Friday, September 26, 2008

Controlling nerve cell connectivity - more developments

A day or two ago my post on Fragile X and autism research included a discussion of a general theme in current autism research ...
... Bear and other scientists have also identified several drugs that seem to correct the problem. The drugs don't replace the missing brakes in the brain. Instead, they limit acceleration by reducing the activity of a group of receptors on brain cells known as mGluR5 receptors.

The drugs have reversed most of the effects of Fragile X in mice. They are now being tried in humans. And at least one small study found that a single dose of a drug had an effect....
The idea is that neuronal connectivity is a delicate, dynamic, balance. Too much connectivity, or too little, can both prevent cognition from working correctly.

So now there's research on modulating neuronal interconnectivity. If they worked safely these drugs would inevitably be used on "normal" brains, probably illegally, but they could be of enormous benefit to persons with impaired cognition.

Note in this review the implication that autism and schizophrenia may be, in a simplistic sense, two sides of one coin.
A Switch to Turn Off Autism?: Scientific American

Scientists say they have pinpointed a gene in the brain that can calm nerve cells that become too jumpy, potentially paving the way for new therapies to treat autism and other neurological disorders...

... The brain is continually trying to strike a balance between too much and too little nerve cell activity. Neurologists believe that when the balance tips, disorders such as autism and schizophrenia may occur. They are not sure why neurons (nerve cells) go berserk. But Greenberg says he and his colleagues located a gene in mice and rats that helps keep neural activity in check—and may one day be manipulated to prevent or reverse neurological problems.

Researchers report in Nature that they discovered a gene called Npas4 churns out a protein that keeps neurons from becoming overexcited when they fire (communicate with one another through connections known as synapses). When scientists blocked the protein, the nerve cells fired or sent out more signals than normal; when they beefed up production, the neurons quieted down...

As scientists learn more about how brain cells stay balanced, Greenberg says they will be able to identify people who are genetically at risk for neurological disorders and develop new drugs to prevent and treat them. He notes that some of the other genes that Npas4 affects also have been linked to autism...
Drugs to treat these disorders are years away from common use -- if ever. In the near term understanding the protein products of these genes may help us better classify and organize brain disorders, though we can also expect that prenatal testing will lead to more abortions.

These developments may also increase the value of doing genetic testing on persons with cognitive disorders, so that if appropriate trials are available one might, very carefully, consider enrolling.

Thursday, September 25, 2008

Minnesota Special Hockey Oct 11th open skate

Our family has enjoyed MN Special Hockey four about 2.5 seasons. We joined up in a pre-launch test, back when we skated with sled hockey. We're starting a new season with a free open skate the University of Minnesota's Mariucci arena (pdf flyer, see directions).

If you have a friend or family member in the Twin Cities region with a cognitive or social/behavioral disability, please invite them to our open skate - or check out our contact list.

MN Special Hockey has worked well for us. It's kind of a milder version of pond hockey, except that we play in good settings with great volunteers and coaches. We even have cheerleaders for the special games.

We get support from very generous donors like Section 108, Hockey Docs, 21 for kids and the Dasburg's -- so everyone can play. (Our family doesn't need financial support, but even without support it's not bad.) Games/practices are weekly, so it's not a burden.

We have three teams that roughly surround the Minneapolis St. Paul metro area, so there's a team in a reasonable drive for the entire metro area.

We're a fairly pale bunch, but not entirely white. Otherwise we're pretty diverse, aged 4 through 50+. Most players are more or less cognitively impaired, but a few are higher IQ Asperger's or varying degrees of autism.

When we started almost nobody skated, but after a few years some do pretty well. Some play in a private world, some are getting good enough to out skate me.

So regardless of age or skating ability, MN special hockey is worth a look! Come by the skate -- parking is easy and it's free.

Our media links and front page have some additional background.

Congress Passes Mental Health Parity Bill

Bush says he'll sign. This is a big step forward for all children and adults with special needs, though the primary focus is on the adult psychiatric disorders ...

