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.


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.



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

Is There Really A Link Between IVF And Autism? You Decide.

By Karen Weintraub
Guest Contributor

At what point does health journalism veer into fear-mongering?

This week, the Journal of the American Medical Association published a study looking at the health of babies born via a fertility treatment designed to give sperm a boost.



As with many studies published in the prestigious journal, the media coverage was extensive, with headlines in Businessweek, Reuters, Newsday, The New Republic, Huffington Post, and many other outlets. Most of the headlines trumpeted the study’s finding that a form of in vitro fertilization increased the risk of autism and intellectual disabilities (defined as having an IQ below 70 and limitations in adaptive behavior).

That is factually accurate. But was it right?

I’ll lay out the details of the study, and let you decide.

Out of 2.5 million children born in Sweden from 1982 to 2007, the study looked at the 30,959 born with the help of fertility treatments.

It found that IVF, in general, didn’t increase the risk of autism any more than conventional birth; but it slightly increased the risk of intellectual disability. But media coverage focused on autism worries, and the one form of six techniques examined that appeared to be riskiest: a procedure in which sperm is surgically removed from the man and then injected into the egg. This is relatively rare (representing only 3 percent of the studied births between 2003 and 2007, according to Businessweek), but is generally done when the man has weak sperm or is unable to ejaculate it, perhaps because of a previous vasectomy.

In babies born of this technique, the risk of developing intellectual disabilities was slightly elevated – 93 children out of 100,000 had low IQ’s compared to the expected 62. Continue reading

Disabled Patients Fight For Care As Institution, Slowly, Shuts Down

In case you missed it (or don’t subscribe to The Wall Street Journal) check out this excellent story about the few remaining residents of the Fernald Developmental Center in Waltham, which is the oldest state-run institution in the nation for men and women with developmental and intellectual disabilities.

There are 13 residents left, The Journal reports, and their families, bucking the national deinstitutionalization trend that began decades ago, want them to stay put and receive the individualized care they’ve come to depend on.  The state says it’s time to go:

Massachusetts wants to move the last residents from Fernald and sell the 186-acre property. But their families want them to stay, saying Fernald’s experienced caregivers and familiar surroundings are irreplaceable. The matter has gone to court.

A Community at a Crossroads

About 30,000 people remain in 160 state-operated facilities in the U.S., including many who face similar dislocations. Like those at Fernald, they tend to be older, with complex physical and psychological needs. Many require one-on-one care.

Families say uprooting people with such limited coping skills is too traumatic. State authorities say smaller settings are better than larger public facilities; they cite thousands of successful transfers.

What is different about Fernald is that its residents have legal rights others don’t. In a class-action suit, they were awarded in 1993 a guaranteed level of care, regardless of cost, to compensate for decades of abuse and neglect.

Those costs, indeed, are high. It costs $10.9 million a year to keep Fernald open for 13 people, state officials said. The per-resident cost at Fernald is about four times the national average of $220,119 spent at other state-supported institutions, according to a 2013 report by the University of Colorado. About a third of the cost to run Fernald pays to run a utility plant built to power buildings that are now mostly unused…

The dispute puts Massachusetts in the uncomfortable position of uprooting some of its weakest residents in a messy court fight.

“It’s a horrible dilemma,” said Michael’s mother, Linda Martin. Her son functions on a level of someone between the ages of two and six. He is capable of hurting someone or himself, without apparent provocation, said Mrs. Martin, who carries M&M candies to placate him during visits.

Kevin Fitzgerald, severely autistic and institutionalized as a child. (George Hicks/WBUR)

Kevin Fitzgerald, severely autistic and institutionalized as a child. (George Hicks/WBUR)

A horrible dilemma is right. Recently, we reported on Kevin Fitzgerald, a severely autistic man institutionalized since childhood who was moved into a state-run group home as a young adult.

