FEAT DAILY NEWSLETTER Sacramento, California
and THE AUTISM NETWORK
http://www.feat.org
"Healing Autism: No Finer a Cause on the Planet"
________________________________________________________________
March 19, 2002 Autism Database Search
www.feat.org/search/news.asp
CARE / ADVOCACY
* Autistic/Retarded Boy Sits in Jail, Charged Attempted Murder, Clueless
* New Hampshire Aspie Teenager Charged In Threat On Bush
* Parent Laments Lack Of Services For Autistic Children in Hawaii
* Drug Co. Knew Thimerosal Was Dangerous in 1930; Cooked Study
RESEARCH
* Genetic Anomilies Found in Some Autism, Angelman's Syndrome
* Genetic and Immunologic Considerations In Autism
* Gene FOXP2 for Autism or Specific Language Impairment Ruled Out
Autistic/Retarded Boy Sits in Jail, Charged Attempted Murder, Clueless
"It is important that his whole story be told, from
the beginning, to recognize that this is the result of
the failure of the diagnostic and treatment services for
children with disabilities and not a failure of his family
to take appropriate action
"
[Many of the things mentioned in this article can happen to any autistic
child. LS. By Nancy Fellmeth, President of FEAT.]
This is the true story of a family who went to bed on June 24, 2001 as the
parents of a teenage son with autism, and woke up June 25 as the parents of an
inmate at juvenile hall, charged with attempted premeditated murder and looking
at the prospect of life in prison. Nine months later, a fifteen-year-old boy has
turned sixteen, with nothing to celebrate, in the sparse confines of his
monitored cell in Juvenile Hall. During this time, he has received no
specialized medical, psychological, behavioral, or educational treatment. He
spends most of his days reading Junior novelizations of movies; books that still
have pictures and are written at a fourth grade level.
He goes to class with the other inmates, but the curriculum is not adapted
for his needs. It seems that his IEP stopped the minute he entered Juvenile
Hall. Fortunately, the staff at Juvenile Hall have been protective of him,
unfortunately, they havent been with him at the Courthouse during the four
times he has been physically assaulted and sexually threatened by the other
inmates. David Maggi has the mental age of an eight year old and the adaptive
skills of a five year old. David Maggi is being charged as an adult with
attempted premeditated murder, and the consequences of a conviction will be life
in prison.
How could this happen, here in Sacramento where so many quality services are
available through public agencies for treatment? Davids story is about what
happens when a child falls through so many cracks that he eventually lands in a
crevice from which it is difficult to get out. This is a tragic consequence of
fifteen years of inadequate services and is a reminder to us all that prompt
diagnosis and effective, early and ongoing intervention is needed for all
autistic children. Let this be a seminal event for all who care about children
with autism so that Davids story will not be repeated. It is important that his
whole story be told, from the beginning, so that each of you who reads this will
recognize that this is the result of the failure of the diagnostic and treatment
services for children with disabilities and not a failure of his family to take
appropriate action on his behalf.
David began life in the Bay area bedroom community of Castro Valley, in 1985,
moving to Antioch the next year. His parents became concerned about David
beginning at six weeks of age when he had no eye contact. A few weeks later, a
neurologist found the test results to be inconclusive and what followed over the
next eleven years was a series of missed opportunities despite the familys
constant search for answers. The family was time and again given the all too
familiar pat on the back from the pediatrician who told them David was just a
late bloomer. Finally, at age four, Davids delays were validated during a
routine screening for speech and language problems at the preschool he would be
attending. Still, his physician did not refer him for speech therapy, though he
now qualified for special education.
The Antioch School District labeled him Developmentally Delayed and offered
to place him in a class of children with Downs Syndrome. This was all they had
to offer in 1989, so his parents elected to enroll him in a private preschool
instead. After a year, Davids parents, John, a tax accountant, and Joan, a
pediatric nurse, realized this wasnt a beneficial placement, so they moved him
to a private school for children with learning disabilities, where he remained
until third grade when the family could no longer fund the program. He returned
to public school special education, where, inexplicably, despite odd and
impulsive behaviors, and obvious global delays, the word autism was never
mentioned by the school staff. Neither the school, nor his physician recommended
that David be assessed by the North Bay Regional Center. At this point, Joan and
John had never heard of the Regional Center system.
