Repeated concussions among youngsters who play football and other rough-and-tumble sports may lead to dementia later in life, according to a Manhattan scientist who's floating the idea of genetic testing to find athletes most at risk.
It is one of two proposals being made this week for the genetic screening of children with brain conditions. The other is a ready-for-market test for a familial form of autism.
The promising yet controversial way of ferreting out young athletes at risk of dementia involves a test already on the market, which pinpoints the APOE-4 gene associated with Alzheimer's disease.
Dr. Samuel Gandy, who chairs Alzheimer's research at The Mount Sinai School of Medicine, wants further studies into benefits of screening young athletes. "People with APOE-4 are very susceptible to traumatic brain injury," And the presence of the gene, he added, "triples their risk for Alzheimer's disease."
Gandy said it's also well-established that repeated concussions are a risk factor for dementia later in life, so kids who carry the APOE-4 gene -- and additionally suffer head trauma -- are at exceptionally high risk of dementia in older age.
"The two together are synergistic," Gandy said of head injury and the APOE-4 gene. "Testing is something that has been murmured about for years.
"The APOE-4 association with Alzheimer's was first reported in 1993, but no one has been looking at APOE-4 in kids and adolescents. The wake-up call for me was a college football player who committed suicide and who was found to have chronic traumatic encephalopathy -- CTE," he said.
People with CTE also tend to carry the APOE-4 gene, Gandy said. CTE is the medical term for what was once called dementia pugilistica, once thought to occur only in boxers.
Now, scientists know many types of athletes can develop CTE, as can soldiers who sustain head trauma on the battlefield.
Gandy spells out reasons for the testing in the current issue of Science Translational Medicine.
However, in a recent poll of experts in Alzheimer's and CTE, conducted by Gandy, 66 percent opposed using current APOE testing for sports participation in high schools or colleges.
Seventy-five percent were against testing prospective armed services enlistees. Yet, nearly half said they would use APOE screening to make sports decisions for their children.
Dr. Gad Klein, co-director of the Long Island Concussion Center in Rockville Centre, said he's opposed to genetically screening athletes. "At this point in time there doesn't seem to be any reason to genetically test children or adolescents for contact sports," he said.
Meanwhile, a Boston company has announced the development of a genetic test for autism, aimed at families with at least one autistic child.
Dr. Francois Liebaert, vice president of research and development at IntegraGen, a Boston-area biotechnology company, said infants between the ages of six months and 13 months can be tested.
"This test is for families that have a second or third child," Liebaert said. "In these families, the risk is 1 out of every 4 boys and 1 out of 10 girls."
He said the test would be made available through doctors.
But Michael Smith, executive director of the Association for Children with Down syndrome and Autism in Plainview disliked the idea of early testing. "I'm not sure what a parent of a 6-month-old would do with that information. Kids with autism are developing typically until about 20 months, and it's only at that point you need to begin interventions," Smith said.