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Many men were surprised this week when a government advisory panel recommended that doctors stop using the PSA test to screen healthy men for prostate cancer.

Yet health experts say the recommendations by the U.S. Preventive Services Task Force are a part of a broader trend that’s been building for years. People are taking a closer look not just at cancer screenings, but at all medical tests and procedures, says Steven Woloshin, co-director of the Center for Medicine and the Media at the Dartmouth Institute for Health Policy and Clinical Practice. Concern about “overtesting” and “overtreating” patients is growing because of a rising recognition that these interventions often have risks and serious side effects.

“There is something going on, not just in cancer,” Woloshin says. “There is some sort of shift, and it’s encouraging. It feels like this is the beginning of a sea change in attitudes towards testing, treating and overdiagnosis.”

Doctors are taking a “less is more” approach on several fronts.

Last month, for example, nine physicians’ groups launched the “Choosing Wisely” campaign to discourage 45 frequently overused tests and procedures. The groups, which included the American College of Cardiology, noted many common interventions are unnecessary, including stress tests during routine annual exams.

Many of these overused tests involve trying to “help the well stay well by looking for things to be wrong,” says H. Gilbert Welch, a physician and author of Overdiagnosed: Making People Sick in the Pursuit of Health.

The American College of Radiology also is leading campaigns called Image Wisely, to reduce unnecessary radiation exposure in adults, and Image Gently, to reduce exposure in children. The campaigns address growing concerns over the risk of cancers related to medical radiation, which has been estimated to cause up to 29,000 cancers a year. Researchers estimate that one-third of CT scans may be unnecessary, according to a 2009 report in the Archives in Internal Medicine.

And in the past four years, medical groups have voted to restrict several types of cancer screenings. That’s partly because science has evolved to help doctors better understand how cancers progress and how best to use screening technology, and also because doctors better understand the risks and limitations of treatment, says Lisa Schwartz, also co-director at the Dartmouth Center.

•In 2008, for example, before the task force voted against the PSA entirely, it recommended offering it only to men under age 75, reasoning that older men would not likely be helped by a test that largely detects slow-growing cancers.

•In 2009, the task force recommended against routine mammograms for women under 50, and suggested women over 50 get screened every other year, instead of annually. That recommendation drew fierce protests from women, radiologists and many politicians.

•In March, in a less controversial move, the American Cancer Society revised its cervical cancer recommendations, suggesting that women get screened every three years, instead of every year, between the ages of 21 and 29. Older women can wait five years between tests, and stop screening at age 65, a change that reflects the slow-growing nature of these tumors.

•Last week , medical groups endorsed using CT scans to screen for lung cancer, but only in a very specific group: smokers and ex-smokers ages 55 to 74 who smoked the equivalent of a pack a day for 30 years, and who still smoke or quit within the past 15 years.

Younger people, or those who smoked less, are not advised to get screened for lung cancer, because the odds of being harmed by the test — which can lead to invasive lung biopsies — is so high, and the chance of being helped is much lower, says Peter Bach, director of Memorial Sloan-Kettering’s Center for Health Policy and Outcomes, who wrote an analysis of available evidence published May 20 in the Journal of the American Medical Association.

Bach says it was important to avoid repeating past mistakes. With other screening tests, medical organizations have recommended them broadly for everyone in a particular age category — often before studies showed they did what they were intended to do.

The PSA was approved in 1986 to monitor patients with diagnosed prostate cancer, and in 1994 to screen healthy men — before researchers had determined whether the tests improved survival. For years, many medical groups recommended the PSA for all men over 50.

“The PSA test was unleashed on the male population without any evidence that it provides any benefit and without any quantification of the potential harm,” Bach says. “We didn’t realize we would cause thousands of men to become impotent.”

Yet convincing people that they could be better off with fewer screenings could be a tough sell, says Virginia Moyer, chair of the U.S. Preventive Services Task Force and a pediatrician at the Baylor College of Medicine. Public health groups spent decades persuading reluctant men to give blood samples for PSA tests and frightened women to get their breasts compressed by mammography machines. Today, many people see screening as essential to health, she says.

And the science of screening — and the reasons why it can harm — aren’t easily boiled down into a soundbite. “We’ve been a victim of our own success,” Moyer says.

But Welch, the physician and author, agrees the tide is turning.

There’s a growing recognition that, “when you are dealing with well people, the balance is really fine: It’s hard to make a well person better, but it isn’t hard to make them worse,” says Welch. “We need to have really high thresholds before we start doing things to well people.”

