autism

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Tackling Autism In Babies? Small Study An ‘Absolute Miracle,’ Says Mom

Megan says the experimental trial she participated in with her daughter Isabel was "an absolute miracle," transforming the child from a troubled baby who looked headed for autism to a typical, happy preschooler.

Megan says the experimental trial she participated in with her daughter Isabel was “an absolute miracle,” transforming the child from a troubled baby who looked headed for autism to a typical, happy preschooler.

Research out this week suggests that it’s never too early to begin therapy to treat some of the defining symptoms of autism. Karen Weintraub reports on the promising new findings in USA Today under the headline, “Study: Autism Signs In Babies Can Be Erased.”

Karen expands on her report here:

In a small pilot study — the first to look at starting therapy in babies this young — researchers at the University of California Davis’ MIND Institute, began treating 7 babies who showed symptoms likely to turn into autism later. By their third birthdays, five of the children no longer exhibited any symptoms of autism, and a sixth was diagnosed with mild autism.

Because the study was so small, and autism cannot reliably be diagnosed in infancy, the researchers stopped short of calling the treatment a breakthrough. But they said they will be following up with a larger study, which they hoped would confirm the results.

One mother involved in the trial described the treatment as “an absolute miracle” for her daughter, Isabel. The mother, Megan, asked not to be fully identified, but talked openly about the trial and its benefits for her family.

At nine months old, Isabel wouldn’t turn her head when someone walked into a room calling her name. She never babbled, Megan said. She was physically delayed in fine and gross motor skills, and didn’t seem to know how to play with toys. All those are signs commonly seen in children who go on to be diagnosed with autism.

Megan heard about the trial through her pediatrician and the family – including Isabel’s dad and her older brother – moved from the Seattle area to Sacramento, so they could participate in the study.

In 12 weekly sessions, lead researcher Sally Rogers coached Megan and her husband John as they played with baby Isabel. Where most children will smile or giggle when happy, Isabel’s facial expressions didn’t change much; where others might cry if scared by a loud sound, Isabel rarely reacted to anything in her environment. But Rogers showed them that Isabel might glance over quickly when she was interested or look at her hands when something was too loud or overwhelming – cues that Megan and John could take to do more or less of whatever they were doing.

Once they learned to “speak” Isabel’s language, Megan said she and John were able to react to her and engage with their baby for the first time. Eventually, through this interaction, Isabel learned that she could communicate – and have fun doing it. That primed her to learn even more, Megan said.

Megan said she and her husband would never have figured out what to do without the coaching. Continue reading

Governor Reviewing Mass. Bill That Would Expand Autism Supports

Gov. Deval Patrick, in an April 29 file photo (Josh Reynolds/AP)

Gov. Deval Patrick, in an April 29 file photo (Josh Reynolds/AP)

Many parents of children on the autism spectrum are celebrating passage of a bill that is among dozens already on Gov. Deval Patrick’s desk.

The bill would create a tax-free savings account for autism and disability care; would require Medicaid coverage for autism behavioral treatment; and would give thousands of residents with autism access to state disability services. Currently only those whose IQ is under 70 qualify.

Barbara L’Italien, with the advocacy group ARC of Massachusetts, has seen autism rates skyrocket since her son was diagnosed in 1990.

“It is a public health crisis,” she says. “It is something we need to wrap our arms around and be proactive about, and I think this legislation really attempts to do that.”

The costs of expanding Medicaid and disability services is not clear.

A spokeswoman says Patrick is reviewing the bill.

OBs: No Link Between Labor Induction And Autism

The nation’s most influential group of obstetrician-gynecologists concludes that there’s no connection between labor induction and autism. Earlier reports suggested that there’s was a possible link, but even that research, published in JAMA Pediatrics, was complicated and somewhat murky.

(popularpatty/flickr)

(popularpatty/flickr)

Here’s ACOG’s latest guidance on the matter, from the news release:

Current evidence does not support a conclusion that labor induction or augmentation causes autism spectrum disorder (ASD) in newborns, according to a new Committee Opinion released by the American College of Obstetricians and Gynecologists (the College).

While some studies have suggested an association between ASD and the use of oxytocin for labor induction or augmentation, available evidence is inconsistent and does not demonstrate causation, according to the opinion, which also found important limitations in study design and conflicting findings in existing research.

