Seaver Autism
Research Center, Laboratory of Molecular Neuropsychiatry, Department of
Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA.
Irina.Bespalova@mssm.edu
Autism is a
complex neurodevelopmental disorder characterized by impairment in social
interaction accompanied by a delay or lack of language, restricted interests,
stereotyped behavior, and repetitive movement.
Genetic
predisposition to autism is evident from family and twin studies, and
heritability in idiopathic autism is estimated at over 90%.
Frequency of
the disorder is approximately 1:2000 with a male to female ratio of 4:1.
Affected
individuals look normal at birth, and the symptoms manifest at the first 2-3
years of life.
The spectrum
of clinical symptoms and the severity of the disorder are variable even among
siblings.
Family
studies and several genome-wide linkage analyses support the hypothesis of
complex inheritance with involvement of as many as 10-100 genes of moderate
effect.
Identification of genes responsible for the phenotype would help to understand
the molecular mechanisms of the disorder.
Several
genes have been proposed to play a role in susceptibility to autism, and this
paper will overview those genes and their potential role in the disorder.
PMID:
12846270 [PubMed - in process]
* * *
Prevalence of
Chronic Gastrointestinal Symptoms In Children With Autism And Autistic Spectrum
Disorders
Center for
Epidemiology and Biostatistics, Cincinnati Childrens Hospital Medical Center,
OH 45229-3039, USA. Cynthia.molloy@chmcc.org
The purpose
of this study was to estimate the prevalence of chronic gastrointestinal
symptoms in a general population of children with autism or autistic spectrum
disorder (ASD).
The study
site was a clinic specializing in ASD in a large pediatric medical center
serving a 10 county area in the midwestern USA.
In a sample
of 137 children, age 24-96 months, classified as having autism or ASD by the
Autism Diagnostic Observation Schedule-Generic, 24 percent had a history of at
least one chronic gastrointestinal symptom.
The most
common symptom was diarrhea, which occurred in 17 percent.
There was no
association between chronic gastrointestinal symptoms and a history of
developmental regression.
The
potential phenotypic association between autism and gastrointestinal symptoms is
discussed.
Department of
Pediatrics University of Illinois, College of Medicine at Rockford, Rockford,
Illinois 61107, USA. lfrenkel@uic.edu
OBJECTIVE:
Review and discuss major issues of vaccination and immunization.
The
development and application of vaccination and immunization is one of the most
remarkable successes of the 20th century.
This is true
both in the United States and worldwide.
In the
United States, a number of vaccine-preventable diseases have been all but
eliminated through the development of a recommended childhood immunization
schedule by governmental and nongovernmental organizations, education of
providers about these recommendations, and enforcement of these recommendations
by school and day care entry mandates.
Despite
these successes, vaccine-preventable diseases continue to occur, in part because
of missed opportunities by health care providers, antivaccine forces empowered
by misguided mass media, and parental ignorance.
Important
aspects of the 2002 recommended childhood immunization schedule are reviewed,
including: birth dose hepatitis B, diphtheria underimmunization and tetanus
overimmunization, increasing pertussis disease, the success of conjugate
vaccines, the change in poliovirus vaccines, measles vaccine and autism, the
safety of varicella vaccine, and adult vaccination recommendations.
Finally,
future prospects for vaccination and immunization are discussed, including:
combination vaccines, vaccines against new diseases such as rotavirus, new
routes of delivery of immunizing agents, the use of computerized vaccine
registries to prevent missed opportunities, and vaccines against bioterrorism
agents.
CONCLUSIONS:
A careful analysis of risk and benefit suggests that the benefit of vaccination
far outweighs the risks from the utilization of immunizing agents.
Vaccination
delayed may be protection denied.
The bottom
line is that vaccines are good and disease is bad.
For two
nights around the full moon Benjamin Dionne wont sleep more than an hour. Its
been that way as long as his mom can remember. He breaks furniture in his
bedroom so often theyve nearly stopped putting any in. The closet door is gone.
Benjamin, 9, signs, points to pictures and writes. All his printed messages
start I want.
