Tag Archives: autism

Arts & Entertainment, Film & TV

An Autistic View of a Neurotypical World, on POV

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Recently Seattle Children’s Hospital pulled a bus advertisement with text that read, simply, “Let’s wipe out cancer, diabetes and autism in his lifetime,” the type set next to a smiling kid. Most people may not have given it a second thought. But they would likely be neurotypical, and wouldn’t have to. Others are more sensitive to their kind of brain being “wiped out.”

The Washington State chapter of the Autistic Self Advocacy Network  was having none of it. Hyperbolically, one member said the ad’s rhetoric “functions as a very real form of hate speech,” though this is hard to credit to Children’s. Anyway, the ad was scrapped.

Again and again, problems with autism, or the autistic spectrum, come down to our lack of understanding still of just what we’re dealing with — what about autism do we hope to cure? ASAN thinks of autistic people as differently-abled; researchers see profound sub-disorders that, yes, might have cures, or at least might be prevented.

The spectrum is usually discussed in terms of behaviors: at one end, a child might be self-harming, incontinent, mostly non-communicative but for screaming, with an IQ below 70. At the other, an unconventional introvert with specific interests who has no great desire for a cure, or even therapy. Some autistic people are picky eaters because they can’t tolerate certain foods; others don’t like to get foods mixed up on the plate. Some flinch at being touched because they are hypersensitive, some respond to bear hugs.

But all these behaviors are spurred by different things, as researchers are learning. Some have to do with severe neurophysiological damage, and some deficits which appear profound are developmental, and can be remediated.

Neurotypical, the POV documentary on PBS tonight (July 29, 10 p.m. — or stream it online through August 28), visits with autistic people of all ages, at various places on the spectrum (but mostly the higher-functioning), to get their thoughts on what’s normal, and whether they’d like to be. Filmed mostly in North Carolina and Virginia, the documentary isn’t just about autism, it’s about the challenge being particularly, ineluctably human in a tide of normalcy that starts at birth.

Andrew O’Hehir’s piece in Salon captures the exact sort of interrogation people go through when they bump up against mental differences: Am I like that? How much? How am I different? How much? That measuring stick is a survival skill. For the higher-functioning it’s a tool for gauging fitness as well; they can adapt, form strategies, adopt neurotypical goals like couplehood, a car, a nice house. But survival, first, because autistic children often don’t have an innate gift for self-preservation. 

Autistic people will tend to stand out in a crowd, whether the crowd is tolerant and accepting or not. That likely won’t bother the autistic child at first, they won’t notice the cues, and everyone at first thinks their world is a natural one — things have always been that way. But success in life is in the main a social enterprise, unless you are a hermit; the herd protects, but autistic kids will literally wander off on their own. They may also get beaten up a lot, for not recognizing or respecting cues to social hierarchy.

That’s why, in later years, they may develop a knee-jerk reaction as they read an ad on the side of a bus during a day of doubled effort, employing mentally laborious strategies to fill in for unconscious, neurotypical behaviors. The best they can do is have someone not notice, have a social interaction not seem awkward, but normal — and yet think of all the things they’ve learned, the million waggle-dances neurotypical people are blinded to by custom. With a flurry of mental prosthetics, the autistic person keeps pace, their achievement unremarked upon unless they remark upon it.

“Autism, what a scourge,” the ad suggests.

It is, it is. But humanity is what happens to us.

Education, News

Autism Education Basics, According to Temple Grandin

Dr. Temple Grandin (Photo: Rosalie Winard)

Move over, neurotypicals, Dr. Temple Grandin has some advice on the education of children with autism. If you have any exposure at all to autism literature, you’ll have heard of Grandin. Or, for that matter, if you have done any reading in the humane transportation and handling of animals on their way to be slaughtered.

That means you’re as likely to read this Grandin sentence: “Researchers have learned that people with autism have a decreased metabolism in the area in the frontal cortex that connects the brain’s emotional centers with higher thinking (the anterior cingulate),” as this one: “Cows housed in freestall (cubicle) barns had an average of 24.6% of clinically lame cows.”

Deep dives into topics of fascinating interest is a hallmark of autism, and in her education op-ed, Grandin emphasizes that this is not a trait worth fighting, so much as exploiting:

There needs to be more emphasis on building up and expanding the skills a child is good at. Too often people get locked into a label such as dyslexia, ADHD, or autism, and they cannot see beyond the label. Kids that get a label often have uneven skills. They may be talented in one area and have a real deficiency in another.

In my case, I was really good at art, but doing algebra made no sense. It is important to work on areas where a child is weak, but an emphasis on deficits should not get to the point where building the area of strength gets neglected.