Given the potential consequences of limiting labor induction and augmentation, the College’s Committee on Obstetric Practice recommends against changes to existing guidance regarding counseling and indications for, and methods of, labor induction and augmentation.

“In obstetric practice, labor induction and augmentation play an essential role in protecting the health of some mothers and in promoting safe delivery of many babies,” said Jeffrey L. Ecker, MD. Dr. Ecker is chair of the Committee on Obstetric Practice, which developed the new Committee Opinion. “When compared with these benefits, the research we reviewed in assembling this Committee Opinion, relative to the utilization of oxytocin, had clear limitations. Because of this, these studies should not impact how obstetricians already safely and effectively use labor induction and augmentation when caring for their patients.” Continue reading

Autism: Awareness Helps, But What We Really Need Is Knowledge

The author's 15-year-old son, Sam, after an orchestra concert.

The author’s 15-year-old son, Sam, after an orchestra concert. (Courtesy)

By Ilyse Levine-Kanji
Guest contributor 

April is autism awareness month. Awareness is great. But what really frustrates me and other parents of children with autism isn’t a lack of awareness but rather how little is actually known about the disorder.

For instance, there is no explanation about why the number of autistic children is exploding. Less than a month ago, the Centers for Disease Control released updated data about the public health epidemic of autism. The CDC found that for children born in 2002, the prevalence of autism is 1 in 68, and 1 in 42 boys. This new prevalence finding is roughly 30% higher than just six years ago and roughly 120% higher than the CDC’s findings in 2002 (1 in 150).

I’m incredulous that people still argue that the increase in the prevalence of autism is only due to better diagnosis.  Do we really believe that doctors and teachers 20 years ago simply didn’t notice the devastating symptoms presented by children affected by autism?

Equally frustrating is the lack of knowledge about the capabilities and inner lives of people with autism. When my son Sam was diagnosed at 26 months in 2000, we were told that a primary hallmark of autism is social disinterest and the desire to be alone. Now that Sam is 15, we realize that couldn’t be further from the truth.

Within the first minute of meeting Sam, you know that he is different. He likes to walk up to people he doesn’t know and rapidly blurt out: “What-is-your-name-and-when-is-your-birthday?” He can say this in an unexpectedly loud voice, with his eyes averted and his back or side facing the person he’s addressing, and maybe standing too close to — or too far away from — his intended “conversation partner.” Once the person answers, Sam often simply moves away, without acknowledging the response or following up in any way, leaving the person confused about the unusual interaction.

Connection

While Sam’s social interactions are often quirky and unexpected, Sam has a deep desire to connect with others. He is always willing to go to the grocery store or run errands with me, primarily because he’s excited to see who we will run into. People joke that Sam acts like “the mayor,” greeting everyone he sees by name and with an extremely enthusiastic fist bump. (Again, we were told that people with autism have trouble recognizing others, which also hasn’t been true for Sam.)

What is accurate is that Sam has tremendous difficulty communicating. He speaks in full sentences, but it is often a struggle for him to communicate his thoughts. One way that Sam compensates for this difficulty is that he painstakingly plans out what he is going to say to someone before he sees him or her.

Sam has many rehearsed scripts in his head that he pulls out depending on the person. Continue reading

CDC: Autism Rate Up To 1 in 68 Kids, But Still No Why

A new CDC analysis of autism prevalence shows a nearly 30 percent jump in cases between 2008 and 2010: that means 1 out of every 68 eight-year-olds in the U.S. is diagnosed with the disorder.

But health officials still don’t agree on what’s driving the increase. Debate continues to rage over whether the increase in cases is due to changing definitions and greater awareness of autism spectrum disorders, or if it’s due to some environmental or other factor.

Karen Weintraub reports for USA Today:

…virtually every grade in every elementary school has at least one child with autism – a seemingly astonishing rise for a condition that was nearly unheard of a generation ago.

What’s still unknown is the driver of that increase. Many experts believe the rise is largely due to better awareness and diagnosis rather than a true increase in the number of children with the condition.

(Jesse Costa/WBUR)

(Jesse Costa/WBUR)

“We don’t know the extent those factors explain in terms of the increase, but we clearly know they do play a role,” said Coleen Boyle, director of the National Center on Birth Defects and Developmental Disabilities at the CDC. “Our system tells us what’s going on. It (only) gives us clues as to the why.”

The aging of parents is also known to be a factor; the chances of autism increase with the age of parents at conception.