As David prepared to enter fourth grade, his parents moved to the Sacramento
area, settling in Orangevale, right about the time that FEAT was forming and
beginning to provide intensive early autism treatment in cooperation with the
Alta Regional Center. Yet once again, Davids new pediatrician and the special
education staff who saw David in the San Juan Unified School District either
failed to recognize or acknowledge the autism. By now, eleven years had passed
during which Davids parents expressed concern to all of the right people and
yet were continually misled, perhaps due to the professionals unfamiliarity
about autism, or maybe their arrogance and unwillingness to listen to the
concerns of a lay person, the parent.
Another year would pass before Davids pediatrician finally referred him to a
pediatric neurologist at Kaiser Vallejo who diagnosed David with autism,
expressing to Joan his surprise that no one else had noticed, since the
diagnosis was so obvious. He sent the family to the Alta Regional Center where
David qualified for services with a label of PDD-NOS.
Now that David was labeled PDD-NOS, with mental retardation, it would seem
that the appropriate services could begin, but once again the system failed. His
parents were given no guidance, and no information about FEAT. They had no idea
where to turn to find out what services he would benefit from and how to get
them.
At last, at age eleven, some action was taken when his Alta caseworker
approved a contract with ABC for behavioral services to establish a morning and
evening routine at home. While this was not intensive intervention, the
suggestions did help. Unfortunately, it ended after three months and the family
was told that this was all that was available. His parents continued to use this
limited training experience to manage Davids increasingly difficult behaviors,
but eventually their token system no longer worked.
His Alta workers only offer of services to address the familys concerns
about Davids low adaptive skills was a program to teach him to ride the public
bus. He put the responsibility back onto the public school to teach life skills.
By age 13, David still could not brush his teeth independently, did not have age
appropriate grooming skills, and was increasingly anxious and difficult to
control at home, and yet he received no functional/adaptive/behavioral program
through the Regional Center and was enrolled in a Learning Handicapped program
in San Juan Unified that did not address these life skills needs either.
In seventh grade, the situation deteriorated and the early signs of serious
problems became evident. The Learning Handicapped program David had been placed
into by the IEP team was discontinued over the summer, but no alternative plans
were made for David. He ended up with a placement in various resource classes
with his afternoon spent with the Learning Handicapped teacher as she taught a
number of classes. One of these was drama, which David enjoyed, given his
interest in movies.
However, the Resource program was ill prepared to handle a child with autism
and mental retardation so Davids parents requested an aide to help him be more
successful. The School District refused, instead sending in an untrained student
volunteer from Casa Robles High School to occasionally help.
As David became increasingly reliant on Ritalin to maintain his behavior in
school, the rebound at home after the medicine had worn off was becoming more
trying on his family, with increases in tantruming. He became difficult to take
out in public, and at one point, his older brother told his mother his life
ended when Davids began. This is the year when David started hearing voices.
His parents reported that he was acting out fantasies in his bedroom and
requested that the Alta psychologist come to observe it, but she seemed
uninterested. David described that pesky conscience voice to a Kaiser
Psychologist, who brushed off the Maggis concern. He was wrong. The voices were
real to David.
Davids outlook improved in eighth grade when his parents moved him to
Carnegie Middle School, a school within the district that had more experience
with special education. He was placed into an Independent Living Skills (ILS)
class, which seemed more appropriate for his needs. But this success was brief.
The following year he began his downward spiral unable to cope with the stress
of high school, though he continued with the ILS placement while at Bella Vista
High School.
His physician prescribed more medications to control that anxiety. David
became aggressive and increasingly retreated to a fantasy world of movies and
television in which he could replay entire scenes from memory. He fed this
interest in movies by reading scripts from the shows and junior novelizations of
the movies.
While typical children who act out fantasies can distinguish between reality
and fantasy, David was not typical and miles away from reality when he began to
perseverate on thoughts he could not turn off, so that they continually
replayed in his mind. His family became increasingly worried about his bizarre
behavior and turned to Kaiser for help. A psychologist worked with him one time
a week, but by now, David was experiencing serious psychotic episodes. Though
significantly delayed for his age, Davids verbal skills expressed his
ever-increasing suicidal and homicidal thoughts, and he was begging his family
for help because he was afraid that he would hurt someone.
