TIME Developmental Disorders

Researchers Zero in on the Best Way to Diagnose Autism

TIME.com stock health autism puzzle pieces
Illustration by Sydney Rae Hass for TIME

What’s the most reliable way to know if your child has autism? Is it a genetic test? Or are more traditional behavioral assessments, which measure talking and social skills, more accurate? The latest research provides some answers

Autism is a complex developmental disorder, and diagnosing it properly usually involves a combination of different tests. In the latest issue of JAMA, scientists provide the most up-to-date assessment yet of which tests work best for detecting genetic mutations associated with certain kinds of autism. Categorizing the various forms of autism will be important to guide parents to the proper care, the researchers say.

Traditionally, autism is diagnosed with behavioral tests that assess whether kids are meeting developmental milestones, such as talking, interacting with their parents and siblings, and learning to give and take in social situations. In recent years, researchers have been working on other ways to detect and potentially diagnose autism. Scientists have identified more than 100 genes connected with a higher risk of developing autism.

MORE: Study Finds Possible Association Between Autism and Air Pollution

Stephen Scherer, director of the center for applied genomics and a professor at the Hospital for Sick Children in Toronto, and his colleagues conducted a comparison test to see how the genetic tests matched up, both against each other and against the more conventional behavioral evaluations.

They studied 258 children who were diagnosed with autism spectrum disorder; all had a form of genetic testing done that looks specifically at abnormalities in the chromosomes; some had more extensive genetic testing, called whole-exome sequencing.

MORE: How Brain Scans Can Diagnose Autism With 97% Accuracy

The two genetic tests were roughly equally capable—around 8-9%—of detecting autism. Regardless of the fact they perform similarly, however, more labs and clinicians are favoring whole-exome sequencing, says Scherer. That’s concerning because the two genetic tests pick up markers for different kinds of autism, and excluding the other test in favor of the more high-tech whole-exome sequencing would miss about half of the possible genetic predictors of autism. Together the two gene-based tests can diagnose nearly 16% of cases.

“We need to use both technologies now,” he says. “If we only used one, we would miss some important information.”

The tests aren’t cheap. The chromosome-based test costs about $500, and exome sequencing slightly more. Ideally, this research suggests, both tests would be done for any child referred to a developmental pediatricians who suspects autism. But the reality is that for now, insurers may not cover both.

Scherer’s group looked at how non-genetic evaluations matched up with the genetic testing. Using factors such as brain scans to look for physical differences that might indicate autism, they divided the children into three groups based on whether they possessed physical anomalies or not. Among children with more physical abnormalities, the two types of genetic testing together diagnosed autism in 37.5% of cases.

MORE: Autism Rises: More Children than Ever Have Autism, but Is the Increase Real?

That suggests that the most accurate diagnosis of autism may come from combining all three types of tests. Not only that, says Scherer, but such testing can also categorize the type of autism that a child may have. “We need to start looking at each autism case individually, and come up with the best recommendations,” he says.

For now, based on the results of the study, he recommends that behavioral testing be the first step. Then, the chromosomal test should be done to see if it yields any additional information about a connection to autism. Even if it does not, that doesn’t mean that there aren’t genetic factors in play. If the chromosomal test is negative, Scherer argues that in some cases the whole exome sequencing might be useful.

Working with genetic counselors can help parents decide if and when this type of genetic testing is needed. “The message is that we need to use all technologies to get as much detailed information as we can to marry them all together,” he says.

TIME Drugs

FDA Approves New Cholesterol-Lowering Drug

Repatha

It’s the second in a new class of drugs that works in a different way from statins to bring cholesterol levels down

The U. S. Food and Drug Administration approved a new drug for treating high cholesterol levels on Thursday. Evolocumab, called Repatha, is made by Amgen and is the second of a new class of lipid-lowering agents that are hitting the market.

Known as PCSK9 inhibitors, these drugs work by suppressing genes that slow down production of cholesterol receptors on the liver. With these medications, more receptors that are free to emerge and act like sponges can soak up LDL cholesterol and lower their levels in the blood.

