Saturday, December 10, 2011
Savant skills may be widespread in people with autism
Savant-like skills, such as astounding memory, perfect pitch or the ability to multiply very high numbers together, may be much more common among people with autism than previously thought.
A new study of about 100 adults with autism shows that one third have skills that stand out, both in comparison with their other abilities and with the skills of the general population. Previous studies put the prevalence of savantism in autistic people as around 1 in 10.
"People often focus on the things people with autism can't do," says Patricia Howlin of the Institute of Psychiatry at King's College in London, who led the study. "One of the things our study illustrates is that these are people who do have special skills but they are not being used."
The notion of the savant – someone who has a skill that is exceptional both compared to the general population and to that person's other skills – has long captured the imagination of cognitive scientists and the general public alike. But despite this fascination, the connection between autism and savantism remains mysterious.
Some studies indicate that there are more savants within the autistic population than among the general population and among the populations of people with other mental difficulties. Putting an exact figure on the prevalence of such special skills among people with autism, however, has proved difficult.
Outstanding skills
In an attempt to quantify this, Howlin's team looked at two different measures of exceptional ability in a group of people with autism – all now adults – who the team have been studying periodically since they were first diagnosed between 1950 and 1985. They found that 39 met criteria for either what they call a "savant skill" or an "exceptional cognitive skill".
To identify savant skills, the researchers sent the parents of the autistic adults a questionnaire asking them to identify and describe, using specific examples, any outstanding skills and talents that were present "at a level that would be unusual even for normal people".
Of almost 100 parents who replied, about half (45) claimed that their child had a special skill. But only 24 met the researchers' tough criteria for what constitutes a savant skill: both exceptional in terms of population norms and above the individual's overall level of ability.
Relying on parents' anecdotal reports of skills could be risky. However, Francesca Happe, also at the Institute of Psychiatry but not involved in the study, says that the team's criteria were "pretty strict": "They didn't count anything that could conceivably be considered a normal skill. I don't think the parental reports are inflated."
Searching for savants
Among those skills considered at the savant level were: being able to name the elevation of both the sun and the moon at any time of day, on any specified date; being able to name the day of the week for any date in the distant past or future (a fairly common savant ability known as calendrical calculation); perfect pitch; and the ability to say, from a single chord, which piece of music it came from.
To identify exceptional cognitive ability, Howlin's team also examined the volunteers' scores on standard intelligence tests consisting of a range of subtests aimed at different aspects of IQ, such as arithmetic, spatial and motor skills and memory span. They found that 23 had an ability on at least one of these subtests that was well above the general population's average score on that subtest.
Eight of these 23 had also been identified as a mathematical or calendrical savant according to the first criteria, and the team concludes that overall 28.5% – or almost one third – of their volunteers had either a savant skill or an exceptional cognitive ability.
"I think it is a surprisingly high number, but believable," says Happe. She says that the study opens a window into the mind of a child with autism and recommends using these isolated, exceptional abilities as a way to motivate people with autism to learn other skills – such as social or communication ones – that might not come as easily.
One in ten?
Darold Treffert, a psychiatrist based in Fond du Lac, Wisconsin who studies savants, says that he sticks by an earlier estimate of the prevalence of savantism as being one in ten among people with autism. This is based on previous studies and backed up by his own observations.
He says this is partly because he is mistrustful of parental reports, and partly because he does not think that the peak ability in the intelligence subtests qualifies someone as a savant. "Some autistic savants do well on IQ subtests, but not all autistic persons who do well on IQ subtests are savant."
But he says the study is interesting, because it underscores the failings of IQ tests to measure overall intelligence.
"We are all made up of a series of intelligences, especially the savant, and IQ measures one component," he says. "Savants starkly challenge our definition of 'intelligence' and require us to look for ways to measure other 'intelligences'."
"We need a more reliable definition of savant syndrome, and a more reliable definition of intelligence," he adds.
Sunday, July 17, 2011
Skating mom helps son with autism soar
“Fiend Club,” Lyra Stephens’ roller derby persona, is a dark, fierce competitor, circling the rink fighting for the Deadutantes in bouts all over the South. She’s the captain of the team, which is part of the only derby league in Montgomery, Ala., the River Region Rollergirls.
Derby is her passion and her stress-buster. It’s fun. It’s serious, physical business. She’s willing to get hurt.
But when she’s simply Lyra, she’s also the mom of 5-year-old Sewell, who at age 2 was diagnosed with autism. Autism is a developmental disorder that appears in the first three years of life, and affects the brain’s normal development of social and communication skills. It’s now estimated that one in 110 children will develop autism.
After she enrolled Sewell in a therapeutic skateboarding clinic hosted by the A.Skate Foundation, a Birmingham, Ala.-based organization for kids with autism, Stephens realized her derby team — as committed to giving back to the public as it is to winning bouts — could help.
She organized a benefit scrimmage for A.Skate that will bring three other derby teams from the region to Montgomery to help the cause.
A.Skate, co-founded by Crys Worley, also the mom of an autistic son, gives kids with autism the chance to play a solo sport. For autistic kids, the social dynamics of team sports are difficult at best, impossible for most.
