Large Map
  • More health news
Studying breast cancer treatment choice
Studying breast cancer treatment choice

UConn researchers are looking into what's behind a woman's …

Answer to Pratt & Whitney cancer study
Answer to Pratt & Whitney cancer study

We're learning more about a story we've been following here on …

Avoiding adverse drug reactions
Avoiding adverse drug reactions

It's estimated that adverse drug reactions can kill thousands …

Decade-long cancer study at Pratt & Whitney ends
Cancer study at Pratt & Whitney ends

A massive, 11-year study of brain cancer at jet engine …

Doctors offer hyperbaric therapy to ease pain
Doctors offer hyperbaric therapy

More doctors are now offering hyperbaric therapy in their …

Advertisement

Genetic mutation linked to autism

Updated: Thursday, 12 Apr 2012, 8:51 PM EDT
Published : Thursday, 12 Apr 2012, 4:12 PM EDT

New Haven, Conn. (WTNH) --A study done by Yale Researchers has linked genetic mutations to autism.

Eryn Ifill, 12, has been diagnosed with autism spectrum disorder, and she isn't shy when it comes to talking about what it is like to live with autism.

"I just say, I don't have autism, I live with it," said Ifill.

Ifill is among the more than 2,000 children in Connecticut living with autism.

"Autism is like being like you can't talk that well or you're kinda disabled, or you can't do some stuff, but that's pretty much it," said Ifill.  

Research has allowed people to get a better understanding of what autism is. The latest research includes a study from Yale researchers at the Yale School of Medicine.
 
"You are looking at traces that show the sequences of the DNA," said Dr. Matthew State of the Yale School of Medicine.

The findings concluded that genetic mutations at conception are linked to autism.

"They would look down and where there was a situation where both of the parent did not have the mutation but then the defective child did have the mutation, we would see it in that trace," Dr. State.

Dr. State is the Senior Author of the study. Dr. State and his colleagues have found that about 15 percent of autism cases in families with a single autistic child are associated with the spontaneous mutations.  
   
"Now that we have been able to find them, we know there are maybe a thousand different spots in the genome that any one of them, if they get hit by a spontaneous mutation could increase the risk of autism," said Dr. State.
    
The data also concluded that older parents have a higher risk of having a child with autism.  Dr. State was quick to point out that does not explain the rise of autism cases, instead he said it gives a clearer understanding of what's going on at the genetic level.

"If we understood autism the way we understood hypertension or cancer, we would be able to treat autism as effectively as we can treat hypertension or now we are able to treat cancer," said Dr. State.       

Ifill's mother is open to autism treatments.
 
"Families can get interventions at a much earlier age, and there's so many resources available to us, especially here in Connecticut," said Megan Ifill, Eryn Ifill's mother.

With the study's results translating into a slight increase in the risk of autism, Dr. State said the next step is to focus on how to develop new treatments using the information that is now available.

  • Share Your Opinion.
Advertisement
Advertisement
  • The News in Photos

Travel: Top 10 beaches in the US

This may be hard to believe in the aftermath of Superstorm Sandy, but an annual …