Emile Thomas
hates buzzing sounds. He wont go outside after spotting a bee. Right now, in
school, hes learning that falling down wont kill him. For a long time, the
9-year-old refused to walk on ice or snow. His dad used to call Emile a little
china doll. n Until last year, a strangers hello could prompt Brandon Hatch
to share his life story, moms name and address. Brandon, 11, will start middle
school with his peers this fall, taking regular classes in all but math (hes a
little behind) and gym (hes a bad
sport.) It scares
her, but his mom is pretty sure Brandon will drive a car some day. n Benjamin,
Emile and Brandon have autism, a disorder with varying degrees of severity
thats growing in Maine every year. Authorities cant simply explain why.
Maybe its
because criteria for diagnosis changed about 10 years ago. Maybe doctors are
finding kids that had never been diagnosed before. Maybe kids are being shifted
from one disability category to another. Maybe its a fad diagnosis.
Maybe.
New numbers
from Maines annual count of special education students show more autistic
children here for the 12th year in a row, which is as long as the states kept
track. In a decade, the figure has grown 754 percent, from 99 students to 846.
No one
appears to have an explanation thats sound, said David Stockford, director of
special services at the Maine Department of Education.
Federal and
Minnesota state health officials are investigating the death of a 22-year-old
Army specialist who died weeks after receiving multiple vaccines, including
anthrax and smallpox vaccinations.
Rachael Lacy
of Lynwood, Ill., a nursing student and combat medic with the 452nd Combat
Support Hospital at Fort McCoy in Milwaukee, got five different vaccinations
March 2 as her unit prepared to deploy to the Persian Gulf.
Ten days
later, she went to the post clinic with shoulder pain and vomiting and was
treated for what health workers thought was a bronchial infection. Over the next
three weeks, she was treated at three different civilian facilities, one of
which diagnosed her with pneumonia, said Fort McCoy spokeswoman Linda Fournier.
Lacy died at
the Mayo Clinic in Rochester, Minn., on April 4 of lung damage.
Dr. Eric
Pfeifer, the Minnesota coroner who performed the autopsy, said the smallpox and
anthrax vaccines may have contributed to Lacys death.
Its just
very suspicious in my mind that shes healthy, gets the vaccinations and then
dies a couple weeks later, Pfeifer said in an interview.
During blood
tests, Pfeifer found evidence of an underlying auto-immune disorder that
previously had not been detected. He has been working with the Army and Centers
for Disease Control and Prevention in the investigation, he said.
One of the
theories is the vaccine may have exacerbated this immune problem she had,
Pfeifer said.
Lacy also
had pericarditis, inflammation of the sac surrounding the heart, according to
her death certificate. That is an expected reaction to smallpox vaccine in some
people, according to medical studies.
Lacys
father insists she was perfectly healthy until she received mandatory smallpox
and anthrax vaccinations. Moses Lacy claims those vaccines caused the
auto-immune illness, and her symptoms were then misdiagnosed.
My daughter
was a health fanatic, said Lacy, a Vietnam veteran. My daughter had no
auto-immune disorder. My daughter didnt have to die. My daughter was killed.
Officials
with BioPort Corp., maker of the anthrax vaccine, were surprised that the death
certificate listed the vaccine as a possible contributing factor.
There were
five immunizations given at the same time, BioPort spokeswoman Kim Root said.
To call one or two of them out would be the thing that concerns us.
The anthrax
vaccine has a safety profile similar to other adult vaccines, she said.
We have no
reason to believe the anthrax vaccine should have been called out based on its
safety profile, Root said.
Nearly three
years ago, a Michigan medical examiner suggested the vaccine as a possible
contributing factor in the death of a BioPort employee.
A review of
that case by civilian physicians who comprise the governments Anthrax Vaccine
Expert Committee, however, determined the vaccine did not lead to his death,
said Army Col. John Grabenstein, deputy director of the Military Vaccine Agency.
In rare
cases, the smallpox vaccine can be fatal. Its history shows that one or two
vaccinated people per million may die, according to the CDC.
Meanwhile,
more than 70 plaintiffs have filed a lawsuit against BioPort and the former
vaccine manufacturer, the Michigan Department of Public Health. The suit, filed
in U.S. District Court for the Western District of Michigan, alleges the vaccine
caused three deaths, including the infant of a vaccinated soldier, and various
health problems in scores of others.