The family repeatedly asked the Kaiser psychiatrist to hospitalize David for
therapy, and he repeatedly answered that there wasnt a hospital that could help
David. Finally, a Kaiser social worker took Joan aside and told her where to get
help for David and this led to five hospitalizations for psychiatric observation
between December of 2000 and May of 2001. Each time in the highly structured
setting he would improve and be released without any game plan for extensive
follow-up treatment. In some cases, David was back in the hospital after weeks,
one time he was back after six hours. Davids parents realized that they did not
have the training to manage his emerging psychosis.
By now their last resort was to ask the Regional Center to place David in a
secure, structured environment with 24 hour a day behavioral services. The
Maggis asked Alta for the placement in December, but the meeting to determine
placement didnt occur until April, four months later. Joan recalls that each
time she contacted her sons caseworker about the delays, it was as if it was
the first time he had heard of the request for placement.
While waiting for the secure placement, David was hospitalized again, this
time at Heritage Oaks, where the Psychiatrist took David off of all of his
medications, feeling that they were contributing to his behavior excesses. Still
neither his Kaiser physicians nor Alta had a clear plan for ongoing treatment.
Alta paid for extra days at Heritage Oaks while waiting for an opening at High
Desert Haven, the facility Davids family had chosen. By May he had a temporary
placement in a group home in Natomas. His parents visited the home and were
assured verbally and in writing that there would be continuous 24-hour
supervision. The facility was just trying to get to know him, working on life
skills. No behavioral program had been previously set up to effectively treat
his increasing anxiety and none was designed for David in this new placement.
Sometime during the weeks he stayed at the group home in Natomas, David
watched an episode of Americas Most Wanted. It was one of his favorite shows
and he couldnt get the story out of his mind. On the night of June 24, 2001, he
went to bed but couldnt sleep. After hours of laying awake perseverating on the
events of the show, David made the first of a series of steps that will forever
alter his life. The only way to get the story out of his mind was to reenact the
scene, just as he had seen on television.
Clearly, Davids line between reality and fantasy was blurred if not
non-existent.. The television show began rolling through his mind again. He went
to the kitchen where he took a knife from the drawer and at 2:30 A.M. just
walked out of a group home that had the highest level of security available
through the Regional Center system. It is important to note that though Alta
paid $4,880 per month to keep David securely housed, these facilities are not
locked-down.
After walking several miles, David ended up at a Natomas shopping area, knife
in hand. What happened next is not disputed by either side in this tragic case.
David approached a woman, stabbed her one time in the middle of the back and
later waited calmly for the police to arrive, just as they had on TV. The blade
came within inches of seriously wounding an innocent young mother. He was acting
out his television fantasy, and when the police arrived, he played the role of
the bad guy very convincingly. He expressed no remorse for his actions and told
the police that he still needed to finish her off.
The police recognized that David was no ordinary criminal as he was talking
like a character in a bad grade B gangster movie. After reading David his
Miranda rights, they asked him if he was under the care of a doctor or was
hallucinating. David, who had been cooperative until that point, acting out his
role, shut down, because this wasnt part of the script, and he didnt have an
answer. David encountered well-trained police officers that recognized that he
had a disability. In other cases, autistic persons have been killed because
their failure to comply with police directives appeared threatening.
The victim was released from the hospital the following day. Davids family
does not dismiss the terror that his random act of violence caused to the victim
or her family. His parents are asking that David receive appropriate therapy in
a safe setting to address his anxiety and other needs.
David is autistic, mentally retarded, suffers from bi-polar disorder and
appears to have experienced several psychotic episodes over the past few years.
Could David possibly understand the gravity of his actions? No, because
fundamentally, all persons with autism lack theory of mind; they have
difficulty recognizing that people have a perspective and feelings different
from their own. David thinks like an eight-year-old boy. He does not reason like
an adult or even an adolescent. He has told his parents that he knows that he
has done something wrong because this is the worst consequence hes ever had.
After one court appearance, he asked his mother if she noticed that he took a
drink of water from the pitcher on the defense table. When she asked why, he
remarked that this is what youre supposed to do, Ive seen it on TV. How
could anyone believe that this child could premeditate the murder of a random
victim? When is reason going to take over?