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Neuroscientist Kevin Pelphrey has earned a Ph.D., a long list of awards and million-dollar grants from the National Institutes of Health.

None of that impresses his 6-year-old son, Kenneth.

” ‘Dad,’ he says, ‘why haven’t you cured autism yet?’ “

Young Kenneth has good reason to be impatient — and unusually curious about his father’s work, says Pelphrey, one of the country’s leading autism researchers. Two of Pelphrey’s three children — Kenneth’s big sister, Frances, and little brother, Lowell — have been diagnosed with autism-spectrum disorders.

“I’d really like to cure autism and be out of a job,” says Pelphrey, an associate professor of child psychiatry at the Yale School of Medicine’s Child Study Center. “I wish I had more ideas faster.”

Pelphrey is one of a handful of leading autism scientists who also have children with the disorder. Autism-spectrum disorders, which cause impairments in communication and socializing, as well as repetitive behaviors, now strike one in 88 children, or more than 1 million in all, according to a new report from the Centers for Disease Control and Prevention.

High-functioning autistic adults are also contributing to the study of autism. In an essay in the journal Nature, University of Montreal psychiatry professor Laurent Mottron singled out the work of a self-taught researcher with autism, Michelle Dawson, with whom he has co-written 13 papers and several book chapters.

Families, of course, have a long history of rallying to the aid of their children, using whatever talents they possess. Most of the major non-profits funding autism research — including the Simons Foundation, Autism Speaks and the Autism Science Foundation — were founded by the parents or grandparents of people with autism.

“It’s definitely why I do what I do,” says Edwin Cook, a professor of psychiatry at the University of Illinois-Chicago College of Medicine, whose autistic brother died in 1989 at age 28. He’s now studying genes related to autism, as well as helping lead advanced clinical trials of a drug to treat social withdrawal in autism.

“I’ll die not knowing what I wanted to, but hopefully I will have contributed a little bit along the way,” he says.

Ricardo Dolmetsch, an associate professor of neurobiology at Stanford University, says his son’s autism diagnosis has changed his personal and professional lives.

A decade ago, Dolmetsch was working in biophysics. He changed fields when his son, now 9, was diagnosed. Transforming the focus of his research, he says, was part of the “phases of grief” parents often undergo when faced with autism. After overcoming their initial denial of their son’s condition, he and his wife felt compelled to “leave no stone unturned,” Dolmetsch says.

“It was very traumatic,” he says. “We had to change the direction of my lab. We had no funding. We had no track record. But it’s motivating for me and for my lab. There is nothing like working for a cause. It’s why we do what we do.”

Dolmetsch’s work has been singled out by Thomas Insel, director of the National Institutes of Mental Health, as a “game-changer” in autism. To help scientists study the autistic brain — a notoriously difficult task, given that doctors can’t routinely biopsy the brain, as they might a colon tumor — Dolmetsch found a way to “create” brain cells in a lab dish by transforming skin cells of autistic children into stem cells, then back into neurons, or brain cells.

A challenge at home, too

This work was made more difficult, Dolmetsch says, by the fact that caring for a child with a disability is a full-time job. Although his wife, neurobiologist Asha Nigh, supports his research through managing projects and writing grant proposals, she has put her own scientific career on hold so she can care for their son and his brother, age 7.

Dolmetsch says his wife has earned an honorary doctorate “in getting insurance coverage for stuff.”

“The finances of autism are brutal,” he says. “The amount of continuous care these kids need is a lot. … The only thing that works at all are behavioral treatments,” which, depending on the state and one’s health plan, may not be covered by insurance, he says. “They’re very intensive … and they’re horrifyingly expensive.”

In some ways, knowing too much about autism can be a burden, Dolmetsch says.

“On the one hand, I get insights from him and his buddies and going to the clinic,” Dolmetsch says. “The downside is that there is a certain amount of denial that is important when you are raising a child and you don’t know exactly what is going to happen to them. It’s harder to have that denial if you are a scientist. You’ve seen it in other people, and you know what can happen and you know what the statistics are.”

Still, Dolmetsch feels lucky his work may help scientists better understand what’s happening between brain cells in children with autism and even lead to new drug therapies. He also works hard to mentor young researchers and interest other scientists in autism.

Dolmetsch says he also tries to answer questions from other parents who write to him for advice. Because there are so few effective treatments for autism, many parents turn to alternative therapies. In many cases, however, those therapies are ineffective, a waste of money or, even worse, dangerous, Dolmetsch says.

