DEAF1 is a transcription factor linked to suicide and depression and is recurrently mutated in non-syndromic intellectual disorder (ID). In humans with major depressive disorder (MDD), DEAF1 is reported to have altered expression in the prefrontal cortex and the dorsal raphe nucleus of females but not males, and therefore may function in sex-specific depression. Standard (whole body) knockout of Deaf1 has been reported to alter 5-hydroxytryptamine (serotonin) receptor 1A (Htr1a) levels in the frontal cortex and dorsal raphe nucleus. We hypothesized that mice with targeted deletion of Deaf1 in brain would produce behavior phenotypes analogous to human MDD and ID, and that changes in Deaf1-target gene expression would be associated with behavior changes. To test this hypothesis, we produced a mouse line to allow conditional gene targeting of exons 2-5 (Deaf1-flox). Deaf1-flox mice were bred to congenic status onto a C57BL/6 background, and were then bred to mice transgenic for the Nestin-Cre gene to produce embryonic knockout of Deaf1 in neuronal precursor cells. Adult mice were tested for anxiety behavior using the Elevated Plus Maze and Open Field Exploration tests, and were tested for depression-like behavior using the Porsolt forced swim and sucrose preference tests. Relative to control mice, both male and female mice with homozygous deletion of Deaf1 in brain displayed increased anxiety measured by the anxiety tests, and no differences were measured in tests for depression-like behavior. Rotarod testing showed no deficits in motor skills of male mice. Learning and memory in mice were tested using Morris Water Maze (MWM) and fear conditioning. No change in long-term memory in male mice was observed in MWM, but both male and female mice lacking Deaf1 displayed severe deficits in fear conditioning tests. Eif4g3 and Tmem80 are target genes of Deaf1 and decreased mRNA levels were observed for Eif4g3 and Tmem80 throughout the brain of Deaf1 knockout mice, with no change in Htr1a mRNA levels. Our results demonstrate that conditional knockout of Deaf1 in neuronal precursors produces anxiety behavior and deficits in learning and memory in adult mice, potentially without changes in Htr1a mRNA levels, and that this mouse model may be useful in understanding the molecular mechanisms underlying MDD and ID in humans.

We do not find much information in Czech literature about the influence of social media on a person with a intellectual disability. At the same time, the media can greatly influence the integration of people with disabilities, especially in countries where they have been excluded from public life for long time. This diploma thesis focuses on people with mental disabilities, who live in social care facilities. So my main goal is to describe the aims and motivations which lead them to social media. Research of the diploma thesis aims to clarify several questions about the extent and manner of social media use by people with intellectual disabilities. It could be assumed that the environment will greatly influence habits related to the consumption of social media, therefor is research focused exclusively only on those, whose home is a social care institution or sheltered housing. Introduction of this work is devoted to literature's research on a related topic. The main tasks of this diploma thesis are: typology of motivations that bring people with mental disabilities to social media, to describe how they think about this motivation and finally to describe their habits and experiences associated with the use of social media. Final result of these points is a typology of the purposes for which they use...

We do not find much information in Czech literature about the influence of social media on a person with a intellectual disability. At the same time, the media can greatly influence the integration of people with disabilities, especially in countries where they have been excluded from public life for long time. This diploma thesis focuses on people with mental disabilities, who live in social care facilities. So my main goal is to describe the aims and motivations which lead them to social media. Research of the diploma thesis aims to clarify several questions about the extent and manner of social media use by people with intellectual disabilities. It could be assumed that the environment will greatly influence habits related to the consumption of social media, therefor is research focused exclusively only on those, whose home is a social care institution or sheltered housing. Introduction of this work is devoted to literature's research on a related topic. The main tasks of this diploma thesis are: typology of motivations that bring people with mental disabilities to social media, to describe how they think about this motivation and finally to describe their habits and experiences associated with the use of social media. Final result of these points is a typology of the purposes for which they use...

Syftet är att undersöka konsekvenser för barn, unga och unga vuxna i åldern 0-25 år som växer upp tillsammans med syskon som har funktionsnedsättning. Dessutom är syftet att identifiera betydande faktorer för att uppnå ökad kunskap om hur professionella inom hälsooch sjukvård kan utveckla arbetet och bemötandet till barnen och deras familjer. Studiens teoretiska ramverk är Eriksons åtta utvecklingsfaser och Marcias identitetsstatusmodell som berör människors identitetsutveckling ur ett psykosocialt perspektiv samt copingstrategier för att hantera sin situation. Studien är utformad som en integrativ litteraturstudie, vilket innebär att vetenskapligt material med både kvalitativ och kvantitativ metod samlas in. Samtliga artiklar bearbetas och sammanställs genom tematisk analysmetod. Resultatet visar att målgruppen löper ökad risk för sociala konsekvenser, emotionell överbelastning och psykisk ohälsa. Resultatet tyder på att syskon med funktionsnedsättningen i sig inte bidrar till ökad psykisk ohälsa hos barnet, däremot eventuella konsekvenser av funktionsnedsättningen. Det framträder även positiva konsekvenser som utvecklad stresshantering, ökat tålamod samt värderingar om respekt för andra trots olikheter. Framträdande risk- och skyddsfaktorer är tillgång till socialt stöd, föräldrar, diagnosens karaktär och ålder. Utöver konsekvenser som mätbar hälsa framkommer även att identitetsutvecklingen kan påverkas och således även copingstrategiernas betydelse för att hantera situationen på ett framgångsrikt sätt. / The following study aims to investigate the consequences for children aged 0-25 growing up with a sibling with a developmental disorder. In addition, the study intends to identify significant factors to achieve knowledge on how professionals in healthcare can develop the work and treatment with the children and their families. The study's theoretical framework is a psychosocial perspective on identity development and coping strategies. The study is designed as an integrative review in which both qualitative and quantitative data have been included. The data is processed and compiled through thematic analysis. The results show that growing up with a sibling with a developmental disorder can be related to higher risk of social consequences, emotional overload and mental illness. The results indicate that it’s the potential consequences of the disorder that is the main reason for the higher risk of mental illness. There are also positive consequences such as developed stress management, increased patience and values about respect for others despite differences. Identified prominent factors are social support, parents, the diagnosis and age. Identity development can be affected and thus also the importance of coping strategies for managing the situation in a successful way.