Tic disorders can have a significant emotional and social impact on children and their families. There is increasing support for the use of parenting programmes in childhood conditions; however research into the applicability of such programmes in tic disorders is limited. This thesis therefore aimed to investigate the topic of parenting interventions in tic disorders. The thesis presents five chapters, written as a series of self-contained papers and prepared in accordance with selected journal submission guidance. Paper 1 is a systematic literature review of the implementation and effectiveness of behavioural parent training programmes across neurodevelopmental disorders. Twenty-two randomised controlled studies were included in the review. Neurodevelopmental disorders included attention deficit hyperactivity disorder, autistic spectrum conditions, intellectual difficulties and developmental disorders and tic disorders. Training programmes included Triple P, Barkley’s Defiant Children, Parent Child Interaction Therapy, New Forest Parenting, Parenting your Hyperactive Preschooler, Parents Plus Children, Preschoolers with Autism, Incredible Years and an idiosyncratic programme. Effects of interventions on child outcomes were examined alongside intervention characteristics and content. Results indicated robust evidence for effects of parent training on attention-deficit/hyperactivity difficulties and externalising difficulties, across neurodevelopmental disorders and training programmes. Evidence to support the effect of parent training on internalising, social and global difficulties across disorders was less robust, with fewer and inconsistent outcomes reported. Clinical and research implications resulting from the findings are discussed. Papers 2 and 3 present empirical studies. Both studies are Q-methodological investigations into opinions on parenting interventions in tic disorders. Q-methodology is a technique which enables participants’ subjective viewpoints to be grouped using by-person factor analysis. Views on the acceptability, effectiveness, feasibility and utility of parenting interventions were explored across parents of children with tic disorders (Paper 2) and professionals (Paper 3). Across both studies, seven main factors were identified (parents four, professionals three). Findings highlighted that interventions were generally considered acceptable, justified and perceived as needed. However, important differences in opinions were found within and between parent and professional groups, highlighting key clinical considerations for possible intervention format, delivery and content. Paper 4 provides a commentary of the clinical implications of these findings when the two studies are considered together, and provides guidance to further develop and implement interventions. Paper 5 presents a critical review, including discussion of the strengths, limitations and implications of the findings, alongside personal reflections on the research process.

Background: Fetal alcohol spectrum disorders (FASD), which are caused by prenatal alcohol exposure (PAE), affects people around the world. Certain communities in South Africa have among the highest reported incidences of fetal alcohol syndrome (FAS) in the world. Although PAE-related brain alterations have been widely documented, the mechanisms whereby alcohol affects the brain are not clearly understood. MRI relaxation parameters T1, T2, T2* and proton density (PD), are basic tissue properties that reflect the underlying biology. The present study aims to advance our understanding of how PAE alters the microstructural properties of tissue by examining PAE-related changes in these tissue parameters in adolescents with FASD. Methods: The final sample used in this study consisted of 53 children from a previously studied longitudinal cohort (Jacobson et al., 2008) and 12 additionally recruited subjects. Of the 65 participants, 18 were diagnosed with FAS or partial FAS (PFAS) and made up the FAS/PFAS group, 18 were diagnosed as heavily exposed non-syndromal (HE) and 29 were age matched controls. Subjects were scanned at the Cape Universities Body Imaging Centre (CUBIC) located at Groote Schuur Hospital on a 3T Siemens Skyra MRI. Structural images were obtained using the MEMPRAGE sequence. From these images T1, T2, T2* and PD parameter maps were constructed and segmented into 43 regions of interest (ROI) using Freesurfer, FSL and AFNI. Linear regression analyses were used to analyse group differences as well as correlations between parameter values and the amount of alcohol the mother consumed during pregnancy. Results: Significant T1 differences were found in the caudate, cerebellar cortex, hippocampus, accumbens, putamen, choroid plexus, ventral diencephalon (DC), right vessel and ventricles. Significant T2 differences were found in the caudate, brain stem, corpus callosum (CC), amygdala, cerebral cortex, choroid plexus, vessels and ventricles. Significant T2* differences were found in the cerebellar cortex, optic chiasm and ventricles. Significant PD differences were found in the hippocampus and left lateral ventricle. The exploratory nature of this study resulted in none of the results surviving FDR correction for multiple comparisons. Conclusions: Overall, our findings point to regional PAE-related increases in water content and cellular and molecular changes in underlying tissue of the anatomical structure. Exceptions were the right cerebral cortex, brain stem, hippocampus, amygdala and ventral diencephalon where our findings point to less free water and increased cell density, and cerebellar cortex where simultaneous reductions in T1 and T2* suggest the possibility of increased iron content. In highly myelinated white matter structures, such as the CC and optic chiasm, our results point to PAErelated demyelination, and possibly increased iron. These findings extend previous knowledge of effects of PAE and demonstrate that tissues are affected at a microstructural level.