Recently, he has gotten a lot of e-mails from parents looking to go abroad for mysterious “stem cell therapies,” he says, including treatments in which practitioners offer treatments made with stem cells derived from fat, at a cost of up to $30,000.

“There are a lot of hucksters,” Dolmetsch says. “They’re springing up everywhere. … In the best case, it’s fraud, because they will put the cells in your body and they will be attacked by the immune system and die. In the worst case, they will cause something terrible, like cancer. … This has to be fraud, because we are not about to put stem cells in anybody’s brain. People are super-desperate. I’m just as desperate as they are.”

Siblings change things

Pelphrey was studying a subject relevant to autism — the “social brain” — when his daughter was diagnosed at age 4. Like Dolmetsch, he shifted his research to focus exclusively on autism. Insel notes that Pelphrey has helped to change the way people think about autism by finding that the siblings of autistic children appear to share some of their brain patterns but find ways to compensate.

“You can see why they’re so passionate,” Insel says.

Pelphrey didn’t think much of enrolling his youngest son in one of Yale’s research projects, assuming that the child would serve as one in a control group of “healthy” children to their autistic siblings.

Instead, his son, Lowell, also was diagnosed with a form of autism, called pervasive development disorder-not otherwise specified, or PDD-NOS, at age 1½. In spite of Pelphrey’s expertise in autism and experience as the father of an autistic daughter, he hadn’t noticed his son’s symptoms.

“We honestly thought he would get a clean bill of health,” Pelphrey says. “Then we found out he was developing toward autism.”

Thanks to that early diagnosis, Lowell began 32 hours a week of early behavioral therapy. He has made impressive progress. Today, at age 3, Lowell no longer has any autism-spectrum diagnosis, Pelphrey says.

“He’s not on the spectrum anymore,” Pelphrey says. “We kind of altered his developmental course. He still has subtle language and social deficits, and he’s awkward and shy. But it’s a matter of personality at this point.

“Frankly, he’s not all that different from most of my professor colleagues. I think he will have a very different life.”

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Doctors should no longer offer the PSA prostate cancer screening test to healthy men because they’re more likely to be harmed by the blood draw — and the chain of medical interventions that often follows — than be helped, according to government advisory panel’s final report.

Even after studying more than 250,000 men for more than a decade, researchers have never found the PSA to save lives, according to the U.S. Preventive Services Task Force, a panel of doctors that advises the government on cancer screenings and other ways to avoid disease.

Yet the PSA can cause harm.

That’s because the PSA, which measures a protein called prostate-specific antigen, often leads to unnecessary needle biopsies for men who don’t actually have cancer. Even worse, those biopsies lead many men to be treated for slow-growing cancers that never needed to be found and that are basically harmless, says task force chairwoman Virginia Moyer, a professor of pediatrics at Baylor College of Medicine in Houston.

Because doctors today often can’t tell a harmless tumor from an aggressive one, they end up treating most men with prostate cancer the same, says Otis Brawley, chief medical officer of the American Cancer Society, which takes a neutral stand on the PSA.

Treating harmless prostate tumors can’t possibly help men, however. It only increases the odds of making them impotent or incontinent, Moyer says. Treatment can even be deadly: One in 200 men who have prostate surgery die shortly after the procedure, she says.

The recommendation, first released as a draft in October, applies to healthy men of any age, although not for those who already have been diagnosed with prostate cancer.

The panel didn’t consider cost in its deliberations, Moyer says. Federal legislation requires that Medicare must continue to pay for the PSA, Brawley says. Private insurers usually follow Medicare’s example.

In the future, Moyer hopes doctors will simply stop mentioning the PSA when men come for office visits. If men ask for the test, or if doctors still want to offer the PSA, Moyer says she hopes physicians will discuss both the risks and benefits of screening. Although the task force aims to help doctors by issuing recommendations, physicians aren’t obligated to follow its recommendations, Moyer says.

Yet Moyer agrees that men desperately need a better test. More than 28,000 men die of prostate cancer a year.

Unfortunately, there are no other better tests with which to replace the PSA, such as rectal exams, ultrasounds or variations on the PSA, says Ian Thompson, chairman of urology at the University of Texas Health Science Center at San Antonio and a spokesman for the American Urological Association, which recommends the PSA for men over 40. Thompson supports some of the task force’s recommendations, such as its call to do away with mass prostate cancer screenings in shopping malls and parking lots.

