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Research partners claim they’re making leaps and bounds towards understanding autism
13 September, 2011 - English, The Autism News
The Autism News | English


OTTAWA — David Patchell-Evans says he felt powerless as he watched his daughter, Kilee, turn “literally overnight” from a sweet, friendly toddler into a three-year-old who would bite her little sister till she bled, who would wake up every night screaming, and who had suddenly lost all her vocabulary.
“You don’t know what to do — the behaviour is so mystifying,” he said. “It’s like you’re in the middle of a whirlpool and you feel like you’re sinking.”
The doctors diagnosed Kilee with autism, but Patchell-Evans said they couldn’t help her or offer much advice.
After years of “just coping,” Patchell-Evans, the owner of GoodLife Fitness Canada and a self-described “entrepreneur to the core,” started looking for his own answers.

In 2003, a friend introduced him to London, Ont.-based neuroscientist Derrick MacFabe, who had an as-yet untested theory about the cause of autism, which affects one in 90 Canadians.
After repeated unsuccessful attempts at getting funding through traditional government sources, MacFabe was searching for help.
The scientist and the CEO spent an afternoon discussing MacFabe’s theories, and Patchell-Evans’ experience with Kilee.
Patchell-Evans said MacFabe seemed honest about the fact he didn’t have the answers — “but he was asking the right questions.”
After a few hours, the two shook hands, as Patchell-Evans promised to fund MacFabe’s research, on two conditions: the research had to be conducted openly, with as much collaboration with other scientists as possible, and the resulting cure or treatment would be made widely available to anyone who needed it, at a fair price.

Since 2003, Patchell-Evans has given $4 million to the Kilee Patchell-Evans Autism Research Group (KPEARG), and has raised millions more through his friends and contacts in the business world.
Now the partners, and many of their peers, say they’re making leaps and bounds toward figuring out what causes autism, with a funding model that tests conventional thinking on scientific research.
MacFabe’s group — which is based at the University of Western Ontario in London — is getting ready to release more evidence that the overuse of antibiotics, which alters the balance of bacteria in the human gut, could create the conditions for autism in susceptible groups.
MacFabe uses his position at the university to make contact with autism researchers in a variety of specialties all over the world, hoping a collaboration in which all the information is immediately shared will lead to a faster answer to all of their questions — and a faster cure for autism.

Researchers at Harvard, UCLA, Queen’s, and universities in Sweden and Saudi Arabia all contribute their findings to the multi-disciplinary approach MacFabe insists will find the key to this disease.
Laurie Mawlam, executive director of Autism Canada and mother of an autistic child, is convinced.
She said the group is the only recipient of funding from Autism Canada because it is the first research that gives parents real hope that a cure is possible, and it’s the first time she said she feels the scientists are listening.
“It’s really groundbreaking work,” she said.

The National Science and Engineering Research Council of Canada named MacFabe’s university team and its research as one of the top 50 scientific discoveries in Canada in 2007, and he and his colleagues have published their work in peer-reviewed scientific publications such as Behavioural Brain Research, American Journal of Biochemistry and Biotechnology, and Neuropharmacology.
In a research field dominated by geneticists, MacFabe said he started wondering how autism affects the body and how the environment affects the disease.
“A key cornerstone of medicine is the history; listening to people, hearing their stories and then trying to figure out how it all connects to the disease,” he said. “Many of the parents of my patients felt they weren’t being listened to by their physicians.”

The Vancouver Sun

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I'm with them everyday and like you, I feel for the parents, they are truly angels and I never fail to tell them this.

This Saturday I'm going to visit a home where the mom has two boys,both are autistic. I do some work in their home from time to time as a volunteer to try and make it easier for the mom, it is really hard to see what she has to go through and when I hear others complain about how tough their life is, I have to bite my tongue.

Each time I visit their home, tears appear, mine.

I look forward to the day autism is eradicated.
cain
This (autism) is a very common disease with a wide spectrum of functioning.

It is most likely a group of diseases than a single entity. More common in boys - there is a strong familial link.

with siblings having as high as 15 - 20% chance of being affected. Really tough on the kid(s) as well as the parents.