No description available.

Autism diagnoses are on the rise and part of the explanation is that society is making increasing demands on us and our brains. Autism is largely about how we perceive and interpret our surroundings, so there should be opportunities to support people with autism through thoughtful architecture to reduce stress levels and save energy. What is autism-friendly architecture and what might it look like?  In this project, I have designed a service residence (a type of LSS accommodation) for adults diagnosed with autism. By reviewing relevant literature and reference projects on the topic, I have tried to find keys on how to design a home that can support a person with autism. The overall objectives of the design are to reduce stress, enhance the individual's independence and support social interaction. The architectural aspects I have mainly worked on to achieve this are daylight, views, visual connections and boundaries and the organisation of the programme. Since people with autism have, among other symptoms, a different sensory experience often being hyper- or hypersensitivity to sensory input, an autism-friendly architecture is very much about designing for the senses.  The conclusion is that accommodation suitable for a person with an autism diagnosis can suit most people. It’s more about avoiding certain things that may be experienced as disturbing in different ways by people with autism, rather than adding special features.

Die psychomotorische Entwicklungsstörung (neurodevelopmental disorder, Abkürzung: NDD) bezeichnet eine Gruppe von Erkrankungen, die auf Störungen des sich entwickelnden Gehirns und/oder des Zentralnervensystems pränatal bzw. in den ersten Lebensjahren zurückzuführen ist. Die Ursachen sind aufgrund der zeitlichen und räumlichen Komplexität der kindlichen Entwicklung vielfältig und sowohl auf exogene, genetische als auch (noch) unbekannte Ursachen zurückzuführen. Bisher konnten mehr als 1000 Gene, die im Zusammenhang mit kindlicher Entwicklung stehen, identifiziert werden. Doch trotz enormen Entwicklungen diagnostischer Möglichkeiten in den letzten Jahren, insbesondere im Bereich der Exom- und Genomsequenzierung, bleiben viele Fälle wegen einer großen genetischen Heterogenität und häufig unspezifischem Phänotyp ungeklärt. Man geht derzeit davon aus, dass nach wie vor tausende Gene unbekannt sind. Ziel der vorliegenden Arbeit ist die Identifizierung und Charakterisierung neuer bisher unbekannter NDD-Gene. Die Durchführung dieser Arbeit erfolgte mittels (in der Mehrheit Trio-) Exomsequenzierung von 130 Patient:innen mit NDD in Einzelfallanalysen. In einem ersten Schritt wurden alle Patient:innen individuell auf Varianten in bereits bekannten NDD-Genen untersucht. Bei 31 Fällen konnte eine solche Variante identifiziert, systematisch klassifiziert und der Phänotyp mit bereits beschriebenen Symptomen verglichen werden. In einem nächsten Schritt wurden die übrigen 99 Patient:innen hinsichtlich sogenannter Kandidatengene analysiert. Diese wurden anhand Expressionsmuster, Funktion, in silico Analysen, Literaturrecherche und Assoziation mit anderen neurologischen Krankheitsbildern ausgewählt und mithilfe eines Kandidatengen-Scoring-Tools standardisiert und systematisch priorisiert. In Austausch und Kooperation mit anderen Wissenschaftler:innen weltweit wurden ausgewählte Kandidatengene anschließend mittels funktioneller Analysen auf ihre Pathogenität hin untersucht. Von den insgesamt 99 Patient:innen konnten so in 48 Fällen insgesamt 60 Kandidatengene eruiert werden, von denen mittlerweile drei (POU3F3, MADD und TAOK1) publiziert wurden und für weitere drei (UNC13C, GABRA2 und NARS) funktionelle Analysen durchgeführt werden und kurz vor der Publikation stehen. Es zeigte sich, dass sich Einzelfallanalysen, die auf den ersten Blick vor allem nach zeitintensiver und kleinschrittiger Arbeit aussehen, im Vergleich zu großen rein statistischen Kohortenstudien als sehr ertragreich erweisen. Die bisher größte statistische Kohortenstudie, die über 30.000 Fälle umschloss, führte