So this.
who's defending Alex Spourdalakis' murder?
7 hours ago
News and commentary on the autism epidemic and my beautiful boy who is living with autism.
BRIDGEPORT -- The mother of a 9-year-old Trumbull girl with autism, who police said was abused by an aide on her school bus while the aide's mother was busy texting while driving the bus, is suing the bus company.Kimberly Stagliano claims, in her lawsuit filed Thursday in Superior Court, that First Student Inc. breached its responsibility to provide her daughter, Isabella, with safe transportation to and from school."As a direct result of the conduct of First Student Inc. and its employees, the minor child suffered permanent personal injuries and damages," said Stagliano's lawyer, Michael Meehan. "In particular, the conduct of First Student Inc.'s employee has had an emotional and educational impact on Miss Stagliano."Officials of First Student, of Cincinnati, did not immediately return calls for comment.Last April, 24-year-old Jennifer Davila, a school bus aide for First Student, was given a suspended sentence after pleading guilty to second-degree reckless endangerment based on allegations that she abused the girl. Her mother, Evelyn Guzman, a school bus driver, received accelerated rehabilitation, a program for first-time nonviolent offenders.According to police, on at least three occasions in April and May 2010, Davila, a monitor on a bus for special needs children for First Student, abused the little girl. Police said there could have been more incidents but only three were captured on the bus's video surveillance camera.Police said the girl's parents were trying to figure out how their nonverbal daughter kept getting bruises and sprained fingers on her right hand when on May 19 they received a call from the nurse at Frenchtown Elementary School that their daughter had arrived at school that morning crying hysterically. The parents then demanded to see the video from their daughter's school bus.That video, which also had audio, showed Davila grabbing the girl's hands and the girl then crying out in pain.Police said they then obtained DVD copies of the bus videos for April 27, April 29 and May 19, 2010. On April 27 and May 19, the driver of the bus is Davila's mother.Police said the April 27 video shows Davila putting her hands in the area of the girl's hands during the bus ride from the school to the girl's home. With each movement, the girl's cries get louder.On the April 29 video, Davila is heard telling a substitute driver to stop at the girl's home first after they leave the school. "Because she (the girl) will (obscenity) her pants," she explains. Within minutes of leaving the school, the video shows Davila again reaching toward the girl's hands, and the girl is heard crying.On May 19, the girl is seen on the video boarding the bus with her mother, who assists her to her seat. When the mother leaves the bus, Davila is heard saying, "Goodbye mom." She then touches the girl's head twice and then grabs the girl's right hand and begins to manipulate it as the girl whimpers.Police said Guzman had been captured on the bus's video camera texting more than 1,000 times as she drove a bus load of special needs children between April and May 2010.dtepfer@ctpost.com; 203-330-6308; http:// twitter.com/dantepfer
Increasing prevalence suggests environmental factors like chemicals and microbes changing over the past decade, whereas genes change over generations. Why is anyone looking for genetic causes when there is such a rapid increase in prevalence? Shouldn’t every research dollar be invested in finding the environmental culprit rather than searching for rare gene variants?
Hi. I'm Tom Insel.
I have been entrusted with finding the causes and cures of autism for the last six years, but instead, autism rates have more than doubled on my watch. I freely admit that more than 80% of autism is environmental, and less than 20% can be attributed to genetic causes, but I have decided to ignore the environmental factors in autism that could, if found and quickly addressed to prevent exposures, could end the autism epidemic in the next two or three birth cohorts.
Instead, I am going to continue to pour hundreds of millions of tax payer dollars into genetic studies that have not yet prevented one case of autism, nor lead to one medical treatment for autism, into this dead end, just in case we find something really cool that might help us call some kinds of autism one thing and some kinds of autism something else. They still won't tell us what we can do to prevent autism in kids of parents who have these genes, and it might even be that the genes are not even the parents genes, but genes that get broken in the sperm cells cause they are poisoned or microwaved or whatever in daddy's drawers before conception, but still... how cool is it to find different genes and stuff!
My earnest hope has been that you wouldn't notice that I have already wasted 700 million dollars doing nothing and issuing reports that say nothing except, "send me more money to figure this out, I am totally gonna fix this, I swear... but it is just so hard!", but as a hundred thousand or so of you in the autism community have just called for me to be fired, I am guessing that is out the door. So now I am really just hoping that I can get away with using the word "environmental" in a title on my blog and you will be fooled into thinking I am taking the autism epidemic seriously.
