"It is very possible that PATERNAL AGE is the major predictor of(non-familial) autism." Harry Fisch, M.D., author "The Male Biological Clock". Sperm DNA mutates and autism, schizophrenia bipolar etc. results. What is the connection with autoimmune disorders? Having Type 1 diabetes, SLE,etc. in the family, also if mother had older father. NW Cryobank will not accept a sperm donor past 35th BD to minimize genetic abnormalities.VACCINATIONS also cause autism.

Saturday, February 28, 2009

Best of A of A: Autism Explosion Followed Big Change in MMR Shot

February 28, 2009
Best of A of A: Autism Explosion Followed Big Change in MMR Shot
Managing Editor's note: This piece ran in January. It seemed appropriate to re-post it following the Banks v. HHS decision. Merck no longer makes the single MMR components. By Dan OlmstedIn 1990, Merck & Co., manufacturer of the mumps-measles-rubella vaccine known as the MMR, made a significant but little-noticed change: It quadrupled the amount of mumps virus in the combination shot, from 5,000 to 20,000 units. Then in 2007 it reversed course, reducing the amount to 12,500 units. Neither the measles nor the rubella (German measles) component of the MMR was changed at all -- each remained at 1,000 units throughout. Merck also makes the single-component mumps shot, and in 1990 it also increased the potency of that shot by the same amount, from 5,000 to 20,000 units. But unlike the MMR shot, the standalone mumps shot’s potency was not scaled back in 2007. It remains at 20,000 units. These changes were mentioned in passing recently during an informal conversation with a Merck scientist. I started looking for an explanation for the sequence of events, but Merck did not respond to a detailed written request for comment. Absent such an explanation, simple logic dictates the reduction had something to do with the MMR in particular rather than the mumps vaccine in isolation. But what? And what about the timing -- the increase in 1990 and the decrease in 2007?
The huge rise in autism cases began about the time the mumps component in the MMR was raised in 1990. One theory, dismissed by Merck and federal public health officials, is that viral interference between the components in the MMR could create a persistent sub-clinical measles infection in a subset of vulnerable children; and because the measles virus can cause brain damage, that could lead to autism. A study released last week by the M.I.N.D. Institute at UC Davis reported that most of the fivefold increase in full-syndrome autism -- from 9 in 10,000 children in 1990 to 44 in 10,000 children in 2000-- is real and cannot be accounted for by broader categories or diagnostic substitution. And from 1990 to 2007, the mumps portion of the MMR was higher by roughly the same amount -- quadruple. Merck’s decision to cut back on the increase in the mumps vaccine also is surrounded by interesting timing. The cutback, in 2007, came at the same time Merck announced it was suspending its recently introduced, much-hyped four-in-one shot, ProQuad -- the MMR with the chickenpox vaccine added to it. In suspending ProQuad, Merck cited a shortage of chickenpox vaccine; subsequently, a study showed ProQuad caused twice as many fever-induced seizures as separate MMR and chickenpox shots given at the same time, and a CDC advisory committee withdrew its preferential recommendation of the vaccine. Merck won't say when ProQuad will return to the market. An investigation I conducted while at UPI in 2006 found two cases of regressive autism in one small city -- Olympia, Wash. -- in clinical trials leading up to approval of the vaccine. Merck said the parents originally failed to report those cases to it (though the pediatricians paid to conduct the studies for Merck certainly knew about them and would have been expected to report them); the company alerted the FDA only after my inquiry.
The Merck scientist I spoke with recently also acknowledged that viral interference can affect the potency of individual MMR ingredients; that explains why the company added a whopping dose of chickenpox vaccine to the ProQuad shot, several times more than the standalone chickenpox vaccine contains. Using the same amount of chickenpox vaccine in the MMR shot as the standalone vaccine simply wouldn’t have protected children against the disease, because more virus was needed to offset the interference from the other components. A significant number of parents of children with regressive autism cite the MMR as the proximate cause -- they say their child was developing normally until the shot, then in many cases had a serious physical reaction within a short period of time and began losing developmental milestone and showing typical signs of the disorder. Some also developed severe gastrointestinal problems, an ailment first described in cases of regressive autism following the MMR shot by Dr. Andrew Wakefield in Britain in 1998; he named it autistic enterocolitis and found measles RNA in the children's GI tract, suggesting persistent infection. In looking at whether the increase in mumps potency in 1990 could buttress this theory of the autism epidemic, two questions arise: Is there evidence that increasing the mumps portion of the MMR could have any impact on measles infectivity or create symptoms consistent with those described by Wakefield and parents? And, could ProQuad's higher rate of measles rash and fever-induced seizures be a warning sign that something is amiss with the MMR itself, especially beginning in 1990 when Merck tinkered with the proportions of the components? The answers seem to be, yes and yes. In the real world, children rarely get two viral illnesses at once -- for instance, chickenpox and rubella. But when they do, viruses tend to interact -- or interfere -- with each other in unpredictable and synergistic ways. One example: Studies in the UK and Iceland showed that when mumps AND measles epidemics hit these populations in the same year, the risk of inflammatory bowel disease spiked. That's an epidemiological argument for immune interference, and a striking fit with the observations by Wakefield, and thousand of parents, that a similar condition occurs in many children with regressive autism after they get the measles-mumps-rubella shot. A related finding comes from a study funded by Merck. In 2005, the study reported that the four-in-one ProQuad shot -- the MMR and chickenpox -- was "generally well tolerated" and had a safety profile similar to the MMR and the chickenpox shot (also made by Merck and called Varivax) when given separately. But there were a couple of interesting differences. First, "Measles-like rash and fever during days 5-12 were more common after the first dose of MMRV [ProQuad]" than after the MMR and Varivax given separately. The difference was substantial -- 5.9 percent who got the MMRV had the rash and 27.7 percent had fever, compared to 1.9 percent with rash and 18.7 fever after getting separate shots. While that did not alarm the researchers, it could be a foreshadowing of the doubled rate of fever-induced seizures that was spotted after ProQuad was approved. Second, even though the new element in ProQuad was the chickenpox portion, something new and unexpected was also going on with the mumps and measles components. "Geometric mean titers to measles and mumps were significantly higher after 1 dose of MMRV than after administration" of MMR and Varivax separately, according to the study's summary. Later, the authors state: "This suggests that the measles and mumps virus replication is greater after MMRV than it is" after the MMR and Varivax given separately. In non-scientific language, it looks like the addition of another live virus -- chickenpox -- potentiated the measles and mumps components: It kicked both viruses into higher gear and they replicated at rates higher than in the MMR. At the same time, the researchers observed a greater incidence of measles-like rash, and fever, in those who got ProQuad. Were the increased measles and mumps viruses interacting in some unexpected and potentially dangerous way? Then, for whatever reason, sometime between February and December of last year Merck reduced the mumps component of the MMR from 20,000 units to 12,500 while leaving the standalone mumps shot as it was. During that same period, it decided to suspend production of ProQuad. In April 2007, it announced the suspension, and said no more would be available after July. Then in early 2008, Merck’s study showing the doubled risk of seizures in ProQuad was unveiled and the CDC withdrew its recommendation. And just last month, Merck said it would stop making the individual MMR component shots including, of course, the mumps shot. That leaves the MMR as the only vaccine in town, and it means there will no longer be a mumps vaccine formulation on the market with the dose the MMR contained from 1990 to 2007. None of this might matter if not for the fact that measles is capable of causing cause catastrophic brain damage and death; that's an argument for the measles vaccine. In medical parlance, it’s a neurotoxic virus. "The invasion of the CNS [central nervous system] by MV [measles virus] is apparently not an uncommon event, as reflected by the finding of genomic sequences in normal autopsy cases and the widespread distribution of MV in in neurons, glial cells and vascular endothelial cells of the diseased brain," according to "Measles Virus Infections of the Central Nervous System" by Uwe G. Liebert of the University of Leipzeig, Germany, published in Intervirology in 1997. "The susceptibility of the host as well as his age and immune status at the time of infection constitutes significant factors for disease progression." Merck acknowledges the three viruses can indeed interact to affect a child’s immune system, although in ways it says are not harmful. A Merck scientist publicly discussed the interference issue at a CDC meeting in 2004, the year before ProQuad was approved, according to agency minutes. Dr. Florian Schodel "confirmed the possibility that the chickenpox virus component of ProQuad was causing a local immune suppression and an increase in measles virus replication. ... The current hypothesis is that the varicella and measles virus are co-infecting the same or proximate areas of the body and engaging in a specific interaction, but how that works is as yet unknown. "He said the interference appeared to involve only the chickenpox and measles viruses – 'there is no such effect for the mumps or rubella vaccines administered locally at the same time.'" Yet based on Merck's own 2005 study cited above, ProQuad triggers an increase in mumps virus replication, too. Live viruses in ProQuad seem to be behaving in ways "as yet unknown" that cause immune suppression, co-infection, interaction and increased replication. Even without ProQuad on the market, interaction between the MMR components and the chickenpox virus remains a possibility. The CDC started recommending the chickenpox shot in the mid-1990s at the same 12-month well-baby visit as the MMR. That suggests the pattern highlighted by ProQuad could be at work through the increased mumps component of the MMR and the addition of chickenpox to the childhood immunization schedule in the mid-1990s. The lesson could be that combining live viruses, and then increasing them or adding new ones, is inherently dangerous, especially when invasion of the brain by one of them “is not an uncommon event.” As Andy Wakefield told me when I was working on the series in Olympia describing the children in the ProQuad clinical trials who became ill after the vaccination and subsequently regressed into autism: "It's actually heartbreaking, listening to these parents, for more than just the immediate reasons their child has met this fate. It's that you're staring into an abyss," Wakefield said. "You're listening to stories which reflect the fundamental misconception of vaccine manufacturers of what viruses are and what they do." Two additional points worth noting: After the increase in 1990 and decrease in 2007, there is still more than twice as much mumps virus in the MMR as there was in 1990. The changes in the mumps virus component of the MMR serves as a potent reminder of something else: MMR is not one thing but three different exposures. And over the period 1980-2009 the MMR has changed significantly at least twice, making epidemiological studies even more difficult to interpret.--Dan Olmsted is Editor of Age of Autism.