zur Identifizierung von 49 (0,15% der Fälle) neuen NDD-Genen. Hiergegen konnten beispielsweise in der hier vorliegenden Arbeit mit einer Kohorte von 130 Fällen schon mindestens drei (2,3% der Fälle) neue Krankheitsbilder beschrieben werden und weitere werden folgen. Somit stellt dies einen vielversprechenden Ansatz (min. 2,3% vs. 0,15%) zur Identifizierung von neuen NDD-Genen dar. Darüber hinaus zeichnete sich ab, dass das Kandidatengen-Scoring-Tool als geeignetes Werkzeug zur systematischen und standardisierten Priorisierung von Kandidatengenen genutzt werden kann, um eine Fokussierung auf Kandidatengene zu ermöglichen, die mit größerer Wahrscheinlichkeit krankheitsverursachend sind. So konnte beispielsweise dem Kandidatengen UNC13C, das eine maßgebliche Rolle beim molekularen und/oder positionellen „Superpriming“ spielt, trotz einer Kohortengröße von bisher nur vier Patient:innen weltweit, eine relevante Bedeutung zugeschrieben werden, was weiterführende Untersuchungen mittels funktioneller Analysen zur Sicherung der potenziellen Pathogenität ermöglichte.:1. Einleitung 1.1. Genetische Erkrankungen 1.2. Psychomotorische Entwicklungsstörung 1.2.1. Exogene Ursachen von NDD 1.2.2. Genetische Ursachen von NDD 1.2.3. Relevanz der Identifizierung von NDD-Genen 1.3. Strategien zur Identifizierung von neuen NDD-Genen 2. Ziel der Arbeit 3. Untersuchungskollektiv, Materialien und Methoden 3.1. Untersuchungskollektiv 3.2. Methoden 3.2.1. DNA-Isolierung 3.2.2. Next Generation Sequencing-Technologien 3.2.3. Filterungsschritte mit VARVIS und weitere Beurteilung 3.2.4. Systematische Klassifikation von Varianten 3.2.5. Kandidatengen-Scoring 3.2.6. Genematcher 4. Ergebnisse 4.1. Exomsequenzierung von 130 Fällen mit NDD 4.2. Mutationen in bereits beschriebenen NDD-Genen 4.3. Varianten in neuen NDD-Kandidatengenen 4.4. UNC13C-Varianten in vier Patient:innen mit NDD 4.4.1. Phänotypische Beschreibung der Patient:innen 4.4.2. Neurozelluläre Grundlagen von UNC13C 4.4.3. Molekulare Modellierung der Varianten 5. Diskussion 5.1. Identifizierung der genetischen Ursachen von NDD mittels NGS 5.1.1. Vergleich Einzelfallanalysen vs. Große Kohortenstudien 5.1.2. Identifizierung von Mutationen in bereits bekannten Genen für NDD 5.1.3. Identifizierung und Priorisierung von Mutationen in neuen NDD-Genen 5.2. UNC13C als Kandidatengen für NDD 5.3. Ausblick 6. Zusammenfassung 7. Verzeichnis 7.1. Abbildungsverzeichnis 7.2. Tabellenverzeichnis 8. Referenzen 8.1. Webreferenzen 8.2. Literaturverzeichnis 9. Anhang 10. Selbstständigkeitserklärung 11. Lebenslauf 12. Mitarbeit an Veröffentlichungen 13. Danksagung

Neuropsykiatriska funktionsnedsättningar är en grupp diagnoser som påverkar hur hjärnan hanterar information och kan ge svårigheter med koncentration, reglera uppmärksamhet, minne m.m. En metod som används för att ge stöd till personer NPF är Tydliggörande pedagogik. Tydliggörande pedagogik går ut på att beskriva händelser och omgivningen på ett sätt som personer med NPF lätt kan förstå. Metoder som används inom tydliggörande pedagogik är visuella scheman, arbetsordningar och visualisering av tid. Det här projektet har vidareutvecklat applikationen Vardag åt uppdragsgivaren Altran. Vardag implementerar ett visuellt schema för att ge stöd till personer med NPF. Denna uppsats beskriver utvecklingen av applikationen och vilka funktioner som finns i applikationen. Uppsatsen beskriver också funktioner som kan vidareutvecklas i applikationen. Applikationen kommunicerar med ett webb-API på en server för att synkronisera aktiviteter och bilder som tillhör schemat. De funktioner som har implementerats i applikationen under projektet är bilder som synkas till server, underaktiviteter, visuella teman, token autentisering till webb-API:et och datum för aktiviteter. Vardag är implementerad med React Native för att göra applikationen kompatibel med Android och IOS. / Neurodevelopmental disorders affect the way the brain handles information and can result in difficulties with concentration, shifting attention, memory and processing the surrounding environment. Clarifying pedagogy is a method that is used to support people with neurodevelopmental disorders.  