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Impotence Drug May Help Fight Rare Lung Disease: Study

By Dennis Thompson
HealthDay Reporter

WEDNESDAY, Aug. 26, 2015 (HealthDay News) — A combination treatment that includes the active ingredient in the erectile dysfunction drug Cialis may reduce death and hospitalization from an incurable lung disease that mainly affects women, a new clinical trial shows.

When combined with a blood pressure medication called ambrisentan (Letairis), a high dosage of tadalafil (Adcirca) significantly reduced the progression of pulmonary arterial hypertension, according to results published in the Aug. 27 issue of the New England Journal of Medicine. The condition involves high blood pressure in the arteries leading into the lungs.

Patients who took the combination therapy were half as likely to die, require hospitalization or have severe progression of their illness, when compared with people who only received one of the two drugs, researchers found. People using tadalafil for pulmonary arterial hypertension take 40 milligrams (mg) a day, while the dosage for erectile dysfunction runs between 2.5 mg and 20 mg a day.

The results were so encouraging that the marketer of ambrisentan in the United States has submitted a request to the U.S. Food and Drug Administration so this combination use can be added to the drug’s label, said senior study author Dr. Lewis Rubin, an emeritus professor of medicine at the University of California, San Diego School of Medicine.

Dr. Carl Pepine, past president of the American College of Cardiology, said the results “offer an easy-to-use additional treatment for patients who have this unfortunate condition, who are largely women.”

The two drugs work in different ways to ease the effects of pulmonary arterial hypertension, so researchers decided to see if their impact would be greater used in tandem, Rubin explained.

“This is a complex disease. There’s no magic bullet,” Rubin said. “We postulated that the more pathways you target, the better the effect would be.”

Pulmonary arterial hypertension causes people to be chronically short of breath, as their blood has difficulty getting through the lungs to pick up oxygen. It eventually leads to heart failure because the heart has to pump harder to keep blood circulating through the body.

Pulmonary arterial hypertension is relatively rare, Rubin said, affecting about 50,000 people in the United States. Average survival is roughly two years following diagnosis.

Tadalafil works by blocking PDE5, an enzyme that breaks down a substance called nitric oxide that promotes dilation of blood vessels. With more nitric oxide available, the arteries feeding the lungs are better able to dilate, increasing blood flow.

Ambrisentan works by inhibiting endothelin, a substance that causes blood vessels to constrict, Rubin said. Thus, one drug promotes dilation of blood vessels while the other works to prevent constriction.

Researchers recruited 500 people with pulmonary arterial hypertension to take part in the clinical trial. The study involved 120 medical centers in 14 countries, and ran between October 2010 and July 2014.

About half of the study participants received both drugs, while one-quarter received the high dose of tadalafil alone and another quarter received ambrisentan alone.

Only about 18 percent of people on combination therapy died or experienced severe progression of pulmonary arterial hypertension, compared with 31 percent of people taking either ambrisentan or tadalafil alone, the study found.

And it appeared that using the two drugs together produced no additional side effects, Rubin and Pepine said.

“I was impressed with the relatively good tolerability,” said Pepine, director emeritus of the cardiovascular medicine division at the University of Florida College of Medicine in Gainesville. “I think that will encourage us to use this combination treatment earlier in the course of the disease. It’s possible we might be able to prevent these women from emerging into a very symptomatic stage, where their daily activities are greatly impaired.”

The men taking the combination therapy also might derive other benefits from the tadalafil, given that the dosing is higher for pulmonary arterial hypertension than it is for erectile dysfunction, Rubin said.

“These are sick patients. It’s not uncommon for the men to have erectile dysfunction because they’re sick. Clearly, some of them are deriving some off-target benefits, if you will,” Rubin said. “But their main focus is they can’t breathe and their heart is giving out.”

The clinical trial was funded by Gilead Sciences and GlaxoSmithKline, which sell ambrisentan in the United States and Europe, respectively.

More information

For more on pulmonary arterial hypertension, visit the American Lung Association.





