Autism and Cancer: Scientists Investigate an Unlikely Link

Now diagnosed in 1 out of 88 children in the United States, autism is, as one organization notes, “more common than childhood cancer, juvenile diabetes and pediatric AIDS combined.”

Comparing autism to diseases such as cancer is misleading: there are no known biomarkers for autism; treatment for an autistic child often involves a combination of educational and medical therapies; autism is a lifelong disability but not a disease you can die from.

In the course of very preliminary research on mice, a team of scientists has made what seems a surprising finding that, in a small proportion of autistic individuals, mutated cancer or tumor genes are apparently the cause of them being autistic.

Gene Mutations and Autism

Finding a sort of connection between autism and cancer was not the intended goal of the researchers, who were studying the genetics of autism in the hope of developing medications for the neurological, behavioral and other challenges that autistic individuals can face.

Previous research had found that ten percent of children with mutations in a gene called PTEN (which cause cancers of the breast, colon, thyroid and other organs and also macrocephaly — having an unusually large head circumference) are autistic. Other research has shown that about half of children with gene mutations that can lead to tuberous sclerosis (which raises the risk for some kinds of brain and kidney cancer) are autistic.

Research to Find a Treatment

There are drugs to treat people who have these gene mutations and Dr. Mustafa Sahin of Boston Childrenís Hospital is one scientist who has been studying mice to see whether drugs used to treat tumors caused by tuberous sclerosis gene mutations might also treat autism in those with the same mutated genes. Sahin and other researchers deleted tuberous sclerosis genes in the cerebellums of the mice and observed that they had unusual repetitive and social behaviors — grooming themselves excessively and preferring an inanimate object (a plastic cup) to being with other mice — that could be seen as similar to behaviors observed in autistic individuals.

But when Sahin gave the mice rapamycin, which “targets the tuberous sclerosis gene and blocks a protein involved in cell division,” they ceased to obsessively groom themselves. They also preferred the company of live mice to the plastic cup and showed improvements on tests of learning and memory — that is, they exhibited a decrease in “autism-like” behaviors.

Sahin has now undertaken a trial of everolimus, a drug similar to rapamycin, with autistic children. Each participant takes the drug or a placebo for six months; the study is to be completed by December of 2014.

Don’t Conflate Autism and Cancer

Such research is, it must be emphasized, at a very early stage. As Emily Willingham, a scientist and parent of children on the autism spectrum, points out, it’s crucial not to take research about autism and gene mutations associated with cancers and conflate the two. Doing so can can parents to feel “angst about a predisposition to cancer” and also “anger autistic advocates and those who care about them because of its careless comparison of autism and a fatal disease.” The†mutations in the PTEN gene that have been linked to autism actually “tend to be different from those for PTEN-associated cancer,” Willingham writes; one study indeed says that there is “no correlation between PTEN-associated cancers and PTEN-associated [autism spectrum disorders].”

In other words, any association between autism and cancer must be viewed warily. Still, the reason for the research, to find medications that might help autistic individuals, cannot be discounted.

One family with 10-year-old son Richard Ewing (who is autistic and has the PTEN gene mutation) have been traveling from their home in Nashville to Boston to participate in Sahin’s study.†The trips have not been easy (“traveling with a kid who canít talk, who has food issues, who is not patient,” says Richard’s father in the New York Times), but the hope of finding some treatment to Richard is paramount, a feeling I know very well.

Medications have not provided any sort of cure for my teenage autistic son Charlie, but they have more than helped him to learn and get the most out of school and summer camp. They have probably helped to keep him out of a residential facility and to live at home with us. Families like the Ewings and my own more than appreciate the ongoing efforts to find answers to help autistic individuals like Richard and Charlie achieve all they can and lead the best lives possible.

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Photo from Thinkstock


Paul M.
Paul M4 years ago

Alison V. I'd just like to ask Teresa W. why she commented that it's scary that autism is becoming more common.

I'm glad you made this point. There is nothing scary about people with autism, but it is scary if there is an increase in numbers as the result of some factor not understood. Certainly it may well just be better observation, but equally a rise might be a warning sign that there are factors we should be paying attention to. This doesn't demean those who are affected, but it is important, and, as it isn't understood, encourages fear.

Lynn C.
Lynn C4 years ago


Joy Mcronald
Joy M4 years ago

Thanks for info...

Anna Undebeck
Anna Undebeck4 years ago

Thanks, interesting.

Marian A.
Marian A4 years ago

So much still to learn

Tim C.
Tim C4 years ago


Fi T.
Past Member 4 years ago

This might be a doorway to help more people

Autumn S.
Autumn S4 years ago

thanks for the article

Bill Eagle
Bill E4 years ago

Thanks for an informative article. Autistic people can lead reach and full lives and contribute much.

Yvette S.
Yvette S4 years ago

Thanks for posting