MORE: This New FDA-Approved Cholesterol Drug Is a Game Changer

Evolocumab was approved first by the European Medicines Agency in July. In the same month, the U.S. FDA approved another drug in the same class, alirocumab (Praluent), made by Sanofi and Regeneron. In studies, both drugs helped to lower cholesterol levels in the blood by 60% more than the amount achieved by statins. The drugs carry labels that say medications should be used first in people with a strong family history of high cholesterol conditions, or in people who have tried and not responded to statin medications.

PCSK9 inhibitors were discovered among a group of people who happened to have genetic mutations that gave them extremely low cholesterol levels. Researchers studied this rare population, and found they did not have any negative health effects from their mutation other than the beneficial effect on their lipids. So drug makers began investigating ways to replicate the condition with a medication.

MORE: Memory Loss Not Caused By Cholesterol Drugs After All

Having another drug that can lower cholesterol levels will be a boon to treating heart disease, which remains the leading killer of Americans each year. Keeping cholesterol levels down, in addition to eating a healthy diet and exercising to maintain weight are crucial to lowering the risk of heart events.

TIME Cancer

Genetic Test Impacts Chemo Choices In Surprising Ways

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Maciej Frolow—Getty Images

A study investigates for the first time how a gene-based test is affecting women’s decisions to get chemotherapy

Correction appended, Aug. 31, 2015

In the new era of personalized medicine, having more information on hand is considered the ideal situation for making more customized, and ideally, effective decisions about medical care.

And in a new study of breast cancer patients, researchers show that a relatively new genetic test for evaluating tumors is doing just that. It’s just that the test isn’t necessarily leading to the decisions that experts expected.

The Oncotype DX Breast Cancer Assay is a test launched in 2004 to help women decide how likely their breast cancer is to recur. The score, from zero to 100, is for women with breast tumors that have not spread to the lymph nodes. It places women on a scale of probability, based on an analysis of 21 genes in her tumor. Most doctors and patients use the score to decide, in part, whether the woman should receive chemotherapy following surgery.

MORE: A Major Shift in Breast Cancer Understanding

In previous studies, about 20% to 30% of doctors say they changed their recommendation about chemotherapy based on the Oncotype DX score. But none of the studies looked at how Oncotype DX affected the likelihood a woman would undergo chemotherapy rates in a real-world setting— outside of a trial. In clinics, says Michaela Dinan, assistant professor in medical oncology at the Duke Cancer Institute, many other factors contribute to treatment decisions, including fear, family history and physician advice. So she and her colleagues conducted a review of data on more than 44,044 breast cancer patients to see how the Oncotype test affected chemotherapy decisions.

MORE: Here’s the Amount of Exercise That Lowers Breast Cancer Risk

The results, published in JAMA Oncology, showed that overall, the test had no effect on their decision. Women who were tested were no more or no less likely to opt for chemotherapy than those not getting Oncotype DX. Younger age and a higher risk disease were more likely to predict chemotherapy use than the assay.

While many assumed that the test would lead to fewer treatments, Dinan’s data shows that how the testing affects chemotherapy decisions is less predictable. When Dinan delved further into the numbers, she found an interesting pattern. Those rated as having high-risk breast cancer according to the National Comprehensive Cancer Network guidelines were less likely to get chemo than women who were not tested. And among people with low-risk disease, those getting the genetic test were more likely to get chemotherapy than low-risk patients who did not.

Because the study did not take into consideration what the Oncotype DX scores were, it’s possible, for example, that women considered high risk who received intermediate or low Oncotype DX scores decided not to undergo chemotherapy since the testing showed their response might not be as positive as they might have expected. On the other hand, women who have low risk disease and receive an intermediate test score might decide to undergo chemotherapy since the intermediate risk might represent a slightly higher risk of recurrence than they were anticipating.

“It’s a more nuanced finding,” says Dinan. “The Oncotype DX test is impacting the receipt of chemotherapy, but the impact isn’t in one direction or another in terms of whether people are more or less likely to get chemotherapy.”

As more options for personalized treatments make their way into the clinic, Dinan says it’s worth remembering that they shouldn’t dictate decisions but inform them. “The nuanced finding of the difference between high risk and low risk patients says to me that whether or not a woman with early stage breast cancer undergoes chemotherapy is going to be affected by a number of different factors, not just this assay. It’s a personalized discussion about the individual patient’s case.”

Correction: The original version of this story misstated that the Oncotype DX test is FDA approved. It is a commercial test regulated by different laboratory guidelines.