Health Blog : Congress Passes Mental Health Parity Bill

The long fight over putting the coverage of mental health on par with other health conditions is nearly over.

Both houses of Congress yesterday passed bills that would prohibit employers who offer mental health coverage from doing things like charging higher co-pays for mental health services than for other kinds of health care. That’s long been a common practice...

.... Kennedy, who has battled substance abuse, is a Rhode Island Dem. and a sponsor of the bill. His dad, Sen. Ted Kennedy, now battling brain cancer, has been a champion of the legislation in the Senate.

The legislation exempts businesses with fewer than 50 employees. That’s one of several compromises that won the bill broad support from the business community and the Bush administration.

The House passed the language as a stand-alone bill (online here), while the Senate included it in another measure. So they’ll have to come to a joint agreement about what form the measure will take to be sent off to the White House for the president’s signature.

People who suffer from chronic depression will pay much less for health care, but those who do not will pay slightly more. That's the way insurance works, it's a good thing.

Tuesday, September 23, 2008

Bill Clinton on heatlhcare coverage for autistic children

It's hard to remember the glory days of Bill Clinton's administration.

Here's a side comment on an interview he recently had ...
Clinton on the bail-out — Crooked Timber:

.... He didn’t talk about healthcare in great detail, but it was clearly on his mind. He said that when he had been stumping for Hillary, he had heard tragic stories about people with no or insufficient health insurance in every town that he had visited. He had been particularly struck by the lack of help for families with autistic kids. He didn’t talk at all about the policy responses – but this was clearly something that he saw as a priority....

NPR series on autism: Hope for Fragile X, autism in college and more.

Public radio has been running a series on cognitive disorders. You can read summaries and listen to audio on the npr web site. I assembled this list by visiting a few and checking out related links. It covers most of the programs over the past two years, the more recent ones are first.

Like millions of other NPR donors, I wish NPR provided downloadable MP3s rather than streaming audio. I must remember that the next time they hit me up for money.

I heard the most recent program on my commute this morning. It was on of those stories about parents, the Tranfaglia-Clapps in this case, who create a foundation and hound scientists to accelerate progress in their disorder. Alas, I’m no saint. These stories annoy me. Should I feel bad because I haven’t created a foundation for my kids?

Rationally, it’s not a good bet. Ironically, the Tranfaglia-Clapps were inspired by the movie “Lorenzo’s Oil”, but that was a movie. In reality the “oil” was a bust; the time and energy largely wasted except insofar as they supported new studies and research directions. That’s the hard thing about science and clinical research – there are lots of “busts”. There are many ways to spend one’s limited time and energy with special needs children, and time spent on developing a foundation has to be subtracted from competing priorities.

Even bad bets have winners though, and in this case the family’s small foundation made a starter grant to a neuroscientist casting around for money. Maybe Dr. Bear would have found his starter grant elsewhere, but chances are his work, at least, would have moved slower and taken longer. His initial results worked, and he was able to raise NIH funds….

Drugs Hint At Potential Reversal Of Autism : NPR

… every now and then, a basic scientist makes a discovery that changes human lives.

Mark Bear, who directs the Picower Institute for Learning and Memory at MIT, is one of those basic scientists. He's discovered a system in the brain that could change the lives of thousands of people with the genetic disorder known as Fragile X Syndrome.

Fragile X is a mutation on the X chromosome that can cause mental retardation and autism. Until now, there has been no treatment.

But Bear discovered that the mutation responsible for Fragile X appears to disrupt a system in the brain that regulates synapses — the connections between brain cells. He says the system works a bit like a car.

"You really need both the accelerator and the brake to properly function," Bear says. "In the case of Fragile X, it's like the brakes are missing. So even tapping the accelerator can have the car careening out of control."