Root said
she could not comment on pending litigation.
Dr. Meryl
Nass, an internal-medicine physician in Maine who has closely followed the
anthrax vaccine program, said vaccinated people are developing auto-immune
diseases such as rheumatoid arthritis, reactive arthritis and lupus, which cause
musculoskeletal pain. Others develop fibromyalgia and chronic fatigue syndrome
whose causes are unknown but also may cause similar musculoskeletal pain and
fatigue.
Nass said
further study on the vaccine by an independent organization outside the Defense
Department is needed.
Root said
BioPort supports ongoing research into the safety and efficacy of the vaccine.
Moses Lacy
said he needs no further evidence. His daughter called him in March to tell him
she had chest pains and breathing problems and had been diagnosed with
pneumonia.
I talked
with her a day or two later and she said, Dad, Im hurting all over. Im
walking like an old person, he recalled.
Rachael
absolutely loved serving in the reserves, he said, and had talked of
re-enlisting. He had been the one to suggest she join the reserves and was
pleased she enjoyed it so much.
Now,
however, he feels guilty.
I wonder,
he said, if I wouldnt have been so persuasive, if she would be alive today.
Reuters
Health - Britains Department of Health said on Tuesday that thousands of
children might be at risk of measles, mumps and rubella because two private
clinics had not followed correct immunization procedures.
In an urgent
message to all family doctors, the department said all children who received the
three vaccines separately at the clinics should be re-immunized with the
combined measles, mumps and rubella (MMR) jab.
The present
estimate is that this could involve up to 40,000 immunizations going back over a
10-year period, said Dr. David Salisbury, head of the departments immunization
and communicable disease team.
There has
been significant demand for single vaccines for measles, mumps and rubella in
Britain following controversial research suggesting that the combined MMR
vaccine might be linked to an increased risk of autism.
Officials
have repeatedly said the research was flawed, but some parents were not
reassured and began paying private clinics for the single jabs.
Salisbury
said the two clinics involved in this case, at Elstree Aerodrome in
Hertfordshire and Hillsborough Arena in Shieffield, had closed, as they were not
registered with the National Care Standards Commission.
The problem
with the single vaccines came to light earlier this year, but at the time it was
believed that just over 1,000 children had received vaccines that were not
properly made up or administered during the second half of 2002.
More
information has now become available showing that aberrant immunization
practices dated back before last summer.
Our two
greatest concerns are that the clinics had not followed the correct procedures
recommended by the manufacturer for making up and administering the vaccines,
Salisbury added in his letter.
One worry is
that the vaccines were made up in a way that might have made them less effective
than normal.
This means
that some children who have been vaccinated may not be adequately protected
against one or more of the diseases for which they received the vaccine,
Salisbury said.
He said a
second concern is that the vaccines could have been contaminated because of the
way they were prepared.
This could
have increased the risk of children suffering bacterial infections from the
immunization, or greater side effects to the vaccines.
Parents
whose child had suffered an infection or adverse reactions after receiving the
vaccines should inform their doctor so that the reaction could be reported to
the Committee on Safety of Medicines.
The health
department said that starting tomorrow it would use advertising and the media to
advise parents who had used the two clinics to have their children properly
re-vaccinated with the triple MMR jab.
This
applies whatever age your previously vaccinated child is now. You should see
your GP about arranging this.
Adam Holman
was 2 years old before he uttered his first word, and 3 before people could
understand what he was saying. He spoke later than many kids, but not terribly
late, his parents figured.
In school,
Adam didnt have many friends. He missed important social cues, droning on about
a subject, for example, even if other kids rolled their eyes or walked away.
Not everyone
makes friends easily, his parents told themselves.
At home in
Naperville, Adam became extremely agitated if someone sat in his spot at the
kitchen table or the family car.
Just
stubborn, his parents believed.
We just
thought this was how he was, said his mother, Jill Holman. We worked around
his idiosyncrasies and unusual behavior.