A LOT more research needs to be done in this area...
FM
quote:
MacFabe’s group — which is based at the University of Western Ontario in London — is getting ready to release more evidence that the overuse of antibiotics, which alters the balance of bacteria in the human gut, could create the conditions for autism in susceptible groups



................................................
Interesting article. Keep us posted on the findings.

I have read about the theory of linking vaccines to autism, but that has not been proven yet.
FM
I have had countless vaccinations for everything on the planet and I can safely say my stupidity did not come from vaccinations. Kids get autism without being vaccinated too.
I suspect this is genetic to some degree.
TI
A mother’s shocking discovery
Written by Clifford Stanley
Saturday, 17 December 2011 20:47
FROM the time he was two years old, Keanu began displaying certain inexplicable behaviours. For example, he seemed to have problems in speaking, managing only two words: ‘Mommy’ and ‘Daddy’. Relatives would say, “But Keanu is a big boy; how come he is unable to say more than mommy and/or daddy?” Alicia would dismiss their queries by saying, “Oh, he’ll get over it.”
Secretly, she was perplexed by this development, but dismissed her misgivings with the firmly held view that it was normal for his age. Then there was his behaviour: At home, he was always climbing, jumping off the chairs and making the house look like a hurricane had passed through, with the cushions being lined up along the floor, and toys scattered all over the place.
Sometimes he would dismantle his toys, and when he found he couldn’t reassemble them, he would throw a tantrum, screaming, stomping, and hitting the walls with his fists whilst resisting every attempt to be placated. He would thereafter retire to the quietest corner of the house and sit curled up, rocking back and forth, silent tears streaming down his cheeks.
At playschool, he would keep to himself, paying no attention to what was happening around him, but doing things he liked, like singing or playing roly-poly, in total oblivion to his surroundings.


Mentally retarded?


The playschool teacher concluded that he was mentally retarded, but Alicia took umbrage at this conclusion, pointing out that in one day, her son had learnt to name the days of the week, and the very next day had learnt the names of the months of the year, and had proudly recited them for her when he returned home.
However, during that time, when she asked him how his day at school was, he couldn’t answer. But it was when he started nursery school that she began to take serious note of what was happening.
At nursery school, he would lie on the floor, kicking up and throwing terrible tantrums. He would eat with neither spoon nor fork, but would employ his bare hands in that endeavour.
Moreover, he would completely ignore the teacher’s instructions. If she gave him artwork, like painting, to do, he would instead do his own thing with the brush, smearing his face and hands.
For the teacher to get him to do as instructed, she had to hold his hand and move it. He would occasionally take off his socks and shoes, and try to strip himself naked. He would not play with the other children, but would push them away whenever they approached him.

Classic symptoms

Deeply disturbed at Keanu’s deteriorating behaviour, Alicia decided to investigate.
She has since found that her four-year-old son, who is generally a pleasant child, has been displaying the classic symptoms of autism.
Speaking to the Chronicle, she detailed her emotional journey from puzzlement to exasperation and sometimes anger at the child, to the point of understanding and providing emotional support for him, despite his sometimes outlandish behaviour; and of her great resolve to help him stay one step ahead of mental disability one day at a time.
Autism has been described as a brain development disorder that has no cure. It is mainly found in boys, but exists to a lesser extent in girls. Resulting from an almost divine combination of circumstances, Alicia has been able to find the Guyana Greenheart Autistic Society (GGAS), and she is now happy to get their support in treating with Keanu’s condition.
The GGAS is currently located at the Ptolemy Reid Polio Rehabilitation Centre on Carmichael Street in South Cummingsburg.
Alicia said that prior to coming to the conclusion that her son was autistic, she had no idea that help was so close at hand. “I had no idea that GGAS existed,” she said. “It was shortly after my conclusions that I read of the work of this Society in a newspaper article published in the Chronicle earlier this month.”
She has since been receiving advice from GGAS, and has consequently adopted a totally different response to her son. “It is not his fault. Prior to my knowing about autism, I used to be angry at him. I would bathe him, dress him up, and for a minute or two, when my back is turned, he would take off his clothes and be back in the bathroom. I used to yell at him, sometimes even spank him. But all of that is now over; I understand now, and I would hug him and say, ‘I know there is a problem, Keanu, but you and I will work it out together; You are gonna be fine.’”
The young mother says that apart from the careful nurturing of her son, her new mission in life is to educate people about what she currently knows about the disorder. Her aim is to enable parents and relatives to understand what to look for in order to be able to detect autism in those close to them, and to develop the correct approach to helping them cope.
“How many children drop out of school possibly because of autism? How many are deviant because of undetected autism? There may be many. We need to be able to find out and reach out to them; try to help them,” she said.