El Primo Paper One Cause of Autism etc.

Older men are having children, but the reality of a male biological clock makes this trend worrisome
Feature Article
Jan 15, 2009By: GeriatricsVolume 64, Issue 1
Pages 1 2 3 4

Dr Fisch is Professor of Clinical Urology, Department of Urology, Columbia University College of Physicians and Surgeons, Columbia University Medical Center, New York City.
Disclosure: The author states that he has no financial relationship with any manufacturers in this area of medicine.
Couples are waiting longer to have children, and advances in reproductive technology are allowing older men and women to consider having children. The lack of appreciation among both medical professionals and the lay public for the reality of a male biological clock makes these trends worrisome. The age-related changes associated with the male biological clock affect sperm quality, fertility, hormone levels, libido, erectile function, and a host of non-reproductive physiological issues. This article focuses on the potentially adverse effects of the male biological clock on fertility in older men. Advanced paternal age increases the risk for spontaneous abortion as well as genetic abnormalities in offspring due to multiple factors, including DNA damage from abnormal apoptosis and reactive oxygen species. Increased paternal age is also associated with a decrease in semen volume, percentage of normal sperm, and sperm motility. Older men considering parenthood should have a thorough history and physical examination focused on their sexual and reproductive capacity. Such examination should entail disclosure of any sexual dysfunction and the use of medications, drugs, or lifestyle factors that might impair fertility or sexual response. Older men should also be counseled regarding the effects of paternal age on spermatogenesis and pregnancy.
Fisch H. The aging male and his biological clock. Geriatrics. 2009;64(1):14-17.
Keywords: apoptosis, hypogonadism, male biological clock, male infertility, paternal age, spermatogenesis, testosterone
The phrase "biological clock" commonly refers to the declining fertility, increasing risk for fetal birth defects, and altered hormone levels experienced by women as they age. Abundant scientific evidence suggests that men also have a biological clock.1,2 The hormonal and physiological effects of the male clock are linked with testosterone and fertility declines, as well as pregnancy loss and an increased risk of birth defects.3 In this article, we review the effects of the male biological clock, and the association between advanced paternal age and decreased spermatogenesis, pregnancy rates, and birth outcomes.
Male testosterone levels (both total and free) decline roughly 1% per year after age 30.4 The rate of decline in one study4 was not significantly different between healthy men and those with chronic illnesses or multiple comorbidities. This decline can shift men whose testosterone levels are in the low end of the normal spectrum to levels considered below-normal, or hypogonadal (testosterone <325 ng/mL) as they age. An estimated 2 to 4 million men in the United States fall in this category, either from age-related declines, illness, injury, or congenital conditions.5 The population of hypogonadal men is increasing due both to the aging of the general population and unknown factors that appear to be suppressing the average levels of testosterone in more recent birth cohorts.6 The increasing prevalence of abnormally low testosterone levels in elderly men was demonstrated in the Baltimore Longitudinal Study on Aging, which determined that hypogonadal testosterone levels were present in approximately 20% of men over 60, 30% over 70, and 50% over 80 years of age.7
Sub-normal testosterone levels are associated not only with decrements in fertility and sexual response, but also a wide range of other health problems such as declines in muscle mass/strength, energy levels, and cognitive function, as well as increased incidence of weight gain (particularly central adiposity), type 2 diabetes, the metabolic syndrome, and cardiovascular disease. Testosterone replacement therapy to address the wide range of health problems related to hypogonadism is becoming increasingly popular. Delivery via gels or transdermal patches can result in physiologically normal levels of testosterone, which is preferable to the spiky levels obtained via testosterone injections. Oral formulations are under development but none have progressed beyond the clinical trial phase. Fears that testosterone replacement therapy may promote the growth of prostate carcinomas has abated in light of findings from several studies that find no such link.8


Thursday, February 26, 2009

Pediatrics PR
Thursday, February 26, 2009

U.S. Vaccine Court Rules MMR Vaccine Causes Autism Disorders: Thoughtful House Says Decision Contradicts Findings in Controversial Cedillo Case
U.S. Vaccine Court Rules MMR Vaccine Causes Autism Disorders: Thoughtful House Says Decision Contradicts Findings in Controversial Cedillo Case
Courts continue to rule there is evidence that autism disorders may be connected to measles-mumps-rubella vaccines. U.S. government policy and most health care providers disagree. Researcher Dr. Andrew Wakefield and others insist the science is not settled and further studies are required to determine if there are genetic or biological markers for children who might be susceptible to autism spectrum disorders after vaccines.
Austin, TX (PRWEB) February 26, 2009 -- The controversial Feb. 12 decision by the Federal Vaccine Court (Editors - please note this is the court's name - hears only vaccine cases) in Washington, D.C. that there was no link between MMR (measles-mumps-rubella) vaccines and autism contradicts a ruling issued by the same court in June of 2007, according to autism researcher Dr. Andrew Wakefield of Thoughtful House Treatment Center. In addition, just days after its announcement denying the vaccine-autism link in the Cedillo case, the court awarded an estimated $3 million dollars to the family of 10 year-old Bailey Banks on Friday, February 20, 2009, court documents confirm ( The written statement by the court's Office of Special Masters concedes that the child's acute brain damage was a result of the MMR vaccine, which led to his autism spectrum disorder (ASD).
Although the U.S. vaccine court continues official denials to the public of any connection between the MMR shots and autism, it quietly settled the case with the Banks family. Special Master Richard Abell wrote that the family had successfully demonstrated "the MMR vaccine at issue actually caused the conditions from which Bailey suffered and continues to suffer."
Awards have been granted to three families because the vaccine court has decided there was in fact a causative connection between the MMR 3-in-1 shot and brain damage in these children, according to CBS News ( That damage resulted in an autism spectrum disorder, and as many as 1,300 awards may have been granted. Vaccines have also been found to be causally related to autism spectrum disorders in seven other known cases by the same court. In the Banks decision, the court relied on a report based on a complete neurological investigation, including an MRI scan 16 days after his MMR shot. He was diagnosed with acute disseminated encephalomyelitis (ADEM), a neurological disorder characterized by inflammation of the brain and spinal cord, which is known to follow immunization.
"I am personally aware of many, many parents who report these exact symptoms in their children following MMR immunization," said Dr. Andrew Wakefield, Executive Director of Thoughtful House, an autism treatment center in Austin, Texas. "Very few children with autistic regression receive the proper work-up that Bailey had during the early stage of the disease, so a possible ADEM diagnosis may well have been missed in the other children. The MRI findings often disappear after the damage has been done."
Signs of ADEM usually appear within a few days or a few weeks after immunization or infection, often beginning with gastrointestinal or respiratory symptoms. The disease progresses to neurological deterioration including loss of eye contact, ataxia (poor coordination), changes in mental status, delirium, lethargy, and seizures.
"The contradictory rulings from the vaccine court regarding vaccines and autism demonstrate that we still don't have a definitive answer," said Dr. Bryan Jepson, an autism specialist at Thoughtful House. "We need to realize that the question of the MMR's possible contribution to autism remains a matter of scientific debate. Ultimately, the correct answer will come through honest, transparent, and rigorous scientific study, not from a court bench."
About Thoughtful House:
Thoughtful House takes a multi-disciplinary approach to treating autism and supports a 'safety-first' vaccination policy that gives parents the option of choosing a stand-alone measles vaccine for their children. The research program at Thoughtful House is dedicated to understanding the biological origins of childhood developmental disorders and establishing best practices in treating children affected by these disorders.
Contact Information James MooreThoughtful Househttp://www.thoughtfulhouse.org512-300-9232


