Saturday, June 27, 2009

Scottish scientists raise hopes of new treatments for autism

This is pretty nutty. Only 5 out of 121 autistic kids had the gene abnormality and they think they have found THE autism gene. What a lot of bollocks!

Scottish scientists have discovered a gene linked with autism, raising the prospect of the development of new treatments for the condition. Drugs to control autism could be developed within five years as a result of the findings, according to the doctor who led the research team at the University of Aberdeen. The condition affects more than 500,000 people across Britain and there is no cure.

The study, published yesterday, began seven years ago with one child with severe autism. The boy attended the genetics clinic at Aberdeen Royal Infirmary, where he was found to have a rare re-arrangement of chromosomes in which one had broken and swapped with another. By using genetic mapping techniques, researchers discovered that this realignment had disrupted a gene known to be important to memory and learning. When they extended the study to examine 120 other families with autism, they found that four other children — two siblings in two separate families — had faults in the same gene, known as EIF4E.

It is estimated that 1 per cent of the British population suffers from autism, a lifelong developmental disability that affects the way that a person communicates and relates to those around them. The condition occurs in varying forms of severity, and some people require lifelong care.

The research was led by Zosia Miedzybrodzka, reader in medical genetics at the University of Aberdeen and honorary clinical geneticist at NHS Grampian. She said that the study was a significant step towards the discovery of a treatment. “When I started doing genetics I believed that conditions such as autism, that people are born with or develop when very young, would be hard-wired and that there was little you could do about it,” she said. “But what we are learning now is that they are modifiable, and that is very exciting. I think we could be trying out drugs in five years. It is not a cure, but something that would potentially improve the condition dramatically.”

Dr Miedzybrodzka said that the work suggested that a correction of EIF4E abnormalities could improve symptoms in people whose autism did not result from a fault in the gene. “If you fix the problem at the endpoint then you also fix problems further upstream,” she said.

She paid tribute to the parents of the boy who prompted the research, pointing out that the study was an extra complication for the family as they struggled to cope with his condition. “It has been a long process and the family has been key to allowing us to get the blood samples we needed from the boy. With his condition, which was very severe, that was no trivial thing,” she said. The parents of the child, who wished to remain anonymous, said: “We are delighted that the work that started with our son brings so much hope for the future.”

Carol Evans, national director at the National Autistic Society Scotland, said that the research could shed new light on the condition. She emphasised, though, that much could be done to help to manage the condition until a treatment is found. “Various studies over many years have sought to identify candidate genes but so far inconclusively,” she said. “Whilst it is important that this research continues, it is also crucial that those living with the condition have access to appropriate advice and information, as the right support at the right time can make an enormous difference to people’s lives.”

Autism is a lifelong developmental condition affecting the way that the brain processes information. The condition is on the rise in Britain, but many experts believe that the increase is because of improved diagnosis. While people can have varying degrees of autism, all sufferers share similar symptoms, including problems with verbal and non-verbal communication, difficulties with social interaction and repetitive behaviour, or narrow, obsessive interests. Boys are four times as likely to develop autism as girls. Research indicates that a combination of genetic and environmental factors may account for changes in brain development.


The "prevention" dream

When it comes to health care spending, an ounce of prevention is seldom worth a pound of cure. Take Mrs. Jones, a hypothetical 55-year-old obese woman at risk for diabetes. It costs $900 a year to hire a personal lifestyle coach to help her lose weight and prevent diabetes. Suppose that the coaching works for Mrs. Jones, and she is spared diabetes and all the resulting health bills. But research shows that for every person like Mrs. Jones, six other people just like her get nothing out of such a program. They either don't lose weight or get diabetes anyway or wouldn't have developed it in the first place. The yearly cost of the prevention program for those six people: $5,400. That's probably more than Mrs. Jones' health bills from diabetes would have amounted to. There goes your pound of cure.

The truth is, shockingly few prevention efforts actually save the health care system money overall, despite claims by the president and some in Congress. Discussing daily aspirin use with people at risk of heart disease does save money. So do vaccinations for children. When doctors talk to smokers and offer medication to help them quit, that, too, saves money. But those are the exceptions.

Prevention is a good deal, some experts say, if you can buy one year of perfect health for less than $50,000. The most-recommended prevention efforts - like flu shots for adults, Pap smears for women and colon cancer screening for people over 50 - meet that cutoff. But they certainly don't save money.

Some say cost is beside the point, since those things save lives at what's deemed a reasonable expense. Back to Mrs. Jones. Helping 100 people like her would cost $270,000 over three years, but also would prevent 15 new cases of diabetes, avoid the need for blood pressure or cholesterol-lowering pills in 11 people, avoid $65,500 in medical spending for all 100 people and prevent 162 missed days of work due to sickness.

