hooray!
April 20, 2009
I can see my son maturing. He did so well today at his first day back at school. He earned all of his pennies and the teachers gave him glowing remarks after school. I am so happy and so proud. I can see my sweet little boy is back!
back to school
April 19, 2009
so my whole family came down with the flu. we have been sick for 2 weeks! and the worst thing is we had to cancel a trip to san diego and disneyland for spring break. my mom, sister, nephew and niece all flew there to spend the week with us. we weren’t able to go because we were so sick.
canceling a trip like this is difficult for any child. for my son, there is an added element of difficulty. his mind really works in patterns and expectations. he had it set in his mind that he would go to school, get a week off and go to san diego, and then go back to school again. since he hasn’t gone to san diego yet, he is having a hard time breaking the pattern and deciding that it is o.k. to not go to san diego before he goes back to school.
it is going to be an interesting week back to school. my daughter is excited to see all of her friends, she can’t wait to get back to school. my son says “i am NOT going back to school until i go to san diego”. i’ve given his teachers warning that it could be a difficult week for him. however, i don’t think he will any more difficult for them as he has been for us this past week. there is nothing worse than 1) being sick, 2) missing a great trip, 3) being holed up in a house for more than a week. needless to say, he has been bouncing off the walls. he has also become very creative this week.
one funny story - he has reverted back to doing a lot of hitting and screaming this week. so my husband has been using the “keep your body to yourself” spiel. one day my son said, “ok i’ll give you a hug, daddy”. he put his arms out and face towards my husband as if to give a hug but made sure not to touch him - being very literal about keeping his body to himself - but having that cute little smirk on his face that he gets when he’s being the little trickster.
i told him that his teachers were going to give him extra incentives to have a good week of following instructions - that if he did, he would get to go to the store and pick out a toy. he smacked himself in the head and said “oh, no”. he knows he is going to want to get the toy. but he also knows that he’s going to have to behave very well and I don’t think he wants to do that! we’ll see how tomorrow goes - back to school!
autism and exile by lisa jo rudy
April 18, 2009
I often come by some really great stories written by parents of autism. Sometimes they really resonate with me. This one just hit it right on the mark - right on the mark. Thank you Lisa Jo for writing something that describes so clearly how I have felt my experience has been as a mom of a child with autism. I wish I could write as eloquently.
Autism and exile
Lisa Jo Rudy
Autism & Parenting Examiner
April 12, 2009
http://www.examiner.com/examiner/x-2007-Autism–Parenting-Examiner~y2009m4d12-Autism-and-exile
In many faith communities, exile - sometimes called excommunication or shunning - is the worst possible punishment. In the story of Adam and Eve, exile from the Garden of Eden is the punishment for original sin.
In our more secular world, particularly for middle class Americans, community gathers less around faith than around activities. For families, those activities include family gatherings - holiday events, barbeques, family vacations, visits to Grandma’s. For mothers, those activities often include play groups, playground visits, PTAs and round-trips to afterschool activities. For fathers, those activities generally include sports or community activities. Dads coach their kids’ teams, help out with Boy Scouting, or help build the backyard fort.
Parent with kids on the autism spectrum, however, are often exiled from the ordinary pursuits that make up our secular, middle class, American community. Big family events overwhelm little ones on the autism spectrum - and autistic meltdowns confuse and upset relatives, sometimes even sparking criticism and anger. Children with autism have a tough time with playdates, and often create friction between moms. And it’s tough for dads to bond with their peers if their child with autism is the one kid who wanders off instead of kicking or catching the ball.
As if that weren’t bad enough, parents of children with autism have no pre-existing community with similar issues to turn to - nor do their children’s issues elicit the compassion or support of the general public. Unlike parents of children who are blind, deaf, or living with issues such as Down syndrome, there’s no physical manifestation of a disorder. Nor is there any historic understanding of what it means to have an “autism spectrum disorder.” There are no pre-existing supports - such as braille or books on tape for the blind - to help out kids with autism. There are no colleges - such as Gallaudet for the deaf - set up especially for children with autism.
To make matters even worse, children with autism are nothing like one another. That means that even newly-minted parent support groups are likely to be made up largely of people whose concerns are completely disparate. While one parent is worried about her child making friends, another is anxious because his child has yet to speak a single word. These differences can actually set off disagreements among support group members, who want to attend to their own needs or pursue their own projects.
If exile is among the worst punishments possible, parents of children with autism are living with that punishment - and all through no fault of their own. Perhaps that’s one reason why parents group together with such intensity and passion around issues like vaccines, therapies, potential cures and “neurodiversity.” Perhaps, by creating community around autism-related causes, and investing those causes with enormous significance, parents of children with autism are finding what they need: a home, and a reprieve from exile.