It wasnt
until sixth grade that a teacher noticed that Adams behavior was beyond
unusual. He wouldnt make eye contact with other classmates. If math lessons
extended past the regular period, he couldnt focus on anything for the rest of
the day. His strange behavior alienated other students, who didnt invite him to
join in their activities.
A child
psychologist evaluated Adam and finally put a name to the boys collection of
odd ways: He had Asperger syndrome.
I said,
Whats that? Jill Holman remembered.
Its a
question more people are asking as increasing numbers are given the relatively
new diagnosis, which often is considered a high- functioning form of autism.
Asperger
also is gaining more recognition with the creation of support groups and books
like the newly released Finding Ben, which details a mothers struggle to
understand her son.
Despite the
growing awareness, Jill Holman thinks people need to learn more about the
so-called little professor syndrome so they can understand the odd kid in
class.
I hope
people will have a little more empathy that these children are not doing it to
get attention or to be difficult, she said. They simply function differently
than the rest of us do.
Few or no
friends What sets people with Asperger apart is their extreme inability to
interact socially. Some people might assume thats not so debilitating. After
all, whats so bad about a kid who relates better to books and computers than to
people? In fact, social skills are huge.
Childhood
competence with peers and friends is a significant predictor of how well kids
do later on in life, said Willard Hartup, a professor emeritus at the Institute
of Child Development at the University of Minnesota.
Researchers
arent the only ones to recognize the value of sociability. In polls, people say
social skills and personal character are more important components of career
success than academic achievement, according to the opinion research firm Public
Agenda.
People with
Asperger also are very literal, and dont get it when people are being sarcastic
or humorous.
The first
time I called him dear, he looked at me and said, Mom, do I have antlers
coming out of my head? Jill Holman recalled.
Other traits
of the disorder include clumsy and uncoordinated movements, limited interests or
a preoccupation with one topic and repetitive routines. As a result, a person
with the malady will often get wrapped up in his or her own world and talk
nonstop about one subject.
They also
can have a limited repertoire of facial expressions, be hypersensitive to loud
noises, odors or food textures, become extremely agitated in new situations and
be exceptionally disorganized.
People with
Asperger can be highly intelligent, though, which often can mask the disorder
and cause it to be misdiagnosed or not diagnosed at all.
These kids
look normal, Jill Holman said. But they dont function normally.
Diagnoses
increasing Figures vary widely, but experts estimate as many as 1 in 300 people
has traits of Asperger, a syndrome identified in 1944 by a Vienna doctor but
recognized in the United States only since 1994.
Part of the
reason no precise numbers exist is because experts dont universally agree on
exactly where Asperger fits in the spectrum of neurological diseases. Some
researchers say it is a form of autism, while others classify it as its own
developmental disorder.
The jury is
out, said Ami Klin, an expert on Asperger and an associate professor at Yale
Universitys Child Study Center. There is no answer, even in science.
There is no
known cause, but genetics plays a role, he said. Doctors diagnose Asperger based
on a behavioral evaluation and Klin said theres been a significant jump in the
number of cases.
Mirroring
the national trend, theres also been an increase in the number of Illinois
students identified as having some kind of autism disorder, under which Asperger
is categorized.
In 1997-98,
there were 2,305 autistic students. By 2001-02, the most current data available,
their numbers had increased more than 50 percent to 5,175, according to the
Illinois State Board of Education.
Despite more
growth, many teachers still might not be familiar with the unusual behaviors the
syndrome spawns.
They can be
viewed as rude, stubborn and willful when in reality its their disorder that
causes the problems, said Barbara Kirby, author of a guidebook on Asperger.
They are misunderstood, misdiagnosed and mistreated.
Barbara Sims
of the Illinois education board has seen that kind of misunderstanding. One
17-year-old student she worked with was sent to a school for children with
behavioral problems after he threatened others and refused to go to gym class.
It was
assumed it was a power struggle by a kid with an emotional problem, she said.
They tried to force him into doing it.
Later, it
was learned the teen had Asperger and felt overwhelmed by the noise and
commotion of gym. He then was moved back into the regular school and provided
with special education services.
Treatments
can help Adam Holman, now 14, knows what its like to be misunderstood.
Kids made
fun of me, he said.