Saturday, February 21, 2009

From The Sunday Times
February 22, 2009
Shamans and horses work magic on autistic Rowan
Rupert Isaacson was almost at his wits’ end over his son’s demonic fits, but a riding trip in Mongolia to visit local healers brought an amazing change

When Rupert Isaacson decided to take his five-year-old son on a three-week trek across Mongolia on horseback, it wasn’t just his friends who thought he’d gone crazy. His wife Kristin was appalled. Rowan was autistic: incontinent, uncommunicative and given to fearsome bouts of nerve-shredding screeching, even at home. How on earth would he cope?
Isaacson had become obsessed with the idea that his son had inherited his own affinity for horses and believed that if he could take Rowan to the mountainous region where horses originated and seek help from its shamans, he might find a cure. “For a while Kristin thought I was being completely bananas,” he admits. “She wondered who really needed to be healed here, Rowan or me.”
London-born Isaacson, 42, discovered his gift for horses as a child on visits to his aunt’s farm in Berkshire and has made a career as a horse trainer, travel writer and campaigner on behalf of indigenous peoples. In the 1990s, having discovered a family link to a group of displaced bushmen in South Africa, he helped them to reclaim their ancestral land and subsequently founded the Indigenous Land Rights Fund.
Extended periods spent living in the bush brought him into contact with traditional healers and convinced him of their powers. Could they take an autistic boy and succeed in unlocking his mind where western medicine had failed? To find out, the family set off across Mongolia in May 2007 on an adventure with an astonishing outcome – one he is convinced may point to new ways of treating autism, a developmental disorder that is relentlessly on the rise.
Rowan’s odd behaviour became obvious when he was about 18 months old. He seemed to inhabit his own little world; when his name was called, he didn’t look round. He never pointed at things he was interested in, nor brought little gifts to show his mother. Instead of playing with toys, he lined them up obsessively in rows. Then the tantrums started: not the usual “I’m hungry/tired/bored” outbursts that all parents are familiar with, but strange, demonic fits that could come out of nowhere and last for hours.
Isaacson and his wife, a developmental psychologist based at Texas University, were baffled. Autistic children are often obsessed with objects or routines: they also tend to be undemonstrative, avoiding eye contact. “Rowan seemed too emotionally connected to be autistic,” says Isaacson, “but then Kristin looked up the symptoms and he ticked every box but one.”
About one in 500 children in Britain has some form of the disorder. A large proportion suffer seizures. From what we know of autistic people’s brains, some parts seem to be “overwired”, making them hyper-sensitive. A gentle breeze can feel, to an autistic child, like being blasted by a flame-thrower. A fluorescent strip-light may seem to flicker thousands of times a second, causing confusion and panic.
It goes without saying that looking after an autistic child is exhausting. It drove the Isaacsons almost to their wits’ end, but they reacted in different ways: Kristin, the rational academic, put her professional knowledge and energy into finding an effective cognitive or behavioural therapy, while her more romantic husband sought solace in nature. He found he could calm Rowan’s tantrums or “neurological fire-storms” by taking him into the open. In the fields and woods around their home in Texas, father and son could find some peace.
One day, when Rowan was almost three, something unexpected happened. Isaacson, who had all but given up riding, believing his son would be unsafe around horses, did not notice until too late that Rowan had run through a neighbour’s fence. Five horses were grazing on the other side: “Rowan ran in among them and threw himself on his back among the hooves. I froze. I didn’t want to spook the horses.”
Rowan lay there as the horses sniffed him, then Betsy, the herd’s formidable boss mare, pushed to the fore, gazed at Rowan and bent her head in submission – a gesture called “making obeisance”, which Isaacson had never seen a horse make spontaneously: “I thought: shit, he’s got the horse gene.”
He asked if he could borrow Betsy and, as he was saddling up, suggested to Rowan they might get on the horse’s back. “Up!” said Rowan.
“Do you want Betsy to go?” he asked, when they were both on the horse. Rowan said: “Go! Go!” It doesn’t sound like much, but this was Rowan’s first lucid speech. Soon he was talking intelligibly. Something strange happened when he was on the horse. “He began to talk meaningfully, not just babble or recite Thomas the Tank Engine train names,” says Isaacson. “For the time we were together in the saddle there were no tantrums. It became a place of respite and joy.”
Experts who have heard Rowan’s story speculate that there may be a physiological explanation for his progress; that the constant finding and refinding of one’s balance on top of a moving horse stimulates the brain. But what happened next has no rational explanation. Later that year, when Rowan was three, Isaacson brought a group of bushmen from Botswana to the United Nations in New York to protest against land being lost to diamond mining. Their chief shaman, or “wise man”, performed a healing ritual on Rowan. “It was extraordinary,” says his father. “For five days or so it really was like having a normal kid. Rowan’s symptoms started to fall away. The problem was as soon as we went home he tumbled back into the autism.”
After the “healing”, Isaacson’s mind locked onto what he believed was a “logical” question: was there a place that combined horses and shamanism, the two things to which Rowan had best responded? Yes, there was: Mongolia.
Despite Kristin’s reservations, he started planning a trip. He also put together a book proposal which to his astonishment – and perhaps echoing the success of The Horse Whisperer – set the publishing world alight. The Horse Boy had sold to 20 countries andt will be published in Britain next month. Over the Hills and Far Away, a documentary filmed en route, recently had its premiere at the Sundance film festival. The crew that travelled with them seemed an unwelcome encumbrance sometimes, but proved a godsend, says Isaacson: “If we’d gone alone and just reported what had happened, people could have said it was wishful thinking, but it’s there on film – there’s no question of having made this up.”
It’s a key point, for without those wit-nesses this story would be hard to believe, reliant as it is on the power of primitive and little-understood ceremonies. In tribal societies the shaman takes a social, political or health dilemma to the spirit world and comes back from his or her trance with instructions. Although Isaacson claims to have been sceptical when he first encountered healers among the bushmen of South Africa – “I certainly thought at the start it was going to be more a cultural thing than an actual system of medicine” – he also believes that shamanic healing works.
“Once you’ve seen enough people with cancer, or snake bites, or dementia or whatever, healed – and the doctors scratching their heads and saying we don’t know where the tumour’s gone, you come to realise it’s a pretty valid system.”
He’s well aware of how flaky this makes him sound: “It’s outside of our ken because although we did have some of these systems in European culture we destroyed them. In the Middle Ages we burnt every village herbalist, let alone shaman. People might think all this is airy-fairy, but bushmen are very practical people: they live in the desert . . . they don’t do anything unless it serves a practical purpose.
“And just remember the bushmen won the largest land claim in South African history with pretty much all their decisions based on someone going into a trance and asking advice from the ancestor spirits.”
To western eyes the ceremonies they underwent appear bizarre. One Mongolian shaman told them Rowan had been touched by “black energy” in the womb and it was necessary to draw this negative energy away. Another prescribed fermented goat’s milk. A female shaman beat on a drum while summoning spirits with a whirling, dancing prayer. They were hit with reindeer horns and spattered with vodka.
Yet at the end of the first day, Rowan wandered towards a group of onlookers. “It almost sounds as though it was scripted,” says Isaacson, “but he reaches out to this kid who’s at the fringes of the healing circle and says, ‘Mongolian brother’.” Tomoo, the son of the family’s interpreter, had just become Rowan’s first friend.
As their trek across Mongolia continued, so did Rowan’s progress, despite setbacks – intermittent tantrums that saw him refuse to go near a horse and reduced his father almost to despair. At last they reached the so-called Reindeer people, reputed to have the most powerful shamans. After a ceremony there, Rowan’s incontinence was apparently cured.
Rowan is seven now. He is educated at New Trails, a special centre set up by his parents near Austin, Texas, with the money from their publishing advance. “Three months ago he had no maths, now he’s exactly where he should be,” Isaacson says. “He’s started drawing. He’s doing chores to save up for a baby chick. We went away to Mongolia with a kid who was subject to neurological fits, who was incontinent and completely cut off from his peers. He is still autistic, but he’s no longer suffering from these major dysfunctions which were impairing his quality of life – and ours.”
Are there lessons for other desperate parents? Isaacson believes the key to Rowan’s improvement is his connection to animals and nature. He plans to put him through a shamanic ceremony every year, but accepts that this is an Isaacson idiosyncrasy that does not necessarily chime with others. At the New Trails centre, autistic children are given time to spend with horses, rabbits and goats. One of the problems with the endless round of behavioural and occupational therapy Rowan had in his early years was his rigidity, Isaccson says; at New Trails the children can interact with the animals at their own pace.
He would like to set up similar centres in Britain and is riding with Rowan from the Uffington white horse to Avebury in Wiltshire in a fortnight’s time to raise money for an autism programme being launched by Riding for the Disabled.
“Not just autistic kids, but emotionally disturbed kids, or just kids can benefit from being near horses,” he says. “One of the problems of urban life is there’s a perception that horses are a rich man’s thing.”
Would Rowan’s symptoms have subsided anyway? Was it the horse that healed him or the shamans? “We’re not extremists, we followed every single orthodox western therapy under the sun and we still do. We just didn’t see the same radical response. If we had we would have said so.” Yet such is the change in Rowan that his father dares to hope for some sort of conventional future: “He’ll always be quirky, but I now think some day some woman might realise how cute he is and take him on.”
The Horse Boy: A Father’s Miraculous Journey to Heal His Son by Rupert Isaacson will be published by Viking on March 5 at £12.99. Copies can be ordered for £11.69, including postage and packing, from The Sunday Times BooksFirst on 0845 271 2135