Lisa Jo Rudy is a graduate of Harvard Divinity School, the parent of a child with autism, and the About.com Guide to Autism.
genetic contribution to autism
April 17, 2009
full article link here:
http://archpedi.ama-assn.org/cgi/content/full/161/4/356
Risk of Autistic Disorder in Affected Offspring of Mothers With a Glutathione S-Transferase P1 Haplotype
Arch Pediatr Adolesc Med. 2007;161(4):356-361.
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Objective To test whether polymorphisms of the glutathione S-transferase P1 gene (GSTP1) act in the mother during pregnancy to contribute to the phenotype of autistic disorder (AD) in her fetus.
Design Transmission disequilibrium testing (TDT) in case mothers and maternal grandparents.
Setting Autistic disorder may result from multiple genes and environmental factors acting during pregnancy and afterward. Teratogenic alleles act in mothers during pregnancy to contribute to neurodevelopmental disorders in their offspring; however, only a handful have been identified. GSTP1 is a candidate susceptibility gene for AD because of its tissue distribution and its role in oxidative stress, xenobiotic metabolism, and JNK regulation.
Participants We genotyped GSTP1*G313A and GSTP1*C341T polymorphisms in 137 members of 49 families with AD. All probands received a clinical diagnosis of AD by Autism Diagnostic Interview–Revised and Autism Diagnostic Observation Schedule–Generic testing.
Main Outcome Measures Association of haplotypes with AD was tested by the TDT-Phase program, using the expectation-maximization (EM) algorithm for uncertain haplotypes and for incomplete parental genotypes, with standard measures of statistical significance.
Results The GSTP1*A haplotype was overtransmitted to case mothers (P = .01 [P = .03 using permutation testing]; odds ratio, 2.67 [95% confidence interval, 1.39-5.13]). Results of the combined haplotype and genotype analyses suggest that the GSTP1-313 genotype alone determined the observed haplotype effect.
Conclusions Overtransmission of the GSTP1*A haplotype to case mothers suggests that action in the mother during pregnancy likely increases the likelihood of AD in her fetus. If this is confirmed and is a result of a gene-environment interaction occurring during pregnancy, these findings could lead to the design of strategies for prevention or treatment.
genetic factors in ability to detox mercury
April 16, 2009
Glutathione-S-transferase polymorphism, metallothionein expression, and mercury levels among students in Austria
References and further reading may be available for this article. To view references and further reading you must purchase this article.
Claudia Gundackera, Günter Komarnickia, Peter Jagiellob, Alexandra Gencikovac, Norbert Dahmend, Karl J. Wittmanna and Martin Gencikc
aMedical University of Vienna, Center for Public Health, Dept. of Ecotoxicology, Waehringer Strasse 10, A-1090 Vienna, Austria, bCenter for Medical Genetics, Caprivistraβe 30, D-49076 Osnabrück, Germany, cPraxis fur Humangenetik, Brünnlbadgasse 15, A-1090 Vienna, Austria, dCongenics AG, Grandweg 64, D-22529 Hamburg, Germany
Abstract
Background
Detoxification is an essential process in all living organisms. Humans accumulate heavy metals primarily as a result of lifestyle and environmental contamination. However, not all humans experience the estimated individual exposure. This suggests the presence of genetic regulatory mechanisms.
Objective
In order to identify genetic factors underlying the inter-individual variance in detoxification capacity for the heavy metal mercury, 192 students were investigated. We focused on the relationship between polymorphisms in glutathione-S-transferase (GST) genes and mercury concentrations in blood, urine, and hair. The correlation between blood mercury levels, GSTT1 and GSTM1 polymorphism, and gene expression of certain metallothionein subgroups (MT1, MT3) was evaluated in a further group of students (N = 30).
Methods
Mercury levels in acid digested samples were measured by cold vapor AAS. Genotyping of the GSTT1 and GSTM1-gene deletion polymorphism was performed by means of PCR. Gene expression of several MT genes was analyzed in lymphocytes from fresh peripheral blood by semiquantitative RT-PCR.
Results
The following was noted: a) hair mercury concentrations are significantly increased in persons with the double deleted genotype (GSTT1−/− and GSTM1−/−) as compared to persons with the intact genotype, and b) MT1X expression is higher in persons with the intact genotype (GSTT1+/+ and GSTM1+/+).
Conclusions
We conclude that the epistatic effect of the GSTT1 and the GSTM1 deletion polymorphism is a risk factor for increased susceptibility to mercury exposure. The relationship between MT gene expression and GST gene polymorphisms needs further investigation. If MT expression depends on GST polymorphisms it would have important implications on the overall metal detoxification capability of the human organism.
autism facts someone forwarded me
April 15, 2009
Taken from Autism Speaks
Did you know…
1 in 150 children is diagnosed with autism
1 in 94 boys is on the autism spectrum
67 children are diagnosed per day
A new case is diagnosed almost every 20 minutes
More children will be diagnosed with autism this year than with AIDS, diabetes & cancer combined
Autism is the fastest-growing serious developmental disability in the U.S.