According to its website, the program, which travels throughout the U.S., holds clinics for children with autism at no cost to the families, gives grants to children with autism for skateboard gear, as well as promote awareness and educate families about the skateboard industry.
Derby is her passion and her stress-buster. It’s fun. It’s serious, physical business. She’s willing to get hurt.
But when she’s simply Lyra, she’s also the mom of 5-year-old Sewell, who at age 2 was diagnosed with autism. Autism is a developmental disorder that appears in the first three years of life, and affects the brain’s normal development of social and communication skills. It’s now estimated that one in 110 children will develop autism.
After she enrolled Sewell in a therapeutic skateboarding clinic hosted by the A.Skate Foundation, a Birmingham, Ala.-based organization for kids with autism, Stephens realized her derby team — as committed to giving back to the public as it is to winning bouts — could help.
She organized a benefit scrimmage for A.Skate that will bring three other derby teams from the region to Montgomery to help the cause.
A.Skate, co-founded by Crys Worley, also the mom of an autistic son, gives kids with autism the chance to play a solo sport. For autistic kids, the social dynamics of team sports are difficult at best, impossible for most.
According to its website, the program, which travels throughout the U.S., holds clinics for children with autism at no cost to the families, gives grants to children with autism for skateboard gear, as well as promote awareness and educate families about the skateboard industry.
Thursday, May 27, 2010
The Autistic Surfer
Posted on: September 8, 2009 2:16 PM, by Jonah Lehrer
In the latest issue of Outside Magazine, I profile Clay Marzo, a rising star on the pro surfing circuit. In December 2007, Clay was diagnosed with Asperger's Syndrome, a mild form of autism. What's so intriguing about Clay's story is that his Asperger's isn't a hindrance or handicap. Instead, it's a crucial part of his success, allowing Clay to focus, for hours at a time, on nothing but the physics of waves and the mechanics of surfing:
Clay Marzo has been waiting all morning for waves. He's standing with his surfboard next to a NO TRESPASSING sign on the edge of a pineapple field, looking down at a remote beach on the northwest shore of Maui. There are no tourists here, because there is no sand, just a field of jagged lava rocks and a private dirt road. The tide is still too far out, so the waves are trashy. Clay hasn't said a word for more than an hour; he hasn't even moved. He's just stood in the hot tropical sun and stared silently at the sea.
The waiting ends a few hours later, shortly after 1 P.M., when the trade winds begin to blow. Clay furiously rubs his hands together, like a man trying to start a fire, and lets out a few guttural whoops. He then grabs his board and quickly descends the steep slope in his bare feet, motioning for me to follow him.
There are a few surfers in the breaks to the right, away from the rocks. Clay heads to the left, where the waves are bigger. He paddles out and starts scanning the horizon, counting the seconds between the heaving swells. After a few minutes, he abruptly turns around and points his board toward the shore. His body goes taut and he starts to push backwards. The wave is still invisible--I can't even feel the undertow--but Clay is already searching for the perfect position. And then it appears: a six-foot wall of shimmering blue. The water rises until it starts to collapse, which is when Clay pops up onto his board. He accelerates ahead of the break--his sudden speed makes the wave seem slow--and then he snaps upward, launches his board into the air, and somehow whips it around, so that he lands backwards on the disintegrating lip. For a dramatic moment, Clay looks off balance, but then he reverses the board and calmly rides the whitewash until it can no longer carry him. The wave is over. He's already looking for the next one.
Clay Marzo doesn't love surfing. Love is a complicated thing--sometimes people fall out of love--but there is nothing complicated about Clay's relationship to the ocean. For Clay, surfing is an elemental need, a form of sustenance, a way of being that he couldn't be without. He just turned 20, but he can't remember a time when he wasn't obsessed with barrels, shortboards, and the daily swell report. When there are no waves, Clay sinks into a stupor. His face takes on a sad, frustrated expression, and strangers think that he's constantly about to cry, although that's just because his light-blue eyes get irritated by the sun. When I ask Clay what he would do if he couldn't surf, he looks confused for a second, as if he's unable to imagine such a terrifying possibility. "I don't know," he says. "I guess then I would just want to surf."
In December 2007, Clay was diagnosed with Asperger's syndrome, a form of "high-functioning" autism. In recent years, as parents and doctors have begun to worry about a possible autism epidemic--a reported 1 in 150 children are now diagnosed with the syndrome--there has been an increased focus on understanding and treating its symptoms, which include impaired social interactions, difficulty with communication, and the tendency to fixate on repetitive behaviors. While Clay has many of these deficits--he's easily overwhelmed by other people and often struggles to express himself--he also demonstrates one of the distinguishing features of Asperger's: an "encompassing preoccupation" with a narrow subject. Some children with the syndrome become obsessed with 19th-century trains or coffee makers or The Price Is Right. Others will memorize camera serial numbers, even if they show little interest in photography. Hans Asperger, the Viennese pediatrician who first identified the disorder in 1944, argued that such obsessiveness can be a prerequisite for important achievement, even if it comes at a steep social cost: "It seems that for success in science or art, a dash of autism is essential," Asperger wrote. "The necessary ingredient may be an ability to turn away from the everyday world ... with all abilities canalized into the one specialty."
