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
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.
A significant proportion of mothers give birth assisted by forceps or vacuum extraction (Ventouse) when problems occur during labour. A number of problems such as incontinence, haemorrhoids, persistent perineal pain, incontinence and sexual problems seem to be commoner after birth in mothers who have had an operative vaginal birth. It has been suggested that to avoid these problems more women should have an elective caesarean without going through labour at all. Although caesarean births would p ....A significant proportion of mothers give birth assisted by forceps or vacuum extraction (Ventouse) when problems occur during labour. A number of problems such as incontinence, haemorrhoids, persistent perineal pain, incontinence and sexual problems seem to be commoner after birth in mothers who have had an operative vaginal birth. It has been suggested that to avoid these problems more women should have an elective caesarean without going through labour at all. Although caesarean births would probably avoid the problems listed above caesarean births are not necessarily better for women's health in all ways - and they are much more costly. This study will follow-up 990 women who had an operative birth (vaginal or caesarean) in 1996-8, 'debriefing' after birth and assessment of health status and health problems 6 months after birth. It will assess their subsequent recovery and fertility, review the events of pregnancy, labour and birth in their medical records to identify factors associated with incontinence, perineal pain, haemorrhoids and sexual problems, and review the outcome of any pregnancies since the original study. The study will provide: * better long term information about health problems, recovery, and fertility after caesarean birth and after operative vaginal birth; * stronger evidence on factors during labour associated with incontinence and related problems; * documentation of the reasons why women with incontinence and related problems rarely seek help or treatment from GPs or specialists; * evidence of any long-term effects of 'debriefing' after birth.Read moreRead less
After Hours Medical Care And Personal Safety Needs Of Urban General Practitioners
Funder
National Health and Medical Research Council
Funding Amount
$73,250.00
Summary
Experiences of violence and aggression are widespread within the health care field. Episodes of violence and aggression against general practitioners (GPs) in their working environment are not uncommon. These incidents frequently go unreported and the toll they take on GPs, on a personal as well as a professional level, is unknown. The frequency and severity of violence experienced by some health professionals is extreme. Such experiences may undermine the confidence and commitment of GPs and ma ....Experiences of violence and aggression are widespread within the health care field. Episodes of violence and aggression against general practitioners (GPs) in their working environment are not uncommon. These incidents frequently go unreported and the toll they take on GPs, on a personal as well as a professional level, is unknown. The frequency and severity of violence experienced by some health professionals is extreme. Such experiences may undermine the confidence and commitment of GPs and may inevitably have detrimental effects on health care services. Studies in the UK indicate that violence against general practitioners is increasing, violence against GPs in rural areas of Australia is also increasing but there have been no comparable studies carried out in our major cities. This research aims to ask general practitioners working in a range of different urban areas around NSW to describe their experiences of dealing with violent and aggressive patients. The study will be the first of its kind in Australia to provide an important insight into the level of violent and aggressive behaviour GPs are subjected to in city areas. One of the key areas of concern that has been reported in medical journals and the general press has been an increase in attacks on GPs making house-calls, this project will therefore be particularly focussed on GPs who provide after hours care. This study is important so in order to find out exactly what the incidence of violence against our urban general practitioners is, what type of violence is actually occurring, where it is occurring, who the perpetrators are, and also what the longer term psychological effects of abuse against general practitioners may be. The findings from this study will be used by the Commonwealth Government and Health Departments to plan better ways of providing after hours medical care. The findings may also be used to educate GPs and medical students about safety in the workplace.Read moreRead less
Parenting Style As A Mediator Of Psychosocial Risk Factors And Childhood Externalizing Behaviour Problems
Funder
National Health and Medical Research Council
Funding Amount
$113,160.00
Summary
It is imperative that effective interventions be developed and evaluated for children with externalising disorders (e.g. oppositional disorder, attention deficit order and conduct disorder). The prevalence of these problems in the community is high, the prognosis of children is poor, and externalising problems are passed on across successive generations in the same family. Childhood externalising problems are also one of the most costly behavioural disorders for society. Many studies have examin ....It is imperative that effective interventions be developed and evaluated for children with externalising disorders (e.g. oppositional disorder, attention deficit order and conduct disorder). The prevalence of these problems in the community is high, the prognosis of children is poor, and externalising problems are passed on across successive generations in the same family. Childhood externalising problems are also one of the most costly behavioural disorders for society. Many studies have examined the nature and course of externalising problems in older children and adolescents. However, little attention has been paid to the early onset of externalising disorders amongst preschool and early school-age children. Whilst the relationships between family risk factors (e.g. marital discord and maternal depression), parental management styles and children's behaviour problems are widely recognised, the exact nature and direction of these relationships remains largely unknown. This proposal will provide new information about the mechanism through which family risk factors such as marital discord or parental distress influence the onset and persistence of externalising problems in young children, via their effects on parents' behaviour management techniques. This information can then be used to instruct early intervention efforts for parents and families of children at risk of developing externalising behaviour problems.Read moreRead less