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This thesis examines the experience of disability income insurance in Australia from 1980 to 2001. The data underlying the work was generously provided by the Institute of Actuaries of Australia which has collected data from the major companies which have written this business since 1976. The focus in this work is on the claims behaviour of those who have been insured and the implications to be drawn from the observations about that behaviour. This information is intended to be valuable to individual companies as they seek to make decisions about their pricing, underwriting and claims management so as to ensure adequate profitability of this line of business. The work demonstrates the following key conclusions. There have been very radical changes in the characteristics of the business over the period and in the resulting experience. In particular, the claim termination experience has deteriorated dramatically with average claim durations now around twice that at the start of the period, The structure of IAD8993 is no longer representative of the aggregate industry experience. This is particularly so in respect to incidence, where only one of the six characteristics included has its �shape� confirmed by the experience. The other five have statistically significant evidence that their �shape� is not consistent with the experience. For terminations three of the six are confirmed. Many of the additional characteristics examined demonstrate that they are significant predictors of experience. In respect to incidence six of the eight examined were significant. In respect to terminations only two of the eight were significant. There is a material element of seasonality in respect to both incidence and terminations. While the Australian experience is materially better than the corresponding USA experience the worsening experience for medical occupations in the USA should be taken as a warning to Australia of the potential which exists in this occupation subclass. There is a serious body of circumstantial evidence supporting the hypothesis that the experience of disability income insurance is significantly influenced by �state of mind� rather than �state of body�.

The association of constitutional chromosome imbalance in patients with intellectual disability with or without related dysmorphism and malformations is well established. The resolution of conventional cytogenetic examination is limited to imbalances of 5-10Mb. Patients with characteristic phenotypes which allude to a specific microdeletion or duplication syndrome may be investigated using locus specific fluorescent in situ hybridisation (FISH). Subtelomere FISH, a recently new improvement for cytogenetics screening, detects subtelomeric rearrangements in around 6% of patients with idiopathic disability. However it is evident that for these patients, most do not have a recurrent pattern of dysmorphism or malformations suggesting imbalance in a particular chromosome region. Array CGH has the potential to detect chromosome imbalances beyond that of current technology allowing the whole genome can be screened in a single hybridisation at a resolution limited only by the genomic distance between the arrayed target clones. The aim of this study was to develop a custom whole genome array and utilize this array to screen a number of diverse patient groups. Rather than immediately begin with the development of a whole genome array a smaller pilot study was initiated, in so enabling the efficacy of the methodology to be tested. A small clinical/ subtelomere array was designed and constructed to screen for cytogenetic imbalances within the first 5Mb of each chromosome end (excluding acrocentric chromosomes) together with the number of known clinically significant regions. This clinical/subtelomere array (chapter 3), was ulilised to map the extent of deletion and/or duplication in patients with previously determined subtelomere abnormalities. This was followed with the screening of a small group of patients with idiopathic intellectual disability (chapter 4). Novel Copy number changes were identified together with a number of changes determined to be non-pathogenic variants. The methodology used in the utilization of this array could determine copy changes in patients, however it became clearly evident that the effective resolution was compromised when a number of clones were shown to map to other sites of the genome or cross hybridise to multiple sites. With this knowledge the next stage of the project, a whole genome array, primarily constructed from a FISH validated clone set, reduced the possibility of mapping discrepancies. These FISH mapped clones did not give a even genomic coverage. All clones from this set were mapped using Ensembl resources. Any identified gaps (greater than 1Mb) were covered using clones from a second clone set (32K), giving a resolution of ~0.2-1Mb. Three diverse groups of patients were screened using the whole genome array. Using a novel scoring system which evaluated degree of intellectual disability/developmental delay, dysmorphism, presence of malformations and the presence of an apparently balanced cytogenetic rearrangement, twenty five patients with idiopathic disability were assessed. Four novel copy number changes were determined of which three were determined likely to contribute to the phenotype of the patient. The fourth patient is under investigation. Chapter 6 saw the application of the whole genome array to a second patient group; medically terminated pregnancies, in utero fetal deaths or newborn infants with one or more facial dysmorphism or fetal malformation. One potentially pathogenic copy number change was ascertained from this study. The third patient group, those with retractable epilepsy (chapter 7) showed two copy number changes both of which will require further follow up and investigation, including screening with a higher density array platform. The screening of more than seventy varied patients has shown the efficacy of these two custom platforms, to detect previously undetermined copy number changes. / Thesis (Ph.D.) -- University of Adelaide, School of Paediatrics and Reproductive Health, 2010

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This qualitative study explored the experiences of people categorised as legally blind. Adopting a phenomenological approach, the study gathered four life stories of three recruited participants and my own story as a legally blind person. These case studies revealed that people who are legally blind traverse a borderland between sighted and blind worlds, a position which carries with it experiences that are vastly different than both totally blind and sighted people. Located in disability studies, the thesis examined the experience of legal blindness in a unique way, cross-fertilising the best elements of an American cultural studies approach with a British social model of disability. The British social model, rooted in sociological materialist analysis, is often positioned by its proponents as at odds with the United States humanities-based cultural or minority model of disability. This thesis sought to discover if a bridge could be built between the two models to allow for several theoretical analyses with the higher goal of understanding both phenomenological and social aspects of borderland blindness. Another original aspect of this study is the use of the postmodern metaphor “borderland” to carve out a geographical space unique to legal blindness -- a territory between sightedness and blindness where residents are pressed to migrate back and forth across its borders from situation to situation. The research developed a combination of social constructionism, materialism, postmodernism, and existential phenomenology, while aiming to meet the goals of emancipatory disability research. Participants told their stories in their own words, they chose what was important for us to know about them, and they maintained control over their stories throughout the research and write-up processes. The study was interested in how society treats blind people, and was also keen to know what meaning blind people made of such treatment. Its design strayed from orthodox disability studies research in that it wanted to learn and record the embodied experience of legal blindness as well as blindness identity formation. However, to examine physical aspects of blindness did not imply approval of ocularcentric medical model practices; both the American and British social models have at their foundations critical analyses of medicine’s control over the lives of disabled people. While this study utilised social constructionism as a primary method of analysis, it simultaneously challenged the binary of essentialism/social constructionism because impairment, disablement, and disability are complex and do not all fit into either stance. The experience of impairment is integral to understanding the lived experience of blindness. Further, the study rejected the blindness/sightedness binary which positions blindness as ‘lack’ (Michalko, 1999), and instead, examined borderland blindness as a medically and legally constructed social category that is neither better nor worse than ‘normal’ sight and vision, but is merely neutral difference. The research was conducted from an ‘insider’ position because I wanted to learn how other legally blind people experience life in the borderland; and, in the tradition of disability studies and disability activism, I consider this work a political act -- “a commitment to openly partisan inquiry” (Barnes and Mercer, 2004). I was curious to explore the strengths, weaknesses, and complexities of conducting research as an “insider” – as a member of the population of research interest. Another feature of this study was the application of Rogerian techniques of establishing an environment in which genuineness, trust, and unconditional positive regard would flourish; this model provided a natural marriage to emancipatory life story and insider research. The research findings conclude that there is no conflict between British and American social models of disability; and further argue that the two models enhance each other in that together they provide a more holistic examination of the everyday lived experience of disabled people. Use of both models strengthened inherent weaknesses that arise when each model stands alone. Furthermore, the findings suggest that more studies about blindness concentrate on “legal” or borderland blindness because this population has experiences that are vastly different from both totally blind and sighted people. These differences have significant ramifications for education, rehabilitation and other human service policy and provision.

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