4/25 - Latest in Autism News

GI problems in autism may originate in genes, study suggests
Gene linked to autism lowers serotonin activity in mice, slows movement in gut

Researchers at Columbia University Medical Center (CUMC) have found evidence in mice that, for some types of autism, gastrointestinal difficulties may originate from the same genetic changes that lead to the behavioral and social characteristics of the condition. The study was published in the Journal of Clinical Investigation.

Children with autism spectrum disorder are four times more likely to suffer from gastrointestinal problems than other children. These GI troubles are often blamed on the tendency of kids with autism to limit their diets to a few favored food items.

"Gastrointestinal issues have been recognized as a common occurrence in people with autism since the condition was first described in the 1940s, but there was no indication that they were directly related," says the study's lead author, Kara Gross Margolis, MD, associate professor of pediatrics at Columbia.

Recent research by Jeremy Veenstra-VanderWeele, MD, the Mortimer D. Sackler, MD Associate Professor of Psychiatry at Columbia, and Randy Blakely, PhD, professor of psychiatry at Vanderbilt University School of Medicine, had linked some cases of autism to genetic mutations that inhibit serotonin activity. Serotonin is a chemical that transmits signals from one neuron to another in the brain. The brain, however, contains only 5 percent of the body's serotonin; most of the rest is at work in the GI system. Genetic mutations that affect serotonin's activity will thus have ramifications in the gut as well as in the brain.

"Because serotonin plays an important role in the gastrointestinal system as well as the brain, we wanted to see if there was a direct relationship between these genes and GI development and function," says Dr. Margolis, who conducted the study with Michael Gershon, MD, professor of pathology & cell biology at Columbia and a leader in the field of neurogastroenterology.

The researchers investigated gastrointestinal development in a mouse model, created by collaborators at Vanderbilt, that carries a mutation found in some patients with autism. The mutation decreases serotonin activity by increasing the activity of the serotonin reuptake transporter (SERT), which pulls serotonin back into the neuron after it is released for neurotransmission.

Previously, the Vanderbilt researchers had shown that mice with the SERT mutation displayed behaviors that are strikingly similar to those seen in children with autism. In particular, the mice vocalized less, engaged in repetitive behaviors, and avoided contact with other mice.

In the new study, Drs. Margolis and Gershon discovered that these mice have fewer neurons than normally found in the gut, a poorly maintained gut lining, and slower movement of gut contents. The changes were present in young mice and persisted through adulthood.

"Basically, the gut goes slower and the mice were constipated, which is a common complaint in kids with autism," Dr. Gershon says.

"Our study is one of the first to suggest that GI and neurological aspects of autism, in some cases, may stem from a shared underlying abnormality," says Dr. Margolis. "This provides scientific credibility to the idea that gastrointestinal problems may be an innate feature of autism, at least for some patients."

The study also found that the gastrointestinal changes in mice caused by the SERT mutation could be prevented if during pregnancy their mothers were given prucalopride, a drug that mimics the ability of serotonin to stimulate nerve cell development. "We see that we can prevent gastrointestinal changes in mice with the SERT mutation, but we still need to learn if we can reverse these changes once they appear," Dr. Margolis says.

Regardless of the root of the GI distress in patients, Dr. Margolis says families and physicians should recognize that gastrointestinal problems are common in children with autism. "The difficulty is that these kids present in a different way. Often, they're not verbal or they have sensory issues so they can't pinpoint where the pain is coming from," she says. "So it's important that when these patients present with distress or behavioral problems, a gastrointestinal source is considered."

Since low serotonin activity caused deficient development of gastrointestinal neurons, slow motility, and inadequate maintenance of the gastrointestinal mucosa, the researchers wanted to determine if high serotonin activity during development would increase generation of nerve cells, speed motility, and enhance mucosal maintenance.

The researchers increased serotonin activity in developing mouse pups by giving their mothers SSRI antidepressants (e.g., Prozac), which raise serotonin levels by inhibiting SERT, or by knocking out the SERT gene (SERTKO).

