ADHD And Comorbidity: Implications For Clinical Practice And Molecular Genetics
Funder
National Health and Medical Research Council
Funding Amount
$284,878.00
Summary
ADHD is emerging as the most common, controversial childhood behavioural problem. Previously we have shown that much of the confusion may lie in the fact that ADHD is inherited as a continuum throughout the entire population, only some people having such a strong genetic potential that they warrant the label ADHD. The threshold to achieve this label is partly a community one, leading to the argument over who should be labelled and treated. This grant goes further in examining the possibility tha ....ADHD is emerging as the most common, controversial childhood behavioural problem. Previously we have shown that much of the confusion may lie in the fact that ADHD is inherited as a continuum throughout the entire population, only some people having such a strong genetic potential that they warrant the label ADHD. The threshold to achieve this label is partly a community one, leading to the argument over who should be labelled and treated. This grant goes further in examining the possibility that there is more than one type of ADHD. Some ADHD children have other behavioural problems such as conduct disorder or learning problems. Some have problems throughout their lives while others grow out of it. In Australia we are unique in having developed the most extensive twin databases world-wide and have already studied aspects of ADHD both in the children and their parents. In this grant we shall explore whether there are distinct genetic types of ADHD, characterised not just by their ADHD symptoms but also by the other behavioural problems they experience and by what happens as they grow-up. Such information is invaluable in developing a treatment program dealing with all aspects of the ADHD and also addresses the question of what will happen as they get older. No other study internationally has such extensive data to address these key questions., vital both to clinicians and families. Given the significant genetic component to ADHD, the next possibility is to find the genes involved in the different types. Knowing what these genes do may help in the development of medications more targeted to specific patterns of problems. Recently genes have been identified which may be involved in specific types of ADHD, as well as genes involved in associated problems such as reading disability and substance abuse. This study offers the potential to clearly identify the role of these genes and so assist in improved diagnosis and treatment interventions.Read moreRead less
Investigating The Role Of The UPF3B Gene And Nonsense Mediated RNA Decay (NMD) Process In Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$572,710.00
Summary
Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes c ....Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes causing various forms of intellectual disability. Surprisingly the number of genes, in which mutations cause various forms of intellectual disability is unexpectedly high. Just on the human X-chromosome we expect in excess of 200 such genes, which is nearly 30% of the gene content of this chromosome. We propose to study a novel gene, UPF3B, we recently identified to be mutated in a form of intellectual disability. The normal function of this gene and its protein is known to a certain extent. The UPF3B protein plays a role of a guardian of other genes in human (and also other species) cells. The role of the UPF3B protein is to prevent erroneous genetic information to be used for the building of proteins with potentially toxic effects to the organism. In our patients this process clearly malfunctions as a consequence of the damaged UPF3B gene. We propose to shed some more light in to the molecular intricacies of this process with the aim to better understand the mechanics of the process. Families, which participate in our studies and have this gene involved will benefit from the availability of direct test. Multiple other families around the world are also likely to benefit, now or in the future.Read moreRead less
Functional Brain Age Measurement In Children And Adolescents
Funder
National Health and Medical Research Council
Funding Amount
$700,433.00
Summary
An important aspect of medicine is measuring the function of the human body. It is often advantageous to convert complex functional measures into simpler, intuitive measures such as 'age'. We can compare functional age to chronological age to diagnose disease. In this project, we will build an estimate of 'brain age' in children and adolescents using recordings of the electrical activity of the brain. We will test this 'brain age' as a diagnostic tool in several neurological disorders.
Novel Mechanism Underlying The Behavioural And Neurocognitive Deficits In Children With Sleep Disorders.
Funder
National Health and Medical Research Council
Funding Amount
$312,296.00
Summary
About one third of Australian children have a sleep disorder. Behavioural or academic problems are common in these children, however the link between sleep and daytime problems is still not clear. New research suggests the pattern of brain activity during deep sleep may provide some answers. This study will explore the link between brain activity during deep sleep and daytime functioning in children with sleep disorders, providing valuable information for treatment.
Novel Therapy For Enhancing Organ Maturation In Pre-term Babies
Funder
National Health and Medical Research Council
Funding Amount
$694,323.00
Summary
This project is developing a factor to enhance organ maturation and repair that may provide a new therapy for premature babies and fetuses with birth defects. This exciting new finding allows for the development of treatments of underdeveloped organs, in particular the lungs of premature and growth restricted babies. We are also trialing this factor in unborn babies with defects to the kidneys and lungs of which there is currently no cure.
Developmental Changes In Cerebral Oxygenation After Term And Preterm Birth
Funder
National Health and Medical Research Council
Funding Amount
$445,306.00
Summary
Approximately 10% of all births are preterm and the numbers of infants surviving are increasing. We have previously found that infants born preterm have lower blood pressure over the first 6 months after term equivalent age than infants born at term. We will use new technology to examine how preterm birth affects brain oxygenation and how this is altered with gestational age, sleep states and sleeping position, to provide insights into their increased risk for SIDS.
Improving Child Health Outcomes In Common, High Burden Conditions.
Funder
National Health and Medical Research Council
Funding Amount
$279,895.00
Summary
As medical advances over the past 50 years have helped to reduce traditional childhood illnesses such as infections, behavioural, developmental and mental health problems have increased. These problems affect at least 1 in 5 Australian children yet the vast majority of problems go undetected and untreated. I propose to develop, trial and disseminate evidence-based approaches to common child health problems including mental health and sleep problems.