Failing that, I can only hope that you have decided that I am an ineffectual douchbag who does not have the competence to figure this out, because if that does not fly, it will be super apparent to anyone to takes a hard look at me that I am a corrupt bastard trying to preserve my brother Dick's interest and those of the Administrations big donors. Also HHS... please don't notice that we are actually a vaccine maker too, and get cash payments from the people you THINK are making the vaccines, like Merck, cause we hold patents on the shots that we recommend you buy from them. (Have you heard about my brother Dick? Yyou see he brought a vaccine to market, sold the company to Wyeth, then went to work trying to cure diabetes. See what he did there... make a product that causes autoimmune disorders, then make a bundle treating autoimmune disorders! Money coming and going... genius really. He is the smarter brother, I will give him that.)
Also about HHS... please don't notice that we are actually a vaccine maker too, and get cash payments from the people you THINK are making the vaccines, like Merck, cause we hold patents on the shots that we recommend you buy from them. Yes I work for NIH and yes NIH holds the Gardasil patent, and yes NIH gets a check for every Gardasil shot you buy, and no we never disclose that, but I swear... vaccines are not a problem. It genes. Really.
In closing, please notice what a pleasant smile I have. Autism parents are good people.
The New Genetics of Autism – Why Environment Matters
Last week’s autism news was about prevalence. The CDC reported a 78 percent increase in autism prevalence since 2002. This week’s autism news is about genetics—three papers in Nature describe new genes associated with autism. For many people, these two stories seem contradictory or, at best, unrelated. Increasing prevalence suggests environmental factors like chemicals and microbes changing over the past decade, whereas genes change over generations. Why is anyone looking for genetic causes when there is such a rapid increase in prevalence? Shouldn’t every research dollar be invested in finding the environmental culprit rather than searching for rare gene variants?The simple answer is that some autism is genetic. Autism, like schizophrenia and mood disorders, includes many syndromes. Indeed, we should probably speak of the “autisms.” Some of these autisms are single gene disorders, such as Fragile X, tuberous sclerosis, and Rett syndrome. While these rare genetic disorders account for less than 5 percent of children within the autism spectrum, children with any of these disorders are at high risk for autism, roughly a 30-fold higher risk than the general population and higher than any of the other known risk factors. Recent genomics research has discovered that many children diagnosed within the autism spectrum have other genetic mutations that have not yet been designated as named syndromes. Each of these mutations is rare, but in aggregate they may account for 10 - 20 percent or more of what we have been calling the autisms.1The new papers published today in Nature use an approach called whole exome sequencing, mapping every base of DNA across the exome—the 1.5 percent of the genome known to code for protein. The three research groups are members of the Autism Sequencing Consortium (ASC), an international team of autism genetics researchers. All three look for de novo or spontaneous mutations, changes in DNA sequence that are not found in either parent. Recent sequencing studies in the general population have demonstrated that each of us diverges genomically from our parents — the process of reproduction introduces variation even beyond the random mixture of the genomes we inherit from mom and dad. People with autism and schizophrenia are far more likely to have large de novo copy number variants, sometimes a million bases of DNA that are abnormally duplicated or deleted and not found in either parent.These new papers go beyond the previous discovery of de novo copy number variants to identify de novo single base changes associated with autism. This is tough sailing because there are so many of these changes in all of us and most of these single base changes have no impact. These studies tried to improve the odds of success by focusing on individuals from families with no one else affected (these are called “simplex” families), and sometimes comparing the individual with autism to a sibling without autism. The results are intriguing.There is no breakthrough or single gene that is a major new cause of autism. But the role of genetics becomes even more evident when these single base changes are considered. For instance, an individual with autism is nearly 6-fold more likely to have a functional variant in genes expressed in the brain. Sanders et al. estimate as many as 14 percent of affected individuals have such a risk variant.2 This 14 percent is in addition to the 10–20 percent with a large copy number variant or identified genetic syndrome. O’Roak et al. find that 39 percent of these variants are related to a specific biochemical pathway, important for brain signaling.3 And Neale et al., while cautioning that the net effect of all of these changes still leave much of the risk for autism unexplained, note the roles of a few specific genes as genuine risk factors.4Stepping back from this