And few of
them want to be his friend, though he says he doesnt mind. (Others with
Asperger do crave friendships).
I dont
like to be around a lot of other people, said Adam, who in the fall will be a
freshman at Neuqua Valley High School in Naperville. It really annoys me.
Instead, he
prefers to be alone, playing video games or learning encyclopedic amounts about
a particular topic. He has become fascinated - almost obsessed - first with
trains, then weather. Now he has a voracious interest in volcanoes. But more
than being interested in something, he wants to talk about it constantly, long
beyond when others have lost interest.
Hes also an
extreme perfectionist.
For example,
if he makes a mistake at the bottom of a whole page hes written, he cant just
erase it. He has to start from scratch, even if it means staying up hours beyond
his bedtime.
His mother,
Jill Holman, said she tried for years to force her son to adapt and become more
flexible - at one point, she eliminated yeast from his diet to see if that would
change his behavior - unaware that he was incapable of acting any other way.
I fought
it, she said. I tried to make him conform.
She also
blamed herself - maybe she had taken a wrong turn in her parenting? As a
mother, I really felt like I had done something wrong with him, she said.
When the
family finally found out what made Adam different, it was a relief.
It all made
sense, she said. It was like a huge weight lifted off my shoulder. I could
explain it. I knew what he had and I knew why he was different.
Still, she
wishes Adams problems had been diagnosed earlier.
It sure
would have helped, she said.
Once the
disorder was confirmed, both school and home life became less difficult, she
said.
For
instance, Adam now gets to leave class a few minutes early so he has time to
place each item in his backpack in a specific order. Otherwise, he might become
so agitated that he cant take notes or follow directions in his next class. And
teachers have stopped thinking Adam is just being obstinate when he forgets a
book or assignment. They also understand when he insists on using a certain pen
or pencil, or on sitting in a particular location.
At home, his
13-year-old brother Drew is learning not to spread his papers too far onto
Adams side of the table, lest it cause a meltdown.
To help
other families, Holman last year started her own support group for parents of
kids with Asperger.
Its such a
relief to talk to somebody who knows what you are going through, she said.
There is no
cure for Asperger, but people suffering from the syndrome can get help through a
variety of treatments aimed at developing relating skills. They can be taught
social and real- life skills, as well as how to be better organized and how to
handle their anxieties, Klin said.
Adam Holman
is undergoing a range of those treatments and his parents hope that he will be
able to someday lead a normal life: go to college, get a job, even marry. But
nothing is certain.
Said his
mother, We dont know exactly what the future holds for Adam.
Malden,
Mass. - Police in Malden are investigating the circumstances that led to the
drowning of a 5-year-old boy with autism.
Kagua Njenga
was found Tuesday night floating face down in the swimming pool of an apartment
complex on Main Street. Malden is north of Boston.
Sgt. Mark
Mullaney said when the first rescue units arrived, they were met by a group of
people who directed them to the pool. But police are puzzled as to why --
apparently -- none of those people tried to go into the pool to get the boy out
before officers and emergency medical technicians arrived.
Also unclear
is how the boy wound up in the fenced-in pool. An aunt told police that the
boys mother left him with a neighbor who frequently watched him. The neighbor
told police that the boy walked into her apartment last night but left quickly.
She also said no one ever asked her to watch the youngster.
Mullaney
said the drowning appears to be accidental and charges are unlikely.
Copyright
2003 by The Associated Press. All rights reserved.
Raritan
Township, N.J. -- A 4-year-old boy with autism was left on a school bus for five
hours in Mondays 90-degree heat, and the bus driver has been charged with child
neglect, authorities said.
The boy,
whose name was not released, was among a group of students in a summer program
for children with disabilities sponsored by the Hunterdon-Raritan School
District, said Capt. Glenn S. Tabasko of the Raritan Township Police Department.
Tabasko said
the boy was treated at a hospital for heat exhaustion and released.
Tabasko said
the boy was left on the bus inadvertently at 8 a.m., after the driver, John
Davis, 57, of Readington, dropped children off for the programs morning session
at the Copper Hill School in Raritan.
Davis then
parked the bus in the districts transportation yard. He returned at 1 p.m. for
his afternoon run.