The District Attorneys office has been presented with many arguments that
favor charging David as a juvenile, but the District Attorney has refused to
change their position. Both sides seem to agree that what David needs is
hospitalization for several years at a high security developmental center.
Both sides are now talking of Porterville, which has a forensic unit that
houses developmentally delayed patients and the staff to provide him with
on-going therapy. Davids parents just want him to finally get the therapy he
needs to manage his anxiety and rid his mind of the pesky little voices that
protected him from the outside world that he does not fully understand.
However, if David is tried as an adult for attempted premeditated murder, and
is convicted, he will have a felony record and will no longer be eligible for
placement in group homes contracted with through the Regional Center system. If
David is convicted, he could be sentenced to life in prison, in which case he
could not be eligible for release for many years, and could be left in the
prison system for life.
Then where will David go when and if he is eventually released? How would he
continue to receive behavioral treatment? Certainly the mental health system
isnt going to fill that void; the streets are full of homeless people who have
failed to be served by that system. If he stayed at home, one of his parents,
who are divorced, would have to quit work to care for David since he is not
capable of caring for himself. When David was home schooled for several months
before moving to a non-public school, his mother had to take a leave from work
to care for him 24 hours a day, because Alta was unable to find respite help to
cover her during working hours.
Would David remain in the developmental center, a highly restricted
environment for the remainder of his public education? A lot rides on whether
David in convicted in adult court of a felony or whether criminal procedures can
be suspended so David can start receiving the help he so badly needs. Meanwhile,
David sits in Juvenile Hall, becoming more confused and stressed. He is a child
in a young mans body who has to be reminded to shower and change his clothes.
What happened to David could happen to other autistic teens as well. This is
the message Joan Maggi wants to share with our readers. If your gut tells you
something isnt right and that you should be doing something elsethen you
should do it. I wish I had just driven him to High Desert Haven myself. David
could be anybodys child
he was the center of our lives. We thought that we were
doing everything we could. I thought that the agencies were doing the right
thing. I thought this only happened to parents who didnt care. Those that
should have protected him should be held accountable.
There is something that you can do to help David and it is as simple as
sending a letter to his attorney at the address printed below. He can show these
to the judge as an indication of public concern. Address the letters to whom it
may concern. In the letter you should ask the court to show compassion for
David because he has autism, a developmental disability that impairs his ability
to reason and to understand the feelings and thoughts of others. It is cruel and
unusual punishment to hold a person with autism accountable as you would a
neurologically typical person. David has the mental capacity of an eight year
old and the adaptive skills of a five year old, and thus should not be charged
or tried as an adult. In addition, since David lacks the cognitive skills to
logically reason, he could not possibly form the intent to commit murder and
therefore the charge of attempted premeditated murder is completely unwarranted.
Letters can be sent to: Bob Blasier, Attorney at Law
3600 Piedra Montanta Rd.
El Dorado, Hills, Ca. 95762
Also, to help defray the extensive legal bills, a Legal Defense Fund has been
set up. If you wish to donate, checks should be made out to: David Anthony Maggi
and sent to:
W ells Fargo Bank
8870 Madison Ave.
Fair Oaks. Cal. 95628
Atten: David Anthony Maggi Defense Fund
Please take the time to write a letter, yours may be the one the sways the
courts mind.
* * *
New Hampshire Aspie Teenager Charged In Threat On Bush
www.boston.com/dailyglobe2/077/nation/Fighting_Terror_in_brief+.shtml
(AP) - A young man arrested in January after claiming he sent anthrax to the
Senate majority leader, Thomas A. Daschle, Democrat of South Dakota, may be in
deeper trouble. Elijah Peter Wallace, 18, of Brentwood has been indicted by a
federal grand jury on a charge of threatening the president. The crime is
punishable by five years in federal prison and a fine of $250,000. Wallace
already was being held in Rockingham County Jail in Brentwood on the earlier
charge and a charge of burglary.
The federal indictment accused Wallace of writing a threatening letter to
President Bush on Feb. 16 and mailing it to WMUR-TV in Manchester, which
forwarded it to the US Secret Service office in Manchester. The letter said Bush
must die because he has declared war on all antigovernment groups. An
investigation failed to turn up any of the letters Wallace said he sent to
Daschle and others. Wallace's father contends that his son suffers from a form
of autism and needs counseling.