Friday, February 20, 2009

Alex is right on and asks an excellent question

Who suffers in ignorance and who profits and why hasn't the public been told how to avoid autism, Alzheimer's, diabetes, MS, hemophilia, schizophrenia, autism and cancers in their offspring?
« GENETICS QUESTIONS! (please give me some work as to how you figured these out)?

Why are the wealthy corporate monied families in America funding the research at genome labs?

Alex asked: Are genetic disease and disorders caused by older paternal age and will there never be cures or for Alzheimer’s, diabetes, MS, hemophilia, autism, schizophrenia,cancers because in non-familial cases they are basic degradations of the human genome caused by genetic copy number variations?

Related posts
if you have type 2 diabetes, do you have hemophilia? (5)
How is Queen Elizabeth in such good health? (22)
Is there any way you can have diabetes and hemophilia? (2)


Saturday, February 14, 2009

Men Must Contend With a Biological Clock, Too Older males face higher risk of fathering children with medical problems, research finds

Men Must Contend With a Biological Clock, Too Older males face higher risk of fathering children with medical problems, research finds
By Kathleen DohenyHealthDay Reporter
SATURDAY, Feb. 14 (HealthDay News) -- It wasn't all that long ago that any suggestion that a man had a "biological clock" like a woman, and should father children sooner rather than later, would have been given short scientific shrift.
Not anymore. Today, a growing body of evidence suggests that as men get older, fertility can and does decline, while the chances of fathering a child with serious birth defects and medical problems increase.
Some studies have linked higher rates of serious health problems such as autism and schizophrenia in children born to men as young as their mid-40s.
And doctors and researchers are busy trying to figure out how men who choose to delay fatherhood -- either by choice or necessity, such as a lack of a partner -- can offset the effects of their biological clocks as those clocks wind down.
Interestingly, problems with reduced fertility can start long before middle age, said Dr. Harry Fisch, one of the pioneers in the field in male fertility and director of the Columbia University College of Physicians and Surgeons' Male Reproductive Center, in New York City.
"We know after age 30, testosterone levels decline about 1 percent per year," said Fisch, author of the book The Male Biological Clock.
Research done at the University of Washington has found that "as men age, DNA damage occurs to their sperm," said Dr. Narendra P. Singh, a research associate professor in the department of bioengineering, who co-authored a study on the subject.
Several other studies point to problems in the offspring of older fathers, as well as older men experiencing fertility problems.
For instance, Fisch and his colleagues found that if a woman and a man were both older than age 35 at the time of conception, the father's age played a significant role in the prevalence of Down syndrome. And this effect was most detectable if the woman was 40 or older -- the incidence of Down syndrome was about 50 percent attributable to the sperm.
Other researchers have found that children born to fathers 45 or older are more likely to have poor social skills, and that children born to men 55 and older are more likely to have bipolar disorder than those born to men 20 to 24 years of age at the time of conception.
On other fronts, researchers at Mount Sinai School of Medicine in New York City found that children of men aged 40 or older were about six times more likely to have autism. Still another study found that the children of fathers who were 50 or older when they were born were almost three times more likely to be diagnosed with schizophrenia.
But Fisch did say, "The sooner, the better."

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Friday, February 13, 2009

Age of the Father and the Health of Future Generations

Leslie B. Raschka, MD: "The age of the father is an important determinant of the health of future generations. Children conceived by fathers older than 34 years of age are at increased risk for genetic illness due to recent mutation in the male germ cell. The ageing process in the male is an important, probably the most important, cause of genetic illness in human populations."


By Cindy Haines, M.D.,

Gender equality: Aging egg and sperm are both problematic

By Cindy Haines, M.D., Special to the Beacon
Posted 10:30 a.m. Fri., Feb. 13 - The trend is clear. Women and men are postponing starting -- or adding to -- their families until their mid to late 30's and beyond. While the proverbial biological clock has historically been in reference solely to females, a growing body of evidence points to a tick-tick factor for males, as well. The number of births in the United States to men aged 40 to 49 has almost tripled between 1980 and 2004, according to the National Center for Health Statistics, making this biological clock analysis more relevant than ever.
Aging dad and infertility
When one thinks of infertility, thoughts may go directly to the female, with a secondary thought of whether or not the male is able to produce viable sperm. If sperm production is a "go", a common assumption may be made that difficulties conceiving or delivering a healthy baby are factors resting exclusively on the woman. Not necessarily so, according to accumulating data on the subject.
In an analysis of couples struggling with fertility problems, lower pregnancy rates and increased risk of miscarriage were seen in cases whereupon the man was age 35 and older. This finding comes from study presented in 2008 at the European Society of Human Reproduction and Embryology annual conference in Barcelona.
French researchers studied over 12,000 couples seeking care at a fertility clinic where the majority was being treated due to the man's infertility. Collectively, the couples underwent a total of 21,239 intrauterine inseminations (IUIs). Not surprisingly, women over age 35 had a reduced pregnancy rate compared to younger women (8.9 vs. 14.5 percent, respectively).
"But we also found that the age of the father was important in pregnancy rates -- men over 35 had a negative effect. And, perhaps more surprisingly, miscarriage rates increased where the father was over 35," said Dr. Stephanie Belloc, of the Eylau Center for Assisted Reproduction in Paris and author of the study. "Our research proves for the first time that there is a strong paternal age-related effect on IUI outcomes, and this information should be considered by both doctors and patients in assisted reproduction outcomes."
Dr. Peter Ahlering, medical director of SHER Institutes for Reproductive Medicine in St. Louis, agrees that age of would-be fathers may well have an effect on successful pregnancies. "Much of this impact is likely due to environmental exposures which may have an impact on sperm quality," he said
More information
The American Society for Reproductive Medicine on infertility
SHER-St. Louis
Archives of General Psychiatry:
Abstract - Frans
Full Text (subscription or payment may be required)
Ahlering uses HRSS -- high resolution sperm selection -- in the quest for the highest quality sperm. "You can select out under high magnification the sperm to use during [assisted reproductive technologies]," he explains. "You can select out sperm with visible abnormalities which has the effect of increasing fertilization efforts." And the chance of a healthy baby, to boot.
Aging dad and mental illness in his offspring
Advanced paternal age has also been linked with an increased risk of birth defects, including cleft palate and dwarfism. Recent reports have also suggested that children of men who were 40 or older may be up to 6 times more likely to develop autism, jumping to a nine-fold risk when the father's age reaches 50 and beyond. Other mental illness seen more commonly in offspring of aging dads: schizophrenia. A child born to a 40-year-old father may have double the risk of schizophrenia than if the child is born to a father 30 years old or younger.
Children of older fathers may also have a higher risk of bipolar disorder (alternating bouts of mania and depression), according to the results of research published in the September issue of the Archives of General Psychiatry. Over 13,420 subjects with a diagnosis of bipolar disorder were studied. Children of men who were at least 55 years old had a 37 percent greater chance of a bipolar diagnosis compared to children of men ages 20 to 24. The risk was even greater in cases of early-onset disease, suggesting greater severity of disease linked with advancing paternal age.