The Society

Apart from GGAS, there are no autism specialists in Guyana. Alicia is now a staunch supporter of the programmes and policies of the organization, which seeks to help the autistic.
The volunteers of the GGAS currently face a problem with accommodation, since the Society has to move from its current location at Carmichael Street by month-end. Another location has been identified, but the building itself is in need of repairs and sprucing up.
Alicia is one of the new members, and she is among those pushing for funds to help in the relocation endeavour. She is urging members of the public to make contact with executive
members of GGAS, and to make donations of cash and/or kind towards this absolutely worthy end.
Meanwhile, the daily challenges continue for her. Keanu likes to climb, and seems oblivious of the fact that he could hurt himself. His hyperactivity poses many challenges. He throws a tantrum as fiercely as ever, but Alicia says her new approach to his behaviour, based on her understanding of his disability, provides a few bright moments.
“I hug him; I tell him what a great guy he is, and I try to get as much audio-visual learning materials as I can, since he seems to learn more easily this way. And he responds favourably more often now than before.”
Another bright spot in the home is that despite his disability, Keanu has a special talent: He excels at singing, and can hold a note as flawlessly as any professional singer. His favourite song is the Whitney Houston ballad, ‘I Will Always Love You’.
Said Alicia:
"The thing I have learnt about autism is that it does not have a face; you cannot look at a child and determine from his appearance that he is autistic. Keanu is as pleasant a child as ever, until the disability takes over his behaviour."
Alicia will be enrolling Keanu at the Guyana Greenheart Autistic Society School in January, 2012. There, he can get more sympathetic and professional attention than is currently available in the general school system.
FM
Originally Posted by cain:
I'm with them everyday and like you, I feel for the parents, they are truly angels and I never fail to tell them this.

This Saturday I'm going to visit a home where the mom has two boys,both are autistic. I do some work in their home from time to time as a volunteer to try and make it easier for the mom, it is really hard to see what she has to go through and when I hear others complain about how tough their life is, I have to bite my tongue.

Each time I visit their home, tears appear, mine.

I look forward to the day autism is eradicated.

Cain, I am proud of you. It is people like you who make a whole lot of difference in the world today. Keep it up.

FM

Older Fathers Linked to Kids’ Autism and Schizophrenia Risk

Don't blame older mothers for their offsprings' developmental problems. A new study finds "there is probably much more reason to be concerned with the age of the father"
 
JGI / Getty Images
JGI / Getty Images

Older men are more likely than younger ones to have children with autism or schizophrenia, and a new genetic study points to why: compared with younger dads, older fathers pass on significantly more random genetic mutations to their offspring that increase the risk for these conditions.

And when compared to the genetic contributions of the mother, older fathers are responsible for nearly all of a child’s random genetic mutations: a father’s age at conception may account for 97% of the new, or de novo, mutations found in his offspring, according to the new study led by Augustine Kong at deCODE Genetics in Iceland.

The findings may partly explain the rise in autism diagnoses in recent decades — the rate has reached 1 in 88 children in the U.S. — and they shore up previous studies finding that children born to older dads are more likely to have developmental and psychiatric disorders. The study also counters the common assumption that it is a mother’s advanced age that contributes to these problems. While older mothers are more likely to have children with chromosomal abnormalities, such as Down syndrome, the new study finds that it is the father’s age that accounts for virtually all of the genetic risk of autism and schizophrenia attributable to de novo mutations.

“Our data indicate there is probably much more reason to be concerned with the age of the father,” says Dr. Kari Stefansson, CEO of deCODE and senior author of the paper, published in Nature.

