Autism Spectrum Disorder May Not Develop Entirely In Human Brain; Defects In Skin’s Nervous System Found

One out of every 68 children suffers from an autism spectrum disorder (ASD), a condition that for years scientists have believed originates inside the brain. A new study by Harvard Medical School researchers reveals experts may have been wrong all along, and that ASD may not involve just the brain, but the skin too. This makes sense since many of the symptoms people with autism experience involve issues with sensory processing, which makes them hypersensitive to various sensory stimuli — among them, touch.

“An underlying assumption has been that ASD is solely a disease of the brain, but we’ve found that may not always be the case,” said the study’s senior author David Ginty, a neurobiology professor at Harvard Medical School, in a statement. “Advances in mouse genetics have made it possible for us to study genes linked to ASD by altering them only in certain types of nerve cells and studying the effects.”

Many people with autism are often hypersensitive to light touches, a sign that indicates to experts that part of their disorder is tactile in nature. It’s often possible to calm a person whose sensory system is believed to be overstimulated by using deep pressure applied through hugs and heavy blankets. Knowing this, Ginty and his team tested how mice reacted to a light puff of air on their backs and how well they could differentiate various textures. Because certain gene mutations were related to ASD in humans, such as Mecp2 and Gabrb3, researchers found mice with the mutations were startled by the puffs of air, compared to normal mice. They were also unable to tell the difference between textures.

“Although we know about several genes associated with ASD, a challenge and a major goal has been to find where in the nervous system the problems occur,” Ginty said. “By engineering mice that have these mutations only in their peripheral sensory neurons, which detect light touch stimuli acting on the skin, we’ve shown that mutations there are both necessary and sufficient for creating mice with an abnormal hypersensitivity to touch.”

Their findings, published in the journal Cell, reveal that the sensation of touch travels along receptors at the surface of the skin and connects into the central nervous system. The sense of touch is key to socialization and navigation, which is why an abnormal reaction to it can make it problematic for a person with ASD to function in their day-to-day life.

Ginty concluded: “We think it works the same way in humans with ASD.”

Baby AutismAutism may stem from outside of the brain, leading researchers to search the central nervous system for answers.Photo courtesy of Pixabay, public domain

Currently, researchers have only found this effect in mice with anxiety problems that resemble autism, which limits them in being able to predict exactly how it will play out in a human brain. If removing the genetic marker in humans works the same way it did in mice, the approach might turn the volume down on how sensitive those with autism are to touch.

However, being able to see how the receptors in the central nervous system differ depending on ASD gene mutations reveals that the brain may not be working alone. Instead, researchers believe that identifying ways to target both the brain and the central nervous system could help doctors treat the disease in a way that helps manage some of the anxiety behaviors and difficulties with social interactions that are common among people who suffer from the condition.

Dr. Mark Zylka is a Harvard University professor with expertise in the mechanisms of pain and autism. Though he wasn’t involved in the study, he told Medical Daily: “It will be very difficult to eliminate a faulty gene in a human. However, knowing what gene is mutated in a child with autism could, in the future, be used to treat that child with medicines that are personalized for their unique mutation. This study will refocus scientists on the peripheral nervous system as a possible source of some of the symptoms of autism.”




My Son Has the Kind of Autism No One Talks About – Term Life

Like most parents of children with autism, I have been reading about the family in California who is being sued by several families in their neighborhood. The lawsuitcontends that their child is a public nuisance because of his behaviors that his parents failed to fix.

One of the plaintiffs in this case stated “This is not about autism. This is about public safety.”

But he is wrong. This is absolutely about autism. It’s just not about the autism people hear about.

The media shows us all of the feel-good stories, like the child with autism who gets to be the manager of the high school basketball team, or the boy with autism who goes to the prom with the beautiful girl, or the girl with autism who is voted onto the homecoming court. We light it up blue every April and pat ourselves on the back for being so aware.

But we aren’t aware.

Because for every boy with autism who manages his high school basketball team, there are 20 boys with autism who smear feces. And for every girl with autism who gets to be on the homecoming court, there are 30 girls with autism who pull out their hair and bite their arms until they bleed. And for every boy with autism who gets to go the prom, there are 50 boys with autism who hit and kick and bite and hurt other people.

This is the autism that no one talks about. This is the autism that no one wants to see.

We aren’t aware.

One of the plaintiffs said “We’re not upset about him being autistic. We are concerned and upset about his violence (toward) our children.”

There is no way to be upset by this child’s behaviors and not be upset about autism.

Autism and behaviors go hand-in-hand. Why? The behaviors are communication. Individuals with autism often can’t communicate in a way that typically functioning people can understand. So they do things to get their needs met. And often the things they do are scary and violent.

My Son Has the Kind of Autism No One Talks About — Part 2

We aren’t aware.

