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>

The purpose of this study was to develop an understanding of how social secretaries in childwelfare service (CWS, in swedish BoF) work with children with symptoms ofneurodevelopmental disorder (NDD, in swedish NPF) and how they experience that the longcare queues at Child and Adolescent Psychiatric Services (CAP, in swedish BUP) affect theirwork. The empirics were collected through six semi-structured interviews with socialsecretaries from CWS in six different municipalities in a county in Sweden. The empirics wereanalyzed through a qualitative content analysis, and the professional logic has been used as atheoretical framework in the analysis of the results. In summary, the study showed that thesocial secretaries felt that they often came into contact with children with NDD problems. It isfurther explained that, based on their area of responsibility, they handled different problems inthe child's social situation. The results also showed that social secretaries experienced that theyhad many different opportunities to handle these children's social situation. However, the socialsecretaries wanted more alternatives of interventions directly to the child and that they couldwork more preventively and less in an emergency situation. The social secretaries' workclimate, workload and cooperation between the two organizations are some examples of areasthat the results showed were negatively affected by the care queues for CAP. One conclusionwas that social workers did not experience working differently with children with suspected ordiagnosed NPF, in comparison with other children. Their work was instead guided by the child'sneeds. Another conclusion is that the social secretaries had different experiences about how thecare queues affected their work. The results of the study provided valuable experiences fromthe social secretary and invited further studies of the staff on CAP's experiences, in order tothen solve the problem areas that are also highlighted in the study. / Syftet med denna studie var att utveckla förståelsen för hur socialsekreterare på Barn-ochfamiljeenheten (BoF) arbetar med barn med misstänkt eller diagnostiserad neuropsykiatriskfunktionsnedsättning (NPF) samt hur de upplever att de långa vårdköerna till Barn- ochungdomspsykiatrin (BUP) påverkar deras arbete. Empirin insamlades genom sexsemistrukturerade intervjuer med socialsekreterare på BoF i sex olika kommuner i ett län iSverige. Empirin analyserades genom en kvalitativ innehållsanalys, och den professionellalogiken användes som teoretisk utgångspunkt vid analys av resultatet. Sammanfattningsvisvisade studiens resultat att socialsekreterarna upplevde att de ofta kom i kontakt med barn medNPF-problematik. Vidare förklarades att de utifrån sitt ansvarsområde hanterade olika problemi barnets sociala situation. Resultatet visade även att socialsekreterare upplevde sig ha mångaolika möjligheter att hantera dessa barns sociala situation. Socialsekreterarna önskade dock fleralternativ av insatser direkt till barnet och att de kunde arbeta mer förebyggande och mindre iett akut läge. Socialsekreterarnas arbetsklimat, arbetsbelastning och samarbetet mellan de tvåorganisationerna var några exempel på områden som resultatet visade påverkas negativt avvårdköerna till BUP. En slutsats var att socialsekreterare inte upplevde sig arbeta annorlundamed barn med misstänkt eller diagnostiserad NPF, i jämförelse med andra barn. Deras arbetestyrdes istället utifrån barnets behov. Ytterligare en slutsats är att socialsekreterarna hade olikaupplevelser om hur vårdköerna påverkade deras arbete. Studiens resultat gav värdefullaupplevelser från socialsekreterare och inviterade till vidare studier av personalen på BUP:supplevelser, för att sedan lösa de problemområden som också har lyfts i studien

The neocortex is considered the seat of higher cognitive function in humans. It develops from a sheet of neural progenitor cells, most of which eventually give rise to neurons. This process of cell fate determination is controlled by precise temporal and spatial gene expression patterns that in turn are affected by epigenetic mechanisms including Polycomb group (PcG) regulation. PcG proteins assemble in multiprotein complexes and catalyze repressive posttranslational histone modifications. Their association with neurodevelopmental disease and various types of cancer of the central nervous system, as well as observations in mouse models, has implicated these epigenetic modifiers in controlling various stages of cortex development. The precise mechanisms conveying PcG-associated transcriptional repression remain incompletely understood and are an active field of research. PcG activity appears to be highly context-specific, raising the question of species-specific differences in the regulation of neural stem and progenitor regulation. In this review, we will discuss our growing understanding of how PcG regulation affects human cortex development, based on studies in murine model systems, but focusing mostly on findings obtained from examining impaired PcG activity in the context of human neurodevelopmental disorders and cancer. Furthermore, we will highlight relevant experimental approaches for functional investigations of PcG regulation in human cortex development.

