Clefts of orofacial komplex are the most common birth development defects. One of them is Pierre Robin sequence, which is characterized by presence of micrognathia, glossoptosis and upper airway obstruction. Because of these symptoms, isolated cleft palate "U" or "V" shaped can be part of the diagnose. Other clinical manifestations are feeding difficulties, obstructive sleep apnea syndrome and / or gastroesophageal reflux disease. The aim of the treatment is to secure the airway and the child's thriving after birth by using conservative or invasive treatment methods. Choosing of methods and procedures should be established by multidisciplinary cooperation. The other part of diploma thesis is trying to find out, which clinical manifestation are the most common in patients from the Czech Republic compare to foreign patients and the differences in management of the treatment. Furthermore we are trying to investigate, whether there is higher percentage of patients with delayed neuromotor development among PRS patients, which are under physical therapy. The last part is trying to find out the relationship between the poor posture and PRS diagnose in children age 4 - 6 years.

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

Abstract This research explored, within the framework of relevance theory, how normally developing 3- to 9-year-old children and two age groups (age 7–9 and age 10–12) of children with Asperger syndrome or high-functioning autism (AS/HFA) and their 7- to 9-year-old control group used context when answering questions and giving explanations for their correct answers. The children were asked questions targeting the pragmatic processes of reference assignments, enrichments, routines, implicatures and feelings. They were also asked to explain their correct answers to routine, implicature and feeling questions to elicit understanding about their awareness of how they had derived the answers from the context. In normally developing children the largest increase in correct answers occurred between the ages of 3 and 4 in all question types except feeling questions, where rapid development continued until age 5. After that development progressed more gradually until the age of 8 when the children performed near the ceiling level in all of these question types. Giving explanations for correct answers developed gradually between the ages of 3 and 9, indicating that becoming aware of the information used in inferencing has a longer developmental timeframe. Children's incorrect answers and explanations showed that, as children develop, their answering strategies become more sophisticated as they increasingly utilise context in different ways. Children with AS/HFA were able to answer all the question types. However, compared to the control group, the younger AS/HFA group did less well when answering contextually demanding questions, and the performance of the older AS/HFA group fell in between the younger AS/HFA group and the control group. Both AS/HFA groups had difficulties when giving explanations for their correct answers, showing difficulty in articulating explicitly how they had used context in arriving at the correct answer. Incorrect answers and explanations indicated that, usually, all the children tried to utilise contextual information, although the attempt failed somehow. For children with AS/HFA it was more typical to continue with their answer after first giving a correct answer or explanation, which then led to an irrelevant answer, suggesting that these children had difficulties with stopping processing at the relevant point. / Tiivistelmä Tutkimuksessa tarkasteltiin, kuinka normaalisti kehittyneet 3–9-vuotiaat lapset ja kaksi ikäryhmää lapsia (7–9-vuotiaat ja 10–12-vuotiaat), joilla on Aspergerin oireyhtymä tai hyvätasoinen autismi (AS/HFA) ja heidän 7–9-vuotiaista koostuva kontrolliryhmänsä, käyttivät kontekstia vastatessaan kysymyksiin ja perustellessaan oikeita vastauksiaan. Tutkimus tehtiin relevanssiteorian viitekehyksessä. Lapsilta kysyttiin pragmaattista prosessointia vaativia kysymyksiä, jotka arvioivat viittausten, epätäydellisten lauseiden, rutiinien, implikatuurien ja tunnetilojen ymmärtämistä. Lisäksi heidän tuli perustella oikeat vastaukset rutiini-, implikatuuri- ja tunnekysymyksiin, jotta nähtiin, olivatko lapset tietoisia, kuinka he olivat johtaneet vastauksensa kontekstista. Normaalisti kehittyneillä lapsilla oikeiden vastausten määrä lisääntyi nopeasti 3. ja 4. ikävuoden välillä kaikissa kysymystyypeissä. Tunnekysymyksiin vastaamisessa tämä nopean kehityksen kausi jatkui 5. ikävuoteen saakka. Tämän jälkeen kehitys jatkui hitaampana 8 vuoden ikään saakka, jolloin lapset suoriutuivat lähes kaikista kysymyksistä kaikissa eri kysymystyypeissä. Perustelujen antaminen oikeisiin vastauksiin kehittyi asteittain 3. ja 9. ikävuoden välillä, mikä kertoi, että vastauksessa käytetyn informaation tiedostamisen kehittyminen tapahtui pitemmällä aikavälillä. Lasten virheelliset vastaukset ja perustelut osoittivat, että iän lisääntyessä lasten vastausstrategiat muuttuivat kehittyneemmiksi ja he hyödynsivät kontekstia monin eri tavoin. Lapset, joilla oli AS/HFA, osasivat vastata kaikkiin esitettyihin kysymystyyppeihin. Kuitenkin nuorempi AS/HFA-ryhmä suoriutui kontrolliryhmää heikommin ja vanhemman AS/HFA-ryhmän suoriutuminen sijoittui nuoremman ikäryhmän ja kontrolliryhmän suoriutumisen puoliväliin. Molemmilla AS/HFA-ryhmillä esiintyi vaikeuksia oikeiden vastausten perustelussa, mikä kertoi vaikeudesta ilmaista, kuinka he olivat käyttäneet kontekstia oikeaan vastaukseen pääsemiseksi. Virheelliset vastaukset ja perustelut osoittivat, että yleensä kaikki lapset pyrkivät kontekstin hyödyntämiseen vaikka epäonnistuivatkin siinä. Lapsille, joilla oli AS/HFA, oli tyypillisempää jatkaa vastaamista vielä oikean vastauksen tai perustelun antamisen jälkeen, mikä lopulta johti aiheesta syrjähtämiseen. Tämä kertoi vaikeudesta lopettaa prosessointi relevantissa kohdassa.

