Intellectual disability (ID) and autism spectrum disorders (ASDs) can have a devastating impact on an individual’s functioning and quality of life. Insights from pre-clinical models of monogenic forms of ID and ASD are now revealing the biochemical pathways and aberrations in cellular and synaptic functioning involved. One monogenic cause of ID, ASD and epilepsy is SYNGAP1 ID which results from mutations in the SYNGAP1 gene on human chromosome 6. Although a variety of symptoms have been reported, many affected individuals have moderate to severe intellectual impairment and severe seizure phenotypes. Previous pre-clinical studies have mainly focussed on the effects of altered SynGAP expression in mice. This thesis is therefore the first to explore altered SynGAP expression in a rat model. It also adds to the body of research exploring the roles of SynGAP isoforms in glutamatergic synaptic function. The SynGAP_GAP deletion rat was engineered to have a deletion encompassing the enzymatically active GTPase activating protein (GAP) domain of the protein, via which SynGAP regulates multiple biochemical pathways by enhancing the slow intrinsic hydrolysis of GTP by GTP-binding proteins. SyngapGAP/GAP rats appeared small and failed to thrive. As with Syngap-/- mice, this complete loss of WT SynGAP proved lethal, whereas Syngap+/GAP rats appeared to develop normally. The electrophysiological data obtained from this new model reveals a reduction in the frequency of miniature excitatory post-synaptic currents (mEPSCs) in Syngap+/GAP cultured neurons. However the exaggerated hippocampal long-term depression identified in Syngap+/- mice was not seen in the rats. There was also no evidence of differences in intrinsic cell properties, excitatory and inhibitory currents or ratios of AMPAR / GABAAR and AMPAR / NMDAR between WT and heterozygous rats. In addition to the characterisation of the SynGAP_GAP deletion rat, the impact of the previously unstudied Eα1 isoform on forebrain neuronal synaptic function was examined through mEPSC recordings. A trend towards lower mEPSC frequency was found which supports previous research showing that α1 isoforms reduce synaptic strength. This body of work therefore adds to published evidence of isoform specific functions and provides the first evidence of the impact of SynGAP alterations in rats, the results of which show some intriguing differences from previous work in mice.

Title: Sexuality of people with mental disability and autism spectrum disorders in residential facilities in South Bohemia Author: Bc. Veronika Beránková Supervisor: Doc. PhDr. Jan Šiška, Ph.D. ABSTRACT This thesis solves the attitude of the sexuality of people with mental disability and autism spectrum disorders in residential facilities in South Bohemia. We specifically wonder, if there is any work with sexuality and in which way. Chosen research problems were solved during an interview with the employees of the facility whoch provides residential services. Then we did an analysis of the interview by coding and categorization of answers. In the final stage, emerged from the analysis of the interviews main interests of respondents and their attitudes to the sexuality topic. We created a summary which shows how staff work with sexuality of clients with mental disability and autism spectrum disorders and which are their individual attitudes. The benefit of this thesis is effort of explanation our topic to the general public and to the facilities providing residential social services itself. KEYWORDS Mental disability, autism spectrum disorders, sexuality, residential facilities, social services.

The purpose with the present study is to examine house pedagogues’ perceptions of how physical factors in the common areas of group homes affect people with perception disorders. The questions that the study further answers is whether adaptations in the physical environment have been implemented or need to be carried out based on the individual's needs, and whether the persons living in the group home have been involved in the design of the physical environment in the common areas. The people who is living in the group home have disabilities in the autism spectrum and intellectual disability of varying degrees.  In order to answer these questions, I have conducted a survey with complementary interviews. The house pedagogues who participated in the study all work in group homes, which are governed by decisions under LSS, The Act on Support and Services for Disabled People.   I have analyzed the result with the theoretical starting point KASAM, which is based on Antonovsky's concept of context. Antonovsky believes that the existence is comprehensible, manageable and meaningful when internal and external stimuli come in an orderly, structured and cohesive manner.   The result of the study shows that the perceptions of house pedagogues are that difficulties in dealing with different forms of sensory experiences in the common areas of the group homes affect the people who is living there. The result also shows that adjustments have been made and that further adjustments would have to be made within the activities to meet the needs of people for the environment, and that in some of the activities, individuals have had the opportunity to influence the design of the physical environment in there living environment.   This study can contribute to increased knowledge, through house pedagogues’ perceptions, about difficulties within different forms of sensory experiences for people with perception disturbances and in what areas there is a need for adaptation. / Syftet med föreliggande studie är att undersöka verksamhetsnära pedagogers uppfattningar om hur fysiska faktorer i de gemensamma utrymmena på gruppbostäder påverkar personer med perceptionsstörningar. Frågor som studien vidare besvarar är om anpassningar i den fysiska miljön har genomförts eller behöver genomföras utifrån personernas individuella behov, samt om personerna som bor inom verksamheten varit involverade i utformningen av den fysiska miljön i de gemensamma utrymmena. Personerna som bor inom verksamheterna har funktionsnedsättning inom autism och utvecklingsstörning av varierad grad. För att kunna besvara dessa frågor har jag genomfört en enkätstudie med kompletterande intervjuer. Informanterna som deltagit i studien arbetar samtliga som verksamhetsnära pedagoger inom boendeverksamhet som styrs av beslut enligt LSS – Lagen om stöd och service till vissa funktionshindrade. Jag har analyserat resultatet med den teoretiska utgångspunkten KASAM som bygger på Antonovskys begrepp känsla av sammanhang. Antonovsky menar att tillvaron är begriplig, hanterbar och meningsfull när inre och yttre stimuli kommer på ett ordnat, strukturerat och sammanhängande sätt. Resultatet i studien visar att pedagogernas uppfattningar är att svårigheter att hantera olika former av sinnesintryck i de gemensamma utrymmena på gruppbostaden påverkar personerna som bor inom verksamheten. Resultatet visar även att anpassningar har genomförts och att ytterligare anpassningar skulle behöva genomföras inom verksamheterna för att tillgodose personernas behov av tillrättalagd miljö, samt att inom vissa av verksamheterna har personerna haft möjlighet att påverka vid utformningen av den fysiska miljön i de gemensamma utrymmena. Denna studie kan bidra med en ökad kunskap, genom verksamhetsnära pedagogers uppfattningar, om hur svårigheter att hantera sinnesintryck påverkar personer med perceptionsstörningar, samt inom vilka områden det finns behov av att genomföra anpassningar.