Interestingly, that’s similar to what  Dr. Felice Orlich, program director at Seattle Children’s Autism Center, said in this discussion of girls with autism. With someone with hyperfocus, the naive response might be to try to break that obsessive bond. Said Orlich:

 You might want to push against their hyper-focusing, but that would not be a good choice. You need to join it and use it, and then expand from there. With a typical kid, you shift their attention. With autism, you say, I’m going to step into that and leverage that interest. It’s more of an inside-out approach.

“Inside-out”? Grandin, a visual thinker, gives an example of this kind of thing: ” If the child only draws pictures of NASCAR race cars, a teacher could start expanding the fixation by having him draw an Indianapolis-type car or draw sports cars that regular people can buy at car dealerships. The next step of expansion is to draw pictures of places where race tracks are located.” (She even suggests race-car math, and race-car literature.)

If children are gifted in a particular area, Grandin cautions against the temptation to “hold them back,” so that they stay with the rest of the class. Boredom will create behavior problems. Instead, it’s better to let the student work at his or her own pace, she says, or have them tutor others, which can help develop social skills. (Elsewhere, Grandin mentions that many people with autism approach social situations as a sort of problem to be solved; tutoring works with that mindset.)

Another key element–that Grandin deals with less explicitly–is the influence that a particular teacher can have, if a child with autism has bonded with him or her. Grandin, who as a little girl loved drawing the heads of horses, mentions her mother “rewarded” her when she drew other things by framing them. Because children with autism are likely to bond closely with fewer people than neurotypical children (assuming these really exist), there’s a greater intensity when they do and, in the case of a teacher they like, a greater incentive to perform well.

Many parents will already know what a difference a single teacher can make, especially when it comes to coaxing children out of comfort zones. It’s something to think about in a school system where teachers are considered fungible cogs. That’s not how a child with autism sees things.

Health, News, Science

Gene Sequencing Starts to Illuminate Autism’s Spectrum

O'Roak on an escape from the lab

“Autism is not really one thing,” explained geneticist Brian O’Roak, in describing why, despite evidence of a genetic basis for autism, there’s yet no “autism gene” fingered as the culprit. O’Roak is a postdoctoral fellow with the Eichler and Shendure labs at the University of Washington, and his research involves a good deal of high-tech detective work.

His latest paper, reporting new findings from exome sequencing, was published in the May 2011 issue of Nature Genetics. They were testing the hypothesis that sporadic, protein-altering mutations were linked to sporadic cases of autism, and the initial results (from a small sample) are promising–they may have found a good way to begin to map out a spectrum of genes involved in producing the autism spectrum.

O’Roak and I were sitting on the patio of the Vista Café, on UW campus, at the UW’s $150 million genomic sciences headquarters, the William H. Foege Building. Everything is new and gleaming, and even the café furniture boasts shiny metal finishes that give you the impression they’re suitable for al fresco lab work.

O’Roak is soft-spoken and mutton-chop-sideburned, and unfailingly courteous. Before we begin the interview, he cautions me to remember the deep, personal impacts of autism for many, and not mislead with a headline that promises a cure within the year. (As it happens, I’m aware of the first part, having an older brother who is autistic.)

The results of his latest work, while giving his team the impression they’re on the right track, are still the results of a pilot study. They’re in the midst of a larger effort to confirm their initial findings.

Technological advances in gene sequencing are both heartening–“For about a year now, this technology has been available where you can actually look at the entire genome through the exome, and do it in an unbiased way”–and humbling: The joint forces of genetic heterogeneity and phenotypic heterogeneity create universes of possible outcomes in any given individual. That is, there are genes, and then there’s what the genes do, and their interrelations are very, very complicated. At the moment, it’s estimated that, of the genetic factors that cause autism, some 70 percent of those remain unknown.

To tease apart some of those interactions, O’Roak, et al, turned to the Simons Simplex Collection for help. Sequencing just the exome–the protein-coding part of the genome–made that part of the task easier. “Jay Shendure, who’s the co-senior author, his lab developed one of the approaches to doing exome sequencing, basically about a year before I got here,” said O’Roak. But the researchers still needed a way to better sift mutations that might be causative for autism from mutations that aren’t. The hunch was that sporadic cases of autism could be the key, and, thanks to the Simons Simplex Collection, that key was now available:

For about three years now they have been collecting [genetic samples from] families throughout the U.S. They have twelve different sites. Their whole mission has been to develop this public repository where any researcher can apply and get samples; but what they’re doing that’s different is getting these simplex families (or single affected families, or sporadic families, as we call them in the paper).