Clarifying pedagogy aims to describe the environment and events clearly to the people with neurodevelopmental disorders. Aid included in clarifying pedagogy is schedules, checklist and time visualisations. This project is continuing the development of the Vardag-application for the company Altran. Vardag implements schedules in an application to help people with neurodevelopmental disorders. Vardag is implemented with React Native to make the application compatible with IOS and Android. A web API was developed and used to communicate between the application and the server.  During this project the features upload image, sub activities, visual themes and activities on a specific date was implemented.

Submitted by Renata Lopes (renatasil82@gmail.com) on 2017-08-24T17:29:48Z No. of bitstreams: 1 leandrovespolicampos.pdf: 1925979 bytes, checksum: a437d2a7a7488eca8d27ad667669795d (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2017-08-25T11:53:35Z (GMT) No. of bitstreams: 1 leandrovespolicampos.pdf: 1925979 bytes, checksum: a437d2a7a7488eca8d27ad667669795d (MD5) / Made available in DSpace on 2017-08-25T11:53:35Z (GMT). No. of bitstreams: 1 leandrovespolicampos.pdf: 1925979 bytes, checksum: a437d2a7a7488eca8d27ad667669795d (MD5) Previous issue date: 2017-06-26 / FAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Gerais / O Hypericum perforatum (HP) é uma espécie utilizada classicamente como um fitoterápico antidepressivo e ansiolítico. Seus diferentes compostos (hipericina e hiperforina) proporcionam muitos outros efeitos, tais como: antinociceptivo e anticonvulsivante. O objetivo desta tese foi investigar a passagem do extrato hidro-alcoólico de H. perforatum pelas barreiras placentária e hematoencefálica fetal e seus prováveis efeitos antinociceptivo, anticonvulsivante, ansiolítico e antidepressivo sobre os descendentes ao atingirem a idade adulta. Para isto, ratas Wistar receberam doses de 36, 72 e 144 mg/kg de HP ao longo de toda a gestação, por via oral. A fluorescência observada demonstrou a presença do extrato de HP em todos os tecidos analisados tanto das ratas gestantes, quanto dos fetos. Testes para avaliação da atividade antinociceptiva e anticonvulsivante do extrato de HP foram realizados em ratas F1 adultas, as quais apresentaram aumento de ambas as respostas. Testes para avaliação das atividades ansiolítica e antidepressiva do extrato de HP foram realizados com ratos F1 adultos, resultando também em aumento desses efeitos. Estes resultados sugerem que a administração de HP durante a gestação provocou mudanças no neurodesenvolvimento de regiões cerebrais relacionadas com o controle da dor, convulsão, ansiedade e depressão em seus descendentes. / Hypericum perforatum (HP) is a classically used species as an antidepressant and anxiolytic herbal remedy. Its different compounds (hypericin and hyperforin) provide many other effects, such as: antinociceptive and anticonvulsive. The objective of this thesis was to investigate the passage of the hydroalcoholic extract of H. perforatum through placental and fetal blood-brain barrier and the probable antinociceptive, anticonvulsive, anxiolytic and antidepressant effects on offspring as they reach adulthood. Wistar rats received oral doses of 36, 72 and 144 mg/kg of HP throughout gestation. The observed fluorescence indicated the presence of the extract in all tissues analyzed from both pregnant rats and fetuses. Tests for evaluation of antinociceptive and anticonvulsant activity of HP extract were performed on adult F1 rats, which showed an increase in both responses. Tests for evaluation of anxiolytic and antidepressant activities of HP extract were performed on adult F1 rats, also resulting in an increase in these effects. These results suggest that the administration of HP during gestation caused changes in the neurodevelopment of brain regions related to the control of pain, seizure, anxiety and depression in their offspring.