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* * *
Parent Laments Lack Of Services For Autistic Children in Hawaii
Grossman compares what families with autistic
children face every day to the Sept. 11 terrorist
attacks. "That constant state of crisis is what
they live with" he said.
Lee Grossman began his involvement with the
Autism Society of Hawaii after his son Vance was
diagnosed with it in 1991. Grossman has been elected
president of the Autism Society of America. The
Grossman family includes wife, Nina; Aaron, 3;
Lee; Chad, 16; and Vance, 14.
[By Pat Gee pgee@starbulletin.com ]
The top child psychologist in the state told Lee Grossman on Dec. 30, 1991,
that his son was severely retarded. It is something Grossman will never forget.
The psychologist told him: "The best you can hope for is, he will be happy.
That's all I can offer you. Happy New Year," Grossman recalled.
"In less than a minute, he dismissed me," Grossman said, noting these stories
are commonplace in the life of autistic children.
His son Vance was later diagnosed with autism, a neurological disability that
affects communication and social interaction.
Stunned and heartbroken, Grossman, a Honolulu business owner, turned to the
Autism Society of Hawaii for help and found "a tremendous fellowship" with the
"most passionate, most involved, caring and supportive" people.
He started as a parent searching for answers to help his child, and his
involvement has grown to the point that Grossman has been elected national
president of the Autism Society of America.
"We can't be advocates anymore; we have to become activists," he said of the
24,000 members who make up the national organization.
Grossman, past president of the society's Hawaii chapter, has been a member
of the national board of directors the past six years, the last four serving as
first vice president. He has been involved with the Felix class-action lawsuit
here from its inception.
"I am totally overwhelmed by the startling statistics" on the growth of
autism, he said.
"It's a crisis we're in," he said, adding, "2002 will be a breakout year for
autism. We have to make this a national issue."
He said: "It is the most underfunded disability of America. The number of
those diagnosed with autism exceeds those diagnosed with AIDS."
In Hawaii the state Department of Education reported 71 pupils with autism in
1994; in 2000 there were 276, nearly quadruple the original number in six years,
he said. In the last five years, there has been a "triple-digit percentage
growth all over the country," he said.
Grossman compares what families with autistic children face every day to the
Sept. 11 terrorist attacks.
"That constant state of crisis is what they live with," he said. "There's
nothing for us to grasp onto. Services are virtually nonexistent. It's not easy
living with an autistic person.
"What we really need is to get help for the kids, their families and
caregivers; 150,000 people with autism (in this country) need help."
And because Grossman is still living it, "It's very easy for me to get wound
up, to get passionate about it," he said.
Autistic children, he said, need early diagnosis and intervention, behavior
management, speech and occupational therapy, socialization programming and
vocational training in their early teens. These services need to be maintained
with "intensity," he said.
The Hawaii Autism Society was instrumental in starting and eventually winning
the Felix lawsuit against the state for improved educational services on behalf
of all special-needs youngsters, he said.
"But Felix is a dismal failure in my eyes," Grossman said, adding that there
is no real improvement in services even though the state is moving toward
compliance with the federal mandate.
"Basically, it's been a paper compliance," he said. "I'm so frustrated about
what's been going on here. Felix is a lost battle. There is very little change
we can affect locally at the school level. ... We tried to change the system. We
filed a lawsuit that we thought could help us, but it hasn't."
* * *
Drug Co. Knew Thimerosal Was Dangerous in 1930; Cooked Study
[Law Firm issued press release.]
Documents clearly demonstrate that Lillys thimerosal product, the
mercury-based vaccine preservative implicated in a number of recent law suits as
causing neurological injury to infants, was known as early as April 1930 to be
dangerous. The Dallas-based law firm of Waters & Kraus announced Monday that it
has received these documents that come from the archives of Eli Lilly & Company
as a result of the discovery process in the case of Counter v. Eli Lilly &
Company, et al, currently pending in Brazoria County, Texas.
In its apparent eagerness to promote and market the product, in September,
1930, Eli Lilly secretly sponsored a human toxicity study on patients already
known to be dying of meningococcal meningitis. Senior partner Andrew Waters
stated that, Lilly then cited this study repeatedly for decades as proof that
thimerosal was of low toxicity and harmless to humans. They never revealed to
the scientific community or the public the highly questionable nature of the
original research.