O’Roak’s study took “20 trios–so that’s father, mother, child–where the affected individual looked like the only person affected in their family. We only really expected, based on what we knew about mutation rates, about one new mutation per individual. So we could quickly get down to only a handful of variants to sift through, as opposed to the hundreds of variants you might find in any family.”

The de novo mutations they uncovered begin to give a better picture of what’s involved in autism. Mutation at GRIN2B suggested impairment of glutamatergic neurotransmission (glutamate is extremely important for learning); a mutation at SCN1A brought in a gene previously associated with epilepsy; disturbance to LAMC3 would affect limbic and cortical development; mutations at FOXP1 often results in language difficulties.

Looking at the data, O’Roak was struck by the rareness of the mutation sites (of the 21 mutations found, eleven were protein-altering, and four of the mutations, at FOXP1, GRIN2B, SCN1A and LAMC3 were found in severely affected individuals).

It meant they could be on to something–that they had found a way to work backwards from autism’s expression to specific genetic points of interest. If the next, larger study bears this first look out, it’s a step toward a future in which gene therapy could target these sites. But even earlier, this kind of information could impact intervention techniques, as we learn precisely what areas have been affected, and in what way.

Health, News

What’s the “Philosophy” Behind Babies Coughing to Death?

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Graph: Washington Department of Health

Recently the Center for Disease Control released a vaccination coverage study with good news and bad news. The good news was that the vaccination rate for kindergarteners nationally was over 90 percent. The bad news is that Washington State had the highest percentage of children excused by parents, 6.2 percent, or 5,015 kid-sized disease vectors.

WebMD reports the the “vast majority” of Washington parents who excused their kindergarteners from vaccinations did so on philosophical grounds. The site quotes Michele Roberts of the Washington State Department of Health: “Chickenpox outbreaks are a continual problem in our state and last year two infants died of pertussis [whooping cough]. In these cases there was not enough community protection to protect these infants.”

In Washington, the department of health notes in a pertussis fact sheet, “The rate of disease in infants under one year of age, 27.1 per 100,000, remains higher than rates in all other age groups.” As of last year, Washington began flirting with the epidemic threshold for whooping cough.

As much as I’m drawn to emphasize what an act of violence it is to use language to describe this virulent combination of know-nothingness and self-centeredness as a “philosophy,” what really needs to be underlined here is the suffering and deaths of children.

The CDC doesn’t track the hours parents listen to their infant cough itself into pneumonia and brain damage, but surely that needs to be weighed in the balance with whatever “philosophy” promotes bringing back the host of scourges vaccinations protect us from. (It’s probably not coincidental that Washington’s rate of unvaccinated kindergarteners doubled during the years of vaccinations-cause-autism misinformation.)

As it happens, this July a new law will require opting-out parents to supply a note from a licensed health care provider, as evidence that despite having heard the benefits and risks of vaccination, they still prefer to put the lives of their children and others at risk.

Health, News, Science

The Overlooked Autism of Girls, and What Comes After

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From the Autism Speaks website

Sallie Tisdale has an article in Harper’s (subscribers only) this month about her autistic daughter. There’s an element of forestalled explanation to it; yes, she said “daughter.”

My daughter, Annie, still lives with us. She is twenty-six now and at the moment is sitting on the porch, looking out at the street. Soon she will come in and pace for a while, her head down. Later she will read the first few pages of a book—the same book, the same pages, that she read last week and the week before, and will read again tomorrow.

“Autistic son” delivers 175,000 results on Google. “Autistic daughter,” just 31,000. People are not sure why more boys than girls are found to have autism. Epidemiologically, the ratio is supposed to be about 3.6 boys to one girl.

It’s known that girls can learn to mask some of the effects of autism more easily than boys, so it’s possible that they are under-diagnosed in general. Studies show that hallmarks like “language deficits, tantrums, and aggression are all less common in girls than boys in the general population.” A British researcher raises the specter of a shadow population of “shy” girls who like to keep lists and count calories (even to anorexia).

Tisdale’s story is a primer on autism’s variability, and its effects on everyone who struggles with it, including caregivers. Tisdale recounts the lifelong challenge of it: the official optimism with which her daughter was handed off as she finished school, the time her daughter started hallucinating and had to be given antipsychotic medication. Writes Tisdale:

Long-term studies of people with autism are not reassuring. Autistic adults generally read poorly, have few math skills. Very few go to college, are employed, or lead independent lives. The majority say they have no friends.