flood of genomic information, what is most important? First, these reports along with previous publications confirm that genetic risk is both complex and substantial. While individual genes appear to confer limited risk, the aggregate effect of spontaneous coding mutations across the genome is now estimated to increase the risk of autism by 5–20-fold.4 Complex genetics does not mean modest effects.Second, the kinds of small and large genetic changes associated with autism are common in everyone. Risk is conferred not by the size of the mutation or the number of mutations (we all have many) but by the location. Increasingly, we see that interference with the genes involved in development of synapses confer risk; a similar change upstream or downstream does not.A third point takes us back to the questions we started with. It is important to understand that de novo mutations may represent environmental effects. In other words, environmental factors can cause changes in our DNA that can raise the risk for autism and other disorders. One of these papers reports that spontaneous changes are four times more likely to show up in paternally inherited DNA and are correlated with paternal age.2 The father’s germline, his sperm cells, turn over throughout the lifespan. Presumably, with advancing paternal age, there are a greater number of spontaneous mutations and a greater likelihood that some of these will affect risk genes. Environmental factors and exposures can cause sperm cells to develop mutations that are not found in the father’s somatic, or body cell, DNA, but these new, spontaneous mutations can be passed to the next generation, raising the risk for developing autism. In the initial report of the relationship between autism and paternal age, boys with autism were 6-fold more likely to have a father in his 40s vs his 20s. In girls with autism, this difference went up to 17-fold.5 Paternal age has, of course, increased in the past few decades. This does not explain the increasing prevalence of autism, but it may contribute.Is autism genetic or environmental? These new studies suggest it can be both. Genetics will not identify the environmental factors, but it may reveal some of the many syndromes within the autism spectrum (as in other neurodevelopmental disorders), it can define risk (as in other medical disorders), and it should yield clues to the biology of autism (revealing potential targets for new treatments). These three new papers on spontaneous mutations are an important milestone in a long journey. In parallel we need to find environmental factors, recognizing that there will be many causes for the autisms and many roads to find them.Finally, an unavoidable insight from these new papers is that autism even when genetic may be spontaneous and not inherited in the sense that one or both parents carry some reduced form of the syndrome. Perhaps this insight will finally reduce the “blame the parents” legacy perpetuated for too long in the absence of scientific evidence.References
1Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci. 2011 Sep;15(9):409-16. Epub 2011 Aug 18. PubMed PMID: 21855394.1
2Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. April 5, 2012. Nature.
3O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. April 5, 2012.
4Neale BM, Kou Y, Liu L, Ma’ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shair K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. April 5, 2012.
5Reichenberg A, Gross R, Weiser M, Bresnahan M, Silverman J, Harlap S, Rabinowitz J, Shulman C, Malaspina D, Lubin G, Knobler HY, Davidson M, Susser E. Advancing paternal age and autism. Arch Gen Psychiatry. 2006 Sep;63(9):1026-32. PubMed PMID: 16953005.Learn more about: Autism, Children and Adolescents, Genetics. View all posts about: Autism, Children and Adolescents,Genetics.
I was listening this AM to WNYC – Kurt Andersen, of all hostile people, did a segment on the ADDM numbers with Walter Zahorodny, assistant professor of pediatrics at the University of Medicine and Dentistry of New Jersey in Newark. Zahorodny was the lead researcher on the New Jersey portion of the study.
Kurt Andersen (Seth Mnookin's friend): “I guess we know what they (the causes of autism) aren’t, for instance childhood vaccines. Right?”
Dr. Zahorodny: “Vaccines don’t play a significant role in autism increasing. Some small number of children probably do have autism because of an adverse vaccine reaction, but they don’t make for the overall rise.”
Ashbrook: "Dr. Dawson, here's a question online from Melrose, has the link between MMR vaccine and autism been completely discredited. I notice that the word 'vaccine' has not even come up so far in this hour. Is that...for some years that had a lot of attention, is that off the table now, Dr. Dawson?"
Dr. Dawson: "There is no evidence that the increase in prevalence that we're seeing in Autism Spectrum Disorder is linked to the MMR vaccine. You know, if vaccines play a role, and there has not been any evidence thus far to show that it has, it would be a very small minority of individuals who have an underlying medical condition where the vaccine may have triggered an onset of symptoms for an already existing condition or vulnerability. So we do not believe that vaccines are an explanation of the increase and we strongly encourage parents to get their children vaccinated."