What makes Clay unique is that his obsession is a sport, not an abstract intellectual category. While many children with Asperger's are marked by their lack of coordination--"motor clumsiness" is a very common trait--Clay moves in the water with an uncommon grace. (His movements are much more awkward on dry land; I watched him hit his head on a car door and knock over two water glasses in the span of 15 minutes.) "Clay's kind of a surfing freak," nine-time Association of Surfing Professionals world champion Kelly Slater has said. "He's like a cat. He's got this ability to always land on his feet. Clay definitely knows things that I don't know." Clay's nickname is "the Rubber-Band Man," since he'll consistently stick maneuvers, such as his signature aerial reversal, that aren't supposed to be possible. He'll be bent over backwards, his blond hair in the water, and he'll find a way to stand up.
At the moment, Clay is one of the most celebrated surfers in the world. He already has a national surfing title and numerous Hawaiian titles; he's been featured on the cover of Surfer magazine and is a mainstay on YouTube, where one of his clips has been watched more than 100,000 times. Although Clay has yet to qualify for the ASP World Tour--a series of competitions featuring the 46 top-ranked surfers--his low ranking hasn't hindered his reputation for being world-class. Kai Barger, a fellow Maui surfer and the current ASP world junior champion, recently called Clay "the best out of all of us, and it's all natural. He never had to work at it."
But Kai is wrong. Although Clay's body appears to be perfectly designed for the sport--he has a long torso and short legs, which gives him a low center of gravity and the ability to crouch in tight barrels--his real secret is that he's always in the water. If Clay isn't surfing (and the only time he's not surfing is when there are no waves or it's a moonless night), then he's probably watching slow-motion videos of himself surfing, which he's been known to study for ten hours straight. His mom, Jill Marzo, used to be his main videographer. From the time he was seven years old, she would sit on the beach in the shade and record Clay until the camcorder battery ran out. "If I ever missed a good ride, he'd get so upset," Jill says. "He remembers every single wave. They all kind of look the same to me, but not to Clay. Those waves are what he lives for."
Jill is used to speaking for her son, since he often struggles to speak for himself. Here on Maui, I've watched him flail for words during several interviews with an ESPN news crew, avoiding eye contact and staring instead at the cameras and sound equipment. Even the simplest questions lead to awkward silences and stammers, as if Clay is terrified of saying the wrong thing. And yet, if you're able to talk to Clay when he's comfortable--and he's always most at ease in the warm Hawaiian water--he's likely to surprise you with his eloquence as he reels off one vivid metaphor after another. He describes the feeling of surfing inside a barrel as "like being inside a throat when someone coughs and spits you out." When I ask Clay what he loves about waves, he goes silent and looks away. I assume he's going to ignore my question. But then he utters a line that could easily be his slogan: "Waves are like toys from God."
In the latest issue of Outside Magazine, I profile Clay Marzo, a rising star on the pro surfing circuit. In December 2007, Clay was diagnosed with Asperger's Syndrome, a mild form of autism. What's so intriguing about Clay's story is that his Asperger's isn't a hindrance or handicap. Instead, it's a crucial part of his success, allowing Clay to focus, for hours at a time, on nothing but the physics of waves and the mechanics of surfing:
Clay Marzo has been waiting all morning for waves. He's standing with his surfboard next to a NO TRESPASSING sign on the edge of a pineapple field, looking down at a remote beach on the northwest shore of Maui. There are no tourists here, because there is no sand, just a field of jagged lava rocks and a private dirt road. The tide is still too far out, so the waves are trashy. Clay hasn't said a word for more than an hour; he hasn't even moved. He's just stood in the hot tropical sun and stared silently at the sea.
The waiting ends a few hours later, shortly after 1 P.M., when the trade winds begin to blow. Clay furiously rubs his hands together, like a man trying to start a fire, and lets out a few guttural whoops. He then grabs his board and quickly descends the steep slope in his bare feet, motioning for me to follow him.
There are a few surfers in the breaks to the right, away from the rocks. Clay heads to the left, where the waves are bigger. He paddles out and starts scanning the horizon, counting the seconds between the heaving swells. After a few minutes, he abruptly turns around and points his board toward the shore. His body goes taut and he starts to push backwards. The wave is still invisible--I can't even feel the undertow--but Clay is already searching for the perfect position. And then it appears: a six-foot wall of shimmering blue. The water rises until it starts to collapse, which is when Clay pops up onto his board. He accelerates ahead of the break--his sudden speed makes the wave seem slow--and then he snaps upward, launches his board into the air, and somehow whips it around, so that he lands backwards on the disintegrating lip. For a dramatic moment, Clay looks off balance, but then he reverses the board and calmly rides the whitewash until it can no longer carry him. The wave is over. He's already looking for the next one.