This is not news to Seattle Children’s Autism Center. Tucked away behind a Chase bank at the back of a parking lot off 25th Avenue NE, the Center is visibly straining with the demand for services beyond the age of early intervention (a focus of the University of Washington’s Autism Center).

“Since we opened in August, we’ve seen over 1,000 different patients,” says Jim Meyer, Director of Psycho-Social Services. In late February, I sat down for interview with him and Dr. Felice Orlich, Program Director, to talk a little about girls and autism, and about how caring for autism is, belatedly, moving beyond grade-school years.

“We have 26 different providers now. We have developmental pediatricians, neurologists, psychologists, psychiatrists, speech/language pathologists, behavioral therapists, nurse practitioners,” continues Meyer. He’s a large, bluff man and you get the feeling he is reorganizing office space in his head as he talks with you.

“We brought in a lot of new providers in January, and we’re at capacity from a space standpoint. I gave up my office back in January when we brought in new providers, and as of today, our shared space is filled up, too. But we’re not meeting demand yet, and in fact demand keeps increasing with the more recognition we get, the more awareness of us being here,” he says.

Dr. Orlich is a pediatric neuropsychologist, and she fields my questions about girls and autism with a practiced air, joking that she can lecture all day, so stop her when I’ve had enough. “We know genetically–when we look at girls and boys with autism, we see that different genes show up in boys with autism than girls with autism. So we already know that there’s genetic variation in the two groups.”

Sex differences in general, she suggests, may explain why girls are able to mask some of autism’s effects. “So we think that girls, in general, have better skills in social communication than boys do. We see differences in the brain structure of girls and boys, in the amygdala for example. It’s one of the parts of the brain that helps you to judge the way that people’s facial expressions look. Girls who are less severe may not be picked up with a diagnosis of autism until they’re a lot older, in their early teens.”

“Traditionally, we’ve thought girls’ autism is more severe than boys,” explains Orlich. “But the thing that’s really different is IQ. Girls who have a diagnosis of autism generally have lower IQ than boys who have a diagnosis of autism. That’s the first difference, and it makes the girls’ autism look more severe, but the question is, are their symptoms of autism more severe? And the answer is probably in some places yes and some places no.”

“What we see for girls on the spectrum is that’s where they really struggle,” with peers as they grow older. “A lot of the skills that we’re asking girls for don’t really become really challenging until middle school. We orient little girls toward social knowledge, right away, from when they’re really young. It gives girls a leg up on not expressing some symptoms of autism.

“What they can’t really learn to do naturally is how to do what girls do in conversation. Girls’ social relationships are all about talking, all about the ins and outs of what you do, picking up on the social mores, what’s cool and what’s not. For boys with autism as they age, it’s less about conversation and more about doing. Or their conversational topics can be about doing something. What girls do is play a conversational game. Especially in middle school it’s just mind-boggling,” she says, laughing.

People with autism are famously literal, and girls with autism will have trouble with more sophisticated, abstract, social communication, too. “They get stuck,” Orlich says. “One girl says to another, ‘Did you see Becky’s outfit? That was so out there!’ Now, when you say ‘out there,’ to a kid on the autism spectrum, she’ll think, ‘Out where?’ Any other girl would know it means it’s really cool or out of date.

“Girls on the spectrum will have really specific interests, just like boys on the spectrum do. We see less repetitive behaviors in girls, but the same amount of repetitive interest: getting over-focused on pets, saving the animals, knowing every kind of cat or horse–that kind of interest we’ll see equally across boys and girls.”

Sallie Tisdale mentions that her daughter develops interests, but then lets them fall–she wishes she could find one thing to orient her life around. It’s what Dr. Orlich calls the “good side to autism,” the ability to focus on one thing to the exclusion of all others.

It’s an aid to treatment: “You might want to push against their hyper-focusing, but that would not be a good choice. You need to join it and use it, and then expand from there. With a typical kid, you shift their attention. With autism, you say, I’m going to step into that and leverage that interest. It’s more of an inside-out approach.”

If girls don’t tantrum, they do have a higher incidence of depression than boys with autism, which may be related to their greater chances of going undiagnosed. “For a girl with autism, let’s say she’s not identified until nine, she’s high-functioning, maybe with Asperger’s, her IQ is normal, so she’s been able to “pass”–maybe she’s been the quirky kid in the class?” says Orlich, building a case history.

“Kind of spacey, maybe one friend, but not making trouble. She’s nine years old and still blissfully in her own little world. She gets into middle school and the lightbulb goes on that she’s really different. Depression is a challenge there.