Of course,
he didnt realize the kid was on the bus, Tabasko said.
The child
was discovered by Copper Hill School personnel who were helping students board
the bus for the ride home.
School
Superintendent Jack Farr said in a statement Wednesday that the school board
could act on his recommendation that the driver be fired at its meeting on July
21.
It is the
drivers responsibility to check the bus after dropping children off and before
picking them up, Farr said in the statement. Any driver leaving a student on a
vehicle shall be terminated.
After his
arrest, Davis was released pending a July 25 hearing on the child neglect
charge.
Davis was
not listed in directory information, and Tabasko said he did not know whether a
lawyer had come forward to represent Davis.
Copyright
2003 by The Associated Press. All rights reserved
* * *
LETTERS
Ask: What Caused
That?
This morning
I received the results of Ians upper and lower gastrointestinal biopsies. It
was not happy news, but it will help us towards taking action to help our son
further. Since the news saddened me, I thought that I would write.
I want to
share my feeling that educators and doctors who mislead parents about the real
physiological issues facing children with autism, and who disrespect the
parents efforts to seek quality help in this direction, are doing a disservice
to the children who are affected. For example, gastrointestinal issues are not
to be nonchalantly regarded as part and parcel of autism. The autism is not
some disembodied entity that brought with it, lock, stock, and barrel,
gastrointestinal issues. Educators and doctors need to look at how the
condition and symptoms of autism -- too often primarily attributed to the psych
realm -- are made manifest and/or exacerbated BY the gastrointestinal symptoms.
Educators and doctors need to be aware that the gastrointestinal malfunctions
were caused by something that went physiologically awry. And then the question
needs to be asked, What caused that?
The
transcript included: Does a childs diet have anything to do with ADHD? Dr.
Spencer: Your question about diet was actually formally studied. Everybody had
the impression that diet was closely related. If diet was to be a cause of the
problem, then if you changed diet, then people would get better, and it hasnt
been shown to be true. Kids with ADHD tend to crave junk food and sugar.
They eat
poorly. If you eat a lot of sugar, youre a little more hyper, but even if you
exclude sugar and all these additives and eat a very bland, difficult-to-enforce
diet, you dont improve that much. That was actually tested. There were lots of
double-blind controlled studies of that. The American Academy of Pediatrics
wrote a position statement saying that there may be a few sensitive individuals,
but by and large, diet isnt a good treatment for ADHD, and its not usually
part of the cause.
Response:
Science. 1980 Mar 28;207(4438):1485-7. Food dyes impair performance of
hyperactive children on a laboratory learning test. Swanson JM, Kinsbourne M.
Forty
children were given a diet free of artificial food dyes and other additives for
5 days. Twenty of the children had been classified as hyperactive by scores on
the Conners Rating Scale and were reported to have favorable responses to
stimulant medication. A diagnosis of hyperactivity had been rejected in the
other 20 children. Oral challenges with large doses (100 or 150 milligrams) of a
blend of FD & C approved food dyes or placebo were administered on days 4 and 5
of the experiment. The performance of the hyperactive children on
paired-associate learning tests on the day they received the dye blend was
impaired relative to their performance after they received the placebo, but the
performance of the nonhyperactive group was not affected by the challenge with
the food dye blend.
DISCLAIMER:
All information, data, and material contained, presented, or provided here
is for general information purposes only and is not to be construed as
reflecting the knowledge or opinions of the publisher, and is not to be
construed or intended as providing medical or legal advice. The decision
whether or not to vaccinate is an important and complex issue and should
be made by you, and you alone, in consultation with your health care
provider.
"A foolish faith in authority is the worst enemy of truth."
-- Albert Einstein, letter to a friend, 1901
"I know of no safe depository of the ultimate powers of the society but the people themselves, and if we think them not enlightened enough to exercise control with a wholesome discretion, the remedy is not to take it from them, but to inform their discretion by education."
-- Thomas Jefferson, letter to William C. Jarvis, September 28, 1820
"What's the point of vaccination if it doesn't protect you from the unvaccinated?"
-- Sandy Gottstein
"Who gets to decide what the greater good is and how many will be sacrificed to it?"