study are indicated and recommendations for further research are made. / Thesis (Ph.D. (Psigologie))--North-West University, Vaal Triangle Campus, 2013

This study sheds insight into the unique, daily struggles of individuals with Asperger Syndrome (AS) as they transition into adulthood. The majority of research available regarding individuals diagnosed with AS focuses on childhood experiences. What happens when these individuals age out of high school? What are their experiences with becoming independent, successful adults? This study elicited qualitative data concerned with individual experience from seven participants between the ages of eighteen and thirty years old. Data were collected through three face-to-face and four email interviews. Data were analyzed to identify specific challenges of adult life. All participants expressed challenges in social interaction, as well as successfully coping with stress in the areas of employment, education, and relationships. Results of this study offer a deeper understanding of the individual challenges individuals experience in young adult life.

<p>Syftet med studien är att är att studera skillnader i mottaglighet för emotionell smitta, anknytningsstilar och personlighets drag så som temperament och karaktär är hos personer diagnosticerade med Asperger jämfört med personer som inte har någon diagnos. Ett annat syfte är att studera samband mellan emotionell smitta, anknytningsstilar samt personlighetsdrag såsom temperament och karaktär. Åttioåtta försökspersoner deltog i enkät studien varav femton personer hade en Asperger diagnos och resterande sjuttiotre inte hade någon diagnos, i enkäten fick de svara på 293 påståenden som involverade emotioner, anknytning och personliga temperaments och karaktärsdrag. Samband och skillnader mellan grupperna undersöktes sedan. Resultatet visar att det existerar skillnader mellan grupperna. Studenterna är mer mottagliga för emotionerna arg än gruppen med Asperger diagnos. Individerna med en Asperger diagnos skattade sig högre i anknytningsstilen distans, sakorientering och relationsfixering än studenterna, studentgruppen tenderar att uppge personliga egenskaper som novelty seeking, reward dependent och cooperativeness i högre grad än gruppen med en Asperger diagnos. Existerande samband mellan emotioner, anknytning och personlighet visade sig. Studentgruppen visade högt samband mellan anknytningsstilen bifallsbehov och personlighetsegenskapen harm avoidance. Och Aspergergruppen visade högt sambandet mellan anknytningsstilen tillit och personlighetsegenskapen novelty seeking.</p> / <p>The aim of the present study is to study how the differences in susceptible for emotional contagion, attachment styles and personality features such as temperament and character within individuals diagnosed with Asperger syndrome and those individual who aren´t diagnosed. Eighty eight participated in the survey, fifteen of those had an Asperger diagnose. The survey contained 293 items involving emotions, attachment and temperament and character personality features. The result shows that differences exist between the groups in emotional contagion, attachment and personality. The students are more susceptible to angry emotions than the individuals with an Asperger diagnose. The individuals with an Asperger diagnose showed higher scores in the attachment styles distance, relation fixation and thing alignment than the students. The student group tends to state personal properties as novelty seeking, reward dependent och cooperativeness in a higher degree than individuals with an Asperger diagnose. The result also showed that there is an existing connection between emotions, attachment and personality. The group of students showed a high connection between the attachment style applause needs and the personality characteristic harm avoidance. In the Asperger group a high connection was showed between the attachment style thrust and the personality characteristic novelty seeking.</p>

<p>Abstract</p><p>The aim of this survey has been to achieve knowledge about Asperger syndrome. What does</p><p>this require of the pedagogue? How should the physical environment be designed in a</p><p>classroom for pupils with Asperger syndrome?</p><p>With qualitative interviews of one special pedagogue and one teacher in class 1-3, the level</p><p>of knowledge has become better about how pupils with Asperger syndrome cope with</p><p>situations in school, but also how the pedagogue can relate by being flexible and by practising</p><p>one’s occupational role professionally.</p><p>There is not a general method that works. It is the pupil on an individual basis who desides</p><p>her or his needs or their capabilities. As a pedagogue it is always walking a tightrope to find</p><p>the path and the solutions in different conflicts that will arise and support the pupils with</p><p>Asperger syndrome with tools to gain understanding for different social situations in the</p><p>classroom.</p> / <p>Sammanfattning</p><p>Syftet med undersökningen har varit att få kunskap om vad Asperger syndrom är, vilka krav</p><p>det finns på pedagogen och hur en fysisk miljö bör se ut för elever med Asperger syndrom.</p><p>Med kvalitativa intervjuer av en specialpedagog och en lärare i årskurs 1-3 har vetskapen</p><p>blivit större om hur elever med diagnosen Asperger syndrom klarar av situationer i skolan</p><p>men också hur man som pedagog kan förhålla sig, genom att vara flexibel och utöva sin</p><p>yrkesroll professionellt.</p><p>Det finns inte en given metod som fungerar, utan det är eleven som individ som avgör vad</p><p>just hon eller han behöver eller klarar av. Som pedagog är det en evig balansgång att finna</p><p>vägar och lösningar i olika konflikter som uppstår, samt att ge elever med Asperger syndrom</p><p>verktyg för att få förståelse för olika sociala situationer i klassrummet.</p>