Clay Marzo doesn't love surfing. Love is a complicated thing--sometimes people fall out of love--but there is nothing complicated about Clay's relationship to the ocean. For Clay, surfing is an elemental need, a form of sustenance, a way of being that he couldn't be without. He just turned 20, but he can't remember a time when he wasn't obsessed with barrels, shortboards, and the daily swell report. When there are no waves, Clay sinks into a stupor. His face takes on a sad, frustrated expression, and strangers think that he's constantly about to cry, although that's just because his light-blue eyes get irritated by the sun. When I ask Clay what he would do if he couldn't surf, he looks confused for a second, as if he's unable to imagine such a terrifying possibility. "I don't know," he says. "I guess then I would just want to surf."
In December 2007, Clay was diagnosed with Asperger's syndrome, a form of "high-functioning" autism. In recent years, as parents and doctors have begun to worry about a possible autism epidemic--a reported 1 in 150 children are now diagnosed with the syndrome--there has been an increased focus on understanding and treating its symptoms, which include impaired social interactions, difficulty with communication, and the tendency to fixate on repetitive behaviors. While Clay has many of these deficits--he's easily overwhelmed by other people and often struggles to express himself--he also demonstrates one of the distinguishing features of Asperger's: an "encompassing preoccupation" with a narrow subject. Some children with the syndrome become obsessed with 19th-century trains or coffee makers or The Price Is Right. Others will memorize camera serial numbers, even if they show little interest in photography. Hans Asperger, the Viennese pediatrician who first identified the disorder in 1944, argued that such obsessiveness can be a prerequisite for important achievement, even if it comes at a steep social cost: "It seems that for success in science or art, a dash of autism is essential," Asperger wrote. "The necessary ingredient may be an ability to turn away from the everyday world ... with all abilities canalized into the one specialty."
What makes Clay unique is that his obsession is a sport, not an abstract intellectual category. While many children with Asperger's are marked by their lack of coordination--"motor clumsiness" is a very common trait--Clay moves in the water with an uncommon grace. (His movements are much more awkward on dry land; I watched him hit his head on a car door and knock over two water glasses in the span of 15 minutes.) "Clay's kind of a surfing freak," nine-time Association of Surfing Professionals world champion Kelly Slater has said. "He's like a cat. He's got this ability to always land on his feet. Clay definitely knows things that I don't know." Clay's nickname is "the Rubber-Band Man," since he'll consistently stick maneuvers, such as his signature aerial reversal, that aren't supposed to be possible. He'll be bent over backwards, his blond hair in the water, and he'll find a way to stand up.
At the moment, Clay is one of the most celebrated surfers in the world. He already has a national surfing title and numerous Hawaiian titles; he's been featured on the cover of Surfer magazine and is a mainstay on YouTube, where one of his clips has been watched more than 100,000 times. Although Clay has yet to qualify for the ASP World Tour--a series of competitions featuring the 46 top-ranked surfers--his low ranking hasn't hindered his reputation for being world-class. Kai Barger, a fellow Maui surfer and the current ASP world junior champion, recently called Clay "the best out of all of us, and it's all natural. He never had to work at it."
But Kai is wrong. Although Clay's body appears to be perfectly designed for the sport--he has a long torso and short legs, which gives him a low center of gravity and the ability to crouch in tight barrels--his real secret is that he's always in the water. If Clay isn't surfing (and the only time he's not surfing is when there are no waves or it's a moonless night), then he's probably watching slow-motion videos of himself surfing, which he's been known to study for ten hours straight. His mom, Jill Marzo, used to be his main videographer. From the time he was seven years old, she would sit on the beach in the shade and record Clay until the camcorder battery ran out. "If I ever missed a good ride, he'd get so upset," Jill says. "He remembers every single wave. They all kind of look the same to me, but not to Clay. Those waves are what he lives for."
Jill is used to speaking for her son, since he often struggles to speak for himself. Here on Maui, I've watched him flail for words during several interviews with an ESPN news crew, avoiding eye contact and staring instead at the cameras and sound equipment. Even the simplest questions lead to awkward silences and stammers, as if Clay is terrified of saying the wrong thing. And yet, if you're able to talk to Clay when he's comfortable--and he's always most at ease in the warm Hawaiian water--he's likely to surprise you with his eloquence as he reels off one vivid metaphor after another. He describes the feeling of surfing inside a barrel as "like being inside a throat when someone coughs and spits you out." When I ask Clay what he loves about waves, he goes silent and looks away. I assume he's going to ignore my question. But then he utters a line that could easily be his slogan: "Waves are like toys from God."
Saturday, January 23, 2010
New Pfizer unit to take on autism
GROTON, Conn.—Diane Stephenson of Groton has three tangible reasons for wanting to know as much as possible about autism.
Stephenson, associate research fellow at Pfizer Inc.'s Groton laboratories who helped start an autism research unit there earlier this year, has two nephews and a niece with the neurological disorder, which is often accompanied by language difficulties, behavioral problems, sleep interruptions, poor eye contact and low social skills.
Her sister's son Thomas, 23, has never spoken a word. And two of her brother's children, Clarise, 5, and Craig, 2, also have been diagnosed with autism.
Autism is believed to be caused by a combination of environmental and genetic factors, but there is little doubt the disorder tends to run in families. Stephenson said couples who have one autistic child are 30 times more likely than others to have a second with the same disorder.