TIME medicine

No, Selfies Aren’t Causing a Teen Lice Epidemic

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Caiaimage/Tom Merton—Getty Images/Caiaimage

One thing is for certain — we’re all taking more selfies than we ever have before. And while social science experts may debate what that says about us, doctors are more concerned about something else entirely: lice.

Lice, those tiny, barely visible parasites that can cling onto fur and hair, are more common in kids, who tend to have more head-to-head contact and share things like hats and helmets. But some doctors have been reporting — anecdotally — that they’re seeing more lice among teens. A few are, rather dubiously, are blaming selfies.

“People are doing selfies like every day, as opposed to going to photo booths years and years ago. So you’re probably having much more contact with other people’s heads,” Dr. Sharon Rink, a Wisconsin pediatrician, said on a local television show.

But there is no data showing the current lice outbreak—which is in 25 states and features lice resistant to the drugs usually used to kill them—is overwhelmingly affecting selfie-snapping teens, the National Pediculosis (that’s the official scientific name for a louse infestation) Association told the Huffington Post. The Centers for Disease Control says six to 12 million kids, aged three to 11 years, get lice in the U.S. each year. Children, and teens, are more likely to pick up lice during close contact in cars, during sleepovers, or sharing headphones, than they are in the few seconds it takes to take a selfie, say some experts.

And many of those raising the alarm have something to do with nit picking — literally. De-lousing salons have sprung up to help reluctant parents who cringe at the idea of tediously taking to the tweezers to pick out the critters, one by one. What better marketing message than to alert the public to a new population of hosts for the ever-hungry louse?

TIME Exercise

Working Out Doesn’t Keep Your Brain Young: Study

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Klaus Tiedge—Getty Images/Blend Images

Being physically active has a lot of health benefits, but the latest research questions whether it can help the brain

Exercise can help the heart, lower the risk of diabetes, keep blood pressure in check and help you maintain a healthy weight. But researchers say you shouldn’t expect it to keep your brain alert.

In a study published in JAMA, Dr. Kaycee Sink, director of the memory assessment clinic at Wake Forest Baptist Medical Center and her colleagues come to the somewhat surprising conclusion that exercise doesn’t help elderly to maintain their brain function. Previous studies that found people who were more active documented less decline in mental abilities over time. And the theory behind the relationship made sense — physical activity can improve circulation and keep brain neurons nourished and fed with the nutrients they need to keep working properly.

MORE: How Exercise Helps Curb Alzheimer’s Symptoms

But when Sink and her team put the idea to the test with a group of 1,635 elderly, sedentary people aged 70 to 89 years, they found that exercise didn’t provide the benefits they expected for most people. The participants were randomly assigned to either a moderately vigorous exercise regimen of walking or a health education program that was interactive but didn’t involve as much physical activity. After two years, the scores on a battery of cognitive function tests for the two groups were about the same. The relationship held even after the researchers adjusted for the potential effects of other factors that could contribute to cognitive abilities.

The idea that exercise doesn’t help the brain “flies in the face of conventional wisdom,” says Sink. “But it’s possible that exercise isn’t beneficial in this group above and beyond any health education.”

MORE: Here’s the Amount of Exercise That Lowers Breast Cancer Risk

She did find that among specific subgroups, the physical activity did show some improvement in brain function. Those aged 80 years or more, for example, as well as the frailest participants, seemed to show benefits in executive functions such as recall, memory and learning. That suggests that timing and duration of physical activity may be critical.

She cautions, however, that people shouldn’t turn back to the couch. It’s also possible that what the results show isn’t so much exercise’s lack of benefit, but the health education program’s impressive effect. The education program involved interactive activities to teach the seniors about healthy behaviors, and was not simply a series of lectures that the participants absorbed passively. The study participants met regularly and made friends with their fellow classmates, and looked forward to the sessions as social outings. That social stimulation may be as important as physical activity in keeping brain functions sharp, says Sink.

Because the volunteers in the study were older, Sink says that the exercise may not have started early enough or lasted long enough for it to have significant effects on the brain. “We certainly can’t rule out that exercise is something that needs to start earlier,” she says. “Life long healthy habits are probably important.”