Economic Stimulus Bill Mandates $954 Million for Vaccinations,

Economic Stimulus Bill Mandates $954 Million for Vaccinations, $545 Million for "Genomics Programs"Thursday, February 12, 2009 by: Mike Adams, the Health Ranger, NaturalNews EditorKey concepts: Health, Economic stimulus bill and Economic stimulus

Email this articl(NaturalNews) While the Obama administration is attempting to pass the American Recovery and Reinvestment Act of 2009 in a hurry, NaturalNews readers have begun actually reading the bill, and they're finding some worrying language that should raise concern among people interested in preserving health freedom and protecting the health of all Americans.Specifically, one section of the economic stimulus bill designates nearly a billion dollars for new vaccinations of children. This was discovered by Elisha Celeste, a NaturalNews reader. As stated in the bill:$954,000,000 shall be used as an additional amount to carry out the immunization program authorized by section 317(a), (j), and (k)(1) of the Public Health Service Act ("section 317 immunization program")The issue of whether vaccinations are actually helpful or harmful is hotly debated, of course. The pro-vaccine camp believes that the human immune system is a technological failure and that chemical intervention is the only way to protect children. The anti-vaccine camp believes that exposure to non-fatal infections actually strengthens the immune system, creating stronger protections against future infections. Thus, vaccines actually interfere with normal, healthy immune function while injecting children with dangerous chemicals and substances derived from sick, diseased animals.NaturalNews is against childhood vaccines as explained in this article that completely debunks conventional beliefs about vaccinations:
Genomics programs?The economic stimulus bill also requests more than half a billion dollars for "genomics programs", saying:$545,000,000 shall be used as an additional amount to carry out chronic disease, health promotion, and genomics programsWhat's interesting about this last quote is that it essentially says this half a billion dollars should be used to carry out three things:1) Chronic disease programs2) Health promotion3) Genomics programsI don't have a problem with the second point. "Health promotion" sounds good (unless it's nothing more than mammograms and mental health screening programs designed to sell more chemotherapy and psych drugs). But what, exactly, is meant by the phrase " carry out chronic disease"? And what is meant by "genomics programs"? Are we talking about government-funded genetic experimentation on human babies, perhaps? It wouldn't be the first time. See:


Cause of autism, schizophrenia and bipolar de novo

Schizophrenia Risk and the Paternal Germ Line
By Dolores Malaspina

Paternal age at conception is a robust risk factor for schizophrenia. Possible mechanisms include de novo point mutations or defective epigenetic regulation of paternal genes. The predisposing genetic events appear to occur probabilistically (stochastically) in proportion to advancing paternal age, but might also be induced by toxic exposures, nutritional deficiencies, suboptimal DNA repair enzymes, or other factors that influence the

fidelity of genetic information in the constantly replicating male germ line. We propose that de novo genetic alterations in the paternal germ line cause an independent and common variant of schizophrenia.

Seminal findings
We initially examined the relationship between paternal age and the risk for schizophrenia because it is well established that paternal age is the major source of de novo mutations in the human population, and most schizophrenia cases have no family history of psychosis. In 2001, we demonstrated a monotonic increase in the risk of schizophrenia as paternal age advanced in the rich database of the Jerusalem Perinatal Cohort. Compared with the offspring of fathers aged 20-24 years, in well-controlled analyses, each decade of paternal age multiplied the risk for schizophrenia by 1.4 (95 percent confidence interval: 1.2-1.7), so that the relative risk (RR) for offspring of fathers aged 45+ was 3.0 (1.6-5.5), with 1/46 of these offspring developing schizophrenia. There were no comparable maternal age effects (Malaspina et al., 2001).

Epidemiological evidence
This finding has now been replicated in numerous cohorts from diverse populations (Sipos et al., 2004; El-Saadi et al., 2004; Zammit et al., 2003; Byrne et al., 2003; Dalman and Allenbeck, 2002; Brown et al., 2002; Tsuchiya et al., 2005). By and large, each study shows a tripling of the risk for schizophrenia for the offspring of the oldest group of fathers, in comparison to the risk in a reference group of younger fathers. There is also a "dosage effect" of increasing paternal age; risk is roughly doubled for the offspring of men in their forties and is tripled for paternal age >50 years. These studies are methodologically sound, and most of them have employed prospective exposure data and validated psychiatric diagnoses. Together they demonstrate that the paternal age effect is not explained by other factors, including family history, maternal age, parental education and social ability, family social integration, social class, birth order, birth weight, and birth complications. Furthermore, the paternal age effect is specific for schizophrenia versus other adult onset psychiatric disorders. This is not the case for any other known schizophrenia risk factor, including many of the putative susceptibility genes (Craddock et al., 2006).

There have been no failures to replicate the paternal age effect, nor its approximate magnitude, in any adequately powered study. The data support the hypothesis that paternal age increases schizophrenia risk through a de novo genetic mechanism. The remarkable uniformity of the results across different cultures lends further coherence to the conclusion that this robust relationship is likely to reflect an innate human biological phenomenon that progresses over aging in the male germ line, which is independent of regional environmental, infectious, or other routes.

Indeed, the consistency of these data is unparalleled in schizophrenia research, with the exception of the increase in risk to the relatives of schizophrenia probands (i.e., 10 percent for a sibling). Yet, while having an affected first-degree relative confers a relatively higher risk for illness than having a father >50 years (~10 percent versus ~2 percent), paternal age explains a far greater portion of the population attributable risk for schizophrenia. This is because a family history is infrequent among schizophrenia cases, whereas paternal age explained 26.6 percent of the schizophrenia cases in our Jerusalem cohort. If we had only considered the risk in the cases with paternal age >30 years, our risk would be equivalent to that reported by Sipos et al. (2004) in the Swedish study (15.5 percent). When paternal ages >25 years are considered, the calculated risk is much higher. Although the increment in risk for fathers age 26 through 30 years is small (~14 percent), this group is very large, which accounts for the magnitude of their contribution to the overall risk. The actual percentage of cases with paternal germ line-derived schizophrenia in a given population will depend on the demographics of paternal childbearing age, among other factors. With an upswing in paternal age, these cases would be expected to become more prevalent.

Biological plausibility
We used several approaches to examine the biological plausibility of paternal age as a risk factor for schizophrenia. First, we established a translational animal model using inbred mice. Previously it had been reported that the offspring of aged male rodents had less spontaneous activity and worse learning capacity than those of mature rodents, despite having no noticeable physical anomalies (Auroux et al., 1983). Our model carefully compared behavioral performance between the progeny of 18-24-month-old sires with that of 4-month-old sires. We replicated Auroux's findings, demonstrating significantly decreased learning in an active avoidance test, less exploration in the open field, and a number of other behavioral decrements in the offspring of older sires (Bradley-Moore et al., 2002).

Next, we examined if parental age was related to intelligence in healthy adolescents. We reasoned that if de novo genetic changes can cause schizophrenia, there might be effects of later paternal age on cognitive function, since cognitive problems are intertwined with core aspects of schizophrenia. For this study, we cross-linked data from the Jerusalem birth cohort with the neuropsychological data from the Israeli draft board (Malaspina et al., 2005a). We found that maternal and paternal age had independent effects on IQ scores, each accounting for ~2 percent of the total variance. Older paternal age was exclusively associated with a decrement in nonverbal (performance) intelligence IQ, without effects on verbal ability, suggestive of a specific effect on cognitive processing. In controlled analyses, maternal age showed an inverted U-shaped association with both verbal and performance IQ, suggestive of a generalized effect.

