EVALUATION OF THE EFFECTIVENESS OF EXPANDED NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY
Funder
National Health and Medical Research Council
Funding Amount
$375,250.00
Summary
Newborn babies in Australia are routinely tested for certain treatable disorders. Testing began in the 1960's with systematic testing for phenylketonuria, a rare amino acid enzyme defect. It causes severe mental retardation which can only be prevented if treatment is begun in the first few weeks of life. By 1997, only three other disorders, congenital hypothyroidism, cystic fibrosis, and galactosaemia, had been added to the testing protocol as tests became available. Using the new technology of ....Newborn babies in Australia are routinely tested for certain treatable disorders. Testing began in the 1960's with systematic testing for phenylketonuria, a rare amino acid enzyme defect. It causes severe mental retardation which can only be prevented if treatment is begun in the first few weeks of life. By 1997, only three other disorders, congenital hypothyroidism, cystic fibrosis, and galactosaemia, had been added to the testing protocol as tests became available. Using the new technology of tandem mass spectrometry (MSMS) it is now possible to screen for up to 30 extremely rare, treatable metabolic disorders simultaneously and cheaply, but it is not clear how effective this is. A formal trial of MSMS screening, randomly assigning babies to be tested or not tested, does not seem feasible because of the rarity of the individual disorders (most with a birth prevalence much less than 1: 50,000). Huge numbers would be needed in the trial for statistical significance. We began MSMS screening in NSW April 1998 and in South Australia in February 1999. Victoria is proposing to start screening now, but there are as yet no plans for this screening in the other states. We would like to assess the effectiveness of MSMS newborn screening using the best possible evidence drawn from all data available in the whole of Australia. We plan to undertake an economic evaluation, comparing costs and benefits such as development, hospitalisations, medical complications and other outcome measures, in screened and unscreened babies and also assess harms from screening. Because only 6 specialised laboratories in Australia, in Brisbane (2), Sydney, Melbourne, Adelaide, and Perth can diagnose these disorders, we are confident that we know of all diagnosed cases of the disorders in question. We hope to be able to show whether or not there is a benefit to affected babies by implementing newborn screening tests for these rare diseases.Read moreRead less
The Significance Of Human Metapneumovirus In The Australian Paediatric Population
Funder
National Health and Medical Research Council
Funding Amount
$457,625.00
Summary
A newly discovered paramyxovirus, human metapneumovirus (hMPV), shows clinical and virological charcteristics very similar to those of human respiratory syncytial virus (hRSV). Human RSV is the major cause of acute lower respiratory illness in infants and accounts for more than 1 million deaths world wide annually. Most infants are infected in their first year of life, and re-infection is common. Genetic variation of the virus is thought to play a critical role in its ability to escape the immun ....A newly discovered paramyxovirus, human metapneumovirus (hMPV), shows clinical and virological charcteristics very similar to those of human respiratory syncytial virus (hRSV). Human RSV is the major cause of acute lower respiratory illness in infants and accounts for more than 1 million deaths world wide annually. Most infants are infected in their first year of life, and re-infection is common. Genetic variation of the virus is thought to play a critical role in its ability to escape the immune response and establish multiple sequential infections in the same host. Currently, we have no knowledge of the extent that hMPV exists in the Australian population, nor do we know if hMPV is a significant respiratory pathogen in paediatric patients. This research aims to determine the importance of hMPV as a respiratory agent, and will establish the rate, age of exposure, and incidence of hMPV infection in Australian children. In addition, we will identify the hMPV strains (genotypes) that infect local children, and the difference, if any, between these and virus strains detected in children from other community groups, and from overseas. Such data is invaluable in devising a future vaccine strategy for hMPV, and the study of the genetic variability among Australian strains will have profound implications for public health. This research project is a preliminary study into the clinical and virological significance of hMPV, in children, and will form a basis for future research projects. Once this preliminary data is obtained, further studies are possible to determine the cellular immune response to hMPV infection and its role in long-term protection. Also,it is likely that hMPV, like hRSV, may prove to be an agent associated with long-term decreased pulmonary function and airflow limitation perhaps developing to asthma.Read moreRead less
Previous research has shown that SIDS victims have a number of subtle abnormalities that set them apart from the normal population. These include the occurrence of upper airway obstruction in sleep, a reduced ability to awaken from sleep and abnormalities of the automatic control of heart rate and blood pressure in sleep. These body functions are controlled by a component of the brain called the autonomic nervous system which controls the heart and other internal functions by means of nerves cal ....Previous research has shown that SIDS victims have a number of subtle abnormalities that set them apart from the normal population. These include the occurrence of upper airway obstruction in sleep, a reduced ability to awaken from sleep and abnormalities of the automatic control of heart rate and blood pressure in sleep. These body functions are controlled by a component of the brain called the autonomic nervous system which controls the heart and other internal functions by means of nerves called the parasymmpathetic and sympathetic systems. The purpose of this project is to undertake studies of the autonomic system in normal infants and in those infants who are considered to be at risk for SIDS. As SIDS occurs almost exclusively in sleep it is important to study the infant?s heart rate and blood pressure responses to various challenges whilst asleep. All infants (both controls and subjects) enrolled in the protocol will therefore undergo overnight sleep studies during which their automatic responses to a variety of stimuli will be measured. Once we have established the normal response to these stimuli we can then compare them to the results of the at risk group. If, as we anticipate, there is a difference between our at risk group and the normal controls in automatic function then we will measure some of the stress hormones in the body which reflect the function of the autonomic nervous system. If there is a difference in the levels of these hormones between the normal and the at risk groups which correlates with the expected subtle abnormalities in function we may be able to devise an accessible and quantifiable measure for those infants at risk of SIDSRead moreRead less