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Cutting-Edge Gene Tests May Improve Management of Autism

By Dennis Thompson
HealthDay Reporter

TUESDAY, Sept. 1, 2015 (HealthDay News) — A pair of genetic tests could help parents and doctors better understand the numerous challenges that a child newly diagnosed with autism might face throughout life, a new study suggests.

The tests tracked down genes that could explain the nature of a child’s autism susceptibility in nearly 16 percent of cases, according to findings published Sept. 1 in the Journal of the American Medical Association.

That number increased to almost 38 percent when researchers used the cutting-edge tests to assess children with certain physical abnormalities. These birth defects are an indication that those children had suffered developmental problems stretching back to the womb, said senior study author Dr. Bridget Fernandez, chair of genetic medicine at Memorial University of Newfoundland in Canada.

Fernandez and her colleagues anticipate that genetic testing of children with autism will continue to increase. She and some other experts believe that, based on the study results, doctors should encourage these tests for kids who show physical signs of developmental problems.

Doctors may be better able to care for children with autism using these tests, because they will have a basic genetic understanding of the kid’s condition, Fernandez said.

For example, the genes linked to a child’s autism might predispose them to obesity or diabetes.

Another autism-linked gene can make children much more prone to seizures, said Mathew Pletcher, vice president and head of genomic discovery for Autism Speaks.

“With that knowledge, now you can start to plan for, prescribe for and treat for those [pending] health issues,” Pletcher added.

The two genetic tests are called chromosomal microarray analysis and whole-exome sequencing. “They are two very comprehensive tests that haven’t been around for too long,” Fernandez said.

Chromosomal microarray analysis identifies abnormalities in a person’s chromosomes, and already is recommended as a first-tier genetic test for people with autism, the researchers said in background notes.

Whole-exome sequencing examines the protein-encoding parts of all of someone’s genes, to look for potential disease-causing anomalies. This test is used mainly in a research setting, Fernandez explained.

It’s estimated that one in 68 American children is on the autism spectrum. The term refers to a group of complex disorders of brain development.

To examine the tests’ potential, the research team used them to assess 258 unrelated children diagnosed with autism spectrum disorder. Their average age was 4.5 years.

Separately, each test was able to track potential genetic causes of autism about equally — about 9 percent for chromosomal microarray analysis and more than 8 percent for whole-exome sequencing.

But the combined tests were effective almost 16 percent of the time. And that effectiveness more than doubled when assessing kids with subtle physical signs of developmental problems, such as differences in the creases on a palm or an oddly shaped ear, the researchers said.

Fernandez expects that the effectiveness of the tests will increase over time, as researchers identify more genes related to autism. “There are still things out there that we don’t know to look for,” she said.

She hopes that knowledge of the genetics behind autism will lead to medications that target those particular faulty genetic pathways. In that case, these tests could help doctors prescribe appropriately targeted drugs to autistic children.

Years down the line, the tests might also be useful in screening siblings of children diagnosed with autism, to see whether they might develop problems related to autism, she said.

But at this point “the tests aren’t cheap,” Fernandez said. Whole-exome sequencing can run from $3,000 to $5,000, while chromosomal microarray analysis costs about $1,500, she said.

Despite this, the tests are so useful that parents of an autistic child should consider them even if their child underwent a genetic exam years ago, said Dr. Judith Miles, a professor emerita of child health genetics at the University of Missouri’s Thompson Center for Autism and Neurodevelopmental Disorders.

“Things have changed,” Miles said. “Families who were evaluated a while ago, it’s very reasonable to come back and allow us to have another look. These tests give you a more specific diagnosis that lets us personalize the care.”

More information

For more on autism and genetics, visit Autism Speaks.





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Day Care Won’t Cause Aggressive Behavior in Child, Study Finds

TUESDAY, Sept. 1, 2015 (HealthDay News) — Day care does not appear to lead to aggressive behavior in children, according to a new study based on Norwegian children.

Parents worried about day care’s effect on their kids should feel reassured by the findings, the researchers said.