But Thompson says the task force went too far in rejecting the PSA completely. He notes that death rates from prostate cancer nationwide have dropped 30% to 50% since PSA testing became widespread in the early 1990s. In its recommendations, published in Monday’s Annals of Internal Medicine, the task force said it’s unlikely that screening alone could have reduced death rates so quickly. Some experts note that treatments also have improved.

Thompson also says he doesn’t want to go back to the “bad old days” before screening, when doctors found prostate cancer only after it had become incurable. And because many men are used to getting PSAs, Thompson says, some might not realize their doctors have stopped performing the tests.

“A patient might presume they’ve had their PSA tested, then come back five or 10 years later with back pain,” only to learn they have prostate cancer that’s spread to their spine, Thompson says.

Terry Dyroff, 66, says he first realized the risks of prostate screening five years ago. He developed a life-threatening bloodstream infection called sepsis after his PSA results led to a needle biopsy, and he was hospitalized for three days. Though such infections are rare, Dyroff says one such experience was enough; he hasn’t had a PSA since. “At my age, if I developed prostate cancer, I’d rather not know,” says Dyroff, of Silver Spring, Md. “And if I did know, I probably wouldn’t do anything about it.”

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Coffee lovers are a loyal crowd. Most pour out their morning cup of java for the flavor, the aroma, and the accompanying jolt of energy, rather than the health perks.

So they may not mind if doctors debate new research suggesting that coffee lovers live longer.

According to an article in today’s New England Journal of Medicine, those who drank coffee at the beginning of a 13-year study had a slightly lower risk of death than others, whether they chose decaf or full-strength.

Coffee drinkers also were a little less likely to die from specific causes: heart disease, respiratory problems, strokes, injuries and accidents, diabetes and infections. Coffee offered no protection against cancer.

Drinking two to three cups of coffee a day lowered the overall risk of death 10%, says the study, funded by the National Cancer Institute and AARP.

“It’s interesting that coffee is more healthful than harmful,” says Frank Hu, a professor at the Harvard School of Public Health, who has studied the health effects of coffee, but wasn’t involved in the new study.

Not so fast, says cardiologist Steve Nissen, of the Cleveland Clinic, who also wasn’t involved in the new research. Asking people about their coffee consumption only once in 13 years can be misleading, since drinking habits change. Nissen notes the study didn’t include vital medical information that affects longevity, such as cholesterol or blood pressure levels.

“This study is not scientifically sound,” Nissen says. “The public should ignore these findings.”

Neal Freedman, the study’s lead author, acknowledges that the design of his study prevents it from definitively proving that coffee affects longevity.

“We wouldn’t recommend that anyone go out and drink coffee based on these results,” Freedman says. But he says his study could provide some “reassurance” that coffee didn’t seem to cut patients’ lives short.

Scientists still have unanswered questions about coffee, which contains more than 1,000 compounds that can affect the risk of death, Freedman says.

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In a move that acknowledges the higher risks that kids face from medical imaging tests, the Food and Drug Administration on Wednesday will announce a proposal to protect children from unnecessary radiation exposure.

The FDA will suggest that makers of devices such as X-ray machines, CT (or computed tomography) scanners and angiography equipment put kids first when designing them.

Today, machines often have settings only for adults or adolescents no younger than 12, says the FDA’s Thalia Mills, a physicist. Under the proposal, manufacturers would have to include at least four children’s settings: newborn, 1-year-old, 5-year-old and 12-year-old.

Manufacturers also would have to prove that machines are safe for children, or label them as not for use in children, the proposal says.

Adjusting a CT scanner for a child’s size is critical, Mills says. Giving a 40-pound child the same dose as a 180-pound man, for example, would mean the child got nearly twice as much radiation as necessary.

Several doctors praised the FDA proposal, which is still open for comments.

Radiologist Rebecca Smith-Bindman, who has been studying progress in limiting radiation exposure, called the proposal a “minimal first step.” By making imaging machines with settings for child-size patients, Smith-Bindman says, “the technologist won’t have to reprogram the machine for every single patient,” a problem that introduces the potential for errors.

Smith-Bindman said she was glad to see the proposal works to ensure that hospital staffers know how to use features on the machines that allow them to customize each dose.

“The doses that children are getting are much, much higher than anyone realizes,” Smith-Bindman says. “Doses are not being appropriately reduced.”