Finally, we examined if paternal age was related to the risk for autism in our cohort. We found very strong effects of advancing paternal age on the risk for autism and related pervasive developmental disorders (Reichenberg et al., in press). Compared to the offspring of fathers aged 30 years or younger, the risk was tripled for offspring of fathers in their forties and was increased fivefold when paternal age was >50 years. Together, these studies provide strong and convergent support for the hypothesis that later paternal age can influence neural functioning. The translational animal model offers the opportunity to identify candidate genes and epigenetic mechanisms that may explain the association of cognitive functioning with advancing paternal age.

A variant of schizophrenia
A persistent question is whether the association of paternal age and schizophrenia could be explained by psychiatric problems in the parents that could both hinder their childbearing and be inherited by their offspring. If this were so, then cases with affected parents would have older paternal ages. This has not been demonstrated. To the contrary, we found that paternal age was 4.7 years older for sporadic than familial cases from our research unit at New York State Psychiatric Institute (Malaspina et al., 2002). In addition, epidemiological studies show that advancing paternal age is unrelated to the risk for familial schizophrenia (Byrne et al., 2003; Sipos et al., 2004). For example, Sipos found that each subsequent decade of paternal age increased the RR for sporadic schizophrenia by 1.60 (1.32 to 1.92), with no significant effect for familial cases (RR = 0.91, 0.44 to 1.89). The effect of late paternal age in sporadic cases was impressive. The offspring of the oldest fathers had a 5.85-fold risk for sporadic schizophrenia (Sipos et al., 2004); relative risks over 5.0 are very likely to reflect a true causal relationship (Breslow and Day, 1980).

It is possible that the genetic events that occur in the paternal germ line are affecting the same genes that influence the risk in familial cases. However, there is evidence that this is not the case. First, a number of the loci linked to familial schizophrenia are also associated with bipolar disorder (Craddock et al., 2006), whereas advancing paternal age is specific for schizophrenia (Malaspina et al., 2001). Next, a few genetic studies that separately examined familial and sporadic cases found that the "at-risk haplotypes" linked to familial schizophrenia were unassociated with sporadic cases, including dystrobrevin-binding protein (Van Den Bogaert et al., 2003) and neuregulin (Williams et al., 2003). Segregating sporadic cases from the analyses actually strengthened the magnitude of the genetic association in the familial cases, consistent with etiological heterogeneity between familial and sporadic groups.

Finally, the phenotype of cases with no family history and later paternal age are distinct from familial cases in many studies. For example, only sporadic cases showed a significant improvement in negative symptoms between a "medication-free" and an "antipsychotic treatment" condition (Malaspina et al., 2000), and sporadic cases have significantly more disruptions in their smooth pursuit eye movement quality than familial cases (Malaspina et al., 1998). A recent study also showed differences between the groups in resting regional cerebral blood flow (rCBF) patterns, in comparison with healthy subjects. The sporadic group of cases had greater hypofrontality, with increased medial temporal lobe activity (frontotemporal imbalance), while the familial group evidenced left lateralized temperoparietal hypoperfusion along with widespread rCBF changes in cortico-striato-thalamo-cortical regions (Malaspina et al., 2005b). Other data linking paternal age with frontal pathology in schizophrenia include a proton magnetic resonance spectroscopy study that demonstrated a significant association between prefrontal cortex neuronal integrity (NAA) and paternal age in sporadic cases only, with no significant NAA decrement in the familial schizophrenia group (Kegeles et al., 2005). These findings support the hypothesis that schizophrenia subgroups may have distinct neural underpinnings and that the important changes in some sporadic (paternal germ line) cases may particularly impact on prefrontal cortical functioning.

Genetic mechanism
Several genetic mechanisms might explain the relationship between paternal age and the risk for schizophrenia (see Malaspina, 2001). It could be due to de novo point mutations arising in one or several schizophrenia susceptibility loci. Paternal age is known to be the principal source of new mutations in mammals, likely explained by the constant cell replication cycles that occur in spermatogenesis (James Crow, 2000). Following puberty, spermatogonia undergo some 23 divisions per year. At ages 20 and 40, a man's germ cell precursors will have undergone about 200 and 660 such divisions, respectively. During a man's life, the spermatogonia are vulnerable to DNA damage, and mutations may accumulate in clones of spermatogonia as men age. In contrast, the numbers of such divisions in female germ cells is usually 24, all but the last occurring during fetal life.

Trinucleotide repeat expansions could also underlie the paternal age effect. Repeat expansions have been demonstrated in several neuropsychiatric disorders, including myotonic dystrophy, fragile X syndrome, spinocerebellar ataxias, and Huntington disease. The sex of the transmitting parent is frequently a major factor influencing anticipation, with many disorders showing greater trinucleotide repeat expansion with paternal inheritance (Lindblad and Schalling, 1999; Schols et al., 2004; Duyao et al., 1993). Larger numbers of repeat expansions could be related to chance molecular events during the many cell divisions that occur during spermatogenesis.

Later paternal age might confer a risk for schizophrenia if it was associated with errors in the "imprinting" patterns of paternally inherited alleles. Imprinting is a form of gene regulation in which gene expression in the offspring depends on whether the allele was inherited from the male or female parent. Imprinted genes that are only expressed if paternally inherited alleles are reciprocally silenced at the maternal allele, and vice versa. Imprinting occurs during gametogenesis after the methylation patterns from the previous generation are "erased" and new parent of origin specific methylation patterns are established. Errors in erasure or reestablishment of these imprint patterns may lead to defective gene expression profiles in the offspring. The enzymes responsible for methylating DNA are the DNA methyltransferases, or DNMTs. These enzymes methylate cytosine residues in CpG dinucleotides, usually in the promoter region of genes, typically to reduce the expression of the mRNA. The methylation may become inefficient for a variety of reasons; one possibility is reduced DNA methylation activity in spermatogenesis, since DNMT levels diminish as paternal age increases (Benoit and Trasler, 1994; La Salle et al., 2004). Another possible mechanism is that this declining DNMT activity could be epigenetically transmitted to the offspring of older fathers. There are a number of different DNMTs that differ in whether they initiate or sustain methylation, and which are active at different ages and in different tissues.

Human imprinted genes have a critical role in the growth of the placenta, fetus, and central nervous system, in behavioral development, and in adult body size. It is an appealing hypothesis that loss of normal imprinting of genes critical to neurodevelopment may play a role in schizophrenia. Indeed, one of the most consistently identified molecular abnormalities in schizophrenia has been theorized to result from abnormal epigenetic mechanisms (Veldic et al., 2004), that is, the reduced GABA and reelin expression in prefrontal GABAergic interneurons. An overexpression of DNMT in these GABAergic interneurons, hypermethylating the reelin and GAD67 promoter regions, might be responsible for reducing their mRNA transcripts and expression levels. These decrements could functionally impair the role of GABAergic interneurons in regulating the activity and firing of pyramidal neurons, thereby causing cognitive dysfunction. Later paternal age could be related to the abnormal regulation or expression of DNMT activity in specific cells.

These findings suggest exciting new directions for research into the etiology of schizophrenia. If there is a unitary etiopathology for paternal age-related schizophrenia, then it is likely to be the most common form of the condition in the population and in treatment settings, since genetic linkage and association studies indicate that familial cases are likely to demonstrate significant allelic heterogeneity and varying epistatic effects. Schizophrenia is commonly considered to result from the interplay between genetic susceptibility and environmental exposures, particularly those that occur during fetal development and in adolescence. The data linking paternal age to the risk for schizophrenia indicate that we should expand this event horizon to consider the effects of environmental exposures over the lifespan of the father. The mutational stigmata of an exposure may remain in a spermatogonial cell, and be manifest in the clones of spermatozoa that it will subsequently generate over a man's reproductive life.

