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Mounting Evidence Fingers Mitochondria
In Autism Risk
By Virginia Hughes sfari.org is.gd/5iraZ
Using new genetic screening technology, a few research groups are finding that a surprisingly large number of children with autism — at least five percent — have an underlying problem with their mitochondria, the energy factories of the cell.
If confirmed by larger studies, these preliminary results point to intriguing pathways, such as those involved in calcium-ion signaling, that go awry in the subgroup of children, the researchers say.
It's unclear, however, whether mitochondrial defects are the primary causes of the disorder.
"This contributes to this general idea that you need multiple hits in order to get autism," notes Ricardo Dolmetsch, assistant professor of neurobiology at Stanford University School of Medicine, who was not involved in the new studies.
For example, Dolmetsch notes, one of the hits may be a defect in a mitochondrial protein that, coupled with defects in genes that control electrical excitability, or in genes that control calcium channels, leads to autism. About 1 in 4,000 people carries defects in their mitochondria. These defects come in hundreds of different forms, leading to symptoms of varying severity depending on which tissues are affected.
New York neurologist Jay Lombard first linked mitochondrial disease to autism in 19981. A few years on, researchers published case reports of two children carrying the 15q11-13 duplication, the most common chromosomal rearrangement in autism. These children showed biochemical hints of mitochondrial disease, such as elevated blood lactate — a compound produced by oxygen-deprived muscles during high-energy demand2.
Subsequent reports from a Portuguese group, analyzing a total of 279 children with autism, found that between 17 and 20 percent of the children have similar metabolic signatures in their blood and urine3,4.
The only way to definitively diagnose a mitochondrial disorder, however, is to find specific defects in the 2,000-odd genes that code for mitochondrial proteins — an expensive, time-consuming process that has rarely been done in studies of children with autism5.
Now, with many times more samples than in previous years, at least five American labs are testing children for a wide range of mitochondrial defects as well as for autism or autistic symptoms. Two of these labs have released some early data.
This year alone, the Mitochondrial Diagnostic Laboratory at Baylor College of Medicine has screened samples from about 8,000 people suspected of having mitochondrial disease.
Analyzing records of 4,194 samples sent to the lab between 2005 and early 2009, lab director Lee-Jun Wong found that 276 exhibit features of autism. Within this group, the researchers found 14 children — about five percent — with mitochondrial defects, according to data Wong presented on 22 October at the American Society of Human Genetics annual meeting in Honolulu, Hawaii.
Dolmetsch notes, however, that most people with mitochondrial disease have some kind of neurodevelopmental impairment, which could easily be confused with low-functioning autism.
"Five percent is sort of in the diagnostic noise," he says. "I suspect that at least part of the association comes from the fact that at the low end of the spectrum, the definition of autism gets really fuzzy." Wong says more comprehensive screenings will probably show that the number is actually much higher than five percent.
"We suspect that a lot more of these 276 patients also have mitochondrial disorders, but we are not looking at the right genes," she says.
That's because mitochondrial disorders are caused by defects in thousands of mitochondrial proteins encoded by the nuclear genome, and in about 15 proteins encoded by the mitochondrial DNA that's inherited maternally.
Adding to this complexity, cells harbor several hundred mitochondria, each of which can carry different genetic variants. If alleles are mutated in fewer than 20 percent of the mitochondria, available technologies can't detect them.
In October, a group from the University of Washington published a method for next-generation screening of mitochondrial disorders6. Their technique reads the entire mitochondrial genome and 362 genes of the nuclear genome known to cause mitochondrial disease. It can also pinpoint new, potentially causal, mutations.
Wong's lab is developing a similar, "more comprehensive" sequencing technology that can detect hundreds of thousands of gene mutations related to mitochondrial disorders, she says. With this new tool, which will be ready within a year, she estimates that up to 30 percent of the children with autism in her sample will have identifiable mitochondrial defects.
Fevered debate: Although some researchers have been trying to unravel the link between autism and mitochondria for years, a high-profile court case kicked the work into high gear. In March 2008, the federal 'Vaccine Court' ruled that 9-year-old Hannah Poling, of Georgia, developed autism because childhood vaccinations triggered her underlying mitochondrial disorder.