I den här studien intervjuas fem personer som är yrkesverksamma inom verksamheter med konstnärligt skapande som inriktning för personer med neuropsykiatriska funktionsvariationer (NPF) och/eller utvecklingsstörning. Syftet med studien är att belysa konstnärligt skapande som verktyg kopplat till ökade krav på evidensbaserad praktik i gruppverksamheter riktade till personer med NPF och/eller utvecklingsstörning. Forskningsfrågorna avser därför att ge svar på vilka funktioner metoden konstnärligt skapande fyller som verktyg i gruppverksamheter riktade till personer med NPF och/eller utvecklingsstörning, hur dessa funktioner kan förstås samt om de kan/bör leva upp till krav på evidensbaserad praktik. Resultatet bygger på fem semistrukturerade intervjuer som har kodats och analyserats med fenomenologisk tematisk analys. Det teoretiska ramverket består av den salutogena modellen med fokus på ”en känsla av sammanhang” och Jonna Bornemarks perspektiv om ”att mäta det omätbara”.   Metoden konstnärligt skapande används frekvent i verksamheter riktade till målgruppen men samtidigt finns brister när det kommer till kvantitativ forskning för att stödja metodens effekter. Informanterna menade att den subjektiva upplevelsen av metoden är svår att mäta men att de själva upplever att konstnärligt skapande har många fördelar för den specifika målgruppen. Under studiens gång beskrev informanterna aspekter som väl stämde överens med vad som ryms inom den salutogena modellen. De gav uttryck för att det konstnärliga skapandet som metod bidrog till inkludering, kognitiv förstärkning, ökad självkänsla samt att det kunde fungera som ett alternativt kommunikation- och samtalsverktyg. / In this study, five people are interviewed who work professionally in activity groups with creative arts as a focus for people with neurodevelopmental disorders (DSM-5) and / or developmental disorder. The purpose of the study is to investigate the professionals' view of creative arts as a method in the work with the target group, and also their view of creative arts linked to the increased requirement for evidence-based practice. The questions of this research therefore intend to provide answers to what functions creative arts as a tool can have in group activities for people with DSM-5 and / or developmental disorder. We also intend to research how we can understand creative arts as a method and if/how the method should be mesured in relation to an increased requirement for evidence-based practice. The result is based on five semi-structured interviews that have been coded and analyzed with phenomenological thematic analysis. The theoretical framework is based on the salutogenic model and Jonna Bornemarks perspective on "measuring the immeasurable". The method of creative arts is frequently used in group activities for the target group, but at the same time there are deficiencies in the quantitative research bass to support the effects of the method. The respondents argued that the subjective experience of the method is difficult to measure, but that they themselves feel that creative arts has many advantages for the specific target group. During the study, the respondents described aspects that were well in line with what is included in the salutogenic model. The practitioners expressed that creative arts as a method contributed to community, cognitive reinforcement, increased self-esteem and that it could function as an alternative means of expression.

The aim of the study is to contribute knowledge and increase the understanding of teaching dance to students aged 16-18 with autism and ADHD in upper secondary school in Sweden by investigating teachers understanding of adaptation and the reason for students experiencing difficulties related to their diagnosis. The study also investigates the different strategies used by the teachers to adapt their teaching. The study uses a qualitative method and empirical data was collected through semi-structured interviews with four dance teachers. The data was analysed within the framework of a sociocultural perspective using concepts such as mediation, affordance and intellectual tools defined as given models for thinking. The results of the study show firstly that teachers’ understanding of different ways to adapt teaching and ways of understanding the reason for students experiencing difficulties, affects how they adapt and design their teaching. Secondly the study shows that the strategies used by the teachers mainly strives for making the teaching clear and predictable, to improve students’ self-esteem and to build good relationships to the students, and among the students. The study concludes that more knowledge about the subject is needed to further support the teachers in their work.

<p>The manifestations of early sleep disturbances on cerebrospinal fluid and their relations with early developmental competencies are understudied. Recent studies highlight cerebrospinal fluid disbursement as a potential factor associated with dysfunctions in brain development. With two studies, we explored sleep and extra-axial cerebrospinal fluid (EA-CSF) connection as a potential mechanistic pathway by which sleep dysregulation influences brain and behavior development. Specifically, we evaluated associations between (1) EA-CSF to total cerebral volume (EA-CSF/TCV) ratios, (2) parent-report of child sleep problems, and (3) social communication development in typical (Study 1) and atypical populations (Study 2). In typical infants, early sleep problems did not precede later elevated EA-CSF/TCV ratios or social-communicative competence. Elevated EA-CSF/TCV ratios were associated with impaired social communication skills, suggesting that a relationship between elevated EA-CSF/TCV ratios and social communication impairments exists regardless of neurological or sleep problems. In an atypical population with autism spectrum disorder (ASD), older children with ASD had similar EA-CSF/TCV ratios to a group of their typically developing peers. Sleep problems were negatively associated with EA-CSF/TCV ratios but positively associated with social-communicative impairments for children with ASD, highlighting the influence of sleep problems on both brain and behavioral outcomes in an atypical population. In both studies, EA-CSF volumes continue to increase during early development in the typically developing populations (but not later in the atypical sample), underlining its relevance as a marker of atypical processing. Recognizing the potential roles of EA-CSF in influencing several biosocial and behavioral aspects of development, we encourage researchers to continue to explore EA-CSF growth, especially during developmental periods of flux and transition. Future work with longitudinal data can also serve to explore sleep-related developmental changes in EA-CSF, in association with behavioral and phenotypic changes. </p>