The Economic And Social Impacts Of Genetic Sequencing For Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$1,263,576.00
Summary
In this project we will quantify the social and financial costs to families of severe intellectual disability that is genetic in origin. We will assess these impacts in terms of poorer carer health, relationship breakdown, lost income and risk of poverty, as well as increased dependence on government, particularly on welfare payments, and reduced personal income tax paid. We will then determine the extent to which modern clinical genomics can contribute to ameliorating these impacts.
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
Developing A Model Of Preventative Healthcare For People With Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$1,244,756.00
Summary
People with intellectual disability face stark health inequalities, die prematurely from potentially avoidable causes and experience poor access to preventative health care. Access to preventative health care is one of the key pillars of Australia's long-term national health plan. This project will find out why there are gaps in preventative health care for people with intellectual disability, determine how these gaps affect people and develop a new model of health care.
Transforming The Diagnosis And Management Of Severe Neurocognitive Disorders Through Genomics
Funder
National Health and Medical Research Council
Funding Amount
$2,499,330.00
Summary
Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.
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
Improving The Phenotypic Severity Of Intellectual Disability And Seizures Caused By Expanded Polyalanine Tract Mutations In The ARX Homeobox Transcription Factor.
Funder
National Health and Medical Research Council
Funding Amount
$683,622.00
Summary
Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is a gene mutated in X chromosome-linked intellectual disability and seizures. Our study will comprehensively address the basis for improvements to disease outcomes following treatment with steriod horomones in mice modelling these mutations. We will also address the mechanism contributing to disturbed protein function due to these expanded polyalanine tract mutations.
Neourobiology Of Human Epilepsy: Genes, Cellular Mechanisms,network And Whole Brain
Funder
National Health and Medical Research Council
Funding Amount
$17,652,824.00
Summary
The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the genetic causes of epilepsy. They will continue to identify genes underlying epilepsy and study how genetic variations result in development of seizures. Advanced brain imaging will be used to understand the effects of genetic variation on brain structure and function. This study may lead to new diagnostic methods and treatments for epilepsy.
Identification And Characterisation Of Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) And Related Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$376,640.00
Summary
Epilepsy affects approximately 2% of the population at some stage of their lives. We have recently identified two new genes involved in the development of a type of epilepsy known as ADNFLE. We aim to identify further epilepsy genes by sequencing ADNFLE patients who do not yet have identified mutations. We also aim to identify the genes interacting with the genes we have identified, increasing our understanding of the cellular networks involved in the development of epilepsy.