"You know, if vaccines play a role [in rising autism prevalence], and there has not been any evidence thus far to show that it has."
Not even the government keeps track of their own cases of vaccine induced autism!"The government has never compensated, nor has it ever been ordered to compensate, any case based on a determination that autism was actually caused by vaccines. We have compensated cases in which children exhibited an encephalopathy, or general brain disease. Encephalopathy may be accompanied by a medical progression of an array of symptoms including autistic behavior, autism, or seizures.Some children who have been compensated for vaccine injuries may have shown signs of autism before the decision to compensate, or may ultimately end up with autism or autistic symptoms, but we do not track cases on this basis."
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| Light it up blue! |
I have a hard time each year with AUTISM AWARENESS DAY/MONTH. This is the Fourth Annual International Autism Awareness Day. How long are we going to pretend that all this autism is normal and acceptable? Seriously, how bad do the numbers have to get?
A number of stories out in the news calling for the public to "celebrate" the day. Today is World Autism Awareness Day by Kristina Chew "Today, April 2, is the fourth annual World Autism Awareness Day, during which 'autism organizations around the world celebrate the day with unique fundraising and awareness-raising events.' "
Pueblo Chieftain: Blue balloons raise autism awareness, "The baby blue balloons that Jonah and his classmates at Beulah Heights Elementary School released were to celebrate the beginning of National Autism Awareness Month. The event is celebrated each April, while the World Autism Awareness Day is today."
Sioux Falls Argus Leader: 5 questions: Shedding light on autism, "The falls will be colored blue by lights in support of the Autism Speaks' global Light It Up Blue campaign to celebrate World Autism Awareness Day and Autism Awareness Month."
Lufkin Daily News: Peavy students working to raise autism awareness, "Because of the prominence of the disorder in boys, blue is the official color for autism awareness and the reason the entire Peavy campus was encouraged to don the color Friday to celebrate Autism Awareness Month."
Berkshires.com: Diversity Takes Center Stage in the Berkshires, "'We have so many people supporting this committee right now,' said MaryLee Daniels, director of the Berkshire office of the Department of Developmental Services, and committee member.
"BFAIR, BCArc, the list goes on as to how many organizations support this initiative. We especially want people to join us in celebrating three different months of diversity. Of course, last month was Black History month. This month is Developmental Disabilities month and next month is Autism Awareness month. We have so much to celebrate here."
What is there to celebrate?
Lots of stories are about lighting things up in blue for autism awareness. Lots of them talk about autism being a developmental disorder affecting one percent of children whose cause is unknown. This is done without any alarm or demand for answers. We have been conditioned to accept autism as the perpetual mystery.
As the parent of a son in his 20’s with autism, I’ve had several decades of experts knowing nothing about this disorder. Is this to be the epidemic without a cause?
Looming in the background is the reality of what autism is doing to us. As I listen to the dire predictions about the hard economic times we're in and the need for austerity, I have to ask how in the world we're going to address the needs of the generation of children with autism about to descend on America as adults.
Dr. Thomas Insel is the wet blanket in all this celebration, acceptance, and awareness of autism.
He's the head of the Interagency Autism Coordinating Committee created by Congress to deal with with the disorder and he says that 80 percent of Americans with autism are under the age of 18. He's warned us we have to prepare for a million dependent adults "who may be in need of significant services." The IACC now calls autism "a national health emergency."
Maybe a better name for April 2 is World Autism Emergency Day.
Anne Dachel
Media editor: Age of Autism


For example, what is the purpose of putting up a billboard that is telling me a child is born with autism every 20 minutes? What can I possibly do other than sit in my car and mutter to myself, “Well that sucks.” Maybe if there was a cure or even ways to help prevent autism, it might make more sense to have a billboard. Then it would reinforce concepts in people’s head that they could apply later like “only you could prevent forest fires” or “don’t eat cheese before noon.” But frankly, all this billboard is really saying is, “Beware, autistic people are everywhere,” and I’m sure that isn’t the message they want to get across. We already know autism exists; give us something we can work with. If the autism front wants to put us through a year of sappy ads and TV specials, than at least make it worth the time and money and headache. Teach us something. I was on my way to New York City this weekend and every toll booth was littered with autism propaganda. Did I learn anything? No. There are more intelligent ways to get out a message to the public.