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
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
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
LONG TERM FUNCTIONAL ABILITY AND COSTS OF STROKE SUBTYPES.
Funder
National Health and Medical Research Council
Funding Amount
$270,604.00
Summary
Stroke is the third most common cause of death in Australia, and is more common in the older age groups. Because the population most at risk of developing stroke is growing faster than the rest of the population, it is likely that there will be a large increase in the number of strokes occurring in coming years. At 1 year after stroke about one-third of patients have died, a third remain severely disabled and a third recover with minimal disability. In Australia, there is little information on o ....Stroke is the third most common cause of death in Australia, and is more common in the older age groups. Because the population most at risk of developing stroke is growing faster than the rest of the population, it is likely that there will be a large increase in the number of strokes occurring in coming years. At 1 year after stroke about one-third of patients have died, a third remain severely disabled and a third recover with minimal disability. In Australia, there is little information on outcome beyond 1 year. It is thought that at 5 years after stroke about 55% of patients will die, and a further 10% will have another nonfatal stroke. Stroke is estimated to cost the community in excess of $1 billion a year. Little is known about the long-term costs of stroke to survivors and their relatives. These costs are likely to be substantial, and are likely to include costs related to hospitalisations, outpatient visits, general practitioner visits, medications, aids and community services. It is also likely that substantial informal care is provided by relatives and friends (e.g. assistance with shopping and personal care). The aim of this study is to assess the long-term outcome of patients with stroke. These will include measures of survival, stroke recurrence, and ability to perform usual daily activities. In addition, we aim to determine the long-term use of health care and community resources and the costs incurred by patients, their carers, and the community. Information on survival patterns, stroke recurrence and disability will provide information of great value for health service planning. Such information will also be useful to patients, their families, and medical staff who treat these patients. Information on the costs of stroke will provide the only information about the patterns of long-term health care and community resource use among stroke patients in Australia. This information will be useful for health service planning.Read moreRead less
Investigating and promoting resilience in children with intellectual disabilities. Disability is a significant risk factor that threatens health and well-being. For the estimated 4% of 0-14 year old children with diagnosed intellectual disabilities in Australia, early intervention is crucial for promoting resilience and preventing an accumulation of risk. By promoting resilience and thereby reducing the cost of lifelong support, evidence-based interventions produce huge social and economic benef ....Investigating and promoting resilience in children with intellectual disabilities. Disability is a significant risk factor that threatens health and well-being. For the estimated 4% of 0-14 year old children with diagnosed intellectual disabilities in Australia, early intervention is crucial for promoting resilience and preventing an accumulation of risk. By promoting resilience and thereby reducing the cost of lifelong support, evidence-based interventions produce huge social and economic benefits for the nation, as well as for individuals, families and communities.Read moreRead less
New information access technologies for people with intellectual disability. New information access technologies for people with intellectual disability. This project aims to co-design a social, interactive and visual internet search interface for people with intellectual disability. Enabling choice and independence is key to the new National Disability Insurance Scheme, but people with intellectual disability are effectively excluded from much of the Web. This project will investigate ways to a ....New information access technologies for people with intellectual disability. New information access technologies for people with intellectual disability. This project aims to co-design a social, interactive and visual internet search interface for people with intellectual disability. Enabling choice and independence is key to the new National Disability Insurance Scheme, but people with intellectual disability are effectively excluded from much of the Web. This project will investigate ways to access and provide information using technologies such as interactive avatars, virtual worlds and trusted social support. New interfaces will enable people with intellectual disability to inform themselves, make choices and foster their social inclusion. Expected outcomes are new search interface technology, a theoretical framework and new Web accessibility guidelines.Read moreRead less
Young people with cognitive disability: relationships and paid support. This project aims to improve the rights and wellbeing of young people with cognitive disability by exploring their relationship and interaction with paid support workers. The introduction of national individualised funding and support is a watershed in Australian disability policy. Understanding the role that paid support plays in the ongoing identity development of these young people is urgently needed to realise national p ....Young people with cognitive disability: relationships and paid support. This project aims to improve the rights and wellbeing of young people with cognitive disability by exploring their relationship and interaction with paid support workers. The introduction of national individualised funding and support is a watershed in Australian disability policy. Understanding the role that paid support plays in the ongoing identity development of these young people is urgently needed to realise national policy aspirations for people with disability of rights, choice, inclusion and independence. Using social geography and recognition theory, the project expects to deliver new understanding and improved practice around how paid support relationships can foster mutual care, respect and value at a critically important time in young people’s lives.Read moreRead less
Increasing organisational capacity of community residential units to facilitate ageing in place for people with intellectual disability. Unique challenges face the disability, aged care and health sectors because of the increased life expectancy of people with life-long intellectual disability (ID) and the likelihood of their premature ageing. Although this group is recognised by Federal and State governments as requiring specific and special service arrangements, little is known about adapting ....Increasing organisational capacity of community residential units to facilitate ageing in place for people with intellectual disability. Unique challenges face the disability, aged care and health sectors because of the increased life expectancy of people with life-long intellectual disability (ID) and the likelihood of their premature ageing. Although this group is recognised by Federal and State governments as requiring specific and special service arrangements, little is known about adapting disability and aged care services to their needs. This research will inform the development of policy and programs in the disability, aged care, and health sectors. The research aims to improve the capacity of disability group homes to respond to the health and ageing issues of older people with ID,to improve their quality of life.Read moreRead less