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Emeritus Professor Alastair MacLennan (email)
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Robinson Institute, The University of Adelaide
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10,000 Australians needed for world-first cerebral palsy study

From left: Professor Alastair MacLennan from the University of Adelaide and Jimmy Barnes demonstrating how to do a cheek swab.
Photo by Chris Sprod.

From left: Professor Alastair MacLennan from the University of Adelaide and Jimmy Barnes demonstrating how to do a cheek swab.
Photo by Chris Sprod.

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Australian music legend Jimmy Barnes with a cheek swab.
Photo by Chris Sprod.

Australian music legend Jimmy Barnes with a cheek swab.
Photo by Chris Sprod.

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Jimmy_Barnes_message01 (240.22K)
Listen to Jimmy Barnes's message of support - clip #1.

Jimmy_Barnes_message02 (246.41K)
Listen to Jimmy Barnes's message of support - clip #2.

Thursday, 3 July 2008

Do you have the cheek to help with cerebral palsy research?

That's the question being asked by researchers from the University of Adelaide, who have today launched a major national study that seeks to involve 10,000 Australians in a bid to better understand the possible genetic causes of cerebral palsy.

The study - requiring cheek swabs of Australian mothers and their children - will be the largest of its kind in the world.

Australian music legend Jimmy Barnes, whose daughter Elly-May has had mild cerebral palsy all her life, has thrown his support behind the research. In a video endorsement, Jimmy has urged Australians - especially those whose children suffer from cerebral palsy - to participate in the study.

One of the world's most serious complications during pregnancy and birth, cerebral palsy is a disability that affects one in every 500 children born in Australia, and the consequences are life long.

The study

Australian mothers whose children suffer from cerebral palsy are needed to take part in the study, which involves a simple cheek swab for both the mother and the child.

In what's believed to be a first for a national trial in Australia, any mother and Australian-born child aged 5-18 wanting to take part in the study can "sign up" by simply sending an SMS with their name and address to a dedicated national study mobile phone number: 0439 201 795.

The researchers need 5000 participants from families affected by cerebral palsy, while the other 5000 without an affected child will consist of a control group.

The research is being led by Professor Alastair MacLennan, Head of Obstetrics & Gynaecology at the University of Adelaide and head of the South Australian Cerebral Palsy Research Group, the world's leading research group into the causes of cerebral palsy. PhD student Michael O'Callaghan is the national coordinator of the trial.

"Recent studies by our group suggest that cerebral palsy may be associated with genetic and other mutations that may increase blood clotting within the brain. An association between cerebral palsy and different types of herpes virus infection - such as cold sores and chicken pox - has also been discovered in South Australian studies," Professor MacLennan says.

"The next step is to see if this is true in a much larger population, comparing the genetics of both mother and child," he says. "Such a study does not require a major commitment from Australian families - all we need is their support to obtain a cheek swab and to fill out a short survey."

About cerebral palsy

People with cerebral palsy lack control of their movement and posture as a result of brain injury in the neuro-motor region. The symptoms vary greatly in severity, ranging from poor muscle co-ordination to quadriplegia.

Cerebral palsy is usually present from birth. The injury to the brain does not get worse over time.

"It was once thought that cerebral palsy was caused by low oxygen levels during birth. However, this is rarely the case," Professor MacLennan says.

"Obstetric care and caesarean deliveries have increased six-fold over the last 50 years, but the incidence of cerebral palsy cases has remained the same. Most of the cases are associated with problems during pregnancy and possible genetic susceptibility. Currently there is no cure or way to prevent cerebral palsy," he says.

Potential impact of the project

"If our research confirms that there are genetic mutations that can lead to cerebral palsy, specific disease preventions may be available for individuals," Professor MacLennan says.

"In the future, gene therapy may allow doctors to alter the aberrant genes in a mother or fetus, or specific drugs could be used to counter the effect of genetic mutations and ultimately prevent a child from developing cerebral palsy before birth.

"Knowledge of a patient's genetic makeup and tailored administration of anti-inflammatory drugs before and during pregnancy may be possible. Immunisation against viral infections also may be a future option when this preventative therapy is available," he says.

How to participate

The Australian Cerebral Palsy Research Study is looking for:

  • 5000 participants from families (mothers and children) affected by cerebral palsy; and
  • 5000 participants from families (mothers and children) not affected by cerebral palsy.

In total, the study hopes to obtain cheek swabs from 10,000 people right across Australia over the next two years.

"Because these genetic mutations have only been investigated in Caucasian populations, at this point it is only scientifically and statistically feasible to study white Caucasians," Professor MacLennan explains. "Hopefully cerebral palsy studies will investigate other ethnic groups in the future."

Mothers and children who choose to enrol in this study will be able to collect their own genetic (DNA) cheek skin samples. Cheek swabs will be posted to the participants, along with instructions and a short questionnaire.

Those who take part in the study will be required to rub the cheek swab gently on the inside of their cheek for 60 seconds. The mothers will be asked to complete a short survey about themselves and the pregnancy of their child.

A reply paid envelope will be supplied for the return of the swab and questionnaire. Privacy will be maintained at all times and personal results will never be identified.

Enrolment is easy

To find out more about the study or to enrol, either:

SMS your name and address to: 0439 201 795, or
Phone (freecall): 1800 800 254, or
Fax: (08) 8161 9111, or
Email: cerebralpalsy@adelaide.edu.au, or visit
Website: www.adelaide.edu.au/cerebralpalsy

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