"Everyone wants a cure," said Stephenson, who has worked at the Groton labs for six years. "I felt there was something I could do."
So Stephenson, along with Pfizer colleague Howie Mayer, who has two children with autism, worked behind the scenes for a year with the idea of forming a separate research unit focusing on autism. They later added another colleague, Larry Fitzgerald, as the group put the finishing touches on its proposal, contacting key experts outside Pfizer who had a grasp on the latest breakthroughs in autism research.
Stephenson said science in the past year has started making significant headway in genetic research geared toward autism. While two years ago might have been too soon to start an autism unit, she and her colleagues believed they had enough science on their side to make the case late last year, she said.
Still, "Most everyone told us we were crazy," Stephenson recalled, especially since Pfizer has been in a downsizing mode lately.
But senior management quickly embraced the idea and launched the autism unit in January with 15 scientists. Fitzgerald became the first head of the unit but departed a few weeks ago while Mayer also has moved on, now working for one of Pfizer's new business units. This left Stephenson as the lone remaining founder of the group still working on-site.
"I think it's a great advance that the pharmaceutical industry is ... looking at how to address the issues related to autism," said Lee Grossman, president and chief executive of the Autism Society of America, in a phone interview. "We believe other companies will start following Pfizer's lead."
Grossman said Pfizer is the only company he's aware of that has taken the initiative to start a research unit devoted strictly to autism, a disorder that now affects 1 in 100 children, according to a new statistical analysis released just last week. Autism was previously thought to affect 1 in 150 children; a dozen years ago, the incidence was put at 1 in 500.
Currently, only one medication—Johnson & Johnson's antipsychotic drug Risperidone—has been cleared by the Food and Drug Administration for use in autistic children. But autism advocacy groups are looking eagerly at Pfizer's new model in the hopes that it can develop novel medicines to help alleviate autism symptoms—or, perhaps more important, delve into a number of its already established drugs that target neural pathways affecting autistic patients.
"Presumably, some drugs already developed could be helpful," said Dr. Michael Tranfaglia, medical director and chief scientific officer of the FRAXA Research Foundation, a Newburyport, Mass.-based organization that funds research and does advocacy work for people with a form of autism known as Fragile X.
Tranfaglia said major pharmaceutical firms like New York-based Pfizer used to spend most of their time chasing the biggest blockbusters but are now gradually coming to realize they may have a treasure trove of older drugs that could target smaller populations, such as those with Fragile X. Fragile X is a rare form of autism in which one key gene shuts down, failing to produce an important protein, leading to learning problems and anxiety, among other symptoms.
Anabella Villalobos of East Lyme, the head of the neuroscience research unit at the Groton labs, said Fragile X gives scientists at Pfizer a relatively easy early target to investigate, since only one gene is involved. Most of the autism disorders—called a spectrum because they are so wide-ranging—involve multiple genes.
"This is all a work in progress," said Villalobos, who is overseeing the autism unit on an interim basis.
Addressing symptoms
Villalobos said the long-range goal will be to prevent autism, but Pfizer plans to address short-term solutions at first. Researchers will begin by targeting symptoms that appear to cross the spectrum of autism disorders, including anxiety, agitation, sleep disorders, social deficits, language disabilities and repetitive behaviors. The idea will be to identify medications that seem to address symptoms among all or most people with autism.
A longer-range goal, she said, will be to understand the neurobiology behind the disorder so that the core symptoms can be treated. This requires the use of animal models to test medications before they are tried on humans in clinical trials.
"What is not clear is if we find medicines for the treatment of Fragile X, will it apply to the broader spectrum?" Villalobos said. "It's not one disease; it's multiple diseases."
One difficulty in developing treatments against autism is that testing on children is so problematic because of dosage and safety concerns, according to scientists. Because of this, Pfizer researchers say, initial testing most likely will be on adults with autistic disorders.
Helping Pfizer in the research process, scientists say, is the fact that several markers of autism recently have been identified. One of these telltale signs of autism is eye-tracking. While normal children tend to focus on the eyes of a face, autistic children usually look away toward the mouth. By having a baseline for how autistic children's eye tracking works, scientists can check to see if certain drugs have an effect on this behavior.
In the neuroscience research unit labs, senior scientist Edward Guilmette already is starting to target certain genes that could have an effect on autism. The effect of turning on or off various genes then is studied in mice models by senior associate scientist Sharon O'Neill, who charts changes in behaviors.
Autistic mice, for instance, might spend more time staring at an inanimate object than interacting with another mouse, O'Neill said.
"That's probably as close as we're going to get (to mimicking autism) in an animal model," she added.
Although 15 researchers may seem like a big commitment, Pfizer scientists said their numbers are small compared to the vastness of research yet to be done on autism. So Pfizer has reached out to a variety of collaborators - at the Massachusetts Institute of Technology, the Yale Child Study Center and New York University, for instance - to develop and expand on their groundbreaking work.
Right now, most of the work being done involves biology and animal studies. But as scientists develop specific small-molecule drug targets, more chemists will be enlisted to help, said Villalobos.