They interviewed the parents of nearly 1,000 children in Norway enrolled in day care when the youngsters were 6 months and 1, 2, 3 and 4 years old. Each year, the children’s day care teachers reported on any aggressive behaviors such as hitting, pushing and biting.

At age 2, those who began day care at an earlier age showed slightly higher levels of aggression than those who began at a later age. However, these differences eventually disappeared, the study revealed.

By age 4, there was no evidence that being in day care increased children’s risk of aggression, according to the study published recently in the journal Psychological Science.

“If early, extensive and continuous nonparental care does, in fact, cause high levels of aggression in children, this study suggests that one year of parental leave, and entry into high-quality center care thereafter, may help prevent such an outcome,” the researchers wrote. In Norway, most parents have up to a year of parent leave, they added.

“From a public perspective, our findings are important because they should help ease parents’ fears about the potential harms of early nonparental child care,” study lead author Eric Dearing, a psychological scientist at the Boston College School of Education, said in a journal news release.

He and his colleagues plan to examine potential benefits day care may offer children in terms of language development and learning.

More information

The American Academy of Pediatrics offers advice about choosing a child care facility.





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Your Heart Is Likely ‘Older’ Than You Are

By Steven Reinberg
HealthDay Reporter

TUESDAY, Sept. 1, 2015 (HealthDay News) — Three out of four American adults have a heart that’s “older” than their years, raising their risk for heart attack or stroke, federal health officials said Tuesday.

Your “heart age” is based on a risk profile that includes blood pressure, smoking history, diabetes and body mass index.

“Half of U.S. men and nearly half of U.S. women have a heart age that’s five or more years older than their chronological age,” Dr. Tom Frieden, director of the U.S. Centers for Disease Control and Prevention, said at a media briefing.

The idea of heart age was created to communicate a person’s risk of dying from heart attack or stroke, and to show how to lower that risk, Frieden said.

Doctors can use risk assessment calculators to aid treatment decisions and encourage patients to adopt healthy habits, he explained.

A 53-year-old woman may learn her heart age is 75. “That’s because she smokes and has uncontrolled high blood pressure,” Frieden said.

Or a 45-year-old man might find out that his heart is 30 years older than he is because he has untreated high blood pressure, smokes and has diabetes.

“For that woman or that man, learning your heart age can be a call to take charge of your health,” Frieden said.

How can you do that?

Maintaining healthy blood pressure, cholesterol levels and body weight, engaging in regular physical activity and not smoking will help turn back the clock, said Dr. Gregg Fonarow, a professor of cardiology at the University of California, Los Angeles.

“Individuals can take proactive steps to reduce their heart age and as a result live longer and healthier lives, free from heart disease and stroke,” Fonarow said.

It’s never too late, Frieden added, noting a 50-year-old smoker who quits can gain 14 years of heart life.

The findings from the new report can also be used to boost heart health among groups at the highest risk of heart attack and stroke, Frieden said.

State and local health departments can help by promoting healthier living spaces, such as tobacco-free areas, more access to healthy food options, and safe places to walk, he said.

For the
Vital Signs report, CDC researchers used risk factor data from every state and information from the Framingham Heart Study. Key findings include:

  • The average adult man has a heart age eight years older than his chronological age. The average woman’s heart is five years older.
  • On average, heart age exceeds chronological age in all racial/ethnic groups. It’s highest among blacks (average of 11 years older for men and women).
  • Among men and women, excess heart age decreases with increased education and increased income.
  • Heart age differs across states, with Southerners having the oldest hearts. Mississippi, West Virginia, Kentucky, Louisiana and Alabama have the largest percentage of adults with a heart age five years or more over their actual age. Utah, Colorado, California, Hawaii and Massachusetts have the lowest percentage.

“Heart disease and stroke remain leading causes of death, disability and health care expenditures for men and women in the United States,” said Fonarow. “However, the majority of fatal and nonfatal heart attacks and strokes are preventable.”

More information

Click on the Heart Age Predictor to check your heart age.