Of the thousands of cases brought against the federal government claiming that vaccines cause autism, the Poling family became the first to receive government compensation. The settlement spurred a dramatic rise in inquiries from parents about mitochondrial disorders.
"It was like a sea change," says Jay Gargus, professor of physiology and biophysics at the University of California, Irvine.
Gargus has been studying mitochondrial disorders for nearly two decades, and is part of a team looking for defects in mitochondrial proteins and metabolic processes in 200 children with autism. "With the Poling case, I think it came to be recognized that these mitochondrial signals weren't just for these very rare cases, but that they may well be an important component of the run-of-the-mill [autism]," he says.
Atlanta-based Medical Neurogenetics is also releasing data on the subgroup of children who have both autism and mitochondrial disease. Founder John Shoffner, a neurologist and geneticist, says that in the past 20 years, he has seen more than 100 children, including Hannah Poling, who have both disorders.
In September, Shoffner reported that of 28 children with both autism and mitochondrial disorders, 17 went through autistic regression — sudden loss of speech, eye contact, or social interests7. Of that group, 12 did so within two weeks of having a fever.
Because the fever in four of those cases was caused by vaccination, many anti-vaccine proponents say that Shoffner's research suggests a mechanism for how vaccines might trigger autism.
+ Read more: is.gd/5iraZ
[Thanks again, to Margaret Dunkle.]
• • •
People Affected By Autism Believe Increase
Is 'Real,' Not Diagnostic
There has been a major increase in the number of children diagnosed with autistic spectrum disorders over the last two decades - the question is why? Researchers have found a sharp difference between the beliefs of ordinary people and medical experts about the reasons for the increased incidence of autism.
Expert consensus is that the rapid increase is a result of changes in diagnostic practice, but many lay people directly or indirectly affected by the disorder believe that the number of cases have increased in absolute terms. Many also believe that increasing incidence is the result of exposure to new environmental hazards and other effects of modern lifestyles.
A study carried out by researchers from the universities of Exeter and Bristol examined the ideas put forward in unsolicited correspondence to scientists carrying out research into the causes of autism. "Our study highlights the contrast between lay explanations of the increasing prevalence of autism and the consensus opinion of medical experts," says researcher Ginny Russell. "It also demonstrates the strength of lay belief that the rise is due to risks from modern technologies and changing lifestyles, showing a latent unease with these developments."
The researchers, from Egenis, a research centre at the University of Exeter, and the department of community based medicine at the University of Bristol, have published their findings in the journal Child: Care, Health and Development.
"There is no doubt that the reported prevalence of autistic spectrum disorders has increased spectacularly over the last 20 years," said Ms Russell. "Medical consensus is that the increase is not a 'real' increase in cases but is the result of the diagnosis being made more often.
"But our examination of letters and phone calls received by scientists carrying out research into the environmental causes of autism shows that, in the opinion of many people in contact with autistic children, it is not diagnosis but true incidence which has increased, and these people think that we should be investigating what factors have led to this increase. They believe that it goes hand in hand with lifestyle changes in the late 20th and early 21st century, changes which are causing autistic spectrum disorders to occur more often."
More than 40 different environmental factors were put forward as potential causes by correspondents, including foetal monitoring, vaccines, mobile phone radiation, and food additives.
• • •
Intense Reading Program
'Rewires' Kids' Brains
Agence France-Presse is.gd/5id0Z
Children who undergo intensive remedial reading programs not only become better s but can also end up with rewired brains that are better at communicating, a study published Wednesday said.
Carnegie Mellon University scientists Marcel Just and Timothy Keller scanned the brains of 72 children before and after they went through a six-month program to make them better s.
The scans of the eight- to 10-year-olds' brains showed that the quality of white matter—the brain tissue that carries signals between areas of grey matter, where information is processed—improved substantially after 100 hours of remedial reading training, said the study, which was published online in the journal Neuron.
While the imaging indicated that the white matter had become more efficient at transmitting signals, testing showed that the children could read better.
"Showing that it's possible to rewire a brain's white matter has important implications for treating reading disabilities and other developmental disorders, including autism," said Just.
