December 5, 2013 Sections
Winnipeg Free Press - PRINT EDITION
CALL it the Angelina Jolie gene for FASD.
Scientists at the University of Manitoba have just won a $1.3-million grant to find the genetic markers for fetal alcohol spectrum disorder, a brain injury caused by women who drink while pregnant that can condemn a child to a life of behavioural and cognitive problems.
That could in turn produce the holy grail of FASD -- a simple, cheap blood or tissue test that can determine whether people, especially newborns, suffer from the disorder. Then, targeted programs could start right away, which could dramatically improve a child's chances of a happy, productive life.
-- lead researcher Jim Davie
"There is a lot of excitement around this," said lead researcher Jim Davie, an epigeneticist based out of the Manitoba Institute of Child Health. "I think the chances of us finding something are pretty high."
A genetic test would also begin to answer a troubling question that has long plagued FASD experts: How many people have the disorder? No reliable count exists, though experts believe it is more common than Down syndrome and autism combined.
Unlike the BRAC1 mutation, the one linked to breast cancer made famous recently by celebrity Angelina Jolie, the FASD research involves epigenetics, the study not of a mutation but of how outside factors, such as alcohol, affect how a gene works.
Davie said alcohol's effects are myriad. The trick is to pick a few of the best indicators and build a test around those.
The research involves about five different projects, including lab work on mice, frogs and even on a collection of autopsy brains of people who had FASD.
Currently, diagnosing FASD is a long process of cognitive and behavioural tests. It relies, to a large degree, on an admission by a mother that she drank while pregnant -- a tough thing to do. In Manitoba, only children can get a diagnosis, and most aren't sent for testing until they're already failing in school, acting out or even involved in crime. Adults are out of luck.
Once a diagnosis is made and the nature of the brain injury is understood, things such as school, job-training, life skills, speech and occupational therapy and counselling can be tailored to each child.
At some point, the U of M research team will need to see if the genetic test works in the general population. Community health researcher Brenda Elias has begun laying the groundwork for that. She is working with First Nations that are part of the Southeast Resource Development Council on research that looks beyond the genetics at how other factors such as nutrition, income and education affect how FASD manifests itself.
The participating First Nations haven't been chosen yet, but they could become the first communities to try out the new genetic test to ensure it is effective.
"On the horizon, we are going to be able to make a difference in people's lives," said Elias. "If we can find people with FASD early, we can intervene early."
Davie said it could take about a decade for any lab discoveries to end up in doctors' hands for everyday use. Once the science is settled, there are other policy hurdles such as the economics of such a test, how easy it is for clinicians to use, whether parents would agree to a test if it reveals the mother drank and ensuring the proper help is available to people whose tests come back positive.
Fetal alcohol spectrum disorder
Affects an estimated 11,000 Manitobans, including 2,000 children. That number is likely conservative. No one has really counted.
Costs Canadians at least $5.3 billion each year for the health care, education and social-service needs of people living with FASD.
Stunts individual brain cells and major parts of the brain, such as the main processing centre of the cerebellum and the corpus callosum. It is brain damage, just like an injury caused by head trauma in a car accident. Unless you're familiar with the disability, it can often seem like people with FASD "just don't get it" or lack basic common sense. They might make the same mistakes again and again or have trouble seeing the consequences of their actions. They might need step-by-step instructions for simple tasks such as doing the dishes. They can have memory and communication problems or trouble sitting still. They can be sensitive to touch or light. Everyone with FASD is different.
Is virtually invisible and mired in stigma. Diagnosis is tricky, services are spotty, and schools, the courts and workplaces are set up for people with FASD to fail. People with FASD often get lured into crime, drop out of school and become victims of sexual assault and drug addictions.
Is widely seen as an aboriginal problem. It is not. Alcohol-related birth defects affect every race and income level. Experts say the group most at risk are students or professional women in their late 20s or early 30s who binge drink on the weekends and may not realize they are pregnant until the damage is done. Having said that, studies in the U.S. and on some Manitoba reserves suggest FASD rates are higher among aboriginal people.
For more information visit: http://www.winnipegfreepress.com/special/fasd/.
Republished from the Winnipeg Free Press print edition July 11, 2013 A3
Updated on Thursday, July 11, 2013 at 6:24 AM CDT: