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Rogue gene may help scientists save babies at risk of cot death.

Byline: By Robin Turner, Darren Devine and Tryst Williams Western Mail

Welsh scientists have identified a rogue gene that could provide an 'early warning system' to save the lives of babies susceptible to cot death.

The discovery of a new genetic mutation that may in some cases contribute to the tragic syndrome was announced yesterday by the team from the University of Wales, Swansea.

Scientists at the university hope the breakthrough can provide better information about which babies are most at risk of cot death.

The discovery came as the team, led by Professor Mark Rees, carried out complex research looking at genes thought to be responsible for the rare hereditary neurological disorder hyperekplexia.

Also known as 'startle syndrome', the disorder leaves children with an exaggerated startle reflex and prolonged muscle stiffness.

It can also cause infants to unwittingly hold their breath for prolonged periods, particularly during sleep, leading to brain damage or cot death.

The researchers at the university's School of Medicine found a mutation in the SLC6A5 gene among six children severely affected by the condition during their first year, despite previous research linking a different gene to the disorder.

A spokeswoman for University of Wales, Swansea, said, 'The findings provide further insights into other neurological movement disorders, epilepsy and susceptibility to sudden infant death syndrome.'

The discovery means that adults and children could now be screened for the mutated genes.

Professor Rees said that early medical intervention was vital in such cases.

But he said the research would not be used to screen babies before birth for the defective gene.

Instead it will help parents and medical experts understand the increased risk of cot death if a child is diagnosed with hyperekplexia.

'Hyperekplexia has an obvious clinical presentation at birth with breath holding and muscular stiffness as a reaction to things like loud noises and running bath water,' he said.

'There is evidence that hyperekplexia, because of the muscle stiffness and breath-holding, can potentially cause Sids [sudden infant death syndrome].

'There are no implications for pre-natal screening, but presentation of the symptoms of hyperekplexia at birth would allow for rapid genetic screening of the newborn child and then all the measures could be taken to prevent cot death.'

Every week in the UK about seven babies under the age of one die from cot death.

Although the cause of Sids is unknown, some factors seem to increase the risk, including putting babies to sleep face down, exposure to cigarette smoke, overheating, and sharing a bed with parents.

But it is also suspected there is a genetic link in some of the deaths, as with the well-established link with hyperekplexia.

Joyce Epstein, director of the Foundation for the Study of Infant Deaths, said she was unable to comment on the new research until experts had a chance to look at the findings in detail.

But she added, 'Nobody knows what causes Sids so research has to look into every area. We're looking at a range of factors, including genetics.

'Nobody thinks genetics is going to be the entire answer.

'The view is that a variety of things come together in a baby at a particularly vulnerable time.'

She also reiterated that until the latest research is evaluated, the existing advice offered to parents continues to hold true.

The role of factors such as genetics in Sudden Infant Death Syndrome have come under the spotlight following a string of cases in which parents were wrongly convicted of murdering their babies.

Controversial theories expounded by experts such as Professor Roy Meadow, suggesting that the chances of more than one sudden infant death in a family was unlikely to be the result of natural causes, have come under intense scrutiny.

The latest research, published yesterday in scientific journal Nature Genetics, was led by the Swansea team as part of a wider international effort involving researchers from the University of London as well as scientists from Australia, Canada, Europe, the US and New Zealand.

The work of University of Wales, Swansea's School of Medicine has been focused at the new Institute of Life Science, a pounds 50m collaborative venture between IBM, the Welsh Assembly and the university. Sudden Infant Death Syndrome: Sids or 'cot death' is the sudden and unexpected death of a baby for no obvious reason. Post-mortem examinations may explain some deaths but it is those that remain unexplained that are usually registered as Sids or cot death.

In 2004 a total of 329 babies died of cot death in the UK. It mainly affects younger babies. Most of last year's deaths (309 of the 329 babies) occurred in infants under the age of one while during the period 2000-04 89% of all cot deaths were in babies under six months.

In Wales, 22 infants died of cot death in 2004.

Cot death affects boys more than girls - 59% of the deaths between 2000 and 2004 were among baby boys.

Since the launch of the 'reduce the risk' campaign in Wales and England in 1991 - an awareness-raising campaign backed by the likes of former TV presenter Anne Diamond, who lost a son to the syndrome - the rate of sudden infant deaths has fallen by about 75%.

Cot death is the leading form of death in babies between one month old and a year old. To put it into context, it claims more babies' lives than meningitis, leukaemia, other forms of cancer and household and traffic accidents put together. Reducing the risk: Always put your baby to sleep on its back.

Both parents should stop smoking during pregnancy to avoid exposing the baby to cigarette smoke.

Make sure your baby doesn't get too hot.

Keep your baby's head uncovered - put it in its cot with its feet down at one end so it can't wriggle down under the covers.

Don't share a bed with your baby if you or your partner are smokers, have been drinking alcohol, have taken drugs or medication that makes you drowsy or are excessively tired.

Get urgent medical advice if your baby is unwell.

Don't fall asleep with your baby on a sofa.

Let your baby sleep in a cot in your room for the first six months.
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Publication:Western Mail (Cardiff, Wales)
Date:Jun 27, 2006
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