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Dumbell jump squat

Work your quads, hamstrings, glutes, calves and abs with these dumbbell jump squats.

How to

1. Hold dumbbells by your side, the weight should be light enough that it doesn't slow you down significantly.

2. Your feet should be just outside of shoulder width with your head and chest up. This will be your starting position.

3. Squat down and immediately reverse your direction to explode off the ground, extending through your hips, knees and ankles. Maintain good posture through the jump.

4. As you return to the ground, absorb the impact through your legs.


NEXT:
try unweighted Jump squats or check out more workouts for Lean legs


Words and workout by Melissa Le Man, images by Noel Daganta

{nomultithumb}



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Lack of Sleep Dramatically Raises Your Risk For Getting Sick

Getty Images

Getty Images

TIME-logo.jpg

If you want to stay healthy, skip sleep at your own risk. According to the new results of a new study, people who slept six hours a night or less were four times as likely to get sick after being exposed to the cold virus compared with those who got more sleep.

The study, published in the September issue of the journal Sleep, looked at 164 healthy adults who volunteered to catch a cold for science. The researchers first equipped the volunteers with a wrist gadget to monitor how much they slept per night over the course of a week. A couple of weeks later, they brought them into the lab and injected live rhinovirus into their nose. They then quarantined them in a hotel for five days and took a virus culture from their nose each day to see who got sick.

How many hours a person slept, it turns out, was one of the strongest predictors of whether or not they got sick—even more than other factors like a person’s age, body mass, stress levels or emotional state. People who slept six hours a night or less were four times as likely to develop a cold compared to people who slept more than seven hours a night. Those who got less than five hours of sleep a night were at 4.5 times that risk.

The study wasn’t designed to figure out the link between sleep and sickness, but Aric Prather, lead author of the study and assistant professor of psychiatry at the University of California, San Francisco, had some theories. “We know that sleep plays an important role in regulating the immune system,” he says. When we don’t sleep enough, our internal environment shifts to make us less effective at fighting off a virus, he explains; studies have shown that important immune cells are increased in the blood, meaning they’re not where we really need them to be—in the immune organs like the lymph nodes—to effectively fight off viruses.

Shortened sleep also seems to alter the inflammatory response, which helps our bodies clear out viruses when it’s functioning properly, he says.

“This is really the first convincing evidence that objectively verified sleep is associated with susceptibility to the common cold, which is a huge deal for the sleep research community,” Prather says.

Sleeping more isn’t quite a cure for the common cold, but it could go a long way in protecting you from getting sick in the first place.

This article originally appeared on Time.com.




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The Surprising Health Risks of Being the First-Born Child

Credit: Getty Images

Credit: Getty Images

Struggling with your weight while your baby sister is thin as a rail? Turns out, you’re probably not alone. First-born women may be more likely to be overweight or obese than their younger sisters, according to a new study in the Journal of Epidemiology & Community Health.

For the study, researchers looked at more than 13,000 pairs of Swedish sisters and found that the older siblings were 29% more likely to be overweight and 40% more likely to be obese by their mid-twenties than their younger counterparts. (Keep in mind that this isn’t a huge jump in risk; that means older siblings have 1.29 times the risk of being overweight and 1.4 times the risk of being obese than young sibs, rather than say 10 or 20 times the risk.)

If it’s proven, it is unclear why older sisters may end up heavier, but one hypothesis is that during a first pregnancy, the blood vessels in a mother’s uterus are more narrow. “And this information has led to the hypothesis that first-borns were exposed to in utero compromise, which reprograms metabolism and the regulation of fat,” study co-author Wayne Cutfield explained to Today.com. In other words, a lower energy supply in the womb may lead to a bigger appetite and the way the body regulates weight later on. Or it’s possible that the care and feeding of a first-born differs from siblings in a way that impacts weight later on.

RELATED: 17 Ways to Lose Weight When You Have No Time

Interestingly, this is not the first study to link health issues to being the oldest. For one thing, this study echoes previous findings that first-born men are also more likely to be heavier than their kid brothers.

