Blog - On SFARI

• The evil Internet

  

  I’m a journalist and a blogger — stands to reason that I think all things Internet are generally good. It’s a lot easier to find out what I should write about, whom I should interview about it, how I can reach them… you know the drill. Life is just easier.

  Apparently, though, when it comes to science, the Internet has made things worse.

  You’d think that having all the papers in the world at the behest of a mouse and a monitor would make scientists more likely to find those papers, read them and cite them in their own work.

  But according to a paper published in Science, as more journals go online, fewer papers are being cited.

  Sociologist James Evans from the University of Chicago analyzed citations for 34 million papers dating back as far as 1945, and calculated how long a paper is cited before it fades into scientific oblivion. What he found is that for every year of back issues that a journal archives online — whether that archive is free or paid — the average age of the cited articles falls by a month.

  This can’t be good, can it?

  It’s possible that scientists are just being more selective and citing only those articles that are directly relevant, instead of filling up pages with every ancient paper listed in a competitor’s manuscript. But it's also possible that this targeted searching will limit scientists’ imagination.

  When researchers browse through the print copies, they might spot an article or two that isn’t directly relevant to their work, but may inspire new ideas nonetheless. That’s not likely to happen if they only download the latest in their narrow arena of expertise.

  Makes me glad that though I get most of my news online, I still read the paper version of the New York Times on the weekends. Never know what I might stumble across.

  Posted on 8 August 2008 09:10:00 EDT .:. 0 comments

• Signals of schizophrenia

  

  People with schizophrenia have a much higher frequency of duplications and deletions in their DNA, two independent teams of researchers are reporting today. The teams have both found that schizophrenia is associated with genetic changes in regions of chromosomes 1, 15 and 22.

  This isn’t entirely surprising — several other teams have reported in the past two years that schizophrenia, like autism, seems to be the result of rare copy number variations(CNVs), in which a chunk of DNA is deleted or duplicated.

  But because those CNVs are so rare — some of them only appearing in a single individual — those studies haven’t had the statistical power to be entirely convincing.

  The new studies, which appear online today on Nature, are relatively massive and turn the signal-to-noise ratio way up.

  One set of researchers, from the International Schizophrenia Consortium, scanned the genomes of 3,391 people with schizophrenia and 3,181 controls. The team found that, overall, those with schizophrenia are 1.15 times more likely to carry CNVs compared with controls. The effect is stronger when the researchers looked at CNVs that contain genes (1.41-fold higher) and even more with the rarest CNVs that occur only once (1.45-fold higher).

  The second is from the SGENE consortium, which includes Iceland’s famous deCODE Genetics and 17 other institutions across Europe, the United States and China. That team identified de novo CNVs — those that are only in the offspring, but not in the parents — by analyzing the DNA from 15,000 parents and children. They then tested the 66 CNVs they found using this method in 1,433 people with schizophrenia and 33,250 controls.

  Both teams linked schizophrenia to large deletions on chromosome 15q13.3 and 1q21.1, neither of which has been previously reported. They also confirmed that a previously identified deletion on chromosome 22 is associated with the disease. The fact that two independent teams, using two different approaches, implicated the same regions gives these findings serious credibility.

  Interestingly, a deletion in one of these regions, 1q21.1, has been found before in two individuals with autism—more evidence that autism and schizophrenia are closely linked.

  Posted on 30 July 2008 17:07:00 EDT .:. 1 comment

• An illness by any other name

  

  Earlier this week, at a staff meeting at the foundation, we were talking, as we often do, about the relationship between genes and autism, and the tenuous, ill-understood connections between the two.

  We’re a diverse bunch here, with diverse educational backgrounds — spanning all the way from director Gerry Fischbach to admin staff who have little training in science — and, of course, the most intriguing questions often come from the latter.

  Wednesday was no different. We suddenly found ourselves getting deep into the relationship between psychiatric diseases and genetics. When we know more about the genetics, one staffer asked, will there be one gene that can explain all autism’s symptoms? Will there even be such a thing called autism?

  Judging by where the field is heading, maybe not.

  As an article in Nature explained earlier this month, it’s increasingly clear that illnesses such as schizophrenia, depression, bipolar disorder, autism etc are in fact a continuum of brain-related disorders that have been given arbitrary definitions, for lack of better information.

  In fact, there are probably a few hundred risk genes, and which illness manifests itself may depend on which combination of genes someone inherits. Scientists are finding, for example, that autism and schizophrenia are intricately linked.