While Eli Lilly made every effort to corrupt the medical and scientific
literature, the process of arranging to publish the results of its questionable
secret study, other researchers have provided Lilly with numerous articles since
the 1930s indicating concerns about thimerosal and its potential hazard to
humans who might be exposed or injected with the substance. The evidence clearly
demonstrates that Eli Lilly was advised repeatedly that their conclusions of low
toxicity were not warranted and that they failed to pass the information on to
appropriate federal and public health authorities. The following time line
illustrates some, but by no means all, of the documentary evidence on this point
from Lillys internal files:
1947 Article received by Lilly: No eruptions or reactions have been
observed or reported to merthiolate internally, but it may be dangerous to
inject a serum containing merthiolate into a patient sensitive to merthiolate.
1948 Article received by Lilly: Merthiolate is such a commonly used
preservative for biologicals, plasma, cartilage, etc., that it would seem
important to determine whether harm would result following its subcutaneous or
intravenous injection in skin sensitive individuals.
1950 New York Academy of Science article, Mercurials as
Antiseptics: It (merthiolate) is toxic when injected parenterally and
therefore cannot be used in chemotherapy.
1963 Article received by Lilly: There is another point of practical
significance: does the parenteral injection of merthiolate-containing fluids
cause disturbances in merthiolate-sensitive patients? It is known that persons
that are contact sensitive to a drug may tolerate the same medications
internally, but it seems advisable to use a preservative other than merthiolate
for injections in merthiolate-sensitive people.
8/17/67 Medical/Science department requests that the claim
non-toxic on thimerosal labels be deleted in next printing run.
8/29/67 Draft label changed to non-irritating to body tissues,
non-toxic omitted.
1972 British Medical Journal reports case of skin burns resulting from
the chemical interaction of thimerosal and aluminum. Mercury is known to act
as a catalyst and to cause aluminum to oxidize rapidly, with the production of
heat. The manufacturers who supply us with thimerosal have been informed.
[Thimerosal is being used in vaccines which also contain aluminum].
1972 Article received by Lilly: Merthiolate in vaccines caused six
deaths The symptoms and clinical course of the six patients suggest
subacute mercury poisoning.
4/27/76 Lilly responds to Rexall Drug Companys efforts to place the
following warning on Merthiolate product: Frequent or prolonged use or
application to large areas may cause mercury poisoning. Lilly objects to this
proposed warning, stating:
We object to the connection of our trademark with the unjustified alarm and
concern on the part of the user which the statement is likely to cause
. We are
not aware of any instance of mercury poisoning after decades of marketing this
product. This is because the mercury in the product is organically bound
ethylmercury as a completely non-toxic nature, not methylmercury.
1/5/82 FDAs advance notice of proposed rule making regarding
thimerosal:
At the cellular level, thimerosal has been found to be more toxic for human
epithelial cells in vitro than mercuric chloride, mercuric nitrate, and
merbromim (mercurichrom). It was found to be 35.3 times more toxic for
embryonic chick heart tissue than for staphylococcus areus. 1950 study showed
that thimerosal was no better than water in protecting mice from potential fatal
streptococcal infection.
The Panel concludes that thimerosal is not safe for OTC topical use because
of its potential for cell damage if applied to broken skin and its allergy
potential. It is not effective as a topical antimicrobial because its
bacteriastatic action can be reversed.
4/7/83 Additional language added to some Lilly labels: As with any
drug, if you are pregnant or nursing a baby, seek the advice of a health
professional before using this product.
1991 Lilly ceases manufacture/sale of thimerosal. Licensing
agreements demonstrate continued profits from the product until at least
2010.
12/8/99 Lilly MSDS regarding thimerosal:
Primary Physical & Reproduction Effects: Nervous System and Reproduction
Effects
Effects of exposure include fetal changes.
Mercury poisoning may occur.
Exposure in children may cause mild to severe mental retardation... .
Hypersensitivity to mercury is a medical condition aggravated by exposure.
CERCLA Hazardous substance toxic waste disposal.
Waters & Kraus is litigating a growing number of individual cases across the
country involving infants that sustained serious neurological injuries from the
thimerosal contained in their pediatric vaccines.