Although medical imaging is generally safe, and can even be life-saving, doctors have become increasingly concerned in recent years about the potential risk of cancer from the procedures, especially in children.

An influential set of studies in 2009, published in Archives of Internal Medicine, found that CT scans deliver far more radiation than previously believed, and may contribute to 29,000 new cancers each year, along with 14,500 deaths. These scans have grown in popularity as their clarity has improved and doctors have found new uses for them. One in 10 Americans now undergo a CT scan each year.

Children may be especially vulnerable to radiation, because their cells are still growing and dividing, says Marta Hernanz-Schulman, chairwoman of the American College of Radiology’s pediatric imaging commission. Their small size makes it easier for kids to get an overdose. And kids have a long time to live with consequences of radiation, even if a cancer takes decades to develop, Hernanz-Schulman says.

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Probiotics — or live microorganisms intended to boost health, such as the bacteria in some yogurts — have become popular items in vitamin stores and even many supermarkets. One of probiotics’ most popular uses is in preventing and treating digestive problems.

A new analysis of 82 earlier studies finds that probiotics have potential in alleviating the diarrhea that afflicts about one-third of people treated with antibiotic medications. Probiotics reduced the risk of antibiotic-associated diarrhea by 42%, according to the analysis in today’s Journal of the American Medical Association. Diarrhea is more common with certain antibiotics, particularly at high doses needed to treat serious infections.

Probiotics are sold as supplements at vitamin stores and supermarkets. Other foods, such as yogurts with active bacterial cultures, also market themselves as probiotics.

But the new study provides little specific guidance to patients or their doctors, says study co-author Sydne Newberry, a nutritionist and researcher for the Southern California Evidence-Based Practice Center at the Rand Corp. in Santa Monica.

The studies she reviewed didn’t provide enough details — such as the specific strain of bacteria — for consumers to know exactly what to take and how often, Newberry says. Scientists need to conduct much more targeted clinical trials, testing particular doses of individual probiotics against one another, to give patients and their doctors better guidance, she says.

But the study underscores the importance of maintaining a proper balance of microbes in the digestive tract, says Roshini Rajapaksa, a gastroenterologist at the NYU Langone Medical Center who wasn’t involved in the study. When people take antibiotics, the drugs kill not only the bad bacteria that cause illness but also the good microbes that help regulate the intestines, she says.

In the meantime, people should be careful about what they buy, especially when when considering probiotics for children, says David Bernstein, chief of hepatology at North Shore University Hospital in Manhasset, N.Y.

Though foods such as yogurts are safe, probiotics could pose risks for children with weak immune systems, those who are chronically debilitated or those who are seriously ill, the American Academy of Pediatrics says. In rare cases, probiotics are associated with dangerous bloodstream infections.

Dietary supplements such as probiotics are not approved by the government for safety and effectiveness before they are marketed, the Food and Drug Administration says.

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The number of babies born addicted to the class of drugs that includes prescription painkillers has nearly tripled in the past decade, according to the first national study of its kind.

About 3.4 of every 1,000 infants born in a hospital in 2009 suffered from a type of drug withdrawal commonly seen in the babies of pregnant women who abuse narcotic pain medications, the study says. It’s published today in The Journal of the American Medical Association.

That’s about 13,539 infants a year, or one drug-addicted baby born every hour, says the study’s lead author, Stephen Patrick, a fellow in neonatal-perinatal medicine at the University of Michigan.

Treating drug-addicted newborns, most of whom are covered by the publicly financed Medicaid program, cost $720 million in 2009, the study says.

The country has an obligation to help these newborns, who “have made no choices around drug abuse and addiction” and are “the most vulnerable and the most blameless” members of society, says Marie Hayes, a psychology professor at the University of Maine who was not involved in the study.

Unlike in the 1980s and 1990s, when hospitals saw a surge in babies born addicted to crack cocaine, many newborns today arrive hooked on powerful prescription painkillers, such as Vicodin and Oxycontin, Patrick says. The type of withdrawal Patrick studied, called neonatal abstinence syndrome, produces different symptoms from those caused by cocaine. The syndrome also can be caused by illegal opiates, such as heroin, Patrick says, but this surge in addicted babies probably is explained by the national “epidemic” of prescription-drug abuse.

The number of pregnant women who used or abused any kind of opiate increased fivefold from 2000 to 2009, his study found. These mothers now account for 5.6 out of 1,000 hospital births a year, the study found. The findings also were presented at the annual meeting of the Pediatric Academic Societies in Boston.