This research explores the need for a unique, self-help manual to provide music students with diagnoses of dyslexia under the umbrella of specific learning disorder (SLD) and/or attention-deficit/hyperactivity disorder (ADHD) a positive way of coping with their musical tendencies. Dyslexia and ADHD are the most prevalent, comorbid neurodevelopmental disorders with symptoms affecting academic, social, and/or personal life. Musical symptoms could include difficulties in any of the following areas: notation reading; time, pulse, and rhythm; posture; fingering coordination; memorization; sight-reading; organization of thoughts, time, and materials; spatial and directional awareness; focused attention; retention of new concepts; positive attitude; and the ability to process written and/or oral information quickly and accurately. This dissertation includes scientific information related to the conditions; an analysis of musical tendencies; pedagogical approaches; personal anecdotal stories that serve to illustrate scientific concepts; and a self-help manual. The manual, "Music, Dyslexia, and ADHD: A Self-Help Manual for Students with Exceptionalities," is a colorful, accessible resource that begins to fill the self-help gap in the musical instruction literature for students with dyslexia and/or ADHD. It offers useful information, multisensory/multimodal techniques, and coping strategies to empower students with these learning differences to achieve more rewarding, independent success throughout their musical studies.

This essay consists of a review of 34 scientific articles. The aim is to describe and compile current research about students with intellectual disability (ID) and neurodevelopmental disorder (NDD). The research questions focus on what challenges for learning and teaching the diagnoses imply, if there are any differences between girls and boys, and how the learning environment may be adapted for these students. The theoretical framework in this study consists of gender theory and social constructions. The results show that many students with ID also have diagnoses within NDD and that it affects the students’ executive, adaptive and social abilities. Girls show other symptoms than boys, but there tends to be fewer differences when the students have a severe ID. Girls are often quieter than boys and seem to have better social skills, while boys more frequently have challenging behaviour. The differences contribute to boys receiving more support in school and that they are referred to neuropsychiatric assessment at an earlier age. Girls however are more difficult to discover, which causes that girls often receive a diagnosis later than boys. Considerably more boys than girls get a diagnosis within NDD; research has for many years focused on boys’ symptoms, which has affected the formation of the diagnostic tools. The result shows that there is a huge need of adapting the education to each student’s ability and level of knowledge with help from a clear structure in a calm setting with few disturbances. The students need support in developing their executive, adaptive and social skills. Early interventions have shown to be of great importance. Regardless of cognitive level, pedagogues need to have high expectations on the students, encourage them and give them the support they need. The students may for example need longer time, rehearsal or that the exercises are divided into smaller parts. The result indicates that students with disabilities have the best opportunity for development when they are together with students in general education. / Den här forskningsöversikten består av en granskning av 34 vetenskapliga artiklar. Syftet är att beskriva och sammanställa aktuell forskning om elever som har IF och NPF. Frågeställningarna fokuserar på vilka utmaningar för lärande och undervisning diagnoserna innebär, om det förekommer några skillnader mellan flickor och pojkar samt hur lärmiljön kan anpassas för dessa elever. Det teoretiska ramverket i studien utgörs av genusteori och sociala konstruktioner. Resultatet visar att många elever med IF har diagnoser inom NPF och att det påverkar elevernas exekutiva, adaptiva och sociala förmågor. Flickor uppvisar ofta andra symtom än pojkar, men skillnaderna tenderar att vara mindre vid svår eller grav IF. Flickor är i regel tystare än pojkar och verkar ofta ha en högre social kompetens, medan pojkar i