As expected, the pups had changes to their gastrointestinal systems that were the opposite of those found in the autism model mice. Whereas the autism model mice had too few gastrointestinal neurons and a slow-moving gut, the SSRI and SERTKO pups had too many neurons and a fast-moving gut. And while the intestinal lining of the autism model mice was too thin, the lining in the SSRI and SERTKO mice was too thick.

Only one study has looked at gastrointestinal disorders among children of women who take SSRIs during pregnancy. This study found that such children are 10 times more likely to have a gastrointestinal disorder than children from the general population.

"We're not advising anyone to stop taking SSRIs. Depression is not trivial in pregnancy and there are a lot of things to consider," Dr. Margolis says. "As physicians, we want to make people aware of all the side effects of the drugs they take, so they can make better-informed decisions."

The study is titled, "Serotonin transporter variant drives preventable gastrointestinal abnormalities in development and function." The other contributors are Zishan Li, Korey Stevanovic, Virginia Saurman, Narek Israelyan, Isaac Snyder, and Jeremy Veenstra-VanderWeele (Columbia University Medical Center, New York, NY), George M. Anderson (Yale School of Medicine, New Haven, CT), and Randy D. Blakely (Vanderbilt University School of Medicine, Nashville, TN).

April 25, 2016.  This work was supported by NIH grants NS15547, DK093786, MH096972, the Einhorn Charitable Trust, and the Autism Research Institute.

4/21 - Latest in Autism News

About 50,000 people with autism and their families are being recruited to participate in the largest-ever research study of the disorder in the U.S. The University of Washington and Seattle Children’s expect many local families to sign up.

Autism experts at the University of Washington are bracing for a flood of interest starting Thursday as they help launch the nation’s largest-ever autism research study, which will seek DNA and other information from 50,000 U.S. families.

Nearly 300 Seattle-area families have enrolled already in the pilot stage of the study, dubbed SPARK, which is sponsored by the Simons Foundation Autism Research Initiative, or SFARI, based in New York.

Now, the UW and the Seattle Children’s Autism Center (SCAC) will join with nearly 20 other sites across the country to compile a database of genetic, behavioral and environmental information about people with autism, from toddlers to adults.

“We really want to involve as many families as possible where the child has been diagnosed with autism,” said Raphael Bernier, a UW associate professor of psychiatry and behavioral sciences. “We want to get every child involved.”

The goal of the project is to identify genetic markers for autism, a range of brain-development disorders that affect 1 in every 68 children in the U.S., according to the Centers for Disease Control and Prevention.

Families who agree to participate will provide DNA through saliva samples, which will then be analyzed through whole exome sequencing, a technique to identify genetic markers for known and unknown conditions.

Scientists will screen for markers for autism, which is known to have a strong genetic component, Bernier said. To date, about 50 genes have been identified that almost certainly play a role in autism, and an additional 300 or more may also be involved. Ultimately, as many as 800 to 1,000 genes could be implicated in autism disorders, Bernier said.

By studying the genes, along with associated biological and environmental factors, scientists may be able to learn the causes of the disorder and link them to symptoms of people with autism.

“We’ll invite families to come back in to see how that gene impacts that particular kid’s expression of autism,” said Bernier, who is also clinical director of the Seattle Children’s Autism Center.

For parents like Lynn Vigo, whose 19-year-old daughter, Carolina, was diagnosed with severe autism and intellectual disability at age 2, such a study offers new hope for finding not only potential causes of the disorder but also possible treatments.

“Parents are really eager for this,” said Vigo, 57, a mental-health therapist in the UW autism program. “The more specific we can get about our child’s unique autism profile, the better. This disorder we call autism is not the same for every child. It’s really pretty different.”

In addition, knowing the genetic underpinnings of the disorder could be useful for other family members concerned about future children, she said.

Vigo has received a test kit to collect saliva samples from the entire family. Within six months, she expects to get results and begin conversations about what they mean.