Thomas Insel, director of the National Institute of Mental Health, which helped fund the study, said the scientists' findings "suggest an exciting new approach to be tested in the treatment of mental disorders, which increasingly appear to be due to problems in specific brain circuits."
• • •
Autism Seen As Asset, Not Liability,
In Some Jobs
A new movement helps hone unique traits of disorder into valuable skills
By Chris Tachibana msnbc.msn.com is.gd/5ip9M
Ron Brix’s longtime job as a computer systems developer for Wrigley, the gum and candy maker, required intense attention to detail, single-minded focus and a willingness to work on something repetitively until perfect.
The secret he credits to his success? Autism.
Brix, age 54, was diagnosed in 2001 with Asperger Syndrome, a form of autism often marked by the exact traits that help make him an ideal employee.
"My career would not have existed at all without the autism," says Brix.
The developmental condition, which strikes about 1 in 150 U.S. children, is considered a "spectrum disorder" because it affects people in many different ways to varying degrees, from mild social troubles to a severe inability to communicate.
It's often seen as a heartbreaking diagnosis, but now some revolutionary companies see autism as something else: a resource.
A quiet movement is growing around the globe to help transform the unique attributes of high-functioning autistic adults into sought-after job skills.
In Denmark, the company Specialisterne (the name means "the specialists"), trains people with autism as specially skilled employees who are sent out as hourly consultants to companies to do data entry, assembly work and other jobs that many workers would find tedious and repetitive. Founded in 2004 by businessman Thorkil Sonne, the father of an autistic son, the company has 50 employees, 75 percent of whom are autistic.
In the United States, the non-profit Chicago company Aspiritech recently launched a pilot program to train high-functioning autistics as testers for software development companies. Their first client is mFluent, an iPhone application company near Chicago.
Aspiritech — whose board includes Brix, now retired from Wrigley, and the actor Ed Asner, whose son Charles is autistic — claims those who are autistic have a talent for spotting imperfections, and thrive on predictable, monotonous work.
Brix says his ability to focus on something to the exclusion of everything else gives him an advantage. And Specialisterne says tests show their employees can be up to eight times more accurate at tasks like manual data entry than workers without autism.
"The stuff we do is boring for [others], like going through a program looking at every detail, testing the same function over and over again in different situations, but it doesn't disturb those of us with autism," says Thomas Jacobsen, an autistic employee at Specialisterne. "That's our strength."
Still, software testing isn't simply a repetitive exercise, notes Dan Shiovitz of Marchex, a software company in Seattle that specializes in online search and advertising. While traits of "detail focus, willingness to repeat tasks and technical aptitude are ones we look for in testers, testing has a lot of creative work," he notes. Testers need to be able to figure out possible solutions to problems and be agile enough to change plans at the last minute or deal with sudden new requirements.
These were challenges to Brix in his job programming machines that mix ingredients and wrap gum. A large part of his job involved the human factor, such as designing the interactive screens that operators use to run the machinery. Brix also did on-site set-up, which meant travelling to Wrigley's international locations, meeting new people and functioning in new cultures.
At Wrigley, Brix's longtime colleague Rod Onusaitis helped him navigate his social interactions.
"We got along well," says Onusaitis, an engineer. "I knew what his problems were and I was able to guide him in the right direction to complete his tasks. He was very detailed oriented and a good programmer, but sometimes overlooked the big picture."
Next generation of autistic adults
Each year, over 26,000 children born in the U.S. will eventually be diagnosed with autism, according to the U.S. Centers for Disease Control and Prevention. An estimated half-million people under the age of 21 are autistic, and Specialisterne estimates that 85 percent of them can expect to be unemployed or underemployed.
Aspiritech founder Brenda Weitzberg has a 30-year-old autistic son who, in spite of having a college degree, has been limited by his social skills to jobs like collecting carts for a grocery store.
"I am a friendly guy, and my co-workers like me," says Oran Weitzberg, "however, I have limited social skills and autism does make finding and keeping a job difficult. I have trouble interpreting nonverbal signals from others, and I had to learn to converse in order to be a good co-worker."