Kevin, who was losing his eye sight due to cataracts, but had huge problems finding a surgeon to treat him because of his erratic, sometimes scary public behavior, is one of about 32,000 people with intellectual disabilities (what used to be called mental retardation) eligible for services in Massachusetts, Continue reading

Caring For Kevin: An Autistic Man, An Exceptional Doctor, A Life Renewed

Kevin Fitzgerald, after surgery, his vision restored (George Hicks/WBUR)

Kevin Fitzgerald, after the second of two eye surgeries, with his vision restored (George Hicks/WBUR)

By Rachel Zimmerman

Kevin Fitzgerald is parked in a wheelchair near a set of elevators at Boston Medical Center, tense with fear.

He’s a big guy, nearly six feet and about 280 pounds. But because of his severe autism, Kevin can’t verbalize his thoughts. He can only moan.

Dressed in her scrubs, Dr. Susannah Rowe, Kevin’s eye surgeon, sits on the floor next to him. While waiting for a heavy dose of anti-anxiety meds to calm her patient, Rowe practices what she calls “verbal anesthesia.” “It’s OK to be afraid,” she tells Kevin. “Want to hold my hand?”

Institutionalized since childhood, Kevin, now 56, has been losing his sight for the past two years to the point that doctors said he can see little more than shadows. He’s here at BMC awaiting cataract surgery, a fairly simple procedure that generally takes about 30 minutes in the operating room. But for Kevin, who has long feared doctors and has a history of aggressive, unpredictable behavior — like hitting himself or inadvertently hurting others or running away when he’s in distress — the procedure isn’t simple at all.

Surgeon Susannah Rowe, anesthesiologist Oleg Gusakov, M.D. and nurse anestheticst Dale Putnam, CRNA, prepare Kevin for surgery. (George Hicks/WBUR)

Dr. Susannah Rowe, anesthesiologist Oleg Gusakov and nurse anestheticst Dale Putnam in the pre-op room with Kevin. (George Hicks/ WBUR)

It’s not simple for the doctors, either. They’re practicing a special art: medical care for the disabled and mentally ill. It often breaks the rules of traditional care, loses money for their practices and can even put them at physical risk if a frightened patient spins out of control.

But there’s a huge need for such specialized care. As many as 50 percent of people with intellectual disability (defined as an individual with an IQ of 70 or less and difficulty functioning in daily life, among other criteria) have vision problems, according to state experts. And a far higher proportion of these disabled patients have severe vision problems compared to the general population.

With delayed or limited access to treatment, these men and women can begin to lose their already-tenuous connection with the physical world; and their behavior, driven by fear and the inability to understand why things are growing darker, can deteriorate further toward what looks like aggression. Rowe, the surgeon, says anyone with a disability or severe mental illness whose mood, anxiety or behavior gets worse should immediately have their vision checked.

Join doctors in the operating room for Kevin’s surgery. Warning: It gets graphic.

Kevin’s situation may seem exceptional but he’s not alone. According to the state Department of Developmental Services, there are about 32,000 adults and children with intellectual disability (what used to be called mental retardation) eligible for services in Massachusetts. About 9,000 of these adults live in group homes.

But not everyone with an intellectual or developmental disability is getting the care they need, experts say. Consider:

  • A recent Massachusetts study found that people with autism still face significant barriers in accessing medical care, and it’s worse for patients like Kevin, who can’t fully communicate.
  • A 2009 survey of eye specialists from around the state found that while most providers believe patients with intellectual disabilities require 30-60 minutes longer for a medical appointment, the vast majority of the specialists didn’t allot that extra time.
  • According to a 2004 Public Health Reports article: “Research indicates that most individuals with developmental disabilities do not receive the services that their health conditions require…[and] individuals with mental retardation face more barriers to health care than the general population.

Research has also demonstrated that many primary care providers are unprepared or otherwise reluctant to provide routine or emergency medical and dental care to people with developmental disabilities.”

Andrew Lenhardt, a primary care doctor in Hamilton, Mass., who treats many disabled patients, including Kevin, says: “The level of dignity and respect and basic medical care that’s given to people with disabilities is often meager…These people can’t advocate for themselves, they’re an easy target to be treated inadequately or poorly.”

Continue reading