Mounting Evidence Fingers Mitochondria In Autism Risk
People Affected By Autism Believe Increase Is 'Real,' Not Diagnostic
Intense Reading Program 'Rewires' Kids' Brains
Autism Seen As Asset, Not Liability, In Some Jobs
Safety Data From Kid Drug Trials Often Unpublished
ABA Autism Recovery on CNN
Preventing Harmful Restraint and Seclusion in Schools Fed Act Introduced
Recent Education Legal Decisions
McKinnon Lawyers File Last Gasp Extradition Appeal
Teen Phenom Sarah Lonsert Wins USA Songwriting Competition
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
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
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,
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
"It was like a sea change," says Jay
Gargus, professor of physiology and biophysics at the University of
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
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
+ Read more: is.gd/5iraZ
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
Schafer Autism Report
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
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
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
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
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?
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
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
"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
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
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
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
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
“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
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
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
• • •
Recent Education Legal Decisions
From LRP Publications www.shoplrp.com/speced
Teen's problem behaviors at home
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
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.