Autism costs the nation over $35 billion per year, a figure expected to significantly increase in the next decade
Autism receives less than 5% of the research funding of many less prevalent childhood diseases
Boys are four times more likely than girls to have autism
There is no medical detection or cure for autism
Incidence vs. Private Funding
Leukemia: Affects 1 in 25,000 / Funding: $310 million
Muscular Dystrophy: Affects 1 in 20,000 / Funding: $175 million
Pediatric AIDS: Affects 1 in 8,000 / Funding: $394 million
Juvenile Diabetes: Affects 1 in 500 / Funding: $130 million
Autism: Affects 1 in 150 / Funding: $42 million
National Institutes of Health Funds Allocation
Total 2007 NIH budget: $29 billion
Of this, $80 million goes directly to autism research. This represents 0.28% of total NIH funding.
(According to Autism Speaks’ review, only 63% of the $127 million of the NIH’s autism-related spending in FY2007 was on direct autism spending.)
another abuse story
April 14, 2009
Suit: Aurora teacher strapped student to chair
By Carlos Illescas
The Denver Post
Posted: 04/02/2009 01:23:35 PM MDT
http://www.denverpost.com/breakingnews/ci_12056261
AURORA — A lawsuit was filed against Aurora Public Schools this week,
claiming that an elementary-school teacher repeatedly restrained a
developmentally disabled student by tying her to a chair…
more brain research
April 13, 2009
April 1, 2009 — (BRONX, NY) — Scientists at Albert Einstein College of
Medicine of Yeshiva University have proposed a sweeping new theory of autism
that suggests that the brains of people with autism are structurally normal
but dysregulated, meaning symptoms of the disorder might be reversible.
The central tenet of the theory, published in the March issue of Brain
Research Reviews, is that autism is a developmental disorder caused by
impaired regulation of a bundle of neurons in the brain stem that processes
sensory signals from all areas of the body.
Dominick Purpura, M.D. | Mark Mehler, M.D.The new theory stems from
decades of anecdotal observations that some autistic children seem to
improve when they have a fever, only to regress when the fever ebbs. A 2007
study in the journal Pediatrics took a more rigorous look at fever and
autism, observing autistic children during and after fever episodes and
comparing their behavior with autistic children who didn’t have fevers. This
study documented that autistic children experience behavior changes during
fever.
“On a positive note, we are talking about a brain region that is not
irrevocably altered. It gives us hope that, with novel therapies, we will
eventually be able to help people with autism,” says theory co-author Mark
F. Mehler, M.D., chairman of neurology and director of the Institute for
Brain Disorders and Neural Regeneration at Einstein.
Autism is a complex developmental disability that affects a person’s ability
to communicate and interact with others. It usually appears during the first
three years of life. Autism is called a “spectrum disorder” since it affects
individuals differently and to varying degrees. It is estimated that one in
every 150 American children has some degree of autism.
Einstein researchers contend that scientific evidence directly points to the
locus coeruleus—noradrenergic (LC-NA) system as being involved in autism.
“The LC-NA system is the only brain system involved both in producing fever
and controlling behavior,” says co-author Dominick P. Purpura, M.D., dean
emeritus and distinguished professor of neuroscience at Einstein.
The locus coeruleus has widespread connections to brain regions that process
sensory information. It secretes most of the brain’s noradrenaline, a
neurotransmitter that plays a key role in arousal mechanisms, such as the
“fight or flight” response. It is also involved in a variety of complex
behaviors, such as attentional focusing (the ability to concentrate
attention on environmental cues relevant to the task in hand, or to switch
attention from one task to another). Poor attentional focusing is a defining
characteristic of autism.
“What is unique about the locus coeruleus is that it activates almost all
higher-order brain centers that are involved in complex cognitive tasks,”
says Dr. Mehler.
Drs. Purpura and Mehler hypothesize that in autism, the LC-NA system is
dysregulated by the interplay of environment, genetic, and epigenetic
factors (chemical substances both within as well as outside the genome that
regulate the expression of genes). They believe that stress plays a central
role in dysregulation of the LC-NA system, especially in the latter stages
of prenatal development when the fetal brain is particularly vulnerable.
As evidence, the researchers point to a 2008 study, published in the Journal
of Autism and Developmental Disorders, that found a higher incidence of
autism among children whose mothers had been exposed to hurricanes and
tropical storms during pregnancy. Maternal exposure to severe storms at
mid-gestation resulted in the highest prevalence of autism.