The diploma thesis deals with the care of a girl with Rett syndrome (RTT) in the family. The six main chapters and individual subchapters present the issues of Rett syndrome, the family of a girl with RTT and area of care for a girl with RTT. The first chapter of the diploma thesis presents the fundamental issues related to Rett syndrome with an outline of the history, definition, causes and manifestations. The prevalence and incidence, diagnosis and manifestations of RTT are presented. The following subchapters are devoted to the individual stages of Rett syndrome, their course and the issue of RTT in boys. The second chapter focuses on the issue of the family caring for a child with a disability, presents a definition of the family and the stages of acceptance of a child with a disability. The following subchapters present the complex care for a child with a disability and present an overview of possible forms of support for families of children with disabilities. The third chapter deals with selected areas of care that parents of girls with RTT often have to provide. The individual subchapters include the following areas such as hygiene, sleep, diet, mobility, communication and health care. The fourth chapter is the research survey itself, conducted qualitatively. The research aimed to find out...

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A qualitative case study research design is used to investigate the results of a neuropsychological test battery, collated and used with four individual cases. A literature study consisting of research with respect to AS as well as neuropsychological assessments provides the theoretical framework from which existing theory is tested and expanded on. The cases are analysed individually and then by cross case analysis to ascertain any patterns of strength and weaknesses which could result in a "typical" profile of a learner with AS. Findings conclude confusions with respect to diagnostic criteria for AS and a distinction of DSM-IV-TR criteria is used. The neuropsychological test battery includes questionnaires (personal history, Gilliam Asperger's disorder scale, Conners' parent and teacher questionnaire, Dunn's sensory profile) interviews (parents, teachers), observations (classroom and playground) and formal testing (intelligence, motor functions, academic achievement, theory of mind and executive functions). Findings from the literature show similarities between AS children and children with non verbal learning disabilities. Evidence of AS differing from individuals with high functioning autism is conclusive in all previous research using theory of mind tests. Evidence from the literature shows many children had been given another diagnosis, typically ADHD, before being given the diagnosis of AS. Additional disorders such as anxiety and depression were also given. AS children had consistent difficulties with social interaction. A typical neuropsychological profile of AS is not identified, but rather a "personality type" that is dominated by anxiety and individual "quirks" of personality which affects responses to the formal test battery - thereby influencing the scores obtained. Two of the cases presented with an academic profile similar to that of a non verbal learning disability and one presented with similarities with a semantic pragmatic disorder. The thesis concludes with a proposed differentiating model of behavioural, communication and learning disorders in which AS is defined in terms of that originally described by Hans Asperger himself, and specifically treated within the education environment. / Educational Studies / D.Ed. (Psychology of Education)

