Hospital Admission, Cerebral Palsy, Intellectual Disability And Birth Defects In Assisted Conception Infants.
Funder
National Health and Medical Research Council
Funding Amount
$115,110.00
Summary
We have recently completed a study examining the prevalence of birth defects in assisted conception infants born in Western Australia from 1993-1997. Contrary to reassuring claims by other researchers in this area, we found that assisted conception infants have a two-fold increased risk of being diagnosed with a major birth defect by one year of age. We now propose to examine other long-term health outcomes in these children. This study involves record linkage between the WA Reproductive Technol ....We have recently completed a study examining the prevalence of birth defects in assisted conception infants born in Western Australia from 1993-1997. Contrary to reassuring claims by other researchers in this area, we found that assisted conception infants have a two-fold increased risk of being diagnosed with a major birth defect by one year of age. We now propose to examine other long-term health outcomes in these children. This study involves record linkage between the WA Reproductive Technology Register and four other population-based databases. The prevalence of cerebral palsy, intellectual disability, hospital admission and birth defects in assisted conception children born in WA between 1993 and 2001 will be compared to that seen in all other Western Australian children born over the same time period. The collection of information on risks associated with assisted conception treatment is vital to allow adequate counselling of couples considering fertility treatment. Cerebral palsy, intellectual disability, birth defects and hospital admission are all serious adverse health outcomes and, despite the introduction of IVF to most Western countries twenty years ago, there are limited data in the literature concerning the occurrence of these conditions in assisted conception infants. Quantifying the contribution of assisted conception treatment to neonatal, infant and childhood morbidity and mortality is also important for the planning of health service provision. Although assisted conception births represent only a small proportion of total births in Australia, these infants may require a disproportionate level of health care services, such as neonatal intensive care treatment due to complications associated with preterm or multiple birth. The wide application of assisted conception treatment in Australia and the increased number of pregnancies achieved by these means reinforce the urgent need for valid data on the health of children born after these procedures.Read moreRead less
RCT Of An Intervention To Improve The Health Of Adolescents With Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$803,146.00
Summary
A high number of people with intellectual disability die at a younger age than the general population - 5 to 20 years younger. The standard of their health is low compared with others. They experience high levels of unrecognised disease and do not receive health promotion or health screening. As they comprise 2.7% of our population (502,000 Australians) - this situation is unjust and should be rectified. The barriers to good health for them include communication difficulties, impaired recall of ....A high number of people with intellectual disability die at a younger age than the general population - 5 to 20 years younger. The standard of their health is low compared with others. They experience high levels of unrecognised disease and do not receive health promotion or health screening. As they comprise 2.7% of our population (502,000 Australians) - this situation is unjust and should be rectified. The barriers to good health for them include communication difficulties, impaired recall of significant health information, negative social attitudes and inadequate training about disability for health service providers. This project is an attempt to minimise some of these barriers by examining the use of a Health Intervention Package. We want to give young people with intellectual disabilty the chance of similar health standards to the rest of the population. This package includes a comprehensive health review, a diary for collecting and storing health information, and advocacy training. We specifically want to examine if adolescents with intellectual disabilty using this package will receive better healthcare and improved health outcomes. We envisage that if successful, the intervention will establish good health practices for the rest of the young person's life. This group of young people is particularly at risk as they move from care provided by specialist paediatricians to accessing General Practitioners' services. To achieve this, the study will seek to recruit 1000 young people (and their parents and teachers) in Special Schools in Queensland. We have already shown that the comprehensive health review does improve health outcomes adults with intellectual disabilty, and the health information and advocacy training has received very positive evaluation. We now need to investigate the effect of both these processes in adolscence and establish if evidence exists to support wider implementation throughout the sector.Read moreRead less
Motor Functioning In Autism And Asperger's Disorder: Furthering Current Neurobehavioural And Clinical Definitions
Funder
National Health and Medical Research Council
Funding Amount
$354,932.00
Summary