Examining the portfolio
For now, though, it looks as if the first Pfizer medicines targeting autism likely will come from its established drug portfolio. One possibility mentioned by the autism unit's lone remaining founder, Stephenson, is the pain medication Lyrica, though she emphasized that drug trials have yet to establish any clinical support for the hypothesis and that the company was not suggesting any off-label uses.
Dr. Tranfaglia, who has a 20-year-old son with Fragile X, is hopeful that pharmaceutical companies will now be trying to match up established drugs such as Lyrica with potential treatments for specific forms of autism.
He said finding uses for established drugs will be much less costly than the $1 billion price tag of bringing a new drug to market. Drugs currently on the market already have gone through clinical trials showing their safety, he added.
Another factor reducing the cost of developing autism drugs, he said, is that several of the spectrum disorders, including Fragile X, currently have no approved treatment, meaning companies won't have to prove to the FDA that their drugs are more effective than others on the market.
The long-term hope, said Tranfaglia and Stephenson, is to actually reverse the course of autism - an idea that would have seemed magical a few years ago but already has been shown to be possible in animal studies.
"The sooner you intervene, the better," said Stephenson.
"You can actually normalize development," Tranfaglia said. "It's entirely reasonable to think you could completely alter the course of the disease."
Stephenson, associate research fellow at Pfizer Inc.'s Groton laboratories who helped start an autism research unit there earlier this year, has two nephews and a niece with the neurological disorder, which is often accompanied by language difficulties, behavioral problems, sleep interruptions, poor eye contact and low social skills.
Her sister's son Thomas, 23, has never spoken a word. And two of her brother's children, Clarise, 5, and Craig, 2, also have been diagnosed with autism.
Autism is believed to be caused by a combination of environmental and genetic factors, but there is little doubt the disorder tends to run in families. Stephenson said couples who have one autistic child are 30 times more likely than others to have a second with the same disorder.
"Everyone wants a cure," said Stephenson, who has worked at the Groton labs for six years. "I felt there was something I could do."
So Stephenson, along with Pfizer colleague Howie Mayer, who has two children with autism, worked behind the scenes for a year with the idea of forming a separate research unit focusing on autism. They later added another colleague, Larry Fitzgerald, as the group put the finishing touches on its proposal, contacting key experts outside Pfizer who had a grasp on the latest breakthroughs in autism research.
Stephenson said science in the past year has started making significant headway in genetic research geared toward autism. While two years ago might have been too soon to start an autism unit, she and her colleagues believed they had enough science on their side to make the case late last year, she said.
Still, "Most everyone told us we were crazy," Stephenson recalled, especially since Pfizer has been in a downsizing mode lately.
But senior management quickly embraced the idea and launched the autism unit in January with 15 scientists. Fitzgerald became the first head of the unit but departed a few weeks ago while Mayer also has moved on, now working for one of Pfizer's new business units. This left Stephenson as the lone remaining founder of the group still working on-site.
"I think it's a great advance that the pharmaceutical industry is ... looking at how to address the issues related to autism," said Lee Grossman, president and chief executive of the Autism Society of America, in a phone interview. "We believe other companies will start following Pfizer's lead."
Grossman said Pfizer is the only company he's aware of that has taken the initiative to start a research unit devoted strictly to autism, a disorder that now affects 1 in 100 children, according to a new statistical analysis released just last week. Autism was previously thought to affect 1 in 150 children; a dozen years ago, the incidence was put at 1 in 500.
Currently, only one medication—Johnson & Johnson's antipsychotic drug Risperidone—has been cleared by the Food and Drug Administration for use in autistic children. But autism advocacy groups are looking eagerly at Pfizer's new model in the hopes that it can develop novel medicines to help alleviate autism symptoms—or, perhaps more important, delve into a number of its already established drugs that target neural pathways affecting autistic patients.
"Presumably, some drugs already developed could be helpful," said Dr. Michael Tranfaglia, medical director and chief scientific officer of the FRAXA Research Foundation, a Newburyport, Mass.-based organization that funds research and does advocacy work for people with a form of autism known as Fragile X.
Tranfaglia said major pharmaceutical firms like New York-based Pfizer used to spend most of their time chasing the biggest blockbusters but are now gradually coming to realize they may have a treasure trove of older drugs that could target smaller populations, such as those with Fragile X. Fragile X is a rare form of autism in which one key gene shuts down, failing to produce an important protein, leading to learning problems and anxiety, among other symptoms.
Anabella Villalobos of East Lyme, the head of the neuroscience research unit at the Groton labs, said Fragile X gives scientists at Pfizer a relatively easy early target to investigate, since only one gene is involved. Most of the autism disorders—called a spectrum because they are so wide-ranging—involve multiple genes.
"This is all a work in progress," said Villalobos, who is overseeing the autism unit on an interim basis.
Addressing symptoms
Villalobos said the long-range goal will be to prevent autism, but Pfizer plans to address short-term solutions at first. Researchers will begin by targeting symptoms that appear to cross the spectrum of autism disorders, including anxiety, agitation, sleep disorders, social deficits, language disabilities and repetitive behaviors. The idea will be to identify medications that seem to address symptoms among all or most people with autism.
