People who live with Type 1 diabetes (T1D) have to carefully self-administer insulin to keep blood glucose levels in a safe healthy range – a complex and demanding task (WHO, 2016). Social support has been found to alleviate diabetes-stress and increase management behaviors (Mackey et al., 2016). Social support from family members is especially advantageous, however currently no single family-based intervention has been established to show reliable improvements in T1D outcomes (Rosland et al., 2010). A review of the literature reveals that social support promoting autonomy is associated with the best T1D outcomes; social support that undermines autonomy is associated with worse T1D outcomes (Kelly & Berg, 2018). These findings are consistent with the self-determination theory (SDT), which identifies autonomy as a psychological need (Ng et al., 2012). The findings of this literature review support the need for a disease-specific family-based intervention that is built on the foundations of SDT.

Conduct disorder (CD) is a psychiatric syndrome in childhood and adolescence that is one of the most common childhood disorders with continuously increasing prevalence but uncertain pathogenesis. We performed a genome-wide, family-based association study of CD using P2BAT/FBAT software. The data is gathered from Collaborative Study on the Genetics of Alcoholism (COGA) and International Multi-Center ADHD Genetics Project (IMAGE). Using COGA data, we identified 20 markers which showed suggestive associations (p<10-3) with CD. Nine of them are located in known genes. Two genes, ADAM10 and CAMK2A, which had been reported associated with Alzheimer's disease (AD), bipolar disorder, and depression, were of more concern. Using IMAGE sample, our results were well replicated. This study identified several CD associated genetic variants, especially two novel candidate genes. These findings may serve as a resource for replication in other populations to elucidate the potential role of these genetic variants in CD.

Introduction. Anorexia nervosa (AN) is an eating disorder with one of the highest mortalityrates of all psychiatric illnesses. One county hospital in Sweden has seen an increase in theprevalence of adolescent AN over the last year. To meet these heightened demands, thecounty’s child and adolescent psychiatric (CAP) clinic established a new level of care for thesepatients. The main component of the intervention was mealtime support. Aim. The aim of the study was to evaluate the experiences of adolescent patients and theirparents regarding a day-patient treatment for AN in a county hospital in Sweden. Methods. Patients and their legal guardians were interviewed separately or in dyads, accordingto their wishes. An interview guide with open-ended questions was used. The audio files weretranscribed verbatim, and the texts were then studied with inductive content analysis. Fivepatients and nine parents from seven different families participated in the study. Results. The participants painted a nuanced picture of the intervention. The four overarchingthemes that emerged were ambivalence, distinguishing the person from the disease, parentalstruggling and perceptions of the treatment and the staff. Strict rules around food combinedwith an empathetic and flexible attitude towards the child were described as successful carestrategies. The treatment was depicted as time-consuming and strenuous, but parents alsoexperienced the intervention as relieving. Conclusions. The intervention was for the most part experienced as well-functioning, and theintensive nature of the treatment was described as a key factor.

No description available.

<p>The breakdown of self-tolerance is the main driving force behind susceptibility to SLE. When this occurs, T and B cells are activated in an uncontrolled manner and produce autoantibodies against self fragmented DNA, RNA and sometimes other parts of the cell such as cardiolipin, phosphatidylserine, etc.</p><p>The mechanism behind the breakdown of self-tolerance may be genetic factors that are triggered by environmental factors. SLE is not caused by a single gene, but by many genes, and is thus a polygenic disease. So far only a few genes have been found to be associated with SLE including PDCD1, FcγRs, and PTPN22. The main aim of my thesis is to find susceptibility genes responsible for SLE.</p><p>Recently, a gene called IRF5 was found to be associated with SLE. In paper one, we performed a thorough study and confirmed its association to SLE. In addition, we found a few other SNPs in the gene that were associated to the disease. Among them, SNP rs2004640 is very strongly associated and was found to affect the splicing of the gene. Another SNP, rs2280714, correlated with overexpression of the gene, although SNP rs10954213 was much more highly correlated with expression adding to this, in paper two we found a few other SNPs that were associated to SLE and played crucial roles in gene function. An indel in exon 6, though not associated by itself, regulated which isoforms were expressed. Individuals with 2 repeats expressed isoforms V1 and V4, while individuals with 4 repeats expressed isoforms V5 and V6. SNP rs2070197 was also very strongly associated, but did not have a functional role. In paper three, the same polymorphisms were studied in a Mexican population, which showed an even stronger association when compared to a European population.</p><p>It is known that autoimmune diseases share susceptibility genes, therefore we wanted to see if the IRF5 gene is associated with any other autoimmune diseases. In papers four and five, we tested its association to RA (using three sets of patients and controls from Sweden, Argentina and Spain) and psoriasis (using a set of patients and controls from Sweden). Association was not found in either of the diseases. Therefore, we believe that this association may be SLE-specific.</p>