högre utsträckning är utåtagerande. Skillnaderna bidrar till att pojkar ofta får mer stöd i skolan och att de utreds i ett tidigare skede. Flickor är däremot svårare att upptäcka, vilket bidrar till att flickor ofta får diagnos senare än pojkar. Betydligt fler pojkar än flickor får diagnos inom NPF; forskning har i många år utgått från pojkars symtom, vilket har påverkat utformandet av utredningsverktygen. Resultatet visar att det finns ett stort behov av att individanpassa undervisningen utifrån elevernas förmågor och kunskapsnivå med hjälp av tydlig struktur i en lugn miljö med få störande moment. Eleverna behöver stöd för att utveckla sina exekutiva, adaptiva och sociala förmågor. Tidiga insatser har visat sig vara av stor betydelse. Oavsett kognitiv nivå krävs att pedagoger möter eleverna med höga förväntningar och uppmuntran samt ger dem det stöd de behöver. Exempelvis kan det handla om att få längre tid på sig, repetition eller att uppgifterna delas upp i mindre delar. Resultatet indikerar att elever med funktionsnedsättningar har störst möjlighet att utvecklas tillsammans med elever inom reguljär skola.

Irrespective of the great individual variation, people diagnosed with RTT largely rely on support from others to be able to do and participate in activities throughout their lives. This thesis focuses on which activities are done and liked/disliked by girls and women with RTT in Sweden. The overall aim was to describe the everyday lives of female individuals with Rett syndrome. Two studies are included in this thesis. The first is a descriptive study, using secondary data from three earlier questionnaires, encompassing data from 175 participants (girls/women) described by 365 informants (parents/staff). Content analysis was used to analyse the openended questions. In the second study a Time-geographic diary method and the software VISUAL-TimePAcTs computer program, DAILY LIFE 2011 were used. Ten participants (teenagers/young female adults) with RTT and their 63 informants participated in the diary study. The main findings in the first study (I) were that the girls and women with RTT enjoyed activities that included aspects of ‘contact’, ‘sensory impression’ and ‘motion’. The activities most enjoyed over the years were bathing/swimming, listening to music or being outdoors/walking. The parents and staff also liked to do the same activities that the girls or women enjoyed doing, described as sharing their joy. Of the few activities that were reported as being unenjoyable, most were daily care activities. The diary study (II) showed that the most frequently reported activities were hygiene/toilet, moving around indoors, eating and getting dressed. Most time was spent in sleeping, daily care, medical and health care activities and also for travel/transportation. Little time remained for other kinds of activities especially for the young adults. Most time was spent with staff, thereafter with families, and the least time was spent with friends. The participant response that was reported most often during activities was ‘interested’, while ‘opposed’ was the least reported. Responses of ‘opposition’ were primarily seen during caring activities such as toileting, using the breathing mask, stretching, brushing teeth, being woken up, dressing and putting on orthoses. Responses of ‘engagement’ were noted in contexts of socialising, playing and communicating activities with friends or staff. Engagement responses were also reported during activities of ‘motion’ such as changing body position, moving in the water or gymnastics, eating food and snacks, and even when watching/listening to films, books or music. Thus, increased knowledge concerning the importance of activities for girls and women with RTT is essential for their well-being, participation and continued development. Increased knowledge could facilitate the choice of activities and a more varied use of activities. Regardless of age, severity of symptoms or developed skills, it is important that not only basic needs such as sleep, daily care and medical health care activities are fulfilled for individuals with Rett syndrome. It is also essential for them to spend time with friends, family and staff doing enjoyable activities both at home and in other places. / <p>Funding:</p><p>Linnéa and Josef Carlsson’s Foundation, Helsingborg, Sweden and the Folke Bernadotte Foundation, Stockholm, Sweden.</p>