京都大学 / 0048 / 新制・論文博士 / 博士(医学) / 乙第13165号 / 論医博第2152号 / 新制||医||1029(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 篠原 隆司, 教授 宮本 享, 教授 近藤 玄 / 学位規則第4条第2項該当 / Doctor of Medical Science / Kyoto University / DFAM

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Adults with mental retardation (MR) experience a greater number of falls than their non-disabled peers. To date, efforts to understand the causes for these falls have primarily involved qualitative studies that use largely subjective measures to quantify stability. Performing a more objective biomechanical gait analysis may better explain the reasons for these fall accidents and provide repeatable measures that can be used for comparison to determine the effectiveness of interventions intended to reduce slip-related falls. A gait analysis was conducted to quantify normal walking and slip response characteristics for adults with MR as well as a group of non-disabled age- and gender-matched peers. Kinetic and kinematic data were collected and a number of variables relating to gait pattern, slip propensity, and slip severity were calculated to compare the differences between groups. Results showed that adults with MR exhibit slower walking speeds, shorter step lengths, and greater knee flexion at heel contact suggesting that their gait patterns share more similarities with the elderly than with healthy adults of an equivalent age. Unexpectedly, the MR group demonstrated a lower required coefficient of friction (RCOF) and slower heel contact velocity which, alone, would suggest a reduced slip propensity as compared with the healthy group. A greater peak sliding heel velocity and greater slip distance measures, however, indicate greater slip severity for the MR group. The findings of this study suggest that falls in this population may be attributed to delayed response to slip perturbation as measured by slip distances. / Master of Science

This study describes the present medical, dental and nursing services in and used by centres for intellectually and physically impaired children in Cape Town and its environs. The information was gained by means of a structured questionnaire. Thirty three of the 34 centres with a total of 3480 children are included. Twelve are Special Care Centres, 15 Training Centres and 6 are Special Schools. The number of children enrolled ranges from 9 to 400. At the time of the study 9 of the centres were for white children, 17 for coloured children, 5 for black children and 2 were multiracial. Nine of the 11 Special Care Centres were not government supported while only 6 of the other centres were mainly funded from non-government sources. Nurses employed at the centres had worked an average of 8 years at their centres, 23,5% of them having worked with disabled children prior to taking up their present posts. Of the Special Care Centres, only the two residential ones had a nurse on the staff. All the Special Schools had at least one nurse. 57,5% of the centres have a doctor or doctors visiting the centre. Two of the others have regular medical care for the children arranged with local health centres. All the Special Schools are visited while 25% of the Special Care Centres and 33% of the Training Centres receive medical visits. The number of doctors visiting a centre varies from 1 to 7. The doctors come from a variety of services both private and public. Most of the doctors do not receive remuneration for their services. Of the 1 7 centres who have no doctors visiting, the majority depend on parents to take their children to a medical facility if there are problems related to the child's disability. For 7 of them, there is no other option. A similar pattern exists for medical problems unrelated to the child's disability. Six centres make use of medical facilities as a first option in these circumstances. For emergencies only 1 centre can count on a doctor to come to the centre. Ten centres may be able to get a doctor to come. The General Hospitals are the most common facility used in an emergency. Dentists visit 4 of the centres. Twelve of the remaining 29 centres arrange regular dental visits for the children. Eleven of the 13 Special Care Centres do not have regular visits to a dentist arranged. Fifteen centres receive visits from Community Nurses and these are local authority nurses in the main. Their functions are limited in all but one case to contraception, immunisation, Heaf testing or genetic services. There are 10 centres which receive visits from neither doctor, dentist nor nurse (7 Special Care Centres, 3 Training Centres). 32% of the interviewees were satisfied with the services received. The most common improvement sought was to have a doctor visit the centre. Of those with a doctor visiting, 28% wanted the doctors to deal with intercurrent problems as well as the child's disability. The need for paramedical services was also expressed. Further detail is presented and the implications of the findings discussed.

Family life with handicapped child The main objective of this thesis is to cover the day-to-day life with mentally handicapped offspring on the threshold of adulthood from the parent's perspective. The intention is to gain an insight into experiences, emotions, and motives of disabled children's parents, for the purpose of clarifying both positive and negative points of life with the handicapped. The main goal is to focus on the following issues - which impact has this life on the parents, how their everyday life is changed, and how their attitudes and perception of themselves has been changed. Another point is to ascertain how different opinions of mothers and fathers are. The thesis consists of two main parts. In the first one, the topic is anchored in the theoretical background. This theoretical part is based on the relevant topics published in specialized reference books. In the second one, it is followed by the analysis and interpretation of two consecutive interviews with the parents. This empirical part is processed by the methods of oral history. It also contains the references to the findings published in bibliography. The conclusion contains methodology analysis and summary of key points describing the life with handicapped child. The life is considered to be psychologically, financially, and time...

Reduced activity of Fragile X mental retardation protein (FMRP) in brain neurons results in the most common form of heritable mental retardation in humans, Fragile X Syndrome (FXS). FMRP is a selective RNA-binding protein that is implicated in the translational regulation of specific mRNAs in neurons. Although very few direct targets of FMRP have been identified and verified in vivo, FXS is thought to result from the aberrant regulation of potentially hundreds of mRNAs causing defects in neuron morphology and synapse function. Identifying additional targets will be important for elucidating the mechanism of FMRP regulation as well as the etiology of FXS. Drosophila melanogaster offers a unique and powerful system for studying the function of FMRP. Flies with loss of FMRP activity have neuronal and behavioral defects similar to those observed in humans with FXS. Importantly, FMRP regulates common target mRNAs in neurons in both mice and flies. Here, I will describe our discovery of a previously unknown requirement for Drosophila FMRP (dFMRP) during the cleavage stage of early embryonic development. First, we identified a requirement for dFMRP for proper cleavage furrow formation and found that dFMRP functions to regulate the expression of specific target mRNAs during the cleavage stage. Among these is trailer hitch (tral) mRNA, which encodes a translational regulator as well, and represents a new in vivo target of dFMRP translational regulation. In addition, I have identified twenty-eight proteins that change in expression in the absence of dFMRP using a comparative proteomics based screen for dFMRP targets. One of these is the Chaperonin containing tcp-1 complex (CCT), a previously unidentified target, which I found is itself also required for cleavage furrow formation. Finally, we have identified a new dFMRP protein-binding partner, Caprin, and found that together dFMRP and Caprin are required for the proper timing of the MBT. This set of work has led to a better understanding of the mechanism of dFMRP-dependent regulation of cellular morphogenesis in early embryos and has the potential to lead to a better understanding of the etiology of FXS. / text

The purpose of this study is to investigate some teachers in special school´s perceptions of the meeting of compulsory school and special school. In this study, ethnocentrism is used as a theoretical framework, the theory which is built on the meeting between groups and how they interact. The study has a phenomenographic onset, which is a qualitative method. The gathering of data was made through interviews, one to one. Five interviews were made and analyzed by the use of phenomenographic analysis. Five categories were identified: Inclusion, commitment and interest, knowledge about special school, to be forgotten, and differences in cognitive approach. In the sample space the underlying structures was discussed by ethnocentrism, as well as previous literature and research. Some common points of contact between ethnocentrism and previous research on the meeting could be found. What the study also found was that four out of five respondents felt a sense of belonging in school, while one felt that the Special school was excluded from the regular school. The respondents could all agree on the fact that several factors affected the meeting. These five categories could be seen as areas of improvement in schools that want to work in an inclusive manner. These factors were also lifted in previous research on special school and inclusion.