Blog - On SFARI

• Fragile delivery

  

  Let me first apologize for not having updated the blog in a few days. I was away getting married last weekend, while news in the world of autism piled up...

  Last month, while I was distracted, researchers reported in the journal Developmental Cell that the protein that’s missing in those with fragile X syndrome is necessary for ferrying other proteins to synapses.

  Fragile X syndrome is caused as a result of mutations that silence the gene that encodes the fragile x mental retardation protein (FMRP).

  FMRP is known to control the expression of other genes by binding their messenger RNA — the intermediate step between DNA and protein.

  Among the proteins FMRP regulates are several at the synapse, so those with the syndrome have defects in both the structure and function of synapses.

  Using high-resolution fluorescence imaging to track FMRP in cultured neurons, what the researchers have discovered now is that FMRP binds to a molecular motor and carries these mRNAs from the nucleus, where they are made, to the synapses.

  When FMRP is missing, the mRNAs (and therefore the proteins) don’t make it to the synapse, where they are needed for healthy brain development, learning and memory.

  The researchers also identified some of the mRNAs, which may help develop treatments for the syndrome.

  Posted on 2 July 2008 16:59:00 EDT .:. 0 comments

• Autism everywhere

  

  In the past few days, the New York Times has run a couple of articles featuring people with autism.

  This isn’t unusual in of itself, except that neither article ran in the health section. And both take a compassionate look at individuals who struggle with autism in profound ways.

  The first, which ran on Sunday, is about Darius McCollum, notorious for his obsession with New York’s subway trains.

  For almost 30 years, this 43-year-old has repeatedly posed as a subway worker. For his transgressions, McCollum has been arrested 23 times (and not without justification; in 1981 he drove one train into the World Trade Center) and written about in colorful terms by the New York press.

  But this is the first time that I’ve noticed anyone talking about his autism. His mother says his obsession with trains is rooted in Asperger’s syndrome and that he could easily put together model trains and other toys.

  Even more heartbreaking is an article that ran yesterday, detailing the struggles of a 19-year-old with cerebral palsy, mental retardation and autism.

  Kendall Bailey is a champion swimmer and up for competing in the Olympic Games for disabled athletes in Beijing this September. Like many kids with autism, Bailey is frightened of unfamiliar people and places, flies into uncontrollable rages and crawls under tables.

  The story goes on to describe the US team’s efforts to keep Bailey from Beijing, but the real story is their reaction to his autistic behaviors.

  As McCollum’s mother says, “With all these kids who are autistic, they slip behind the cracks, but nobody is trying to help him at all.”

  Maybe it’s my bias as a journalist or my eternal optimism, but I believe writing about people like McCollum and Bailey is at least a first step.

  Posted on 19 June 2008 17:26:00 EDT .:. 0 comments

• The not-so-simple synapse

  

  Try this on for size: the human brain has about 100 billion neurons, connected by 100 trillion synapses.

  We already knew that the human brain has many more neurons than the brain of any other animal, and is three times as large as even its closest relative, the chimpanzee.

  In a paper in Nature Neuroscience on Sunday, scientists reported another clue to the human brain’s superiority: synapses become increasingly more complex as you climb the evolutionary scale from single-celled yeast to humans.

  In the human brain, these 100 trillion protein-rich synapses help form specialized regions that are responsible for language, social communication, learning and memory — all of which are affected in diseases such as autism.

  There is ample evidence that synapses may be intricately involved in autism.

  Mutations in neuroligins and neurexins, which together help assemble and tether synapses, are associated with the disorder; and mutations in Shank3, a scaffolding protein, are thought to account for up to one percent of autism cases.

  Posted on 13 June 2008 14:55:00 EDT .:. 0 comments

• Minority report

  

  Autism is sometime called the result of an ‘extreme male brain’.

  And the classic traits associated with the disorder — social awkwardness and obsessive interests, for example — are associated with, and better tolerated in, men than in women.

  Add to this the statistics — that autism affects four times as many boys as girls — and it’s no surprise that girls and women with autism feel all but invisible.

  Although it’s clear there is a gender divide, not much is known about the scientific basis for the difference. Leo Kanner, who first recognized autism as a distinct disorder, thought it only affected boys. He later realized his mistake, but even today, girls with autism are often diagnosed later than are boys.

  Even after their diagnosis, these girls face formidable challenges.

  Because women are expected to have qualities such as empathy and the ability to socialize easily, for example, women with autism or Asperger’s syndrome struggle more to fit in at work or in school, according to an article last week in the British newspaper, The Guardian.