While it is well known that autism and Asperger's disorder are associated with social, communicative, and behavioural symptoms, it is less well known that affected individuals also have considerable movement and coordination difficulties. For example, these children often have problems with hand writing, walking, hopping, skipping, catching, and running. These skills are very important for success at school; for example, if children are unable to participate in school sports they often feel isol ....While it is well known that autism and Asperger's disorder are associated with social, communicative, and behavioural symptoms, it is less well known that affected individuals also have considerable movement and coordination difficulties. For example, these children often have problems with hand writing, walking, hopping, skipping, catching, and running. These skills are very important for success at school; for example, if children are unable to participate in school sports they often feel isolated and rejected from the peer group. Also, hand writing problems have a significant impact on children's academic performance. Our previous research has suggested that there may be particular patterns of motor problems that characterise individuals with autism and Asperger's disorder. Our proposed research aims to use the kinds of 3D motion analysis technology used in the movie industry to capture exactly how people affected by these conditions move and respond to the environment. This study will enable us to highlight particular parts of the brain-motor circuitry that are affected by these disorders and will also enable us to more clearly distinguish how autism is different from Asperger's disorder. Ultimately, it is hoped that our motor investigations will lead to improved assessment and interventions for these disorders.Read moreRead less
LONGITUDINAL STUDY OF BEHAVIOUR AND EMOTIONAL PROBLEMS IN YOUNG PEOPLE WITH INTELLECTUAL DISABILITIES
Funder
National Health and Medical Research Council
Funding Amount
$761,790.00
Summary
Families caring for young people with intellectual disabilities face major burdens of care if the young person also has serious behaviour problems. These behaviour problems are also costly for our community. This project is intended to assist young people and their carers by providing new information about the factors contributing to these behaviour problems and how they develop over time. The project makes use of an internationally unique follow up study which has followed a group of young peop ....Families caring for young people with intellectual disabilities face major burdens of care if the young person also has serious behaviour problems. These behaviour problems are also costly for our community. This project is intended to assist young people and their carers by providing new information about the factors contributing to these behaviour problems and how they develop over time. The project makes use of an internationally unique follow up study which has followed a group of young people aged 4-18 for the last eight years. The young people are now entering a critical age band facing many changes in their lives such as the possibility of independent living, work challenges, as well as a search for new social relationships and day activities in the post-school period. Also they face increased risk for mental health problems which most commonly emerge in this age group, particularly psychosis and depression. This project promises to determine how the young people cope with these challenges and what steps our community needs to make to assist them and their families to reach an optimal adjustment.Read moreRead less
Service Pathways For Ageing Caregivers Of Adults With Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$143,613.00
Summary
Caregiving is demanding, but for most it is but a phase of life. This is not so for the 90,000 Australian parents caring for a lifetime for their adult son or daughter with intellectual disability. They are at significant risk from the physical and emotional consequences of long-term caring and the compounding effects of their own - and their son or daughter's - ageing. Despite this, these ageing parent caregivers typically do not use health and community services until a crisis occurs. Our goal ....Caregiving is demanding, but for most it is but a phase of life. This is not so for the 90,000 Australian parents caring for a lifetime for their adult son or daughter with intellectual disability. They are at significant risk from the physical and emotional consequences of long-term caring and the compounding effects of their own - and their son or daughter's - ageing. Despite this, these ageing parent caregivers typically do not use health and community services until a crisis occurs. Our goal is to ensure that ageing parent caregivers use health and community services appropriately and for these services to be appropriate to their needs. The proposed project therefore aims to identify the pathways that lead to or prevent ageing parent caregivers accessing services and to construct a model for ageing parent caregivers' involvement with services that could be tested with a randomised clinical trial. Narrative life history method will be used to determine how ageing parent caregivers arrived in their present circumstances and factors which influence the caring relationship, its stresses and rewards, and their experiences and views concerning services. Service providers will participate in focus groups to examine their perceptions and expectations of services for ageing parent caregivers. Characteristics of the study sample will be compared with state and national population benchmarks. The findings will inform our planned development of a multi-dimensional strategy to provide cost effective preventive health and community services for this largely neglected subgroup within the population of caregivers in Australia.Read moreRead less