The breakdown of self-tolerance is the main driving force behind susceptibility to SLE. When this occurs, T and B cells are activated in an uncontrolled manner and produce autoantibodies against self fragmented DNA, RNA and sometimes other parts of the cell such as cardiolipin, phosphatidylserine, etc. The mechanism behind the breakdown of self-tolerance may be genetic factors that are triggered by environmental factors. SLE is not caused by a single gene, but by many genes, and is thus a polygenic disease. So far only a few genes have been found to be associated with SLE including PDCD1, FcγRs, and PTPN22. The main aim of my thesis is to find susceptibility genes responsible for SLE. Recently, a gene called IRF5 was found to be associated with SLE. In paper one, we performed a thorough study and confirmed its association to SLE. In addition, we found a few other SNPs in the gene that were associated to the disease. Among them, SNP rs2004640 is very strongly associated and was found to affect the splicing of the gene. Another SNP, rs2280714, correlated with overexpression of the gene, although SNP rs10954213 was much more highly correlated with expression adding to this, in paper two we found a few other SNPs that were associated to SLE and played crucial roles in gene function. An indel in exon 6, though not associated by itself, regulated which isoforms were expressed. Individuals with 2 repeats expressed isoforms V1 and V4, while individuals with 4 repeats expressed isoforms V5 and V6. SNP rs2070197 was also very strongly associated, but did not have a functional role. In paper three, the same polymorphisms were studied in a Mexican population, which showed an even stronger association when compared to a European population. It is known that autoimmune diseases share susceptibility genes, therefore we wanted to see if the IRF5 gene is associated with any other autoimmune diseases. In papers four and five, we tested its association to RA (using three sets of patients and controls from Sweden, Argentina and Spain) and psoriasis (using a set of patients and controls from Sweden). Association was not found in either of the diseases. Therefore, we believe that this association may be SLE-specific.

Previous research has demonstrated the efficacy of a behavioral parent training program for increasing the accuracy of trained skills; however, few studies have examined the extent to which those skills generalize to the natural environment (i.e., the home) and are used with the target individual (i.e., the child). In addition, little is known about the direct effect that caregiver implementation of the skills has on child behavior. A multiple baseline across participants design was used to (a) assess caregiver accuracy with implementation of three parenting skills, and (b) assess subsequent effects of the parenting skills on child behavior. Results demonstrated that three caregiver participants successfully generalized parenting skills taught during behavioral skills training (BST) to naturally occurring routines by recognizing appropriate and inappropriate child behaviors as opportunities to implement the trained skills. In addition, the behavior of each caregiver's child improved following BST, suggesting that the parenting skills were effective in addressing challenging child behavior. All caregivers rated the training and skills to be highly socially valid. Limitations and suggestions for future research are discussed.

När socialtjänsten har beslutat om att ett barn behöver placeras i familjehem måste barnet få åldersadekvat information. Att förmedla information till små barn är en utmaning som ställer krav på samtalsledarens förmåga att kommunicera så att barnet förstår. Syftet med detta examensarbete var att undersöka hur socialsekreterare och familjebehandlare beskriver att de förmedlar beslut om placering i familjehem till barn i förskoleålder. Sju intervjuer med anställda inom socialtjänsten har genomförts. Resultaten har analyserats utifrån salutogen teori med en utvecklingsekologisk referensram. Resultatet visar att informanterna upplever det som hjälpsamt att använda lekmaterial som hjälpmedel för att ge barnet en konkret bild av vad som kommer att hända vid placeringen. Informationen som förmedlas är situationsbunden och individuell. Informanterna belyser även att de anser det som viktigt att vara lyhörd för barnets behov för att kunna välja rätt information att trygga barnet med och på så sätt se till att det blir barnets samtal. I uppsatsens diskussionskapitel behandlas studiens oväntade fynd och förslag på fortsatt forskning. / “The conversation should be child-centred.” A qualitative study of social services informative conversations with children regarding family based foster care placements.   When placed in family based foster care, all children have legal rights to participation and to get age-appropriate information from the social services. Communicating information to young children is a challenge, and the purpose of this study was to examine how social workers and family therapists describe the procedure of informing preschoolers about placement in family based foster care. Seven interviews were conducted with employees in the social services. A salutogenic theory and a frame of reference based on the ecological systems theory of development were used to analyze the results. The results show that employees in the social services described it as helpful to use child-centred methods and to communicate with the children through play to visualise the placement and that the information provided is situational and individual. The informants highlighted the importance of being responsive to the child's needs in the very moment to choose what details to inform about, and that the child has to feel safe and the conversation needs to be child-centred.