“The prevalence of drug use among pregnant women hasn’t changed since the early 2000s, but the types of drugs that women are using” are changing, says Andreea Creanga, a researcher with the Centers for Disease Control and Prevention (CDC). Creanga noted that about 4.5% of pregnant women use illegal drugs.

The CDC has flagged prescription-painkiller abuse as a major health threat, noting that these drugs now cause more overdose deaths than heroin and cocaine combined. And the problem is getting worse. The death rate from overdoses in 2007 — 12 deaths per 100,000 people — was roughly three times higher than in 1991, a CDC report in November showed. Most of that increase came from prescription drugs.

Many of these mothers tell their doctors they didn’t realize prescription painkillers could harm their babies, perhaps because the drugs are technically legal, says Mark Hudak, a spokesman for the American Academy of Pediatrics who wrote the group’s 2012 clinical report on newborn withdrawal. Other mothers are addicted when they become pregnant and simply unable to quit, he says.

Babies born in withdrawal are often born small and are at a higher risk of death than other infants, Patrick says. Doctors try to relieve the pain of surviving babies by treating them with methadone, a narcotic painkiller commonly used to treat heroin addicts. Doctors reduce the dose slowly over weeks to avoid causing sudden withdrawal symptoms, Patrick says.

Doctors and nurses sometimes can tell which babies are going through withdrawal from the hallway, without even seeing them, simply by hearing their cries, Patrick says. These babies are irritable and hard to console, with stiff, rigid muscles that won’t relax. They have tremors, seizures and breathing problems. They have trouble feeding and resist taking a bottle. They throw up frequently and produce watery diarrhea. “It’s like a colicky baby times 10,” Patrick says.

Sometimes, these babies are exposed to multiple drugs in the womb, from tobacco and alcohol to antidepressants and other psychiatric drugs, says Howard Heiman, associate chief of the neonatal intensive care unit at Cohen Children’s Medical Center of New York. Researchers need to find better ways to treat drug-addicted mothers and to identify and treat addicted babies as early as possible.

Some states have been hit harder than others, Hayes says, particularly those with high rates of rural poverty, such as Maine and Kentucky. In Florida, the number of babies with withdrawal syndrome soared from 354 in 2006 to 1,374 in 2010, according to the Florida Agency for Health Care Administration. In response, Florida’s attorney general has convened a task force to address the problem of drug-addicted newborns.

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Conventional wisdom says that hardship can make us old before our time.

In fact, a new study suggests that violence leaves long-term scars on children’s bodies — not just in bruises on the skin, but also altering their DNA, causing changes that are equivalent to seven to 10 years of premature aging.

Scientists measured this cellular aging by studying the ends of children’s chromosomes, called telomeres, according to Idan Shalev, lead author of a study in today’s Molecular Psychiatry.

Telomeres are special DNA sequences that act like the plastic tips on shoelaces, which prevent the DNA in chromosomes from unraveling. They get shorter each time a cell divides, until a cell can’t divide anymore and it dies.

Several factors have been found to shorten telomeres, including smoking, radiation and psychological stresses such as early life maltreatment and taking care of a chronically ill person.

In this study, researchers examined whether exposure to violence could make children’s telomeres shorten faster than normal. They interviewed the mothers of 236 children at ages 5, 7 and 10, asking whether the youngsters had been exposed to domestic violence between the mother and her partner; physical maltreatment by an adult; or bullying. Researchers measured the children’s telomeres — in cells obtained by swabbing the insides of their cheeks — at ages 5 and 10.

Telomeres shortened faster in kids exposed to two or more types of violence, says Shalev, a post-doctoral researcher at the Duke Institute for Genome Sciences & Policy in Durham, N.C. Unless that pattern changes, the study suggests, these kids could be expected to develop diseases of aging, such as heart attacks or memory loss, seven to 10 years earlier than their peers.

Shalev says there is hope for these kids. His study found that, in rare cases, telomeres can lengthen. Better nutrition, exercise and stress reduction are three things that may be able to lengthen telomeres, he says.

The study confirms a small-but-growing number of studies suggesting that early childhood adversity imprints itself in our chromosomes, says Charles Nelson, a professor of pediatrics and neuroscience at Harvard Medical School.

In a 2011 study, Nelson and colleagues found shorter telomeres in Romanian children who had spent more time in institutions, compared with children sent to foster care.