Auroux M. Decrease of learning capacity in offspring with increasing paternal age in the rat. Teratology. 1983 Apr;27(2):141-8. Abstract

Benoit G, Trasler JM. Developmental expression of DNA methyltransferase messenger ribonucleic acid, protein, and enzyme activity in the mouse testis. Biol Reprod. 1994 50:1312-9. Abstract

Bradley-Moore M, Abner R, Edwards T, Lira J, Lira A, Mullen T, Paul S, Malaspina D, Brunner D, Gingrich JA. Modeling The Effect Of Advanced Paternal Age On Progeny Behavior In Mice. Developmental Psychobiology, abstract, 2002; (41)3, 230.

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Brown AS, Schaefer CA, Wyatt RJ, Begg MD, Goetz R, Bresnahan MA, Harkavy-Friedman J, Gorman JM, Malaspina D, Susser ES. Paternal age and risk of schizophrenia in adult offspring. Am J Psychiatry. 2002 Sep;159(9):1528-33. Abstract

Byrne M, Agerbo E, Ewald H, Eaton WW, Mortensen PB. Parental age and risk of schizophrenia: a case-control study. Arch Gen Psychiatry. 2003 Jul;60(7):673-8. Abstract

Crow JF (1997). The high spontaneous mutation rate: is it a health risk? Proc Natl Acad Sci USA 94:8380-8386.

Craddock N, O'Donovan MC, Owen MJ. Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology. Schizophr Bull. 2006 Jan;32(1):9-16. Abstract

Dalman C, Allebeck P. Paternal age and schizophrenia: further support for an association. Am J Psychiatry. 2002 Sep;159(9):1591-2. Abstract

Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet. 1993 Aug;4(4):387-92. Abstract

El-Saadi O, Pedersen CB, McNeil TF, Saha S, Welham J, O'Callaghan E, Cantor-Graae E, Chant D, Mortensen PB, McGrath J. Paternal and maternal age as risk factors for psychosis: findings from Denmark, Sweden and Australia.Schizophr Res. 2004 Apr 1;67(2-3):227-36. Abstract

Kegeles LS, Shungu DC, Mao X, Goetz R, Mikell CB, Abi-Dargham A, Laurelle M, Malaspina D. Relationship of age and paternal age to neuronal functional integrity in the prefrontal cortex in schizophrenia determined by proton magnetic resonance spectroscopy. Schizophrenia Bulletin, 31:443; 2005.

La Salle S, Mertineit C, Taketo T, Moens PB, Bestor TH, Trasler JM. Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells. Dev Biol. 2004 268:403-15. Abstract

Lindblad K, Schalling M. Expanded repeat sequences and disease. Semin Neurol. 1999;19(3):289-99. Abstract

Malaspina D, Friedman JH, Kaufmann C, Bruder G, Amador X, Strauss D, Clark S, Yale S, Lukens E, Thorning H, Goetz R, Gorman J. Psychobiological heterogeneity of familial and sporadic schizophrenia. Biol Psychiatry. 1998 Apr 1;43(7):489-96. Abstract

Malaspina D, Goetz RR, Yale S, Berman A, Friedman JH, Tremeau F, Printz D, Amador X, Johnson J, Brown A, Gorman JM. Relation of familial schizophrenia to negative symptoms but not to the deficit syndrome. Am J Psychiatry. 2000 Jun;157(6):994-1003. Abstract

Malaspina D, Harlap S, Fennig S, Heiman D, Nahon D, Feldman D, Susser ES. Advancing paternal age and the risk of schizophrenia. Arch Gen Psychiatry. 2001 Apr;58(4):361-7. Abstract

Malaspina D. Paternal factors and schizophrenia risk: de novo mutations and imprinting. Schizophr Bull. 2001;27(3):379-93. Review. Abstract

Malaspina D, Corcoran C, Fahim C, Berman A, Harkavy-Friedman J, Yale S, Goetz D, Goetz R, Harlap S, Gorman J. Paternal age and sporadic schizophrenia: evidence for de novo mutations. Am J Med Genet. 2002 Apr 8;114(3):299-303. Abstract

Malaspina D, Harkavy-Friedman J, Corcoran C, Mujica-Parodi L, Printz D, Gorman JM, Van Heertum R. Resting neural activity distinguishes subgroups of schizophrenia patients. Biol Psychiatry. 2005 (a) Dec 15;56(12):931-7. Abstract

Malaspina D, Reichenberg A, Weiser M, Fennig S, Davidson M, Harlap S, Wolitzky R, Rabinowitz J, Susser E, Knobler HY. Paternal age and intelligence: implications for age-related genomic changes in male germ cells. Psychiatr Genet. 2005 (b) Jun;15(2):117-25. Abstract

Reichenberg A, Gross R, Weiser M, Bresnahan M, Silverman J, Harlap, Rabinowitz J, Shulman L, Malaspina D, Lubin G, Knobler HY, Davidson M, Susser E: Advancing paternal age and Autism. Archives of General Psychiatry.

Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004 May;3(5):291-304. Abstract

Sipos A, Rasmussen F, Harrison G, Tynelius P, Lewis G, Leon DA, Gunnell D. Paternal age and schizophrenia: a population based cohort study. BMJ. 2004 Nov 6;329(7474):1070. Epub 2004 Oct 22. Abstract

Tsuchiya KJ, Takagai S, Kawai M, Matsumoto H, Nakamura K, Minabe Y, Mori N, Takei N. Advanced paternal age associated with an elevated risk for schizophrenia in offspring in a Japanese population. Schizophr Res. 2005 Jul 15;76(2-3):337-42. Epub 2005 Apr 21. Abstract

Van Den Bogaert A, Schumacher J, Schulze TG, Otte AC, Ohlraun S, Kovalenko S, Becker T, Freudenberg J, Jonsson EG, Mattila-Evenden M, Sedvall GC, Czerski PM, Kapelski P, Hauser J, Maier W, Rietschel M, Propping P, Nothen MM, Cichon S. The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am J Hum Genet. 2003 Dec;73(6):1438-43. Abstract

Veldic M, Caruncho HJ, Liu WS, Davis J, Satta R, Grayson DR, Guidotti A, Costa E. DNA-methyltransferase 1 mRNA is selectively overexpressed in telencephalic GABAergic interneurons of schizophrenia brains. Proc Natl Acad Sci U S A. 2004 Jan 6;101(1):348-53. Abstract

Williams NM, Preece A, Spurlock G, Norton N, Williams HJ, Zammit S, O'Donovan MC, Owen MJ. Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia. Mol Psychiatry. 2003 May;8(5):485-7. Abstract

Zammit S, Allebeck P, Dalman C, Lundberg I, Hemmingson T, Owen MJ, Lewis G. Paternal age and risk for schizophrenia. Br J Psychiatry. 2003 Nov;183:405-8. Abstract


Thursday, February 12, 2009

New test for mitochondrial disease

Feb 11, 2009 10:15 AM in Biology |
New test for mitochondrial disease
By Coco Ballantyne in 60-Sediseasecond Science Blog

Researchers may have discovered a new way to monitor mitochondrial diseases, a spectrum of disorders caused by genetic errors in mitochondria, the fuel-burning factories within cells that produce energy necessary for life. A new study reveals that people with these diseases may be deficient in glutathione, a toxin-fighting molecule made by the body that helps repair damage wrought by wayward mitochondria.

"We found very clearly that the glutathione levels were low in our mitochondrial disease patients," says Gregory Enns, a pediatrician and geneticist at Stanford University in Palo Alto, Calif. and coauthor of the study published this week in the online edition of the Proceedings of the National Academy of Sciences. By measuring blood levels of glutathione, researchers may be able to assess the severity of a patient's disease and gauge how well therapies are working, Enns notes.


Wednesday, February 11, 2009

The witch-hunt against Andrew Wakefield Melanie Phillips

The witch-hunt against Andrew Wakefield
Wednesday, 11th February 2009

The Sunday Times last weekend resumed its witch-hunt against Andrew Wakefield, the gastro-enterologist who warned against the possible risks to children of the MMR vaccine following a paper he wrote in the Lancet in 1998. In this paper, he described a new childhood syndrome which he called autistic enterocolitis, which suggested a connection between a new type of bowel disease and autistic spectrum disorder and reported the fact that some of the parents of the children in the study thought there was a connection between these symptoms and the MMR vaccine. The titanic furore which subsequently engulfed Wakefield, in which virtually the entire medical establishment turned on him, effectively forced him out of Britain and has resulted in his being investigated by the General Medical Council for serious misconduct.


