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
Nutritional Epidemiology Of Cardiometabolic Risk And Mental Health Disorders From Infancy To Adulthood
Funder
National Health and Medical Research Council
Funding Amount
$443,946.00
Summary
I developed and am leading a program of nutrition research that is making a substantial difference and contribution to the literature that will eventually make a difference to the lives of children and adolescents. The focus of this work will be on the nutritional risk factors for mental health and development of the metabolic syndrome that includes cardiovascular and diabetes risk.
Understanding Ethnic Differences In The Relationships Between Cardiovascular Risk Factors And Cardiovascular Disease In High Risk Populations
Funder
National Health and Medical Research Council
Funding Amount
$151,374.00
Summary
Cardiovascular disease (disease of the heart and blood vessels) is the leading cause of death world-wide. However, the burden of this disease is significantly greater in some populations, including Indigenous Australians and South Asians (Indians, Pakistanis or Bangladeshis). This project therefore aims to improve our understanding of CVD risk in these populations, and to develop better clinical assessment tools that will assist in the early detection and management of CVD in these individuals.
Dietary Patterns, Cognitive Performance And Cardiovascular Risk Factors In Australia, The United States And Luxembourg: An International Comparison And Dietary Intervention Trial
Funder
National Health and Medical Research Council
Funding Amount
$347,227.00
Summary
Ageing and the growing obesity epidemic are two contributing factors to cognitive decline. This research will identify dietary patterns that are associated with better cognitive function using data from individuals in Australia, the United States and Europe, and be used to guide dietary strategies to prevent or slow cognitive decline in at-risk individuals. Delaying or preventing the onset of dementia will save the Australian health care system billions of dollars.
Lifecourse Investigation Of Obesity And Adverse Cardiometabolic Health Outcomes: A Pooled Analysis Of Cohort Studies
Funder
National Health and Medical Research Council
Funding Amount
$393,278.00
Summary
Obesity cost Australia over $58 billion in 2008 alone. We are yet to identify any effective preventive strategies. Limited existing data suggests childhood factors (e.g., obesity) may have a long-term impact on health outcomes. The proposed study will examine the link between childhood factors and cardiovascular disease risk in adulthood in 4 studies that have collected biological and lifestyle factors from childhood to adulthood. This will lead to better understanding of such complex diseases.