A Longitudinal Study Of Psychopathology In People With Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$999,803.00
Summary
This project will further develop the research opportunities of an internationally unique 15 year follow up study of the mental health of young Australians with ID. We have shown that this group has 2-3 times the risk of suffering serious emotional and behavioural problems that are an added heavy burden on the individual, their family and carers and the community. These problems often are not recognised but are as common as schizophrenia in the community. The study will continue to use a combina ....This project will further develop the research opportunities of an internationally unique 15 year follow up study of the mental health of young Australians with ID. We have shown that this group has 2-3 times the risk of suffering serious emotional and behavioural problems that are an added heavy burden on the individual, their family and carers and the community. These problems often are not recognised but are as common as schizophrenia in the community. The study will continue to use a combination of questionnaire survey and in depth interviews of the young adults and their families or carers to track the course of their mental health. The study commenced in 1990 with nearly 1000 young people with ID aged 4-18 years and their progress has been reviewed every 2-3 years in over 75% of the original group. During the next 5 years we plan to follow their mental health during the critical stage of young adult life. During this time there is the greatest risk of mental illnesses such as depression and schizophrenia and the stresses of adjusting to new daily occupations, independent living or residential care and social contact away from the family. We will be able to study the specific emotional and behavioural problems faced by young adults with the main known causes of ID such as Down, Fragile X, Prader Willi and William Syndromes, as well as those who have autism. The great benefit of a long term follow up study is that it allows us to study the links between earlier family environmental, psychological and biological factors and subsequent mental health problems. We can also demonstrate the impact that mental illness in a young person with ID has on the family and parental mental health. The findings have implications for better diagnosis, improved care and management, early intervention and prevention of these common severe and under recognized mental health problems in this disadvantaged group of young Australians and their families and carers.Read moreRead less
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
Cholinergic Abnormalities In Alzheimer's Disease: Identification Of Novel Therapeutic Targets
Funder
National Health and Medical Research Council
Funding Amount
$478,500.00
Summary
The aim of this project is to develop new drugs for the treatment of Alzheimer's disease. Alzheimer's disease is a disease of ageing commonly associated with memory loss. The disease is caused by the build up of amyloid protein in the brain. However, it is not known how amyloid protein causes degeneration of normal brain function. Our previous studies have shown that amyloid protein targets two components which are important for normal brain function. These components are 1) acetylcholinesterase ....The aim of this project is to develop new drugs for the treatment of Alzheimer's disease. Alzheimer's disease is a disease of ageing commonly associated with memory loss. The disease is caused by the build up of amyloid protein in the brain. However, it is not known how amyloid protein causes degeneration of normal brain function. Our previous studies have shown that amyloid protein targets two components which are important for normal brain function. These components are 1) acetylcholinesterase and 2) nicotinic receptors, which are known to be important for memory. The aim of this application is to identify the mechanisms by which amyloid protein targets acetylcholinesterase and nicotinic receptors and to design inhibitors of this interaction which may ultimately provide a platform for future drug development.Read moreRead less
Investigating The Pathogenic Role Of Polyalanine Tract Expansion Mutations In The ARX Homeobox Transcription Factor.
Funder
National Health and Medical Research Council
Funding Amount
$545,619.00
Summary
Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is one of the most frequent genes mutated in X chromosome-linked intellectual disability. Our study will specifically address the functional impact of these mutations in ARX using cell models relevant to the brain. We will also examine the contribution of other genetic changes to explain the very different symptoms seen in patients with the same gene mutation.
Prader-Willi Syndrome (PWS) is characterised by symptoms such as obsessions, overeating, rage attacks, skin picking, irregular sleep breathing and temperature control, and impairments in learning and understanding social cues. Evidence from brain studies suggest that such symptoms maybe related to a deficiency of oxytocin, a natural occurring hormone derived in the hypothalamus. This study aims to investigate the efficacy of oxytocin nasal spray on improving behaviour and physical health in PWS.