Social Functioning In Early Primary School Following Traumatic Brain Injury Prior To Age Three: The Contribution Of Cognitive, Environmental And Neurological Factors
Funder
National Health and Medical Research Council
Funding Amount
$394,501.00
Summary
Children of preschool age and older demonstrate social problems after a traumatic brain injury (TBI). What effect a TBI has on the social function of young children (before 3 years) is currently unknown but is thought that these children have more problems than older children do. This study will look at how a TBI impacts on the social function of young children and the role of cognition and brain development in social function will also be explored.
The Contribution Of Home Language Exposure To Intergenerational Transmission Of Inequality
Funder
National Health and Medical Research Council
Funding Amount
$1,281,706.00
Summary
The amount of language stimulation from parent to child could be the key driver behind intergenerational inequality. Children learn language through social interaction and this study will significantly enhance our current understanding of exposure to language in the child's home environment. The study will demonstrate how inequalities in the early years have far reaching consequences for later health and development.
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.
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.
Understanding Health Service System Needs For People With Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$1,216,389.00
Summary
The health of people with intellectual disability (ID) is one of the poorest of any group in Australia. People with ID experience higher rates of ill health, poor access to responsive health services and premature death. Our research will develop the first comprehensive profile of health, health service and medicines use and costs for people with ID, and will examine the impact of the National Disability Insurance Scheme (NDIS) on these metrics.
Characterising Quality Of Life And Its Determinants For Children With Intellectual Disability And Their Families
Funder
National Health and Medical Research Council
Funding Amount
$520,874.00
Summary
Approximately 2% of children are born with intellectual disability. They and their families often experience poor health and wellbeing. We will develop a measure of quality of life for affected children and then we will investigate how different factors affect both child and family quality of life. Our new measure will provide capacity to determine what treatments could improve the lives of affected children and their families.
Does Gastrostomy Improve The Lives Of Children With Severe Disability And Their Families?
Funder
National Health and Medical Research Council
Funding Amount
$645,101.00
Summary
Around 750 Australian children are born each year with severe intellectual disability. Problems may include feeding difficulties and frequent hospitalisations. Feeding via a gastrostomy tube into the stomach can be used. We will conduct a data linkage study in NSW and WA, and collect additional data in WA to investigate patterns of gastrostomy use and its safety, effectiveness and costs. Our findings will help the management of poor feeding in intellectual disability.
Do People With Disabilities Access Community-based Palliative Care Services And Does This Service Relieve Hospitals And Emergency Departments: A Study Of The Needs Of People With Intellectual Disability, Multiple Sclerosis And Schizophrenia.
Funder
National Health and Medical Research Council
Funding Amount
$369,208.00
Summary
Very little is know about health service needs and use by people with disabilities at the end of life. The study will help to address this gap. The three groups chosen are adults with an intellectual disability, multiple sclerosis, and/or schizophrenia. The study aims to explore the needs of these people and their carers in their last year of life including the need for palliative care and whether access to palliative care relieves some of the burden on hospital and emergency departments
Does A Health In All Policies Approach Improve Health, Well-being And Equity?
Funder
National Health and Medical Research Council
Funding Amount
$968,325.00
Summary
This project will develop understanding of complex policy initiatives for health & well being which operate across government departments. It will do this through a case study of the SA Government’s Health in All Policies approach which aims to get government departments to develop policies which build a healthier population and reduce health inequities. This research will assess that process, report on what helps and hinders and develop research methods suitable for complex policy evaluation.
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less