Genetic, Family And Social Determinants Of The Burden And Outcome In Rett Syndrome: A Population-based Investigation
Funder
National Health and Medical Research Council
Funding Amount
$332,550.00
Summary
Rett syndrome is a severe disorder of the nervous system mainly affecting females. At birth children with Rett syndrome often seem normal but in their second year lose skills. With time it becomes clear that they are severely intellectually and physically handicapped. In 1999 the link between Rett syndrome and a mutation in the gene, known as MECP2, was found. In Australia since 1993, we have had a register of basic information on all girls and young women diagnosed with Rett syndrome. Over thre ....Rett syndrome is a severe disorder of the nervous system mainly affecting females. At birth children with Rett syndrome often seem normal but in their second year lose skills. With time it becomes clear that they are severely intellectually and physically handicapped. In 1999 the link between Rett syndrome and a mutation in the gene, known as MECP2, was found. In Australia since 1993, we have had a register of basic information on all girls and young women diagnosed with Rett syndrome. Over three quarters of the register s 248 cases have now been genetically tested. In 2000 and again in 2002, extra information on ability to do everyday tasks, behaviour, hand function, medical conditions, and use of health and education services was collected. In 2002 questions on family well being were also included. From 2004 to 2007, further information will be gathered on function, health and well being of the affected child and their family. This will be by telephone interview, questionnaire, video recording, existing medical records, clinical assessments and tests. This will include in 2004 completion of calendars which will provide information needed to estimate health and medical care costs for these children. Similar information by questionnaire and calendar will also be collected from the parents of children with Down syndrome in 2004. The information will be used to compare the social and financial burden of Rett syndrome with Down syndrome, a commoner cause of intellectual disability. The research will also show if it is possible to predict from early genetic test results how severely a child with Rett syndrome will later be affected. It will also determine whether some ways of management improve the long-term outlook for the girl and her family. Finally this study will investigate why some families cope better with this devastating disorder than others. This research is only possible in Australia because of the ongoing register we have set up here.Read moreRead less
3D Printed Food for People with Swallowing Disability. This project aims to identify ways that 3D food printing (additive manufacturing using real food in a device like a ink-jet printer) could be used to improve the visual appeal of puree meals for people with swallowing difficulty, who make up ~8% of the world's population. This study will be the first to include people with swallowing disability (e.g., related to cerebral palsy, stroke, older age) and their supporters in examining the views a ....3D Printed Food for People with Swallowing Disability. This project aims to identify ways that 3D food printing (additive manufacturing using real food in a device like a ink-jet printer) could be used to improve the visual appeal of puree meals for people with swallowing difficulty, who make up ~8% of the world's population. This study will be the first to include people with swallowing disability (e.g., related to cerebral palsy, stroke, older age) and their supporters in examining the views and experiences of stakeholders on the impact of 3D food printing on quality of life, enjoyment, participation, and safety. Outcomes include new knowledge on factors affecting the implementation of 3D food printing in disability and aged care services, to inform policy, practice, and future research.Read moreRead less
NDIS: Rhetoric versus Reality? This project aims to explore the realities of living with intellectual disability in Australia, and the impact of individualised funding arising from the introduction of the NDIS. The study will examine, within this era of disability reform, how people with intellectual disability are having their needs met, and the extent to which they are involved in decision-making about their lives. The study will be conducted over three years using a mixed method design. It wi ....NDIS: Rhetoric versus Reality? This project aims to explore the realities of living with intellectual disability in Australia, and the impact of individualised funding arising from the introduction of the NDIS. The study will examine, within this era of disability reform, how people with intellectual disability are having their needs met, and the extent to which they are involved in decision-making about their lives. The study will be conducted over three years using a mixed method design. It will specifically examine the relationship between self-directed individualised funding and its effect on personal well-being, self-esteem and voice, choice and control. People with intellectual disability will act as co-researchers within the study.Read moreRead less
Normalising Ability Diversity through Career Transitions:Disability at Work. This project aims to investigate how the higher education sector can better support people with disabilities to transition from economic exclusion to work. One in five Australians have a disability and of these 47.3% are not employed. This is a significant issue with regulatory failures and challenges often affecting rights to education and work being exercised on an equal basis. This project seeks to examine internatio ....Normalising Ability Diversity through Career Transitions:Disability at Work. This project aims to investigate how the higher education sector can better support people with disabilities to transition from economic exclusion to work. One in five Australians have a disability and of these 47.3% are not employed. This is a significant issue with regulatory failures and challenges often affecting rights to education and work being exercised on an equal basis. This project seeks to examine international legal norms, theories and strategic and operational practices in the higher education sector. Expected outcomes include advances in scholarship on ableism, informed policy reform, and transferable operational processes for the education and employment sectors, to improve the transition of people with disabilities to work.Read moreRead less
Assessing performance: designing a better performance management framework for disability employment services. The Australian Government is committed to providing the "best possible" service to assist people with disability find employment in the open labour market. This project will develop a performance management framework for disability employment services which includes indicators of service quality as well as employment outcomes.