Dr. Ronald Ackermann at Indiana University School of Medicine in Indianapolis said recent studies suggest that offering the diabetes prevention program to groups of 10 people - instead of one-on-one coaching - can lead to similar benefits and cost as little as $15 per month. The YMCA is offering just such a group program. Retired accountant Paul Mullen, 66, of Indianapolis, has lost 18 pounds since May and brought his blood sugar down because of lifestyle changes he learned. He pays $115 for the yearlong program, on top of his Y membership fee. He feels better, his knees don't hurt as much and he can't wait to see his doctor's reaction when he gets his next checkup. "I should have done it years ago," he said. "My daughter-in-law got after me. The wife did, too. So far, it's worked."

Michael Maciosek of HealthPartners Research Foundation in Minneapolis found that of 25 highly recommended prevention strategies, 15 cost less than $35,000 for every year of perfect health gained. Those are definitely bargains if you're using the arbitrary cutoff of $50,000 per healthy year to decide what's a good investment in health spending. And some economists say Americans would be willing to spend even more than that, say $100,000 per perfect health year.

No one really knows how much of the U.S. health care dollar goes toward prevention. The most commonly cited number _ 3 cents of every health care dollar _ is based on 20-year-old data. An updated number _ nearly 9 cents of every health care dollar _ represents about $194 billion, said George Miller, who led the research for the Altarum Institute, a nonprofit consulting group.

Legislation pushed by Senate Democrats mentions "prevention" repeatedly. The Senate panel heading up health reform also calls for more research on prevention, creates a new interagency council to coordinate a national health promotion strategy and permits insurers to give incentives for health promotion and disease prevention.

President Barack Obama as recently as April said investing in prevention "will save huge amounts of money in the long term." And it has become almost an article of faith among Republicans, Democrats and business leaders that prevention reduces health care costs. But the Congressional Budget Office last week issued a statement on health care overhaul that dismissed the notion that prevention saves money. Prevention "would have clearer positive effects on health than on the federal budget," the CBO said.

The Partnership to Fight Chronic Disease wants the budget office to be more generous with its review of prevention, to take a longer time frame and to calculate savings to the private sector in lower absenteeism and higher productivity. But researcher Peter Neumann of Tufts Medical Center said counting on disease prevention to save money "promises painless solutions to our health cost problems. I don't think they're going to be painless and they have to be done."

Supporters say each prevention effort should be held to the same standards as surgical techniques, drugs and medical devices, and not be expected to save dollars: Does it work and at a reasonable cost? Prevention efforts with high value, although not cost-saving, include flu and pneumococcal shots for adults, Pap smears to screen for cervical cancer, colon cancer screening for people 50 and older, and screenings for vision problems, high blood pressure, high cholesterol and problem drinking. Each of those things costs less than $35,000 per year of perfect health.

Those strategies are a good place to start when money is limited, experts say. "Some preventive services save money and some don't. Many of the services that don't save money improve people's lives at relatively low cost," said Robert Gould, president of the nonprofit Partnership for Prevention. "I think that's what the American public wants from health reform."


Peanut butter 'wards off heart disease' among diabetics

This is just data dredging: To be ignored unless followed up by specific tests. The effect was weak (and therefore probably evanescent) anyhow but I suppose that they had to say something to justify their work. The findings CERTAINLY cannot automatically be generalized to non-diabetics

Peanut butter sandwiches could be the secret to beating heart disease, says a study. Snacking on peanuts or peanut butter at least five days a week can nearly halve the risk of a heart attack. The nuts are thought to lower bad cholesterol, help reduce inflammation in the body and boost the health of blood vessels around the heart.

Between 1980 and 2002, researchers at Harvard Medical School analysed the diets of more than 6,000 women who had type 2 diabetes, which increases the risk of heart attack and stroke. All the volunteers completed food questionnaires every two to four years. When the researchers matched up the results with data on how many went on to suffer heart attacks or strokes, they found those regularly eating peanuts had the greatest protection.

In a report on their findings, published in the Journal of Nutrition, they said the risk was reduced by up to 44 per cent. 'Consumption of at least five servings a week of one ounce of nuts or one tablespoon of peanut butter was significantly associated with a lower risk of cardiovascular disease,' they said.

In the UK, poor diet and lifestyle has led to a surge in cases of type 2 diabetes, from 1.5million five years ago to 2.25million now. Ellen Mason of the British Heart Foundation said: 'It is beneficial to include nuts in our diets as they are low in the saturated fats that raise our cholesterol.

'However peanut products can be full of added sugar or salt so check the label first. Also don't forget that nuts are high in overall calories. 'Eating more of one food in isolation will not make a dramatic difference to your health if you are inactive and don't have a balanced diet.'


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