“But that’s not the whole story is it?” said Robert Ring, chief science officer for Autism Speaks, a research and advocacy group. Whether something in the environment could be causing the uptick remains “the million-dollar question,” Ring said.

Despite their concern, experts said they were not surprised by the increase, because other data had suggested the numbers would continue to climb. In New Jersey, for instance, autism rates were 50% higher than in the rest of the nation in 2000, and they remained that much higher in 2010 – suggesting the national rates will continue to rise to catch up, said Walter Zahorodny, a psychologist who directs the New Jersey Autism Study. “To me it seems like autism prevalence can only get higher,” Continue reading

Autism Study Blames Chemical Switch Not ‘Flipped’ At Birth

By Karen Weintraub
Guest contributor

Are the seeds of autism laid at birth?

A new study published today in Science suggests that autism may result when a chemical switch in the brain doesn’t get flipped during delivery.

The brain chemical GABA excites brain activity in the fetus and then tamps down electrical signals in the more mature brain, with the change happening at or around birth. The new study by a group of French researchers suggests that the failure of GABA to make that switch can make the brain more vulnerable to autism.

“The bottom line is at least in rodents – and there is some reason to believe this might apply in humans – there are a couple of events which must take place very early on,” said lead researcher Yehezkel Ben-Ari, of the French Institut National de la Santé et de la Recherche Médicale, in Marseille. “If they don’t take place, autism evolves, and if you reduce somehow these events… the mice are much less autistic – implying that an early treatment might be very useful.”

(Jesse Costa/WBUR)

(Jesse Costa/WBUR)

Ben-Ari and his co-authors also think they have a solution: A drug they have patented that they believe can restore GABA’s functioning.

Their study was in rats and mice with a rodent-form of autism. The mice had the same genetic fluke that causes the disease Fragile X in people; the rats were exposed to valproic acid, an epilepsy drug known to increase the risk of autism when given to pregnant mothers.

Both the rats and mice showed fewer autistic behaviors when their pregnant mothers were given the drug bumetanide, a generic diuretic used to treat fluid retention that can come with high blood pressure and edema.

“Brain activity is like a scale between excitation and inhibition –there has to be a balance,” said Andrew Zimmerman, a pediatric neurologist at the University of Massachusetts Medical School in Worcester, who was not involved in the new study but wrote a commentary about it in Science. “We’ve known this switch takes place but we never were able to sense before the mechanism by which this happens.”

It’s too soon to tell whether bumetanide will be able to restore that balance to the brains of children with autism, but the researchers have started testing it in French and Spanish children with autism, ages 2-18, with results expected by the end of the year.

Ben-Ari said he doesn’t expect the drug to be a cure-all; behavioral therapy and other pharmaceuticals will likely still be needed to treat autism symptoms, because autism is so complex.

And he doesn’t want to give the drug before birth, as he did with the rodents, because it’s impossible to identify which newborns will go on to develop autism, and unethical to study the drug on healthy children.

But he does think that the variant of bumetanide he’s developed promises to help people across the autism spectrum, just as it helped rodents whose autism was caused by different triggers.

It’s that broad reach that most impressed doctors who work with kids on the autism spectrum.

“My excitement is this could be a common pathway,” said Dr. Gary Goldstein, president & CEO of the Kennedy Krieger Institute, a clinical and research center based in Baltimore. “We don’t have any medications for autism – nothing that treats the core symptoms.”

No single study can be considered definitive science, though, and this study, like all others, had its flaws. The French researchers looked only at a few autistic behaviors; it’s possible the mice and rats still retained some essential characteristics of autism. And of course, a mouse with induced autism is very different from a person with the condition, who may have difficulty reading social cues, communicating and avoiding repetitive behaviors.

“This is really interesting and important from a basic neuroscience perspective,” said neuroscientist Jeremy Veenstra-VanderWeele, an associate professor and autism expert at Vanderbilt University in Nashville, Tenn. “It remains to be seen whether this applies to a large group of kids with autism or whether this is directly impacting something that matters for the cause of autism.”

The research also needs to be repeated by scientists without a financial stake in the drug. Continue reading

The Genetics Of Autism: Inside The Brains Of The Supple Boys

Don’t miss Lynn Jolicoeur’s excellent piece on WBUR this morning about the genetics of autism and the two young Natick boys, Tommy and Stuart Supple, whose gene mutations are the focus of research by Stanford neuroscientist Dr. Thomas Sudhof.