Simons and Paternal Age Effect

Simons gift to fund autism research at MIT
February 11, 2009

Jim '58 and Marilyn Simons, along with the Simons Foundation, recently made a gift of $4.5 million to establish the Simons Initiative on Autism and the Brain at MIT. The new initiative will attract postdoctoral fellows, increase interest in autism research, and enhance collaboration among existing investigators. In addition, the funds will be used to purchase equipment to be shared by autism researchers at the Institute, support a colloquium series to raise awareness in the community, and fund pilot projects on innovative approaches for autism research.

The Simonses have made gifts totaling more than $10 million to MIT in the last four years in support of this work. The current gift will enhance the Simons Investigators program, which has increased the number of faculty working in the field.

"Through the Simons Foundation, Jim and Marilyn Simons have made vital progress in accelerating autism research. Their vision and determination have attracted an exceptional team of interdisciplinary researchers, and this latest gift will continue to support and inspire new approaches to understanding and treating Autism Spectrum Disorder (ASD)," said MIT President Susan Hockfield.

"The complex nature of autism necessitates an approach that transcends academic disciplines and will draw heavily on the basic sciences, engineering and genomics -- disciplines that are among the core strengths of MIT," said Mriganka Sur, the Paul E. Newton Professor of Neuroscience and head of the Department of Brain and Cognitive Sciences, who will lead the effort.

Current Simons Investigators include Sur, along with Mark Bear, John Gabrieli, Ann Graybiel, Rebecca Saxe, Morgan Sheng, Pawan Sinha, Hazel Sive, Li-Huei Tsai and Susumu Tonegawa.

A version of this article appeared in MIT Tech Talk on February 11, 2009 (download PDF).


Monday, February 09, 2009

Case Western Reserve research finds that the lack of specific gene plays role in autism

Case Western Reserve research finds that the lack of specific gene plays role in autism
Published: Monday, February 9, 2009 - 09:22 in Health & Medicine
Learn more about: autism spectrum disorders case western reserve university cole eye institute gary landreth intracellular signal transduction signal transduction pathway
It is estimated that three to six out of every 1,000 children in the United States have autism – and the number of diagnosed cases is rising. Autism is one of a group of series developmental problems called autism spectrum disorders (ASD) that appear in early childhood, usually before age 3. Through symptoms and severity vary, all autism disorders affect a child's ability to communicate and interact with others. It's not clear whether this is due to better detection and reporting of autism, a real increase in the number of cases, or both.

That's why researchers at Case Western Reserve University, led by Gary Landreth, a professor of neurosciences and neurology at the School of Medicine, have pulled together a number of recent findings that link a common genetic pathway with a number of human syndromes and a newly-recognized genetic form of autism, publishing them in the January 29, 2009, issue of the prestigious journal Neuron.

Landreth, whose research team is made up of partners from the Cole Eye Institute at the Cleveland Clinic, the Louis Stokes Cleveland VA Medical Center and the University of Pennsylvania, says his lab in particular has been researching the class of enzymes called ERKs (extracellular signal regulated kinase), which are the central elements of a major intracellular signal transduction pathway. His research team has found that in animal models the ERKs – known as ERK 1 and ERK 2 – are required for normal brain, heart and facial development.

This common genetic pathway that acts to regulate the ERK signaling cascade is particularly important in brain development, learning, memory and cognition. It has been recently reported that mutation or deletion of elements within this signaling pathway leads to developmental syndromes in humans that are associated with impaired cognitive function and autism.

According to Landreth, these syndromes, called neuro-craniofacial-cardiac syndromes (NCFCs), encompass a group of syndromes also typified by cardiac, craniofacial and neurological defects. Current research has found that they arise from mutations in the intracellular signaling pathway that regulates ERKs.

"Very recently it was discovered that 1 percent of autistic children have either a loss or duplication in a region of Chromosome 16 that encompasses the gene for ERK 1," said Landreth, who also serves as director of the School of Medicine's Alzheimer's Research Laboratory. "What no one else realized is that the autistic children also have craniofacial and cardiac defects just like those children with NCFC syndromes."

Thus, Landreth says, mutations within the ERK signaling pathway appears to be a common cause for NCFC syndromes and those children with autism due to genetic changes in chromosome 16.

"Unexplained is why loss of ERK 1 is associated with autism and other ERK pathway mutations cause mental retardation and similar diseases," he said. "Our contribution to the autism story is that we recognized it was just like the NCFC syndromes and we are hypothesizing that they all arise from defects within a single genetic pathway."

Source: Case Western Reserve University


Thursday, February 05, 2009

Mitochondrial disorders and Autism


February 05, 2009
MitoAction Teleconference on Autism and Mitochondrial Disease
Each month, MitoAction holds a toll-free, international teleconference to address topics important to the Mito community.

Join us, Friday February 6, 2009 at noon eastern time to discuss "AUTISM & MITOCHONDRIAL DISORDERS: HOW MUCH DO WE REALLY KNOW?" with guest speaker David Holtzman, M.D., Ph.D., Child Neurology, Massachusetts General Hospital.

MitoAction Meeting Details: Friday, February 6th
Noon eastern US time (find your time zone)
Toll-free 1-866-414-2828, participant code 017921

The possible relationship between metabolic disorders, elevated lactic acid levels, and features of autism spectrum disorder have been described in the medical literature since the early 90's. In fact, much research exploring the correlation between autism or ASD (autism spectrum disorder) and mitochondrial dysfunction has been published throughout the last decade, long before the Hannah Poling case (March 2008) brought the association to the public's attention.


Wednesday, February 04, 2009

Advanced parental age at birth is associated with poorer social functioning in adolescent males: shedding light on a core symptom of schizophrenia and


Schizophr Bull. 2008 Nov;34(6):1042-6. Epub 2008 Sep 15. Links
Advanced parental age at birth is associated with poorer social functioning in adolescent males: shedding light on a core symptom of schizophrenia and autism.Weiser M, Reichenberg A, Werbeloff N, Kleinhaus K, Lubin G, Shmushkevitch M, Caspi A, Malaspina D, Davidson M.
Department of Psychiatry, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.

BACKGROUND: Evidence indicates an association between older parents at birth and increased risk for schizophrenia and autism. Patients with schizophrenia and autism and their first-degree relatives have impaired social functioning; hence, impaired social functioning is probably an intermediate phenotype of the illness. This study tested the hypothesis that advanced father's age at birth would be associated with poorer social functioning in the general population. To test this hypothesis, we examined the association between parental age at birth and the social functioning of their adolescent male offspring in a population-based study. METHODS: Subjects were 403486, 16- to 17-year-old Israeli-born male adolescents assessed by the Israeli Draft Board. The effect of parental age on social functioning was assessed in analyses controlling for cognitive functioning, the other parent's age, parental socioeconomic status, birth order, and year of draft board assessment. RESULTS: Compared with offspring of parents aged 25-29 years, the prevalence of poor social functioning was increased both in offspring of fathers younger than 20 years (odds ratio [OR] = 1.27, 95% confidence interval [CI] = 1.08-1.49) and in offspring of fathers 45 years old (OR = 1.52, 95% CI = 1.43-1.61). Male adolescent children of mothers aged 40 years and above were 1.15 (95% CI = 1.07-1.24) times more likely to have poor social functioning. CONCLUSIONS: These modest associations between parental age and poor social functioning in the general population parallel the associations between parental age and risk for schizophrenia and autism and suggest that the risk pathways between advanced parental age and schizophrenia and autism might, at least partially, include mildly deleterious effects on social functioning.


Monday, February 02, 2009

Paternal age autism and other neurodevelopmental disorders due to older fathers can be prevented with education

Paternal age autism and other neurodevelopmental disorders due to older fathers can be prevented with education

Your Resolved QuestionShow me another »
If autism, schizophrenia, and bipolar risk rises with the age of the father, why not let people know?
-... The Father Factor Scientific American Mind Feb

Best Answer - Chosen by Asker
Money. There is no profit in teaching people prevention. When these babies are born with problems, they need medication, which generates a profit.

That's why they have refined sugar and artificial sweeteners in so many kids foods and drinks. That's why there is aspartame in nearly every gum and mint and diet soda in existence. When kids start showing signs of ADD and other problems, like depression (which aspartame causes, too) they then provide a solution.
18 hours ago
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