Bear and other scientists have also identified several drugs that seem to correct the problem. The drugs don't replace the missing brakes in the brain. Instead, they limit acceleration by reducing the activity of a group of receptors on brain cells known as mGluR5 receptors.

The drugs have reversed most of the effects of Fragile X in mice. They are now being tried in humans. And at least one small study found that a single dose of a drug had an effect.

The implications for people with Fragile X are huge. If the drugs work, people with the disorder could see their IQs rise and their autism diminish.

"It's a dream come true to think that we have the prospect of having gone from really basic science discovery to a potential treatment," Bear says.

Bear's research was funded in part by a group called FRAXA. Katie Clapp and her husband, Michael Tranfaglia, started the group in the early 1990s as a way to help their son Andy, who has Fragile X Syndrome.

Clapp says she now has reason to hope that Andy, who is now 19, can get better.

"We're not expecting a miracle, or to make up for his 19 years of development," she says. "But if we can watch improvement happen, that's a dream."

We can cure damn near anything in mice, so the animal studies are just interesting.

There are lots of hits on mGluR5 and autism, including a 2007 TIME article. Here’s a 2005 review synopsis:

Purpose of review: This review will describe recent developments in the neurobiology of fragile X syndrome (FXS), the association between FXS and autism, and involvement in premutation carriers.

Recent findings: Metabotropic glutamate receptor 5 (mGluR5)-coupled pathways are dysregulated in individuals with FXS and this is thought to relate to the FXS phenotype. The mGluR5 model suggests that mGluR5 antagonists, including downstream effectors such as lithium, could be useful for treating FXS. Two forms of clinical involvement associated with the fragile X mental retardation 1 (FMR1) gene, autism and fragile X-associated tremor/ataxia syndrome (FXTAS), have received additional attention during the past year. One study has found that approximately 30% of individuals with FXS have autism; those with autism have lowered cognitive abilities, language problems, and behavioral difficulties compared to those with FXS alone. Furthermore, evidence is mounting that autism also occurs in some young males who have premutation alleles. Finally, males and occasional females with premutation alleles may develop a neurological syndrome with aging that consists of tremor, ataxia, peripheral neuropathy, and cognitive deficits. Significant brain atrophy and white-matter disease is usually seen. This new disorder (FXTAS) is thought to be related to elevated levels of abnormal FMR1 mRNA.

Summary: Full-mutation forms of the gene (> 200 repeats) can cause autism, learning disabilities, anxiety disorders, and mental retardation. Disorders associated with premutation forms of the gene (55-200 repeats) include, in addition to autism, FXTAS in older males and females, and premature ovarian failure.

My sense is that this sounds like a step along a road, but it might be a dead end. Progress, nonetheless.

I’ll take a look at the other programs over time and I’ll blog on any that are worthwhile. The next time NPR asks you for money, tell ‘em you’re going to hold back until they start providing MP3 downloads …

Sunday, September 21, 2008

The rise and fall of autism vaccine theories

Salon features a book review by a physician journalist that traces the rise and fall of theories relating autism to vaccines. These theories are as dead as phlogiston, but strong supporters persist. Some of those supporters have financial motivations, but for others the belief has come to resemble religious devotion.

Most of the story was familiar to me, though I recall far more early skepticism than Dr. Parikh mentions. I think there was more early support among UK scientists, but US physicians were more suspicious. Those suspicions were justified, Lancet retracted the original article and the primary author is now suspected of fraud (emphases mine): Books | Inside the vaccine-and-autism scare

By Rahul Parikh

Sep. 22, 2008 | ... Dr. Paul A. Offit's new book, "Autism's False Prophets: Bad Science, Risky Medicine, and the Search for a Cure,

... Offit begins by tracing the history of the anti-vaccine movement to its roots in England in 1998: That's where a young, charismatic and ambitious researcher named Andrew Wakefield held a news conference to reveal he had discovered that the measles-mumps-rubella (MMR) vaccine causes autism. The prestigious medical journal Lancet subsequently published his paper. Soon, headlines warning parents about "child jabs" appeared on the front page of newspapers all over the U.K., and droves of parents began refusing the MMR vaccine. Despite the resurgence of measles in the U.K. as a result, Wakefield was hailed as a muckraker. The BBC even made a biopic about his fight against the establishment.