At present media often deal with the topic of children growing up in institutions. The society's effort is that children grow up in functional families. Also, based on the UNICEF?s criticism a reform has been created. The Czech Republic has been making an effort for a long time already to decrease the number of children not growing up in natural family environment. A few measures had been proposed and some of them implemented but they have been ineffective in achieving their desired outcomes. The transformation of the alternative upbringing system should be made on a complex basis. However, concerns and disagreements arise over the proposed solution. Advantages and disadvantages are published in various coverages, discussions, as well as in professional literature. The thesis title: The attitude of social and welfare workers towards closing baby and children's homes. The thesis is divided into two parts. The theoretical part deals with the topics of today's family, institutional upbringing, alternative family-based care, and particular steps in the effort to reduce the number of children growing up in institutions. The practical part aims at mapping the attitudes of social workers at baby and children's homes concerning the closing these institutions. A partial objective was to investigate whether the age and practical experience influence the attitudes of social workers of baby and children's homes. Another partial objective was to compare attitudes of social workers of baby and children's homes among different regions of the Czech Republic. I set out two hypotheses. Hypothesis 1: "Social workers have negative attitudes towards closing baby and children's homes." Hypothesis 2: "Social workers' opinions of closing baby and children?s homes do not show any differences among regions of the Czech Republic." Empiric data were collected using a quantitative research, interviewing, and questionnaire technique. The research sample was composed of social workers of selected childcare institutions. The number of questionnaires sent to healthcare institutions (baby homes, baby homes at children's homes, children's homes for 1 - 3 aged and child centres) was 34. Other respondents from children's homes were addressed; in total 148 in the Czech Republic. Thus the research sample was composed of 182 respondents. Every institution was contacted twice as to increase the returnability. The population was represented by the same size as the selected sample, that means it is an exhaustive subpopulation. In total 80 questionnaires returned, i.e. the selected sample returnability (filled questionnaires) reached 44%. Obtained results were statistically processed using scaled classification of data in contexts with obtained nominal, ordinal, and cardinal variables. To analyse categorical data, the chi-square test of independence was used. The hypothesis 1 was statistically confirmed. The hypothesis 2 was not possible to adequately evaluate statistically due to the high number of categories (CR regions) into which the data were divided. Results were placed into nominal statistic tables. The descriptive statistics show that the negative attitudes of social workers prevail. Results of the thesis can be used to analyse opinions of social workers concerning the transformation of the system of care of at risk children. There are many studies relating to the underway transformation of the system of care for at risk children that should be elaborated before the reform is launched. In working out the thesis, I identified many topics that might originate writing further theses. They are e.g. opinions of social workers from the competent authority for social and legal protection of children, attitudes of children in institutional care, creation of an optimal model for at risk children, etc.

La spondyloarthrite (SpA) est un rhumatisme inflammatoire chronique fréquent et invalidant. Plus d’une vingtaine de locus de susceptibilité à la maladie ont été identifiés à ce jour, dont HLA-B27 situé dans le complexe majeur d’histocompatibilité (CMH). L’objectif de ce travail était d’identifier de nouveaux facteurs génétiques de susceptibilité à la SpA grâce à une double approche d’études familiales et de génomique fonctionnelle. Dans la première partie, nous avons génotypé des familles multiplex de SpA. L’analyse de liaison non paramétrique a révélé la présence, en plus du CMH, d’un nouveau locus significativement lié à la SpA en 13q13. L’étude de ce locus nous a permis de restreindre la région d’intérêt à un intervalle de 1,3 Mb, dont le séquençage est en cours. Par ailleurs, l’étude d’association intra-familiale a identifié un SNP intronique de MAPK14 significativement associé à la SpA. Enfin, nous avons montré que l’un des SNPs du gène IL23R connu pour être associé à la spondylarthrite ankylosante était en fait associé à la présence d’une sacro-iliite radiologique dans la SpA. Parallèlement aux études familiales, nous avons comparé le transcriptome de cellules dendritiques de neuf patients atteints de SpA à celui de dix témoins sains. Nous avons ainsi identifié 81 gènes différentiellement exprimés. Nous avons aussi montré que l’expression génique d’ERAP1 (et à un moindre degré son expression protéique et son niveau d’activité enzymatique) étaient sous le contrôle de polymorphismes de ce gène associés à la SpA. / Spondyloarthritis (SpA) is a frequent and disabling chronic rheumatic disease. To date, more than 20 susceptibility loci have been identified, including HLA-B27 in the major histocompatibility complex (MHC). Most of the disease heritability remains to be elucidated. The aim of the study was to identify new genetic factors of susceptibility to SpA using an approach combining genetics and functional genomics. In the first part of this work, we genotyped SpA multiplex families with microarrays of 250,000 SNPs. Non parametric linkage analysis revealed a new locus significantly linked to SpA outside the MHC, in 13q13. Further studies on this locus allowed us to map the disease interval to a 1.3 Mb region, which will be soon sequenced. Moreover, family-based association study identified a significant association between one intronic SNP in MAPK14 and SpA. We also showed that one of the known ankylosing spondylitis-associated SNP in IL23R was indeed associated with sacroiliitis in SpA. We have also compared dendritic cells gene expression between nine SpA patients and ten controls and identified 81 genes differentially expressed. Moreover, we showed that ERAP1 gene expression (and at a less extent protein expression and enzymatic activity) is under the control of several polymorphisms in the gene which has previously been associated with SpA.