My son, who is the same age as the child in this story, was extremely aggressive when he was younger. He did all of the things that the child involved in this lawsuit did. My son ran after other children on the playground just to push them down. He hit. He kicked. He bit. He pulled hair. And I never knew what was coming. For the longest time, I would flinch when he ran up to me…I didn’t know whether he was going to hug me or hit me. Can you imagine, as a mom, what that’s like? To flinch when your child runs to you?

We aren’t aware.

Because I didn’t know what my son was going to do to other children, we stopped going to the park. We stopped going to the Mommy and Me class at the library. We started going to the grocery store at 6:00 a.m. when most people weren’t around. He didn’t go to daycare but had a sitter at home so he wouldn’t be around other kids in a daycare setting. I essentially isolated him in order to keep other people safe. Can you imagine what it’s like to be a mom and not be able to take your child to the park? Or have your child attend birthday parties? Or have play dates?

We aren’t aware.

Because of my need to isolate my son, I also isolated myself too. I watched from my window as other moms in the neighborhood sat in their camp chairs and chatted while their children played. I couldn’t join them because my son couldn’t be around the other kids. Once a mom asked if my son could come to their house and play with her son. Can you imagine what it was like to feel so excited and then feel so ashamed when, after explaining my son’s issues to her so she would be aware, that invitation was rescinded?

We aren’t aware. Not at all.

But we can be. We can open our eyes and understand that autism isn’t all about the high functioning child who is “quirky” but OK to be around. Autism isn’t all about the six-year-old who can play Piano Man better than Billy Joel. Autism can be hard. Autism can be sad. Autism can be messy. Autism can be violent. Autism can be isolating.

My Son Has the Kind of Autism No One Talks About — Part 2

Once we become really aware, lawsuits like this won’t happen. Why? Because instead of putting blue lights on our front porches, we will go outside with our kids and we will help them play together…typically functioning kids and kids with autism. We will get to know our neighbors and we will embrace the children with behaviors and embrace their parents along with them.

We will learn what things trigger our child’s classmate who has autism so that we can help the children interact while avoiding things that will cause aggression. We will be a true village, including those who can model appropriate behaviors and those who are trying so hard to learn them. We will work on teaching our children not to hit and how to avoid being hit.

The parents involved in this lawsuit, on both sides, need to do more. More education, more understanding, more inclusion and more involvement.

Now tell me, is autism the real public nuisance?

We can become aware … if we really want to.


Newest “Sesame Street” Muppet has autism: Meet Julia

Julia, the first Muppet with autism, was able to get to Sesame Street.

The orange-haired, green-eyed puppet, who will be debut on the beloved PBS childhood show in April, made her first appearance on “60 Minutes” Sunday night.

The opening of the episode, which shows Elmo and Abby Cadabby introducing Julia to Big Bird, shows the new girl reluctant to shake hands with the bird.

“It’s tricky because autism is not one thing, because it is different for every single person who has autism,” said “Sesame Street” writer Christine Ferraro. “There is an expression that goes, ‘If you’ve met one person with autism, you’ve met one person with autism.”


“60 Minutes” reporter Lesley Stahl, who joined the episode, spoke to Big Bird and Elmo about helping adjust to how Julia reacts to situations.

“We had to explain to Big Bird that Julia likes Big Bird. It’s just that Julia has autism,” Elmo said. “So sometimes it takes her a little longer to do things.”

As for how Julia was created in the Jim Henson Workshop, Rollie Krewson said they had to build two sets of arms for the Muppet: one for when she’s stationary and one for when she’s upset and flaps her arms.

Julia, the first Muppet with autism, will debut on "Sesame Street" in April.

Julia, the first Muppet with autism, will debut on “Sesame Street” in April.

(Stacey Gordon, the voice of Julia, has a son with autism.

“It means that our kids are important enough to be seen in society. Having Julia on the show and seeing all of the characters treat her with compassion…it’s huge,” she told “60 Minutes.”

“Had my son’s friends been exposed to his behaviors through something that they had seen on TV before they experienced them in the classroom, they might not have been frightened. They might not have been worried when he cried. They would have known that he plays in a different way and that that’s okay.”

Julia made her first public appearance on "60 Minutes" with reporter Lesley Stahl Sunday night.

Julia made her first public appearance on “60 Minutes” with reporter Lesley Stahl Sunday night.

The episode wraps up with the characters playing tag. Julia gets so excited that she jumps up and down, which Abby describes as “bouncing like a rubber ball. Boing boing boing.”

“And then it turns into a game where they’re all jumping like her. So it was a very easy way to show that with a very slight accommodation they can meet her where she is,” Ferraro said.

“I would love her to be not Julia, the kid on Sesame Street who has autism. I would like her to be just Julia.”