“We know that toxic stress is bad for you,” says Nathan Fox, a professor of human development at the University of Maryland and co-author of the 2011 paper. “This paper provides a mechanism by which this type of stress gets ‘under the skin’ and into the genes.”

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Nicole May sits in a dimly lit hospital room, cradling her 2-year-old son on her lap, rhythmically rocking him to sleep. She smiles into Nicholas’ wide blue eyes, brushing back his soft brown curls.

One by one, Nicky’s fingers loosen their grip on his bottle of milk, the muscles of his round face relax and his eyelids droop.

Carefully, May carries her sleeping boy to a loudly humming MRI scanner, laying him gently on the machine’s long, white platform. She makes a thumbs-up signal to the researchers and technicians watching from the other side of a glass window.

In an adjacent room, researchers from the Children’s Hospital of Philadelphia watch as black-and-white images of Nicky’s brain flash onto a monitor.

Across the country, researchers are scanning the brains of hundreds of autistic children like Nicky, looking for insights into a condition that has proved frustratingly hard to understand. Autism, which now afflicts more than 1 million children in the USA, is associated with a spectrum of disabilities, including repetitive behaviors and problems socializing and communicating.

The quest to unravel the mystery — and get children and families the help they need — has become more urgent as autism has become more widely diagnosed. The condition now affects one in 88 children, according to a report last month from the Centers for Disease Control and Prevention.

Yet researchers today also say they’re beginning to make progress, perhaps for the first time, in understanding the autistic brain. Thanks to children such as Nicky and babies far younger, scientists are getting a glimpse of what might go wrong in early brain development, says Sarah Paterson, a developmental psychologist at Children’s Hospital who works closely with the May family.

And while some of the field’s most exciting discoveries have come only in the past year or two, researchers such as Paterson say the findings could soon make a real difference for toddlers like Nicky. A decade from now, she expects doctors to diagnose the condition earlier and treat it more effectively, at least for children whose family history singles them out as high-risk.

Autism brain science “has moved stunningly fast,” says Kevin Pelphrey, an associate professor of child psychiatry at the Yale School of Medicine’s Child Study Center. “We’ve fundamentally moved around a corner where we will move much faster now.”

Pelphrey knows parents are impatient; they desperately need help today. Yet, as the father of an autistic child, Pelphrey says, the latest research also gives him hope for therapies that can reshape children’s brains, not just as babies but into adolescence. “Treatment can have effects even very late,” he says. “It’s not a lost cause at all.”

Parents have helped make some of the advances possible by pushing for funding that is now bearing fruit, says Robert Schultz, director of the Center for Autism Research at Children’s Hospital. Technological advances in imaging, stem cell science, gene sequencing and computing have opened doors as well. In only a few years, it will be cheaper to sequence an autistic child’s genetic blueprint than to perform an intensive, one-on-one behavioral examination now performed when diagnosing the condition, Schultz says.

Not one puzzle but many

Yet mapping the autistic brain — like everything about autism — has been difficult, says Thomas Insel, director of the National Institutes of Mental Health. Researchers often describe autism as a puzzle with countless pieces, none of which yet fit together to form a recognizable picture. Yet to hear Insel talk, the condition might be even more complex. Insel says autism is now commonly regarded not as a single condition but as a group of related disorders with similar symptoms but different causes. Trying to make progress against autism, then, is not so much like putting together one puzzle but a dozen, whose pieces are mixed together in one box.

“It would be great if there were a grand unified theory of autism, but we’re far from that right now,” says David Amaral, research director at the University of California-Davis MIND Institute.

Parents often ask to see their children’s brain images, hoping to learn what’s going on in the minds of youngsters who have trouble speaking for themselves, says neurologist Sarah Spence of Children’s Hospital Boston.

But, Insel notes, “even when you look at a child who has no language, who is self-injuring, who’s had multiple seizures, you would be amazed at how normal their brains look. It’s the most inconvenient truth about this condition.”

So doctors are zooming in, looking not simply at the whole brain but at the “wiring” between brain regions and the spaces between cells, where chemical messages are sent, Spence says.

Research suggests the brains of autistic children may indeed be “wired” differently “right from the beginning,” Paterson says. A popular theory among researchers holds that autistic people have an abundance of “local connections,” in one specific part of the brain, but not enough “long-distance connections” to coordinate complex tasks among various parts of the brain, such as interpreting emotions, says Geraldine Dawson, chief science officer for the advocacy group Autism Speaks.