MORE: This Is Your Brain on Exercise

And, she says, there are other health benefits of exercise beyond the brain. “Even though we couldn’t prove that exercising is better for the brain than attending education classes, exercise is still good for the body in m any ways,” she says. “So I would say to continue to exercise and stay physically active, but also try to stay cognitively and socially active as well.”

TIME Diet/Nutrition

Omega-3 Supplements Don’t Improve Memory: Study

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Getty Images

Popping fish oil pills may not be a boon to the brain, according to the latest study

The data has been building, slowly but surely, and now the strongest study yet may finally dispel the myth that taking omega-3 supplements can protect the brain from cognitive decline and dementia.

The connection between omega-3s, the fatty acids found most abundantly in foods like fish, and brain function emerged from large studies of people who answered questions about their diet and then performed tests on things like recall, memory and executive thinking functions. That data strongly suggested that people eating more omega-3s, including those who took supplements, tended to score higher on cognitive tests.

MORE: Omega 3s Reality Check: Are We Over-Exaggerating Their Benefits?

But in the latest study, published in JAMA, researchers found no such benefit when they explored the supplement in a group of 3,073 elderly people at risk of developing macular degeneration, a condition that causes vision loss with age. What set this study apart was the fact that the scientists did not rely on the participants’ recall of what they ate, but randomly assigned them to take omega-3 pills or a placebo for five years. All of the participants were tested on cognitive skills at the start of the study and came back every two years for additional assessments.

During that time, study leader Dr. Emily Chew, deputy director of the division of epidemiology and clinical applications at the National Eye Institute (part of the National Institutes of Health) says, she did not see significant differences in the cognitive scores between the two groups.

It’s possible that in Chew’s study, it was too little, too late in terms of seeing any effects of the omega-3s on cognition in this group of elderly participants. Something like omega-3 fatty acids may take years or decades to exert an effect, just as the decline associated with dementia takes place over a long time course. “The bottom line is that supplements are not the fast cure,” says Chew. “You are what you eat, and you’ve got to eat well. Maybe it was too late for some of the people in our study.”

MORE: Omega-3 Supplements Don’t Lower Heart Disease Risk After All

There are other important things to consider about Chew’s study, however, beginning with the fact that all of the participants were at high risk of developing macular degeneration. (The study was originally designed to test whether omega-3 supplements and other antioxidants could slow or reverse the vision loss in these patients.) Do people with macular degeneration differ in some ways from the average population? Does their condition make them less likely to respond to omega-3 fatty acids? The answers to those questions aren’t clear yet. Previous studies that have followed healthy participants over six years or also found that people with higher omega-3 intake did not score significantly higher on cognitive tests than those with lower levels.

Does that mean omega-3s aren’t the health-boon they were thought to be? Not necessarily. First, there’s the question of whether omega-3 fatty acids from the diet, from foods such as fatty fish, can have more potent effects on health than supplements. “It looks like high dose omega-3 supplementation is not the same as eating high amounts of omega-3s in a healthy dietary pattern high in marine fish and other beneficial foods and nutrients,” says Frank Hu, professor of nutrition and epidemiology at Harvard T.H. Chan School of Public Health, who was not involved in the study.

The takeaway for now, says Chew, is that it’s more important to adopt a long-term approach to healthy aging as opposed to a quick fix in a bottle of pills. Taking time and effort to live a healthy life, with a nutritious diet and regular exercise, may be far more potent when it comes to maintaining mental abilities than any supplement could accomplish. “Supplements cannot replace a healthy dietary pattern,” says Hu. “If you eat a healthy diet with high amounts of fruits, vegetables and marine fish, you probably don’t need to take fish oil supplements. The overall dietary pattern is more important than a single nutrient.”

TIME Health Care

Planned Parenthood Protesters Rally Across the Country

Protesters held signs reading 'Planned Parenthood Sells Baby Parts'

Protesters gathered at 320 Planned Parenthood clinics around the country on Saturday calling for the end to federal funding for the health care provider.

The Washington Post reports the protesters held signs reading ‘Planned Parenthood Sells Baby Parts’ and participated in prayers and chants.

Controversy over the organization, which provides health services including abortion, erupted recently when undercover videos by anti-abortion activists purported to show Planned Parenthood personnel engaging in illegal activity and selling fetal tissue for profit. Planned Parenthood has denied the allegations, arguing the videos were heavily edited and taken out of context.