A longer-range goal, she said, will be to understand the neurobiology behind the disorder so that the core symptoms can be treated. This requires the use of animal models to test medications before they are tried on humans in clinical trials.
"What is not clear is if we find medicines for the treatment of Fragile X, will it apply to the broader spectrum?" Villalobos said. "It's not one disease; it's multiple diseases."
One difficulty in developing treatments against autism is that testing on children is so problematic because of dosage and safety concerns, according to scientists. Because of this, Pfizer researchers say, initial testing most likely will be on adults with autistic disorders.
Helping Pfizer in the research process, scientists say, is the fact that several markers of autism recently have been identified. One of these telltale signs of autism is eye-tracking. While normal children tend to focus on the eyes of a face, autistic children usually look away toward the mouth. By having a baseline for how autistic children's eye tracking works, scientists can check to see if certain drugs have an effect on this behavior.
In the neuroscience research unit labs, senior scientist Edward Guilmette already is starting to target certain genes that could have an effect on autism. The effect of turning on or off various genes then is studied in mice models by senior associate scientist Sharon O'Neill, who charts changes in behaviors.
Autistic mice, for instance, might spend more time staring at an inanimate object than interacting with another mouse, O'Neill said.
"That's probably as close as we're going to get (to mimicking autism) in an animal model," she added.
Although 15 researchers may seem like a big commitment, Pfizer scientists said their numbers are small compared to the vastness of research yet to be done on autism. So Pfizer has reached out to a variety of collaborators - at the Massachusetts Institute of Technology, the Yale Child Study Center and New York University, for instance - to develop and expand on their groundbreaking work.
Right now, most of the work being done involves biology and animal studies. But as scientists develop specific small-molecule drug targets, more chemists will be enlisted to help, said Villalobos.
Examining the portfolio
For now, though, it looks as if the first Pfizer medicines targeting autism likely will come from its established drug portfolio. One possibility mentioned by the autism unit's lone remaining founder, Stephenson, is the pain medication Lyrica, though she emphasized that drug trials have yet to establish any clinical support for the hypothesis and that the company was not suggesting any off-label uses.
Dr. Tranfaglia, who has a 20-year-old son with Fragile X, is hopeful that pharmaceutical companies will now be trying to match up established drugs such as Lyrica with potential treatments for specific forms of autism.
He said finding uses for established drugs will be much less costly than the $1 billion price tag of bringing a new drug to market. Drugs currently on the market already have gone through clinical trials showing their safety, he added.
Another factor reducing the cost of developing autism drugs, he said, is that several of the spectrum disorders, including Fragile X, currently have no approved treatment, meaning companies won't have to prove to the FDA that their drugs are more effective than others on the market.
The long-term hope, said Tranfaglia and Stephenson, is to actually reverse the course of autism - an idea that would have seemed magical a few years ago but already has been shown to be possible in animal studies.
"The sooner you intervene, the better," said Stephenson.
"You can actually normalize development," Tranfaglia said. "It's entirely reasonable to think you could completely alter the course of the disease."
Saturday, November 14, 2009
Obama and Autism
At the presidential debates last week, Senator McCain claimed that his running mate, Sarah Palin, knows "more about autism then anyone I know." Janet Grillo in her most poignant HP piece My Autistic Son is Not a Political Pawn, invited the senator to get out there more. Janet, wrote eloquently what so many of us parents of children with autism feel. In my travels promoting autism awareness and the film, Autism:The Musical, I have met hundreds of people whom I believe know more about autism than Sarah Pallin... including my son, Neal.
Neal is my resident expert on autism. Now 14 years old, Neal was adopted from a Russian Orphanage at 23 months, and diagnosed with severe autism at age 3 . Neal is non verbal (or as we prefer to refer to him "a man of few words") so when he speaks his truth through typing - WE LISTEN.
When he was about 9 years old, he was still being placed by the school district in preschool classes. One day after being asked for the umpteenth time to put the blue round peg in the blue round hole, Neal threw the peg boards at the teacher. The school called him aggressive and severely mentally impaired, sentencing him to a restricted special education classroom. I knew otherwise. I believed he threw the pegs out of boredom, frustrated for not having his intellect recognized. I felt that he was capable of much more.
Fortunately we found Darlene Hansen, a communications and speech expert who specializes in working with children like Neal. The first day she met him, she drew a four-square grid on a piece of paper with the words: Washington D.C., Vote, Bush, Clinton.
When asked "Who is the President of the United States?" Neal pointed to Bush. "Who was President before?" He pointed to Clinton. "Where do they live?" He pointed to Washington D.C., " How did they get there?" "Vote."
Immediately, we pulled Neal out of the preschool intensive special ed class and placed him with an aide in a regular third grade classroom. Neal was then mainstreamed in most of his classes doing age-appropriate work and is acknowledged to be highly intelligent.
Neal now types his thoughts and feelings on an Alpha Smart typing machine with support. Last January at one of his sessions with Darlene she asked, ""So, Neal, what have you been thinking about lately?"
"The Elections," he typed on his Alpha Smart keyboard.
"What about the elections?" asked Darlene.