(Jesse Costa/WBUR)

(Jesse Costa/WBUR)

From Lynn’s story:

…The Stanford University neuroscientist — who this year shared the Nobel Prize in medicine for his decades of study into how brain cells communicate — has been studying Tommy and Stuart’s genes, specifically an alteration in one gene, for five years. The Supples hosted Sudhof Wednesday night at a Boston fundraiser in support of his research into the functioning of brain synapses in autism…

According to the Supples, Sudhof’s work is helping conquer the “defeatism” surrounding the neurocognitive disorder.

“He doesn’t think this is unknowable at all. He thinks that it’s very knowable,” Kate Supple said. “We all put so much time and effort into dealing with the symptoms of autism. But you also have to look to deal with the underlying disease.”

For many parents of children with autism, the disorder is a mystery. They have no idea what caused it and focus on therapies to help address the symptoms. But after the blow of both boys being diagnosed before their 2nd birthdays, the Supples sought out private genetic testing without the encouragement of their doctors. Continue reading

Is The Autism ‘Epidemic’ Over?

By Karen Weintraub
Guest Contributor

It’s common knowledge that we’re in the midst of an autism epidemic, right?

Well, maybe not. Boston University professor Hershel Jick published a paper today in the BMJ suggesting that there was an autism epidemic in the 1990s, but it may be over.

He and his colleagues used what he says is the only database in the world with reliable, consistent data over the last 23 years – from the United Kingdom. And Jick says the trend is clear. Autism increased fivefold between 1990 and 2000, but has held steady since 2004, at least in the U.K.

What might cause such a precipitous rise and then a flat line? “It’s a complete mystery,” says Jick, who has been studying the epidemiology of disease since the mid-1960s and has never seen a similar trend.

“You tell me what there could be out there that increased the risk dramatically for 10 years and then stopped? There has to be something out there,” he says. But what it is? “I haven’t a clue.”

(Autism Speaks)

(Autism Speaks)

One of the biggest debates in autism in recent years has been genes versus environment. People who develop autism need a genetic vulnerability to the condition, but if it’s truly rising, there must be an environmental trigger, too, because genes can’t change quickly. Continue reading

Autistic Kids Can Outgrow Critical Sensory Disconnect, Study Finds

By Karen Weintraub
Guest Contributor

For many people, the “read-my-lips” phenomenon happens almost unconsciously: in a crowded or noisy room, most of us can hear better by watching the person’s lips form the sounds.

That’s not true for many people with autism. They have long reported being unable to pay attention to words and visuals at the same time — which may explain why some on the spectrum avoid looking others in the eye. They have to limit their visual information so they can hear what the person is saying.

In the last few years, researchers have finally begun to take these reports seriously and to investigate them.

In a paper out this week in the journal Cerebral Cortex,  researchers at Albert Einstein College of Medicine in the Bronx showed that children with autism struggle to integrate information from multiple senses. High functioning children with autism, ages 5-12, didn’t get the benefit most people do from watching a person’s lips moving while speaking over background noise, according to research led by professor of pediatrics John Foxe. Continue reading

Autism As An Autoimmune Problem: Will There Soon Be A Test?

By Karen Weintraub
Guest contributor

Autoimmune problems that strike during pregnancy may be behind more than 20 percent of autism cases, a new study suggests.

Normally during pregnancy, immune proteins from the mother cross the placental barrier and protect the child from foreign invaders such as bacteria and viruses. But in a sizable number of mothers with children on the autism spectrum, these immune proteins essentially attack the child’s brain tissue instead, according to a new study from the University of California, Davis’ MIND Institute.

pumicehead/flickr

pumicehead/flickr

This autoimmune attack causes changes in the baby’s brain that lead to symptoms of autism, such as repetitive behaviors and a limited ability to communicate, a second study in monkeys suggests. Both studies were published Tuesday in the journal Translational Psychiatry.

It’s not clear why the mothers have these protein antibodies, or how long they’ve had them, said Judy Van de Water, a professor of internal medicine at UC Davis, who helped lead both studies. In autoimmune diseases, antibodies turn against the body itself – or in this case, the body growing inside the mother’s belly. Researchers believe they’ve identified a subset of autism – perhaps accounting for as many as 23 percent of people on the spectrum – that they’re calling maternal antibody-related (MAR) autism.

The implication of these findings could be significant.
Continue reading