Quality and outcomes of individual supported living arrangements for adults with intellectual and developmental disabilities. This project identifies service quality aspects contributing to positive outcomes in individual supported living arrangements that enable adults with developmental disabilities to live in their own homes. 150 arrangements will be evaluated across Western Australia, New South Wales and Victoria, providing evidence of service quality in support of people with disability hav ....Quality and outcomes of individual supported living arrangements for adults with intellectual and developmental disabilities. This project identifies service quality aspects contributing to positive outcomes in individual supported living arrangements that enable adults with developmental disabilities to live in their own homes. 150 arrangements will be evaluated across Western Australia, New South Wales and Victoria, providing evidence of service quality in support of people with disability having choice and control in their living arrangements.Read moreRead less
Deafblind communication: Building professional competencies . This project aims to improve the quality of interpreting/support services provided to deafblind Australians by analysing the communication strategies used by deafblind sign language users. Many deafblind people use a modified form of Auslan (Australian Sign Language) to communicate, yet little is known about how interpreters or support workers should adapt their signing when working with deafblind clients to ensure effective communica ....Deafblind communication: Building professional competencies . This project aims to improve the quality of interpreting/support services provided to deafblind Australians by analysing the communication strategies used by deafblind sign language users. Many deafblind people use a modified form of Auslan (Australian Sign Language) to communicate, yet little is known about how interpreters or support workers should adapt their signing when working with deafblind clients to ensure effective communication. This project would develop evidence-based training and resources for these professionals. This should provide significant benefits such as improved communication between deafblind clients and professionals, and enhancing the efficiency and effectiveness of support service provision for deafblind people.Read moreRead less
Direct And Indirect Assessment Of 5 Ability Structures Underlying 7 Categories Of Childhood Psychopathology
Funder
National Health and Medical Research Council
Funding Amount
$263,311.00
Summary
This research has four main aims. First, we aim to obtain detailed knowledge of how normal children develop a range of different abilities, including motor coordination, language skills, the ability to understand other people, self-control, and general cognitive ability. Second, with this knowledge of normal development we will be able to identify cases in which normal development does not occur and to identify the exact ability area(s) in which development is abnormal. Patterns of abnormal deve ....This research has four main aims. First, we aim to obtain detailed knowledge of how normal children develop a range of different abilities, including motor coordination, language skills, the ability to understand other people, self-control, and general cognitive ability. Second, with this knowledge of normal development we will be able to identify cases in which normal development does not occur and to identify the exact ability area(s) in which development is abnormal. Patterns of abnormal development will be studied in children with one of seven disorders, including Autistic Disorder, Intellectual Disability, and Developmental Coordination Disorder. Third, we will assess whether deficits in some ability correspond to impairments in just one basic psychological structure (e.g., language deficits are related to impairment in the ability to recognise sounds) or whether they can be due to impairments in several structures (e.g., the ability to recognise faces or the ability to maintain attention). Finally, we will investigate whether and how impairments in one or more basic psychological structures can result in deficits in one or more of the ability areas that are the basis for the diagnosis of one or more developmental disorders. This research is expected to lead to an enhanced ability to assess the exact nature of any given developmental disorder which, in turn, should enhance clinical care of the child.Read moreRead less
Young People with Disability & Young Carers: Opportunities & Contributions. This project aims to examine opportunities that young people with disability and young carers (aged 12-24) value and access, and contributions they make to families, communities and society. Using novel conceptual framing, qualitative research and large-scale survey data, the project expects to provide new knowledge on how policy can support access to valued opportunities and contributions for young people with disabilit ....Young People with Disability & Young Carers: Opportunities & Contributions. This project aims to examine opportunities that young people with disability and young carers (aged 12-24) value and access, and contributions they make to families, communities and society. Using novel conceptual framing, qualitative research and large-scale survey data, the project expects to provide new knowledge on how policy can support access to valued opportunities and contributions for young people with disability and young carers to support them to reach their full potential. Young people are centrally involved as co-researchers and the project is guided by a Policy Advisory Group. Benefits include evidence for a strengths-based policy approach to disability and care, longer-term economic gains and improved social cohesion.Read moreRead less