... Among the resulting press were Robert F. Kennedy Jr.'s "Deadly Immunity," published simultaneously in Rolling Stone and Salon, and David Kirby's blockbuster book, "Evidence of Harm," a damning account of the link between autism and vaccines and of our government's efforts to cover up a link between the two...

... it wasn't until 2004 that Brian Deer, an investigative reporter for London's Sunday Times, discovered damaging evidence against him. Despite what Wakefield claimed in his paper, his hospital's ethics committee never approved his experiments to put children to sleep under general anesthesia, do spinal taps on them, take biopsies of their intestines (one of the children was hospitalized after his colon perforated in several places) and take volumes of blood from their veins. Deer also discovered serious conflicts of interest: Wakefield's research was secretly bankrolled by a personal injury lawyer whose clients were suing MMR makers. Wakefield himself was given close to a million dollars to prove that the MMR caused autism. He had filed a patent for a new MMR vaccine at the same time he was doing his research. Upon learning this, Lancet retracted his paper, and he was charged with professional misconduct in 2005. If he is found guilty of misconduct, he will never practice medicine in the U.K. again.

The last nail in the coffin came in 2007 during an "autism omnibus proceeding" in the United States. (This is a federal hearing for several thousand parents who claim their children developed autism because of vaccines. Those parents are seeking compensation from the federal government.) Wakefield's former research assistant testified that his discovery about the MMR vaccine was, in reality, the result of contaminated lab equipment and that Wakefield knew this about but ignored it. In other words, as Offit writes, "Wakefield had crossed the line from ill-conceived, poorly performed science to fraud."

Eleven studies now show that the MMR vaccine doesn't cause autism (the most recent just came out). Six have shown that thimerosal doesn't cause autism; three have shown thimerosal doesn't cause neurological problems. Studies showing the opposite, like Wakefield's, use flawed methods, have serious conflicts of interest or have been conducted in animals whose results can't be extrapolated to humans.

... the father-and-son team of Mark and David Geier, one a doctor and the other with a college degree in biology. The elder, Mark, opened a homemade lab in his basement, where, under the patronage of anti-vaccine advocates, he works on his theories. They include prescribing Lupron to autistic children, a drug that several states use to chemically castrate sex offenders. The son, David, runs a medical-legal consulting firm, where he offers up expert witnesses for vaccine-injury trials. The two work hand in hand to make money both selling treatments and testifying as expert witnesses in vaccine-autism cases...
In addition to the obvious harm caused by falls in vaccination rates, these 17 research studies were a necessary but huge waste of time, money, and talent. I'd rather one of them had been spent on strategies for helping autistic children learn more effectively ...

Friday, September 12, 2008

Kindle reader - not ready for visually or cognitively impaired

It's a little disappointing that the Kindle is not quite ready for people with visual impairment ... Vision Impaired - Can a Kindle help? - kindle swindle Discussion Forum

A family member has been having a signifificant problem with her vision. I liked the idea of the magnification provided by a Kindle. I have several questions ...
Reviewing the responses I learn that the Kindle allows several font sizes, but even the largest is only comparable to a large text book. The contrast doesn't work as well for persons with macular degeneration as a backlit device.

Of course there's no screen reader integration - yet.

The good news is that there are no technical problems with increasing the font sizes, and even the screen reader abilities can't be too far away.

I hope Amazon will provide more support for the visually impaired in Kindle 2.0.

Thursday, September 04, 2008

Palin cut special needs funding by 62%

She made these cuts while Alaska's oil revenue was booming.