He says his retail work at Target, Trader Joe's and AMC Theatres has helped him learn to interact with others.
Both Brenda and Oran Weitzberg say he struggles with poor organizational skills. "He needs an executive secretary," says Brenda Weitzberg. "But I know a lot of men like that." She says seeing her son's struggles inspired her to try to "address the explosion of children with autism who are becoming adults."
Brix also admits to difficulty in multi-tasking and organizing, in addition to his poor social skills. "I tend to be distant and aloof," he says. "I do not do a good job at reading facial expressions, and I do like my solitude."
+ Read more: is.gd/5ip9M
• • •
Safety Data From Kid Drug Trials
By Megan Brooks. is.gd/5isah
Reuters Health - When drugs approved for adults are studied in youngsters, the research yields important safety data that could guide the use of these medications in children, a report published this week indicates.
But in most cases these studies never appear in peer-reviewed journals, and when they do, half of them don't focus on the important new safety data that's been generated, Dr. Daniel K. Benjamin Jr., from Duke Clinical Research Institute in Durham, North Carolina and colleagues found.
"Specifically, trials that uncover new safety findings are less likely to be published than other types of trials, and trials that uncover results unfavorable to a company (or its product) are less likely to be published than those with favorable results," they report in the Archives of Pediatrics and Adolescent Medicine.
Prescription drugs are often administered "off-label" to children largely because many of them have only been tested in and approved for use in adults. As such, drugs are often given to children without fully knowing if they will be beneficial, harmful, or neither.
To address this problem, the US Congress passed the Food and Drug Administration (FDA) Modernization Act in 1997, which, in part, extends the exclusive marketing rights for a particular drug if the drug maker conducts FDA-requested studies of its effects in children. However, it is unclear how often the results of pediatric drug trials are published in peer-reviewed medical journals and just what information gets published.
In the first 10 years of the so-called "pediatric exclusivity" program, more than 95,000 children were enrolled in 365 pediatric trials for the 153 drugs that were granted pediatric exclusivity extensions. Overall, there were 137 pediatric labeling changes, which means that changes were made to the information the drug company gives to doctors about how the drug should be used.
+ Read more: is.gd/5isah
• • •
ABA Autism Recovery on CNN
Karen Siff Exkorn, author of The Autism Sourcebook: Everything You Need to Know About Diagnosis, Treatment, Coping and Healing--From A Mother Whose Child Recovered (HarperCollins 2005) appeared in the December 8th segment "Autism: A Journey of Recovery" on CNN.
You can view the segment at: is.gd/5ios3
• • •
Preventing Harmful Restraint and Seclusion
in Schools Fed Act Introduced
U.S. Reps. Cathy McMorris Rodgers (R-WA) and George Miller (D-CA) today introduced legislation that would, for the first time, protect all children in schools from harmful uses of restraint and seclusion.
According to a press release at Representative McMorris Rodger's website is.gd/5iqUz , the legislation embodies principles outlined in a letter U.S. Education Secretary Arne Duncan sent to Committee Chairmen Miller today. U.S. Sen. Chris Dodd (D-CT) is also expected to introduce companion legislation today in the Senate. The lawmakers unveiled the bill at a press conference this morning; click here to watch (67.4 MB file).
A U.S. Government Accountability Office report released last spring exposed hundreds of cases of schoolchildren being abused as a result of inappropriate uses of restraint and seclusion, often involving untrained staff. In some cases, children died. A disproportionate number of these victims were students with disabilities.
“As a parent, when I send my son Cole to school, my husband Brian and I send him with the expectation that he is safe from danger. We entrust him to teachers, principals, and aides. And we know those school personnel have done an outstanding job to help him and keep him safe. Yet, we know this has not been the case for other children, particularly children with disabilities who are the most vulnerable and need the most protection,” said McMorris Rodgers, a member of the House Education and Labor Committee and vice chair of the House Republican Conference. “I’ve looked into this and have come to the conclusion that there is a lack of training. As difficult situations arise, teachers or principals just don’t know what to do. The legislation that we are introducing today gives states the needed guidance and resources to enable teachers and school personnel to handle difficult situations in the most positive manner possible."