But also, eldest children may be more likely to have reduced insulin sensitivity (a problem linked to the development of type 2 diabetes) and higher blood pressure compared to later-born children, a 2013 study in the Journal of Clincial Endocrinology & Metabolism found. This may set the stage for a higher likelihood of metabolic and cardiovascular diseases in adulthood, the authors concluded.

Another possible health struggle: allergies. In 2011, Japanese researchers surveyed the parents of more than 13,000 children from age 7 to 15 and found that hay fever and food allergies were more common among eldest children.

RELATED: 25 Ways to Allergy-Proof Your Home

What about personality?

While smaller studies have linked being the oldest to having more smarts, better language skills, and even more sexual partners, forthcoming research from the Journal of Research in Personality suggests all that is mostly bunk. The researchers looked at the connection between birth order and 19 different personality traits and intelligence attributes (like verbal or math ability) in 377,000 U.S. high school students only to conclude that when you account for factors like age, sex, socio-economic status, and family structure, it is very unlikely that birth order means very much at all.

It’s sort of a bummer, but the next time your sibling spouts on about the oldest being the smartest or the youngest being more rebellious, here’s your ammunition.

RELATED: 10 Ways Your Personality Affects Your Weight




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Cutting Calories May Help You Fend Off Age-Linked Disease: Study

TUESDAY, Sept. 1, 2015 (HealthDay News) — Want to enjoy a healthier old age? Try eating a little less each day.

That’s the suggestion from a new study led by researchers at the U.S. National Institute on Aging (NIA).

The “results are quite intriguing,” study co-author Dr. Evan Hadley, director of geriatrics and clinical gerontology at the NIA, said in an agency news release. “They show that this degree of sustained calorie restriction can influence disease risk factors and possible predictors of longevity in healthy, non-obese people.”

The research included more than 200 healthy adults. The adults were young or middle-aged, and either at normal weight or slightly overweight. They were randomly assigned to either a calorie restriction group or to a control group who continued their regular eating habits.

Previous animal studies have shown that calorie restriction — taking in fewer calories while still getting essential nutrients — extends longevity and slows progression of many age-related diseases, the researchers said.

The participants in the calorie restriction group were given a target of 15.5 percent weight loss in the first year, the researchers said. To do that, the study volunteers would need to reduce their calorie intake by 25 percent. They were asked to keep their weight stable in the second year of the study.

The people in this group lost an average of 10 percent of their body weight in the first year, and maintained this weight loss over the second year. Even though the group did not achieve the weight loss target, it was the largest sustained weight loss seen in any dietary trial in non-obese people, according to the researchers.

The average 12 percent decline in calorie intake was far short of the 25 percent target, but the participants maintained calorie restriction for the entire two years of the study.

The people in the calorie restriction group didn’t have any of the changes in metabolism that were seen in previous animal studies. But they did have significant improvements in several predictors of heart disease, including a 6 percent decrease in total cholesterol, a 4 percent fall in blood pressure, and increased levels of “good” HDL cholesterol.

Calorie restriction also led to a 47 percent decrease in levels of C-reactive protein, a marker of inflammation linked to heart disease. Reduced insulin resistance, a risk factor for diabetes, was also seen.

Levels of a marker of thyroid activity fell by more than 20 percent. Some studies have suggested that lower thyroid activity may be associated with longer life span.

However, some of the people in the calorie restriction group developed temporary anemia. Some also had larger-than-expected decreases in bone density, the study found. These findings highlight the importance of medical monitoring during calorie restriction, according to the study authors.

Hadley said it’s important to see if calorie restriction would offer additional long-term benefits. And he said it would be useful to learn if calorie-restricted weight loss offered more benefits than exercise-induced weight loss.

The study is in the September issue of the Journal of Gerontology: Medical Sciences.

More information

The U.S. Food and Drug Administration explains how to make your calories count.