The UW was one of three centers to pilot the SPARK study; the others are the University of North Carolina, Chapel Hill, and the University of Missouri.

Data from the project are expected to fuel many studies about the nature of autism. The effort is funded by SFARI, which has a $60 million budget and supports 175 investigators and projects.

Bernier expects at least 1,000 participants diagnosed with autism, along with their family members, in the early months of the project. Participants will receive a $50 gift card and access to online resources and research news.

Washington State Department of Health officials estimate there are between 8,000 and 12,000 children with some form of autism in the state. Vigo and Bernier both expect many families to express interest.

“There are so many of us,” Vigo said. “Let’s put the volume of the group here together and figure some of this out so we can improve the quality of life for our families.”

April 21, 2016, Seattle Times health reporter


4/12 - Latest in Autism News

Forever Glass, a Program that Allows Adults with Autism to Create Beautiful Glass Bowls, is Launched

Participants in the Work Experience Program Create the Keepsake Bowls from Recycled Bottles

Forever Glass, an innovative work program that allows adults who are on the autism spectrum to experience creating beautiful bowls out of recycled glass, is celebrating its official launch.

The program, which was developed by sisters Cathy and Bernadette, helps to preserve memories by creating lovely glass Keepsake Bowls that are made from glass saved from special events like weddings, sports wins and holidays. The glass is cleaned and crushed and then mixed with a special glass base recipe before it is melted and spun into Signature or Artisan keepsake bowls.

As a spokesperson for Forever Glass noted, Cathy, who has been a glass artist for over 20 years, wanted to create a self sustaining workplace for her autistic son.

"Bernadette, a retired veteran is devoted to her nephew and others like him, who need an accepting and welcoming workplace environment to learn the social skills required for competitive employment."

People who would like to order a keepsake bowl from Forever Glass may send in their bottles to be transformed into handmade keepsakes. The bowls, which are around 5 inches high and between eight to 10 inches in diameter, can also be personalized with up to 20 characters to commemorate the event. Because they are handmade, no two bowls are ever exactly the same.

To support the Forever Glass work program, Cathy and Bernadette recently launched a Kickstarter campaign. They hope to raise $10,000 through crowdfunding for needed equipment.

"Our engineers have designed and built our first production equipment to our specifications," Cathy and Bernadette said. "As our campaign takes off, we will need to build additional equipment to keep up with production demands."

To learn more about Forever Glass or to make a donation to the fundraiser on Kickstarter, please visit https://goo.gl/ktuhJZ.

About Forever Glass:

Spinning Glass is an amazing and beautiful sight to see; when a person pours molten glass into a spinning mold the centrifugal force sends it careening up the sides of the mold into a handcrafted design. Please support Forever Glasses's efforts to provide a welcoming and accepting working environment for individuals on the autism spectrum, where each team member is encouraged to follow their own passion. People are empowering these unique artisans to use their talents in the creation of their one of a kind Artisan Keepsake Bowl.



4/2 - Latest in Autism News

Autism rate up 12% in New Jersey; experts cite better detection

One in 41 children is diagnosed with autism in New Jersey, a 12 percent increase over two years for a state that already had the highest rate in the nation, federal health officials announced Thursday.

But the data, comparing rates from 2010 to 2012, don’t appear to show an uptick in the incidence of the disorder, a range of experts said. Instead, they maintained, the state is doing a better job of detecting it and getting services to children who need help.

Still, the numbers released by the federal Centers for Disease Control and Prevention are daunting because they reflect a continuing trend of increasing numbers of families affected by autism spectrum disorder.

“We’re seeing a lot more children on the higher functioning end of the spectrum diagnosed,” said Dr. Randye Huron, director of the Institute for Child Development at the Joseph M. Sanzari Children’s Hospital at Hackensack University Medical Center.

The cases, which would have gone undiagnosed in prior years, result in early intervention such as behavioral therapy, which yields significant results, she said.