“With a later diagnosis, of course, you’ve missed the window of early intervention. The way we think about autism is we modify ‘social brain’ circuitry, we change what rewards that circuit. There’s a window of opportunity to have an impact because of neurological plasticity. Although girls can be responders to treatment even at a later age–they really can be–the other challenge will be co-occurring mental health issues like anxiety and depression.”

But the bottom line, repeat both Orlich and Meyer, is that any given child with autism requires individual attention, not a sex-based template. “Boy, girl…we still need to say, Who are you?” emphasizes Orlich. “What are your strengths and weaknesses? Some boys love to talk, some girls don’t like to talk at all.”

At Children’s they’re continually adding to therapy modalities. They use cognitive behavioral therapy, tweaked to address autism’s tunnel-vision and resistance to change. They teach conversation skills individually and in groups. “We’ve added in a component for anxiety management where we teach kids some of the mindfulness strategies and that’s been really effective, too,” says Orlich.

“It’s just a lot more individually focused than trying to find one thing that works and then roll it out to everybody,” add Meyer.

The Center handles about 300 visits a week, or 1,200 visits a month, and it’s set up so that almost all the staff perform dual roles. Researchers have clinic duty; front desk schedulers all have at least a Bachelor’s in psychology, and do a kind of triage for providers, as well as give advice and support when stressed families call. In the lab, study is ongoing on telemedicine for rural areas, there are clinical trials for medication, clinical trials for interventions, looking at social skills and cognitive behavioral therapies.

The autism epidemic, as it’s been called, has largely been portrayed in terms of its effect on children. But with no cure in sight for autism, children are still growing up, and we are learning a lot more about autism affects people over their full lifespan. Children’s sees a wide range of ages.

“Some people have a diagnosis of autism and they’re coming here looking behavioral therapy or social skills groups, they might be coming looking for someone to adjust their medications, and then we have the people who are still looking for a diagnosis,” says Meyer. “One distinction between us and the UW Autism Center is they only see little kids. We get a lot of the older kids because there’s not a lot of other places for them to go other than here. Even on the diagnostic side, which is a little more slanted toward younger kids, we get a fair number of referrals coming in for older kids who haven’t been diagnosed yet.”

“Or complex older kids,” chimes in Orlich, “because we have the combination of medicine, and behavior, and speech here. For really young child intervention, if you can afford it or your insurance will cover it, there are quite a few providers in the area. What’s happening for us is that the population we see would be the population that would present for diagnosis later anyway–lower income families, in general.”

Orlich says parent training is becoming more and more important. “The overarching piece that’s starting to define our lab is looking at family systems. We’re seeing that there’s a real impact on intervention. I also study also quality of life of people with autism, and their families. We’re looking into ways to support siblings, because they’re often the long-term caregivers.

“We have a really big safety net for the families and I think we’re different from other centers that way because we have this support component that runs parallel to and is just as important as the clinical service we provide. One of the visions we talked about early on is, we’re kind of a home. Even if we can’t serve you here, we’ll figure out how to get you that service and what the next step is.”

Meyer jumps back in: “We’re also seeing a lot of kids that now they’re eight or nine, or thirteen or fourteen, and they’re making a transition into puberty or middle school or high school, and new behavior starts popping up. There’s this anxiety that wasn’t there before. A lot of the people coming here are, ‘My son just got kicked out of school because of his behavior, we need some help.'”

“Autism over someone’s life is something of a moving target,” Orlich says. “Kids develop and change, and kids with autism develop and change, just like any other child. Fortunately for the kids and parents, because we have this stop-start approach, parents are out there trying to use these skills and so are the kids, and that’s a good learning experience for them. We’re not there all the time. Otherwise, they can’t try it out and feel competent on their own.

“I’ve been been in both kinds of systems, and in the system where parents come out of early intervention, which is very intensive and well-supported, if a center or clinic doesn’t have that next step for them, it’s very anxiety-provoking.”

If you take the numbers that Autism Speaks uses, with an incidence of autism at one in 110, the scope of the issue is daunting. The U.S. population is about 305 million. The resulting population “on the spectrum” would be around 2.8 million people, the population of Utah, Arkansas, or Kansas. Almost three million people who will have sometimes severe difficulty with any of the transitions that life throws at you: graduating from high school or college, finding a job, losing a job, moving into an apartment, moving out of an apartment, dating, marriage, divorce, the death of a parent….

All the things that can throw people without autism for a significant loop, can derail an otherwise high-functioning person with autism. Even things that are, in essence, progress in life, because they represent change, can be a barrier. What the staff at Seattle Children’s are seeing is the the vanguard of that 667 percent increase in diagnoses of autism, the consequences of which will inevitably change the structure of mental health care throughout all our lives.