Grasping Reality with Both Hands: The Semi-Daily Journal Economist Brad DeLong


To the families of special-needs children all across this country, I have a message: For years, you sought to make America a more welcoming place for your sons and daughters. I pledge to you that if we are elected, you will have a friend and advocate in the White House.

But then you read:

However, a comment here notes that Palin actually slashed funding for schools for special needs kids by 62%. Budgets: FY 2007 (pre-Palin), 2008, 2009 (all pdfs).

This is consistent with her political record and ideology.

We already know McCain's dismal attitude towards support for disabled persons, and Obama's strong policy position.

A vote for McCain/Palin is a vote against our children and loved ones.

Monday, September 01, 2008

Technology for special needs

It's hard for corporations to invest in solutions for special needs adults with cognitive disabilities. The market seems too small.

On the other hand, it's easy to justify solutions for aging Americans with pre-dementia -- that's a large and growing market that will hopefully include me one day. (Live long enough, your brain will go.)

The cognitive state of a pre-demented 75 yo overlaps with that of a young person with cognitive impairment. So all of the solutions described in this article are applicable to our loved ones (emphases mine) ...
Basics - For the Advanced in Age, Easy-to-Use Technology -

...“The new market is old age,” said Joseph F. Coughlin, director of the Age Lab at M.I.T. ...

The companies that are successfully marketing new technologies to older people are not those that have created high-tech ways for seniors to open jars. Rather, they are the ones that have learned to create products that span generations, providing style and utility to a range of age groups...

... Consumers with less-nimble fingers find the large knobs in Honda’s boxy Element easy to manipulate...

The rash of accident avoidance technologies — like blind spot detection, lane departure warning and adaptive cruise control (which slows your vehicle down if you get too close to another car) — cross age boundaries in their appeal...

Here are some current technology products created for aging consumers:

... The Jitterbug clamshell phone (, made by Samsung ($147, not including a service plan), does not reveal itself as a phone for older people until it is opened, displaying oversize buttons and large type on the screen. One-touch buttons enable easy dialing of 911 and other emergency numbers. The carrier markets the phone to the elderly with ads that explain that consumers can either dial numbers or ask a Jitterbug operator to do it for them. The company says 30 percent chose an operator’s help.

Phone numbers can be manually entered into the Jitterbug or the company can do it for consumers. Full text-messaging will be available next year.

... The Pantech Breeze ($50 with contract), by AT&T, and the Coupe ($30 with contract), by Verizon, are a bit more subtle in that they look more like standard cellphones. They are simplified flip phones with somewhat large buttons, oversize type and three one-touch buttons for emergencies. The Breeze includes Bluetooth capability and a pedometer.

... Later this year, iRobot will market the ConnectR, its “virtual visiting robot,” which will allow people to remotely view and speak to others. With its activities managed from a Web site at a remote location, the robot can be told to travel around a house to make sure that its occupants are safe, to read a story to a child...

TAKE YOUR MEDICINE Another problem of aging is forgetfulness. A number of automated pill dispensers that verbally alert users when to take their medication are available. From Timex, the Daily Medication Manager ( holds medication and can alert a user to take dosages up to four times a day.

Med-Time, from the American Medical Alert Corporation (, can be programmed to dispense as many as 15 pills, each up to 28 dosages a day. When the unit beeps, the user turns the device over to release the pills.

The simple moments of forgetfulness may not be able to be eliminated, but their effects can be mitigated.

For those who misplace items, the Loc8tor (, starting at about $100, can find up to seven items. A small tag is attached to an object, which is then registered on the Loc8tor’s main unit using radio frequency. When an item is misplaced up to 600 feet away, the user chooses the item from the list and a series of tones points the user in the correct direction.

Of course, if the main unit is lost, you may never find your keys. In which case, several lock manufacturers offer keyless home entry locks that use fingerprint recognition technology to open a door. Available from such companies as Kwikset and 1Touch, the units, which start at around $200, can authorize 50 or more users depending on the model...