“I have seen amazing progress in children diagnosed early,” Huron said.

New Jersey’s rate is higher than many states because there is more aggressive tracking, which includes school records as well as medical records, said Walter Zahorodny, an autism expert at Rutgers University — New Jersey School of Medicine in Newark and an investigator in the research.

Overall, 32,581 children were identified with the disorder in four counties selected for monitoring in New Jersey by the CDC, according to data released by the federal agency.

The data come from the CDC’s Autism and Developmental Disabilities Monitoring Network, a tracking system that provides estimates of the prevalence and characteristics of autism spectrum disorder among 8-year-old children in Arizona, Arkansas, Colorado, Georgia, Maryland, Missouri, New Jersey, North Carolina, South Carolina, Utah and Wisconsin.

Rates varied widely throughout the sites — from 10.8 per 1,000 children in both Colorado and Wisconsin to 24.6 per 1,000 children in New Jersey or 1 in 41. It had been 1 in 45. New Jersey’s increase was second only to Wisconsin, which reported a 16 percent increase from 2010 to 2012, according to CDC data. And boys are diagnosed at much higher rates than girls — 23.6 per 1,000 compared with 5.3 per 1,000, according to the CDC.

Not much difference

Michael Rosanoff, an epidemiologist with Autism Speaks, a national advocacy organization, agrees that there’s not as much disparity from region to region despite what numbers say.

“There’s probably not a true difference in prevalence in any of the 11 states regardless of the report,” Rosanoff said. “New Jersey might be doing a better job of identifying kids with autism so the true prevalence may be closer to the New Jersey number.” One in 68 — the national rate which is the same as two years ago — may be an underestimate, he said.

“Even if it’s 1 in 68 kids, that’s more than 1 million children in the country” with the disorder, Rosanoff said.

Federal health experts say it’s too soon to know whether the prevalence in the United States might be starting to stabilize. “CDC will continue tracking autism spectrum disorder prevalence to better understand changes over time,” officials said in announcing the data Thursday.

Zahorodny says he interprets the data to mean the number of reported cases is not “plateauing” after dramatic increases in prior years. Over the last decade, autism rates have risen 110 percent.

“I am certain autism is not the same or reversing in prevalence,” he said.

“Most of the states are underestimating,” Zahorodny said. “They are not as robust as they could be. Half of the states are not reviewing school-based information,” he said.

Autism is a brain disorder that varies in degree but affects verbal and non-verbal communication and social interaction, and may trigger repetitive behaviors. It can cause intellectual disability, difficulties in motor coordination and sleep and gastrointestinal disturbances. But some people with the disorder may excel in math, music or art.

Improvements in detection are vital, some advocates said, but more needs to be done to address the issues of those diagnosed with the disorder.

Suzanne Buchanan, executive director of Autism New Jersey, called the data “an urgent call to action to establish and expand more high-quality educational programs and treatment services.

“We are hearing from more and more parents of children with disabling social, communication and behavioral challenges,” Buchanan said. “These challenges range from negatively impacting everyday interactions to a severely limited ability to do the things children their age do so easily.”

N.J. autism registry

New Jersey is considered to have one of the best systems in the nation for identifying, diagnosing and documenting children with autism spectrum disorders. Governor Christie’s proposed budget provides $164 million for the Department of Health’s Early Intervention System, which provides a variety of services for children from birth to age 3: identification of the disorder and referral for services.

Additionally, New Jersey is one of only eight states with an autism registry that requires reporting by neurologists, pediatricians, nurses and other autism providers so children can be referred for resources and services.

The CDC report shows that, overall, fewer than half the children identified with autism had received comprehensive developmental evaluations by age 3. This proved true despite the fact that the vast majority had developmental concerns noted in their medical or educational records before age 3. The disorder can be reliably diagnosed by age 2.

The new report also found that black and Hispanic children continue to receive developmental evaluations later than white children and continue to be diagnosed with autism at lower rates.