“Something is very wrong when our children are at risk in their own classrooms,” said Miller, the chairman of the House Education and Labor Committee who requested the GAO’s investigation. “In some cases, the abuses these kids are suffering are nothing short of torture inflicted at the hands of the very staff we entrust with their safety. Today is a critical first step toward finally ending this nightmare of abuse and ensuring that all classrooms are safe for students, their teachers, and the entire school communities."
Restraint is used to restrict an individual’s freedom of movement. Seclusion is used to involuntarily confine a student in an area alone. Both practices are meant to be used only in situations of imminent danger. Among other things, the GAO found that restraint can become fatal when it restricts breathing, that many of the school staff who used these interventions in abusive ways had not been properly trained, and that these practices are often being used as a routine disciplinary tactic, rather than in response to an emergency.
In some of the cases GAO investigated, ropes, duct tape, chairs with straps and bungee cords were used to restrain or isolate young children.
+ Read more: is.gd/5iqJD
+ Link to full bill:
+ sheet on the legislation:
+ Good Morning America story:
• • •
Recent Education Legal Decisions
From LRP Publications www.shoplrp.com/speced
Teen's problem behaviors at home fail to show need for residential placement
The 9th U.S. Circuit Court of Appeals affirmed a decision reported at 52 IDELR 14 that an Oregon district did not have to pay for a teenager's placement in a residential facility. Because the placement stemmed from the student's out-of-school behaviors, and not any educational difficulties, the 9th Circuit held the placement was not necessary to meet the student's educational needs. Ashland Sch. Dist. v. Parents of Student R.J., 109 LRP 76642 (9th Cir. 12/07/09).
Medical nature of placement bolsters court's decision to deny reimbursement
Noting that District Courts have discretion to craft appropriate relief in IDEA cases, the 9th U.S. Circuit Court of Appeals affirmed a ruling at 109 LRP 63264 that a student's parents were not entitled to reimbursement for the student's residential placement. The 9th Circuit found no fault with the District Court's conclusion that the placement was for medical rather than educational purposes. Ashland Sch. Dist. v. Parents of Student E.H., 109 LRP 76213 (9th Cir. 12/07/09).
• • •
McKinnon Lawyers File
Last Gasp Extradition Appeal
By John Leyden theregister.co.uk is.gd/5itod
Lawyers for Pentagon hacker Gary McKinnon have filed a judicial review contesting the Home Secretary's recent decision to allow US extradition proceedings to proceed against the Asperger's sufferer. The widely anticipated move is perhaps McKinnon's last best hope of avoiding US trial and likely imprisonment on hacking charges.
Alan Johnson put McKinnon's extradition back into play last month after discounting medical evidence that the self-confessed hacker was potentially suicidal. The move was the latest in a long series of setbacks for McKinnon's family and legal team but still left the door open for a further judicial review, which was taken just before the end of an extended deadline on Thursday afternoon.
In a statement, Kaim Todner (McKinnon's solicitors) explained the content of their latest application for Judicial Review against Home Secretary's decision to extradite McKinnon.
The evidence served includes all previous medical reports together with an up to date psychiatric report on Gary's mental wellbeing and two reports, one English and one American, commenting on the assurances which have been provided on behalf of the US Government to accommodate Gary's illness. We hope that on receipt of these documents the Home Secretary may reflect and reconsider his position.
+ Read more: is.gd/5itod
• • •
Teen Phenom Sarah Lonsert Wins
USA Songwriting Competition
Teen phenom Sarah Lonsert won the Overall Grand Prize of the 14th Annual USA Songwriting Competition along with co-writer Jonathan George. Her winning song "Dancing Through Life" will be on the USA Songwriting Competition's compilation CD next year. Sarah Lonsert, only 17 years old, not only shattered the first prize record of being the youngest winner but also the overall grand prize winner of being the youngest winner ever.
Sarah also won first prize in the Dance/Electronica category, making her the first from that category to ever win the overall grand prize. Sarah Lonsert will be releasing a full length CD earlier next year. Although Sarah suffers from autism, she is a budding singer-songwriter and has also won the L.A. Music Awards last month.
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