Receiving a fetal alcohol spectrum disorder (FASD) diagnosis isn’t easy. First, it requires confirmation of prenatal exposure to alcohol. If—and only if—this is confirmed, a lengthy referral process ensues, followed by a diagnostic assessment which usually doesn’t take place until a child is school-aged, and often even later.
But research has shown that early interventions can profoundly improve outcomes for children with FASD. The challenge is that accessing these resources typically relies on having a diagnosis.
“We want to offer interventions when a child’s mind is still plastic enough where you can maybe change primary outcomes on top of secondary outcomes,” says Dr. Geoff Hicks, who leads the Regenerative Medicine Program at the University of Manitoba, stressing the importance of intervention before a child reaches the age of six.
Dr. Hicks is co-leading a project supported by Kids Brain Health Network (KBHN) to develop a genomic assessment tool that would identify infants and children at-risk of FASD, who could then access interventions before a formal diagnostic assessment takes place.
Canada’s current FASD diagnostic guidelines include an at-risk designation, intended for people with confirmed prenatal alcohol exposure and neurodevelopmental delays, but who don’t quite meet the criteria for an FASD diagnosis.
“If our tool is able to identify children at high-risk of developing FASD, then that’s a tool that can allow for a diagnosis of this “at-risk” category,” says Dr. Hicks.
The idea, explains Dr. Hicks, is that the result of the genomic tool would be indicated in the child’s medical chart to allow access to care and early intervention, as well as a recommendation for a complete diagnostic assessment at an appropriate time.
The development of the tool is based on epigenetics—changes that happen to a gene as the result of environmental influences, such as prenatal alcohol exposure. The test itself would simply be a cheek swab, which would look for epigenetic signatures that are unique to people with FASD.
The idea is that this would be a quick, cost-effective way to identify children at-risk of having the disability, including situations where confirmation of prenatal alcohol exposure isn’t disclosed.
This project builds on previous work supported by KBHN (then NeuroDevNet), which sampled over 200 individuals and identified several epigenetic signatures unique to those with FASD— the largest investigation of prenatal alcohol exposure effects on the human epigenome to date.
Hicks and his team are now working to validate those biomarkers.
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