The thesis deals with problems of disabled pupils'education financing at secondary schools. Its aim is to create the integral survey about the disabled pupils'schooling, to compare and analyse normative financing of the most expanded educational specialization in accordance with regions. Theoretical part includes national educational concepts and programs directed at handicapped pupils. Besides detailed characterization of the health troubles'single types there are also described institutial schooling and normative financing of handicapped pupils. There are the analysed reports of MŠMT (Ministry of education and youth's psychical education) about handicapped pupils at the research part. Charts and graphs contain datas of pupils in the Czech republic according to health trouble's type, number of pupils at special classrooms and of integrated pupils during 2007-2012. The inseparable component of the research there is survey of pupils'schooling in accordance with the schools'promoters. Conclusion is devoted to detailed comparison of normative financing of the most expanded educational specialization 65-51-E/01 Stravovací a ubytovací služby (The board and accommodational service) in the first place for mental disabled pupils and pupils suffering with developmental disorders of learning and behaviour.

A qualitative case study research design is used to investigate the results of a neuropsychological test battery, collated and used with four individual cases. A literature study consisting of research with respect to AS as well as neuropsychological assessments provides the theoretical framework from which existing theory is tested and expanded on. The cases are analysed individually and then by cross case analysis to ascertain any patterns of strength and weaknesses which could result in a "typical" profile of a learner with AS. Findings conclude confusions with respect to diagnostic criteria for AS and a distinction of DSM-IV-TR criteria is used. The neuropsychological test battery includes questionnaires (personal history, Gilliam Asperger's disorder scale, Conners' parent and teacher questionnaire, Dunn's sensory profile) interviews (parents, teachers), observations (classroom and playground) and formal testing (intelligence, motor functions, academic achievement, theory of mind and executive functions). Findings from the literature show similarities between AS children and children with non verbal learning disabilities. Evidence of AS differing from individuals with high functioning autism is conclusive in all previous research using theory of mind tests. Evidence from the literature shows many children had been given another diagnosis, typically ADHD, before being given the diagnosis of AS. Additional disorders such as anxiety and depression were also given. AS children had consistent difficulties with social interaction. A typical neuropsychological profile of AS is not identified, but rather a "personality type" that is dominated by anxiety and individual "quirks" of personality which affects responses to the formal test battery - thereby influencing the scores obtained. Two of the cases presented with an academic profile similar to that of a non verbal learning disability and one presented with similarities with a semantic pragmatic disorder. The thesis concludes with a proposed differentiating model of behavioural, communication and learning disorders in which AS is defined in terms of that originally described by Hans Asperger himself, and specifically treated within the education environment. / Educational Studies / D.Ed. (Psychology of Education)

<p dir="ltr">This dissertation is a two-study dissertation divided into two chapters focused broadly on the help-seeking experiences of racial-ethnic minority caregivers of children with autism spectrum disorder (ASD). In chapter one, a systematic literature review was conducted to identify articles that have studied barriers in help-seeking for racial-ethnic minority caregivers of children with autism. A broad literature search across four databases was conducted (i.e., PubMed, PsycINFO, Education Resources Information Center, and Child Development and Adolescent Studies). The coding team identified 17 articles on help-seeking barriers for racial-ethnic minority caregivers of children with autism. A thematic analysis was then used to synthesize the help-seeking barriers identified across these 17 studies. Four themes emerged from our findings: logistical barriers, provider competence, ASD literacy, and cultural stigma. We also provided clinical recommendations for healthcare providers working with families with racial-ethnic minority caregivers of children with autism.</p><p dir="ltr">The second chapter was informed by the results found in chapter one. In chapter one, we found little research on Asian American caregiver perspectives on help-seeking barriers to autism services. Using caregiver perspectives, this research study sought to understand the help-seeking experiences of Asian American families. In this study, we conducted semi-structured qualitative interviews with 10 Asian American caregivers with a child aged 3-17 diagnosed with ASD. Interviews were conducted virtually, audio recorded, transcribed, and coded by three researchers. Data was analyzed using thematic analysis (Braun & Clarke, 2006). Our results indicated four themes in perceived barriers by Asian American caregivers of children with autism interviewees. Themes included: (1) logistical barriers, (2) provider level barriers competence, (3) ASD literacy, and (4) cultural stigma. We deliver clinical recommendations for providers to address the four barriers found in our study when working with Asian American families of children with ASD.</p>