MORE: Why We Still Need Fetal-Tissue Research

In a statement, Planned Parenthood vice president Eric Ferrero said, “These rallies are meant to intimidate and harass our patients, who rely on our nonprofit health centers for basic, preventive health care.”

[Washington Post]

TIME animals

New Panda May Be Born Soon at National Zoo

Giant Panda Mei Xiang snacks on bamboo at the Snithsonian's National Zoo in Washington
Smithsonian's National Zoo—Reuters Giant Panda Mei Xiang snacks on bamboo at the Snithsonian's National Zoo in Washington on April 19, 2015.

Mei Xiang, a giant panda, could give birth in 24 hours if all goes well

Panda lovers are on baby watch at Washington D.C.’s National Zoo.

Mei Xiang, a giant panda, is in labor, the Washington Post reports, and zoo officials say she could give birth in 24 hours if all goes well.

The female panda was loaned to the zoo after being born in Sichuan, China. She’s had two cubs already, born in 2005 and 2013, and has also given birth to both a stillborn cub and a panda that died several days after being born.

Her experience highlights the fragility of panda newborns, and zoo officials are keeping close watch on the expectant mother using the zoo’s “pandacam.”

Mei Xiang was artificially inseminated twice in April with semen from the Zoo’s male panda, Tian Tian, and a male panda from a research center in Wolong, China, who was found to be a good genetic match for the expectant mother.

[Washington Post]

 

TIME celebrities

Watch Olivia Munn and Aaron Rodgers Lip Sync Their Hearts Out on Instagram

The couple cover Mariah Carey, Boyz II Men, and 'The Princess Bride'

Looks like actress Olivia Munn (X-Men: Apocalyse) and Green Bay Packers quarterback Aaron Rodgers are having too much fun. The two have discovered an app that helps make lip sync videos and they’re quickly amassing a library of clips that could form its own reality show.

After going through a sword-fighting phase, they’re now re-creating the Princess Bride (“I’m not a witch, I’m your wife!) and lip syncing to Mariah Carey’s “Hero” and Boyz II Men’s “End of the Road.” Watch for Rodgers’ heartfelt interpretation of the lyrics. It’ll bring a tear to your eye.

 

#princessbride

A video posted by Olivia Munn (@oliviamunn) on

Pure emoting

A video posted by Olivia Munn (@oliviamunn) on

Last one…

A video posted by Olivia Munn (@oliviamunn) on

TIME France

5 Things to Know About the Americans Who Stopped the French Train Attack

What to know about the Americans who thwarted the attack

On Friday, three Americans helped to subdue a rifle-toting attacker on a French high speed train traveling from Amsterdam to Paris before he could carry out an attack. Here’s what we know about the men U.S. European Command Commander Gen. Philip Breedlove called “heroes.”

Who They Are

The Americans, Alek Skarlatos, Spencer Stone and Anthony Sadler, are friends who were traveling in Europe on vacation, according to CNN. Stone and Sadler live in Sacramento, Cal. while Skarlatos is from Roseburg, Ore. Sadler is a senior at Sacramento State University studying physical therapy.

Their Training

Stone is a member of the Air Force, Skarlatos is a member of the National Guard who recently returned from Afghanistan, and Sadler is a civilian.

How They Stopped the Attack

When the friends heard glass shattering and people running, they decided to overtake the attacker, who was carrying a Kalishnikov rifle, a pistol, box cutter and other weaponry. According to an account Skarlatos gave to the New York Times, Spencer grabbed the gunman by the neck while Skarlatos managed to wrest his rifle away.

Sadler described the attack to the Associated Press:

“As he was cocking it to shoot it, Alek just yells, ‘Spencer, go!’ And Spencer runs down the aisle,” Sadler said. “Spencer makes first contact, he tackles the guy, Alek wrestles the gun away from him, and the gunman pulls out a boxcutter and slices Spencer a few times. And the three of us beat him until he was unconscious.”

Their Injuries

Stone was slashed by the box cutter in the head and neck multiple times. He is being treated at a nearby hospital, along with two passengers, one of whom was shot and another who was slashed in the neck.

What They’re Doing Now

French President Francois Holland will meet with the Americans in coming days, while U.S. President Barack Obama praised their travelers in a statement: “Their heroic actions may have prevented a far worse tragedy,” he said.

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