Studying the brain is far more challenging than other organs, of course. There are relatively few brains from autistic children available for autopsies. And because doctors rarely biopsy the brain, they can’t easily study brain tissue in labs, as they can with colon cancers or leukemia cells.

Researchers such as Ricardo Dolmetsch may have found a way around that problem. He and others have “created” brain cells in the lab by transforming ordinary skin from autistic children into stem cells, then coaxing them to morph again into neurons. The approach allows doctors to examine the microscopic spaces between brain cells, called synapses, where chemical messages are transmitted.

Game-changing technology

“This is the very beginning of a revolution,” says Dolmetsch, an associate professor of neurobiology at Stanford University.

Dolmetsch says his team is still a long way from identifying a safe drug to correct some problems he has found in autistic brain cells. Still, Insel singles out Dolmetsch’s work as some of the most exciting in the field. “You’re creating a disease in a dish,” Insel says. “This approach could be a game-changer.”

Sophisticated new imaging technology, like the tests given to Nicky, also is picking up subtle differences in the brains of autistic children.

The changes lie not in the brain cells themselves but in the pathways that transmit messages between brain regions, Paterson says. These pathways aren’t visible to the naked eye. But scientists can get a sense of these bundles of nerve fibers with technology that traces the path of water through the brain.

Structural changes in these fiber tracts are evident in the brains of children later diagnosed with autism, even as young as 6 months old. That’s six months to a year before autistic children typically begin to show any outward signs of their condition, says Joseph Piven, a researcher at the University of North Carolina-Chapel Hill. Researchers focused on “high-risk” infants like Nicky — those with at least one older autistic sibling, who have a much higher risk of developing the condition.

“A lot of the kids in this study, they looked pretty good socially at 6 months,” Piven says, which suggests “there is a period of time of normal development. … But by 12 months, it was almost as if someone had pulled the curtain down.”

Additional imaging research may also shed light into why autistic children are less likely than others to make eye contact. British scientists used a specialized type of EEG, or electroencephalogram, to measure babies’ brain responses to videos of faces, says study co-author Mark Johnson, director of the Centre for Brain and Cognitive Development at the University of London.

In most babies, researchers could see their brains “light up” in response to eye contact, as if a person’s direct gaze piqued their interest far more than the image of someone looking away. The brains of babies later diagnosed with autism, however, didn’t react any differently to images of eyes moving toward the viewer than they did to those of people whose eyes were looking away, Johnson says. Significantly, those changes were also noticeable from around 6 months.

Paterson and others are eager to begin scanning babies even earlier, such as by age 3 months, to see when the first signs of autism emerge. These early tests aren’t yet ready to be used to screen babies, Paterson says. But if the scans could be refined and proven accurate, doctors might be able to use them on the younger siblings of autistic children.

That could allow doctors the chance to get high-risk babies into therapy very early, before symptoms even appear, and when they might even be prevented. “The hope,” Dawson says, “is that you could change the course of brain development.”

Indeed, the brain might be far more capable of repair than scientists once recognized, Pelphrey says. In some cases, the brains of people with an underlying genetic vulnerability to autism appear to “compensate” for whatever deficits they were born with by forming new brain pathways, Pelphrey says. He came to that striking conclusion by using functional MRIs to compare autistic kids with their healthy siblings, as well as a control group of unrelated healthy children.

Researchers weren’t surprised to see that the brains of autistic children responded differently to watching videos. The surprise came from the autistic children’s healthy brothers and sisters. Their MRIs showed a mix of brain patterns: some similar to those of other healthy kids, others closer to their autistic siblings, and a third group of unique patterns found in neither of the other groups, Pelphrey says.

“There may be people who have a genetic risk for autism … but their brains compensate by recruiting new brain structures to handle social information,” Pelphrey says. “They must have a set of genes that ‘code’ for resilience. If you understood how that happened, … could you create a treatment to teach children to use those other brain regions?”

Bringing Nicky back

Though Nicky has a long way to go, clinicians at Children’s Hospital say he has improved since beginning therapy a few months ago. Nicky, who turned 2 Monday, still doesn’t respond to his name.

Yet he has no trouble showing love for his mom. In the hospital waiting room, May picks Nicky up and hugs him, face to face. He grabs her long brown hair and pulls it toward him, as if closing a curtain around the two of them, creating a private space only they share.

“The goal is not to let him go into his world,” May says later. “When he starts to space out, to bring him back.”

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