"Oma entinen on palannut takaisin elämään" : Kuntoutuksen vaikuttavuus aikuisena kuuroutuneiden henkilöiden elämänhallintaan ja psykososiaaliseen hyvinvointiin

Objective The objective of this study was to learn about the psychosocial well-being and life management of Finnish adults with late deafness or hearing loss and to observe the effectiveness of the rehabilitation courses they participated in. Methods For my study I used indicators which were suitable for the evaluation of life management and psychosocial well-being of late-deafened adults. The first part of the study was conducted during 2009 as a questionnaire on three rehabilitation courses in Kopola, a course center of the Finnish Federation of Hard of Hearing. The follow-up study was done at the third period of the courses during 2009 2010. The questionnaire contained both open and structured questions. The questionnaire consisted of five areas concerning life management and psychosocial well-being: sense of coherence (life management), human relations and social support, mood, self-esteem and satisfaction with life. I also asked the participants to reflect on their experiences of group rehabilitation. Results and conclusions The participants consisted of seven women and three men. They were approximately 63 years old and were all retired. Loss of hearing was described to have affected their social life, free time, and in general made their lives more difficult. From the course the participants hoped to gain new skills such as signed speech and lip-reading, uplift their mood, accept their loss of hearing and experience peer support. After the courses they replied that they had more close relations with whom they also were a little more in contact with. More participants were satisfied with e.g. their ability to take care of themselves, their free time, financial situation, family life, mental resources and physical shape. Majority of the participants showed symptoms of depression when the courses started, but at the end of the courses these signs had moderated or disappeared for most of them. The participants felt that during the rehabilitation they had been heard, respected, accepted and been taken care of. The course provided the possibility for confiding, and the discussions gave the participants support and consolidation. In conclusion, the course affected positively on the acclimatization to the hearing loss and the empowerment of the participants. The results of this study can be utilized in disability services, the development of rehabilitation and in the social- and health services of senior citizens.

Housing the skilled migrants in the Helsinki Metropolitan Area : International attractiveness of housing, neighbourhoods and the city region

The aim of this thesis is to examine the skilled migrants’ satisfaction with the Helsinki Metropolitan Area. The examination is executed on three scales: housing, neighbourhoods and the city region. Specific focus is on the built environment and how it meets the needs of the migrants. The empirical data is formed of 25 semi-structured interviews with skilled migrants and additionally 5 expert interviews. Skilled and educated workforce is an increasingly important resource in the new economy, and cities are competing globally for talented workers. With aging population and a need to develop its innovational structure, the Helsinki Metropolitan Area needs migrant workforce. It has been stated that quality of place is a central factor for skilled migrants when choosing where to settle, and from this perspective their satisfaction with the region is significant. In housing, the skilled migrants found the price-quality ratio and the general sizes of apartments inadequate. The housing market is difficult for the migrants to approach, since they often do not speak Finnish and there are prejudices towards foreigners. The general quality of housing was rated well. On the neighbourhood level, the skilled migrants had settled in residential areas which are also preferred by the Finnish skilled workers. While the migrants showed suburban orientation in their settlement patterns, they were not concentrated in the suburban areas which host large shares of traditional immigrant groups. Migrants were usually satisfied with their neighbourhoods; however, part of the suburban dwellers were unsatisfied with the services and social life in their neighbourhoods. Considering the level of the city region, the most challenging feature for the skilled migrants was the social life. The migrants felt that the social environment is homogeneous and difficult to approach. The physical environment was generally rated well, the most appreciated features being public transportation, human scale of the Metropolitan Helsinki, cleanliness, and the urban nature. Urban culture and services were seen good for the city region’s size, but lacking in international comparison.

Molecular diagnosis of developmental disorders

ABSTRACT Idiopathic developmental disorders (DDs) affect ~1% of the population worldwide. This being a considerable amount, efforts are being made to elucidate the disease mechanisms. One or several genetic factors cause 30-40% of DDs, and only 10% are caused by environmental factors. The remaining 50% of DD patients go undiagnosed, mostly due to a lack of diagnostic techniques. The cause in most undiagnosed cases is though to be a genetic factor or a combination of genetic and environmental factors. Despite the surge of new technologies entering the market, their implementation into diagnostic laboratories is hampered by costs, lack of information about the expected diagnostic yield, and the wide range of selection. This study evaluates new microarray methods in diagnosing idiopathic DDs, providing information about their added diagnostic value. Study I analysed 150 patients by array comparative genomic hybridization (array CGH, 44K and 244K), with a subsequent 18% diagnostic yield. These results are supported by other studies, indicating an enourmous added diagnostic value of array CGH, compared with conventional cytogenetic analysis. Nevertheless, 80% of the patients remained undiagnosed in Study I. In an effort to diagnose more patients, in Study IV the resolution was increased from 8.9 Kb of the 244K CGH array to 0.7 Kb, by using a single-nucleotide polymorphism (SNP) array. However, no additional pathogenic changes were detected in the 35 patients assessed, and thus, for diagnostic purposes, an array platform with ca 9 Kb resolution appears adequate. The recent vast increase in reports of detected aberrations and associated phenotypes has enabled characterization of several new syndromes first based on a common aberration and thereafter by delineation of common clinical characteristics. In Study II, a familial deletion at 9q22.2q22.32 with variable penetrance was described. Despite several reports of aberrations in the adjacent area at 9q associated with Gorlin syndrome, the patients in this family had a unique phenotype and did not present with the syndrome. In Study III, a familial duplication of chromosome 6p22.2 was described. The duplication caused increased expression of an important enzyme of the γ-aminobutyric acid (GABA) degradation pathway, causing oxidative stress of the brain, and thus, very likely, the mild mental retardation of these patients. These two case studies attempted to pinpoint candidate genes and to resolve the pathogenic mechanism causing the clinical characteristics of the patients. Presenting rare genetic and clinical findings to the international science and medical community enables interpretation of similar findings in other patients. The added value of molecular karyotyping in patients with idiopathic DD is evident. As a first line of testing, arrays with a median resolution of at least 9 Kb should be considered and further characterization of detected aberrations undertaken when possible. Diagnostic whole-exome sequencing may be the best option for patients who remain undiagnosed after high-resolution array analysis.