  As one woman with the disorder says, “If I had been a boy… I'd have gone into science, I'm sure - I might have gone on to be a nuclear physicist. I'd have met some girl who would have become my supportive wife and she would have made up for my social shortcomings, in the eyes of the world, and I'd have been the rather odd but brilliant professor who couldn't really handle social occasions.”

  Posted on 10 June 2008 11:05:00 EDT .:. 0 comments

• A many-splendored thing

  

  Between Thursday and Sunday last week, New York played host to the first annual World Science Festival, a fantastic lineup of events featuring more than 125 of the world’s most brilliant and original thinkers.

  Full disclosure: The Simons Foundation is one of the festival's sponsors. But that doesn't take away from the fact that fully packed halls listened to discussions on space, global warming, neuroscience, string theory, genetics, mathematics and predictions on the future of science.

  If anything, there were too many choices, as one reporter playfully lamented. Here was a fascinating look at brain-machine interfaces. There was Dear Albert, The Letters of Albert Einstein, a play written by the actor Alan Alda, who seems to charm everyone he meets. And there was a fascinating talk on music and the brain by Oliver Sacks, one of my personal heroes.

  There was a street fair at Washington Square Park thronged by families, and the debut of the Kavli prizes, awarded to three brilliant scientists in the fields of nanoscience, astrophysics and neuroscience.

  The goal was to celebrate science’s power and promise, and to open the eyes of children and adults alike to its magic. As festival co-founder and physicist Brian Greene put it in a column in the New York Times on Sunday, “You don’t have to be a scientist for science to be transformative.”

  If the numbers are any indication –- festival officials estimate attendance at 120,000 -- people in New York are well on their way to being transformed.

  Posted on 4 June 2008 13:50:00 EDT .:. 0 comments

• Genetics giant on the move

  

  Everyone in the scientific community is talking about Francis Collins’ unexpected decision to step down on 1 August as director of the US National Human Genome Research Institute.

  Collins is a giant among geneticists, and championed many pivotal projects including, most notably, the Human Genome Project. Among his newer ventures are the Cancer Genome Atlas and the signing into law of GINA, the genetic antidiscrimination bill that had circulated in Congress for more than a decade.

  Here at the foundation, we have on occasion turned to his expertise to address the complex genetics of autism.

  But at 58, Collins is far too young to retire, which is why, when I heard about this yesterday at the World Science Festival, there was instant speculation among attendees about his next move.

  At a press conference yesterday (listen), Collins said he might consider taking over as head of the National Institutes of Health when the current director, Elias Zerhouni, steps down. He may also, apparently, be interested in serving as science advisor to the next President. That, as we all know, would be a welcome change from the current nonsense/nonscience-led administration.

  But neither of those events is imminent, which leaves me still wondering: where is Collins headed?

  Posted on 29 May 2008 13:39:00 EDT .:. 2 comments

• The language of autism

  

  When we write news articles for this website, we sometimes struggle with the most respectful and appropriate language to use in talking about autism.

  We would never call people who have a disease “patients”, for example, because it is dehumanizing, but the lines get blurrier.

  Is it better to refer to “children with autism”, or to “autistic children”?

  Most disability activists would cite the former, but within the autism community are activists who argue that autism is not an illness, but an alternative way of being.

  By that argument, it’s inaccurate, not to mention strange, to refer to a child with autism, as it would be to describe a man as “a person with maleness”.

  I had heard about this remarkable group of activists before, but a fascinating article in this week’s New York magazine airs their views on what they call “neurodiversity”: the idea that autism is not a disease, but simply a genetic variation that should be accepted and even celebrated.

  The article is long but well worth reading to the finish. What I found particularly interesting is that the neurodiversity activists are at direct odds with parents who believe that vaccines are causing an epidemic of autism.

  Somewhere in the middle are people like Temple Grandin, who say that some people with Asperger’s or high-functioning autism have been the smartest scientists and artists the world has ever known, but that it would be nice to be able to prevent the most severe forms of the disorder.

  In other words, like the autism spectrum itself, there are far too many views in the autism community to represent any one as accurate.

  Posted on 28 May 2008 12:35:00 EDT .:. 1 comment

• A shot of reality

  

  I try not to spend too much time on the vaccine theories because as far as I’m concerned, they’re well-trod territory: all evidence suggests that neither thimerosal, nor the triple jab for mumps-measles-rubella (MMR) causes autism.