Drs. Purpura and Mehler believe that, in autistic children, fever stimulates
the LC-NA system, temporarily restoring its normal regulatory function.
“This could not happen if autism was caused by a lesion or some structural
abnormality of the brain,” says Dr. Purpura.
“This gives us hope that we will eventually be able to do something for
people with autism,” he adds.
The researchers do not advocate fever therapy (fever induced by artificial
means), which would be an overly broad, and perhaps even dangerous, remedy.
Instead, they say, the future of autism treatment probably lies in drugs
that selectively target certain types of noradrenergic brain receptors or,
more likely, in epigenetic therapies targeting genes of the LC-NA system.
“If the locus coeruleus is impaired in autism, it is probably because tens
or hundreds, maybe even thousands, of genes are dysregulated in subtle and
complex ways,” says Dr. Mehler. “The only way you can reverse this process
is with epigenetic therapies, which, we are beginning to learn, have the
ability to coordinate very large integrated gene networks.”
“The message here is one of hope but also one of caution,” Dr. Mehler adds.
“You can’t take a complex neuropsychiatric disease that has escaped our
understanding for 50 years and in one fell swoop have a therapy that is
going to reverse it — that’s folly. On the other hand, we now have clues to
the neurobiology, the genetics, and the epigenetics of autism. To move
forward, we need to invest more money in basic science to look at the genome
and the epigenome in a more focused way.”
The paper by Drs. Mehler and Purpura, “Autism, fever, epigenetics and the
locus coeruleus,” was published in the March issue of Brain Research
Reviews.
Autism Treatment Acceleration Act
April 12, 2009
NEW YORK, NY (April 2, 2009) – Autism Speaks, the nation’s largest autism science and advocacy organization, today applauded the introduction of the groundbreaking Autism Treatment Acceleration Act (ATAA). Originally drafted by then-Senator Barack Obama and introduced by Senators Richard Durbin (D-IL), Robert Casey (D-PA), and Robert Menendez (D-NJ), ATAA is comprehensive federal legislation that addresses several critical challenges facing the autism community, including increased funding for scientific research, treatment and services. The ATAA incorporates provisions from the Expanding the Promise of Individuals with Autism Act (EPIAA) originally proposed by then-Senator Hillary Clinton (D-NY). A key section of the bill requires insurance companies to provide coverage for the diagnosis and treatment of autism spectrum disorder (ASDs), including coverage of Applied Behavioral Analysis (ABA) therapy – a medically-necessary, evidence-based autism treatment – and assistive communication devices. In most states including WA, insurers are currently allowed to specifically exclude coverage for these critical services, which can cost upward of ,000 a year – well beyond the means of most families. “Autism Speaks is proud to have worked closely with Senators Durbin and Casey on this legislation, which represents a remarkable leap forward in the federal government’s commitment to addressing the challenges faced by individuals with autism and their families,” said Elizabeth Emken, Autism Speaks vice president of Government Relations. “The insurance reform section of the bill, in particular, will have an enormous impact by finally requiring insurers to cover therapies that are literally causing families across the country to go broke as they try to provide their children with the services they need and deserve.” To help address the unique needs of adults with ASDs, the bill would create a demonstration project with one-year planning grants and multi-year implementation grants for the provision of service for adults with autism. These services would address important issues such as education and employment, housing, nutrition and wellness, social activities, and transportation and personal safety. A National Network for Autism Spectrum Disorders Research and Services would be created to maximize existing autism treatment and service capacity and to strengthen linkages between autism research and services initiatives at the federal, regional, state, and local levels. The network would act to expedite the dissemination of critical data and evidence-based or promising practices. These initiatives are aimed at accelerating the dissemination and utilization of critical, new information, moving it from “bench to bedside” as quickly as possible. “The Autism Treatment Acceleration Act would codify important commitments made by candidate and now-President Obama to support individuals with autism, their families and communities,” said Bob Wright, co-Founder of Autism Speaks. “Now it is incumbent on our Congressmembers and Senators to step up and support this legislation, which has the potential to dramatically and directly impact the millions of Americans whose lives have been affected by this disorder.” To learn more about Autism Votes, an initiative of Autism Speaks focused on federal and state legislative advocacy, please visit www.autismvotes.org.
being sick
April 11, 2009
My daughter and I have had the flu all week. We were supposed to go on vacation for spring break today but we are both still too sick. Plus, despite all our best efforts to keep our son from getting exposed, he came down with it this morning. I felt so bad for my son all week. He hasn’t been able to have any of his snuggle time with me because I was trying to keep him from getting sick. I wasn’t able to take him to school and do our normal morning routine. Every routine has been thrown off for him all week. And he’s been such a brave boy through it all. I was so proud of him. And now I feel bad that he is sick too and we aren’t able to go on our trip. We’ll see how this goes over after a couple of days.