  That makes it difficult, to say the least, to find risk genes for any one disease. One group of researchers is arguing that scientists should instead focus on what are called ‘intermediate phenotypes’, which fall between the genes and the eventual behavior clinicians rely on to make a diagnosis.

  These phenotypes, which could include the structure and function of different brain regions, are quantifiable — and so, more reliable — than behavior.

  It’s entirely possible that at some point, people will no longer be diagnosed with schizophrenia or autism, but instead with their very own specific, constellation of abnormalities.

  Posted on 25 July 2008 16:05:00 EDT .:. 0 comments

• Savage attack

  

  If you’ve read this blog before, you know that I believe that the rising numbers of autism cases, the “epidemic” if you will, may be explained by changes in how we diagnose the disease now, and because of the special services available to children with autism.

  It’s too bad that it took an ill-informed and rabid rant to get that hypothesis some mileage in the national press.

  The saga began last Wednesday, when popular radio shock jock Michael Savage blamed bad parenting for autism and declared that “in 99 percent of the cases, [a child with autism] is a brat who hasn't been told to cut the act out."

  He went on in this spectacularly ignorant fashion on his show, heard on 350 radio stations nationwide: "What do you mean they scream and they're silent? They don't have a father around to tell them, 'Don't act like a moron. You'll get nowhere in life. Stop acting like a putz. Straighten up. Act like a man. Don't sit there crying and screaming, you idiot.'"

  Not surprisingly, parents and advocates in the autism community are out for blood, demanding that Savage be fired and staging protests at radio stations across the country.

  What is surprising is that unlike most celebrities who put their foot in it, Savage didn’t apologize and retreat. He claimed yesterday that his comments were intended to alert people to the fact that, like attention deficit disorder, autism is an over diagnosed condition.

  “This cartel of doctors and drug companies is now creating a national panic by over diagnosing "autism" for which there is no definitive medical diagnosis!" he said.

  I can’t support 99 percent of his ridiculous rant, but I can certainly get behind the idea that autism has become the “illness du jour” and that most people are unwilling to at least consider the possibility that maybe, just maybe, it is being over diagnosed.

  Posted on 22 July 2008 13:38:00 EDT .:. 0 comments

• A little restraint

  

  For many parents with autism, the ultimate goal is to have their children lead lives that are as ‘normal’ as possible — and that includes attending mainstream schools, where their child would be just like everyone else.

  The problem is, many of these children are not like everyone else, and aren’t treated that way. Yesterday’s New York Times ran a horrifying article chronicling a rising trend in schools of abusing children with special needs.

  Maybe I am naïve, but I found myself gasping as I read it. Teachers are locking up children — in one case, at least 31 times in one year — holding children down, tying them to chairs, even accidentally suffocating them in their attempts to restrain them.

  Perhaps it’s unsurprising that these problems have surfaced: according to the article, the school system serves 600,000 more special education children than it did a decade ago. And, I bet, not nearly the number of teachers with the skills needed to help those children.

  But given that that’s the case, what’s the solution? Is enrolling children with autism or Asperger’s Syndrome in a mainstream school really such a good idea? Or is it, perhaps, time to pull back?

  Posted on 16 July 2008 16:44:00 EDT .:. 1 comment

• Sudden death

  

  I’ve heard anecdotally that adults with autism sometimes die unexpectedly.

  In last week’s Science magazine (subscription required), I read a well-reported piece about sudden death associated with epilepsy and how poorly studied it is, even though it was first reported in 1868. According to the article, as many as 40% of people with frequent seizures die suddenly.

  And that got me thinking: is there a connection here?

  A significant proportion — estimates vary between 5 and 40 percent — of those with autism have epileptic seizures, so it would make sense that the sudden death observed in autism may be the result of epilepsy.

  But I haven’t been able to find much about whether this is true.

  A PubMed search of “autism” and “sudden death” retrieves 19 papers, many of which are not relevant to my query. There is one intriguing abstract about a 20-year-girl with Rett syndrome.

  The author, Roger Byard, says there are many potential problems associated with Rett Syndrome, including epilepsy and cardiac arrhythmias, but none that you can conclusively link to a death after the fact. He suggests, in fact, that “’Complications of Rett syndrome' may, therefore, be the most accurate designation when individuals with this condition are found unexpectedly dead.”

  I can appreciate that this is a particularly thorny problem to study, but surely there must be more information about this. Any of you know any more about this?

  Posted on 9 July 2008 16:00:00 EDT .:. 0 comments

• 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