(MORE: Autism Studies Confirm Genetic Risk for Older Dads)

De novo mutations are changes in DNA that arise spontaneously in egg or sperm cells around conception. Most people are born with many such mutations, and most of these changes are harmless. However, some of these mutations have been associated with increased autism risk in previous studies, with that risk rising along with the age of the father.

That makes sense since sperm, unlike women’s eggs, are made constantly throughout a man’s life. With each cell division, the entire genome is copied — and with three billion base pairs packed into 23 pairs of chromosomes, errors can occur in replication. The older men are, the more times his reproductive cells have continuously divided, generating new genetic material — sometimes under environmental exposures such as radiation or other chemical influences that can affect the accuracy with which DNA is replicated. In contrast, a woman’s egg cells don’t divide until they mature in the ovaries.

The study found that a 20-year-old dad passes on an average of 25 new genetic mutations to his child, while a 40-year-old passes 65. For each additional year in the father’s age, children gained two new mutations in their DNA, resulting in a doubling of the de novo mutation rate for every 16.5 years of paternal age. A mother transmits about 15 new mutations, regardless of age.

“It’s not surprising, and makes sense that it is this way,” says Stefansson.

(MORE: Mom’s Obesity, Diabetes Linked with Autism and Developmental Delays)

The study involved the sequencing of the full genomes of 78 trios of mother, father and child, in which the children were affected by either autism or schizophrenia but their parents had no mental disorder. The deCODE scientists were thus able to identify new mutations in children’s DNA that didn’t exist in the genetic material of the parents. The researchers also decoded the genomes of 1,859 unrelated Icelanders for comparison, in order to determine which mutations were meaningful and which were background noise.

The analysis showed that while paternal age had a statistically significant effect on mutation rates in children, maternal age did not. The deCODE scientists looked specifically at families affected by autism and schizophrenia because these conditions are caused by a range of mutations, and the researchers were more likely to detect an effect of father’s age with these conditions than with others; brain disorders are likely to be most affected by de novo mutations because more of our active genes play a role in the development of the brain than elsewhere in the body

But while new genetic mutations associated with a father’s age may account for 15% or more of cases of autism, that’s not the full story; at least half of the risk is believed to be due to inherited genes, along with other possible environmental exposures.

(MORE: What Genius and Autism Have in Common)

The findings also give us insight into how our gene pool is changing, and what, in modern times, is driving the genetic diversity that is critical to the survival of our species. Every difference in our DNA that distinguishes each of us as individuals, or that separates Homo sapiens from other species, arguably got its start as a mutation. Some of these alterations in DNA occur by chance, during cell division, others are triggered by exposure to environmental factors, while still others are selected for when they happen to confer some survival advantage, such as an ability to ward off disease. “It’s extraordinarily important to determine the mutation rate and determine the factors that influence the mutation rate,” says Stefansson. “Mutations are the things that underpin the future diversity of our species.”

The age at which fathers decide to have children may be the driving force behind modern mutation rates, Stefansson and his colleagues found. Indeed, in Iceland, the researchers estimated that children born in 2011 would have 17% more de novo mutations than those born in 1980 (70 mutations versus 60). Over that time period, the average age of fathers rose from 28 to 33.

“It’s basically a compelling connection between the rise in mutation rate and the rise in prevalence of these diseases, [such as autism and schizophrenia],” Stefansson says.

(MORE: Can Autism Really Be Diagnosed in Minutes?)

If the findings hold up and the paternal-age effect on the de novo mutation rate is found to affect children’s health broadly, “then collecting the sperm of young adult men and cold-storing it for later use could be a wise individual decision,” wrote Alexey Kondrashov of the University of Michigan in an editorial accompanying the new study.

But other experts say that may not be necessary. Not all such mutations are deleterious, and even the ones that are must occur in the right combinations to generate disease. “The observed effect is a significant one but not one necessarily to cause great worry among prospective older fathers,” Darren Griffin, a professor of genetics at University of Kent, wrote in a comment on the results. “There are three billion of letters in the DNA code of humans and the numbers of mutations detected in this study are in the dozens…and not realistically likely to deter more mature fathers from having children.” It might, however, give them pause before putting off fatherhood for too long.



Read more: http://healthland.time.com/201...n-lede#ixzz24QEsZVas
alena06

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