"I'm for Obama, he typed."
"Obama? Why?"
"Obama is for Autism, " he finished.
That evening my husband and I Googled Obama and Autism. And there it was, pages and pages from people with autism. Supporting Obama. We found that Obama speaks for all people who cannot speak. Who do not have a voice, literally and figuratively. How did Neal know this? I hadn't said anything to him, I didn't know myself. Somehow, some way, my son with severe autism had picked up this truth. This was several months ago when I was undecided between Hillary and Barack. Needless to say, Neal influenced my vote.
Cut to a few weeks ago. Neal refused to go to bed. This is not unlike many other teens so I did what any Mom of a stubborn 14 year old would do, I started to bribe him, chide him into going to bed. My husband, Jeff, however had a bit more insight. "Neal", he said, "It looks like you have a lot on your mind: "Would you like to type with us?"
"Yes" Neal nodded.
I immediately grabbed the Alpha Smart and placed it in front of him. "What's on your mind?" Jeff inquired.
"The President." he typed.
" What about it?" we asked.
"Obama," he responded.
"What about Obama?"
"Enough," Neal typed.
"Enough what?" I asked.
"Enough Republican ideology." Neal typed. He continued, "Pallin lies." Thank you Neal. He went to bed immediately and slept soundly through the night.
We did not. Worrying about our country's future, our son's future, the future of all kids with autism, reflecting on the past. Wanting more Obama.
We now watch the campaign and commentary together as a family every night. Neal takes it all in intensely. Last night, Neal was again troubled. We asked, about what?
"Prejudice," he typed.
"How does it make you feel?"
"Sad and mad... Obama is hope."
Thanks Neal. Thanks for clearly stating what so many of us are feeling, sad and mad. And what so many of us need. Hope.
Neal is my resident expert on autism. Now 14 years old, Neal was adopted from a Russian Orphanage at 23 months, and diagnosed with severe autism at age 3 . Neal is non verbal (or as we prefer to refer to him "a man of few words") so when he speaks his truth through typing - WE LISTEN.
When he was about 9 years old, he was still being placed by the school district in preschool classes. One day after being asked for the umpteenth time to put the blue round peg in the blue round hole, Neal threw the peg boards at the teacher. The school called him aggressive and severely mentally impaired, sentencing him to a restricted special education classroom. I knew otherwise. I believed he threw the pegs out of boredom, frustrated for not having his intellect recognized. I felt that he was capable of much more.
Fortunately we found Darlene Hansen, a communications and speech expert who specializes in working with children like Neal. The first day she met him, she drew a four-square grid on a piece of paper with the words: Washington D.C., Vote, Bush, Clinton.
When asked "Who is the President of the United States?" Neal pointed to Bush. "Who was President before?" He pointed to Clinton. "Where do they live?" He pointed to Washington D.C., " How did they get there?" "Vote."
Immediately, we pulled Neal out of the preschool intensive special ed class and placed him with an aide in a regular third grade classroom. Neal was then mainstreamed in most of his classes doing age-appropriate work and is acknowledged to be highly intelligent.
Neal now types his thoughts and feelings on an Alpha Smart typing machine with support. Last January at one of his sessions with Darlene she asked, ""So, Neal, what have you been thinking about lately?"
"The Elections," he typed on his Alpha Smart keyboard.
"What about the elections?" asked Darlene.
"I'm for Obama, he typed."
"Obama? Why?"
"Obama is for Autism, " he finished.
That evening my husband and I Googled Obama and Autism. And there it was, pages and pages from people with autism. Supporting Obama. We found that Obama speaks for all people who cannot speak. Who do not have a voice, literally and figuratively. How did Neal know this? I hadn't said anything to him, I didn't know myself. Somehow, some way, my son with severe autism had picked up this truth. This was several months ago when I was undecided between Hillary and Barack. Needless to say, Neal influenced my vote.
Cut to a few weeks ago. Neal refused to go to bed. This is not unlike many other teens so I did what any Mom of a stubborn 14 year old would do, I started to bribe him, chide him into going to bed. My husband, Jeff, however had a bit more insight. "Neal", he said, "It looks like you have a lot on your mind: "Would you like to type with us?"
"Yes" Neal nodded.
I immediately grabbed the Alpha Smart and placed it in front of him. "What's on your mind?" Jeff inquired.
"The President." he typed.
" What about it?" we asked.
"Obama," he responded.
"What about Obama?"
"Enough," Neal typed.
"Enough what?" I asked.
"Enough Republican ideology." Neal typed. He continued, "Pallin lies." Thank you Neal. He went to bed immediately and slept soundly through the night.
We did not. Worrying about our country's future, our son's future, the future of all kids with autism, reflecting on the past. Wanting more Obama.
We now watch the campaign and commentary together as a family every night. Neal takes it all in intensely. Last night, Neal was again troubled. We asked, about what?
"Prejudice," he typed.
"How does it make you feel?"
"Sad and mad... Obama is hope."
Thanks Neal. Thanks for clearly stating what so many of us are feeling, sad and mad. And what so many of us need. Hope.
Subscribe to:
Posts (Atom)
Posts