  But occasionally, events in the world force me to address the issue. Last week, a special 'Vaccine Court' began hearing from parents who claim that thimerosal damaged their child’s brains and caused autism.

  Last summer, Thomas Powers, a lawyer, argued another theory, that thimerosal and the triple jab for mumps-measles-rubella together cause autism. Next summer, lawyers will argue that the MMR vaccine is the sole cause of autism.

  This time, there’s a different twist: Powers is arguing that previous studies all looked at thimerosal and autism overall, and not specifically at “regressive autism”, a subgroup in which children are thought develop normally and then suddenly develop autism.

  Powers even brought out an expert, Sander Greenland, a professor at the UCLA School of Public Health, to say that there is a "substantial association" of thimerosal with regressive autism.

  As we reported in an article on Friday, many studies have been unable to find any evidence that this subgroup of regressive autism even exists.

  But who knows whether that matters to the court?

  In the New England Journal of Medicine last week, vaccine expert Paul Offit wrote a clear piece outlining the troubling history of the vaccine court’s unscientific judgments, and explaining exactly how these vaccine theories are flawed.

  For example, he points out that the smallpox vaccine alone used to contain 200 viral proteins, whereas the 14 vaccines given today together have 150.

  Offitt also talks about Hannah Poling, who has a rare mitochondrial disorder and features of autism. The court last year ruled that vaccines may have injured Hannah, a 9-year-old from Athens, Georgia — which is far from proof that vaccines cause autism.

  But, as Offit says, these cases have far-reaching implications on public health. When parents don’t vaccinate their children, as they are increasingly choosing to do, they put their children in real — not speculative and unproven — danger.

  Posted on 19 May 2008 17:24:00 EDT .:. 0 comments

• Counting adults with autism

  

  I wrote last week about Temple Grandin saying that autism — or at least Asperger’s — has always been around. She believes that many scientists and thinkers, including Albert Einstein, had autism, and others around them just thought they were nerdy.

  If she's right, adults with autism should be all around us — just perhaps labeled as being “weird” or misdiagnosed as having mental retardation, learning disabilities or any number of other conditions.

  We'll find out soon enough: a team of British scientists, including noted autism researcher Simon Baron-Cohen and others at the University of Leicester, this week launched a £500,000 study to calculate the number of adults with autism.

  This is the first study of its kind, as far as I know. The researchers plan to interview and examine random samples of people to estimate autism’s prevalence among adults, and report their results in 2009.

  The study is also intended to help adolescents transition into adult life with a focus on mental health, social care, housing and education.

  Judging by the information I can find, at least, the project is impressive in its ambitions. It is being funded jointly by the UK’s Department of Health and the Department for Children, Schools and Families. And an autism expert will be appointed within the Department of Health to coordinate the studies.

  Maybe in 2009, there will finally be numbers to counter the idea that autism is a new epidemic.

  Posted on 14 May 2008 16:25:00 EDT .:. 2 comments

• Thinking in pictures

  

  Imagine a church steeple. What do you see? A general image of a steeple that broadly resembles steeples anywhere? Or a series of snapshots, each one a detailed recollection of a real steeple?

  Some people with autism see specific, detailed images instead of a generic picture when they imagine an object. This piece of insight comes directly from Temple Grandin, arguably the most famous person with autism.

  On Wednesday evening, I got a chance to hear Grandin speak at Hunter College, which has a new Autism Center. Grandin is extremely high-functioning; she is an associate professor at Colorado State University and a wonderful speaker — warm, charismatic and funny.

  In fact, if I hadn’t known that Grandin has autism, I don’t think I would have guessed.

  I may have chalked it down to her being weird, or nerdy. As she herself said, before there was the awareness about autism there is today, people with Asperger’s “were just called geeks and nerds”.

  Grandin covered a lot of territory in her talk, including some of her work with animals, but I was fascinated in particular by her descriptions of what it’s like to have autism and be fixated on details: to see so many trees, that you completely miss the forest.

  She also explained her early difficulties with language — although she certainly seems to have overcome those now. “I think entirely in pictures,” she said. “If I don’t have a picture, I don’t have thought.”

  At the end of the session, Grandin answered questions from audience members who have friends or family members with autism. I’m not sure all her answers are scientifically solid, but the one thing that was really clear is the desperate need people who deal with autism have for any answer at all.

  Posted on 9 May 2008 14:45:00 EDT .:. 0 comments