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* * *
Genetic Anomilies Found in Some Autism, Angelman's Syndrome "Human chromosome
15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons."
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11896453&dopt=Abstract <- - address ends here.
Pujana MA, Nadal M, Guitart M, Armengol L, Gratacos M, Estivill X. Centre de
Genetica Medica i Molecular - IRO, Hospital Duran i Reynals, Gran Via km 2.7,
08907 L'Hospitalet de Llobregat, Barcelona, Spain.
Six breakpoint regions for rearrangements of human chromosome 15q11-q14 have
been described. These rearrangements involve deletions found in approximately
70% of Prader-Willi or Angelman's syndrome patients (PWS, AS), duplications
detected in some cases of autism, triplications and inverted duplications.
HERC2-containing (HEct domain and RCc1 domain protein
2) segmental duplications or duplicons are present at two of these
breakpoints (BP2 and BP3) mainly associated with deletions.
We show here that clusters containing several copies of the human chromosome
15 low-copy repeat (LCR15) duplicon are located at each of the six described
15q11-q14 BPs. In addition, our results suggest the existence of breakpoints for
large 15q11-q13 deletions in a proximal duplicon-containing clone.
The study reveals that HERC2-containing duplicons (estimated on 50-400
kb) and LCR15 duplicons ( approximately 15 kb on 15q11-q14) share the golgin-like
protein (GLP) genomic sequence. Through the analysis of a human BAC library and
public databases we have identified 36 LCR15 related sequences in the human
genome, most (27) mapping to chromosome 15q and being transcribed. LCR15
analysis in non-human primates and age-sequence divergences support a recent
origin of this family of segmental duplications through human speciation. DOI:
10.1038/sj/ejhg/5200760
PMID: 11896453 [PubMed - as supplied by publisher]
* * *
Genetic and Immunologic Considerations In Autism
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11895365&dopt=Abstract. <- - address ends here.
Korvatska E, Van de Water J, Anders TF, Gershwin ME. Division of
Rheumatology, Allergy, and Clinical Immunology, University of California at
Davis, Davis, California, 95616
According to recent epidemiological surveys, autistic spectrum disorders have
become recognized as common childhood psychopathologies. These life-lasting
conditions demonstrate a strong genetic determinant consistent with a polygenic
mode of inheritance for which several autism susceptibility regions have been
identified.
Parallel evidence of immune abnormalities in autistic patients argues for an
implication of the immune system in pathogenesis. This review summarizes
advances in the molecular genetics of autism, as well as recently emerging
concerns addressing the disease incidence and triggering factors.
The neurochemical and immunologic findings are analyzed in the context of a
neuroimmune hypothesis for autism. Studies of disorders with established
neuroimmune nature indicate multiple pathways of the pathogenesis; herein, we
discuss evidence of similar phenomena in autism. (c)2002 Elsevier Science (USA).
PMID: 11895365 [PubMed - in process]
* * *
Gene FOXP2 for Autism or Specific Language Impairment Ruled Out "FOXP2 Is Not
a Major Susceptibility Gene for Autism or Specific Language Impairment."
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11894222&dopt=Abstract <- - address ends here.
Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims
V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP. Wellcome Trust Centre
for Human Genetics, University of Oxford, Oxford, United Kingdom.
The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a
transcription factor containing a polyglutamine tract and a forkhead domain.
FOXP2 is mutated in a severe monogenic form of speech and language impairment,
segregating within a single large pedigree, and is also disrupted by a
translocation in an isolated case.
Several studies of autistic disorder have demonstrated linkage to a similar
region of 7q (the AUTS1 locus), leading to the proposal that a single genetic
factor on 7q31 contributes to both autism and language disorders.
In the present study, we directly evaluate the impact of the FOXP2 gene with
regard to both complex language impairments and autism, through use of
association and mutation screening analyses. We conclude that coding-region
variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is
unlikely to play a role in autism or more common forms of language impairment.
PMID: 11894222 [PubMed - as supplied by publisher]
_______________________________________________________
APRIL 21, 2002 - 12 Noon to 5pm
THIRD NATIONAL AUTISM AWARENESS RALLY:
"The Power of ONE! I.D.E.A."
FREE and OPEN TO THE PUBLIC
www.unlockingautism.org
_______________________________________________________
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