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Genetics May Help Guide Kids’ Cancer Treatment

By Amy Norton
HealthDay Reporter

TUESDAY, Sept. 1, 2015 (HealthDay News) — When a child has cancer that resists standard therapies, the outlook can be grim. But a new study suggests that for some children, extensive genetic analysis can open up options.

The study found that among children with rare or aggressive cancers, genetic sequencing revealed potentially “actionable findings” in almost half of them. For some, that meant a change in diagnosis; for others, an inherited gene mutation was found, which allowed other family members to be tested.

And for 10 percent of the children, doctors were able to start therapy with a newer, “targeted” cancer drug that either temporarily beat the cancer back, or brought a complete remission.

On the surface, those numbers might not seem very encouraging, said lead researcher Dr. Rajen Mody, a pediatric oncologist at the University of Michigan C.S. Mott Children’s Hospital, in Ann Arbor.

“But these are the hardest of the hard cases. They’ve gone through all the tests and the treatments we have,” said Mody. “These are the children for whom we haven’t seen any real improvement in outcomes in the past 40 years.

“This offers some hope that we’ll be able to treat these children in a more personalized way,” he said.

In this case, “personalized” means zeroing in on the genetic mutations that make a child’s cancer unique, and then, if possible, targeting it with a drug — either an approved medication or one being tested in a clinical trials.

In the past several decades, huge strides have been made in treating childhood cancer. The most common childhood cancer, acute lymphoblastic leukemia, illustrates that point: In the 1960s, less than 10 percent of children survived the disease, according to the U.S. National Cancer Institute. Today, 90 percent do.

But that success has sometimes overshadowed the fact that other childhood cancers — such as some subtypes of leukemia, and certain tumors in the brain and nervous system — have resisted everything doctors throw at them. And when a child’s cancer recurs after initially responding to treatment, the odds of successfully battling back the disease vary, but are often low, according to background information in the study.

“A lot of people look at childhood cancer as a solved problem, but that’s not the case,” said Dr. John Maris, a pediatric oncologist at the Children’s Hospital of Philadelphia.

Maris co-wrote an editorial being published with the study in the Sept. 1 Journal of the American Medical Association.

According to Maris, the findings are important because they show that genetic sequencing has the potential to help children with cancer that relapses or fails to respond to treatment at all.

“But we still have a long way to go,” Maris said. Probably the biggest obstacle is that newer drugs often can’t be used for children because there is no data on their safety and effectiveness for kids — and there are no pediatric clinical trials underway.

The current findings are based on 91 pediatric cancer patients at Mott Children’s Hospital who were out of standard treatment options. Mody’s team analyzed each child’s genetic blueprint, or genome — including DNA and RNA from their tumors and healthy tissue.

It was an undertaking that typically required about 50 days and $6,000 for each child (though the study covered families’ costs), the study said.

In the end, Mody’s team found, 46 percent of the children had a genetic finding that could potentially be acted upon. Doctors were able to take that action for only some kids, though — including 14 children who started a new therapy, the study reported.

Those children were placed on recently developed, “targeted” cancer drugs — which zero in on specific mutations in a patient’s cancer cells. Overall, nine of the children responded, with either a partial or complete remission, the researchers found.

Mody agreed that the lack of targeted drugs available for children is a huge hurdle. The fact that a drug is approved or under study for adults does not mean it’s suitable for children, especially young children.

“A drug may only be available in a big pill that a little 2-year-old can’t take,” Mody said.

“What we need,” he said, “are more clinical trials with pediatric populations.”

One of the issues with that, Maris said, is that drug companies tend to be “risk-averse” when it comes to studying children. “There’s a fear of the drugs being more toxic in children,” he said.

But, Maris added, many families of children with incurable cancer would be willing to take that chance.

Other pediatric cancer centers are doing similar genetic sequencing, according to Maris. And it’s thought that with time, the costs and the turnaround time for results will decline.

What’s needed, Maris said, is a revamped system for developing and delivering new drugs to children with cancer.

More information

The American Cancer Society has more on childhood cancers.





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Cutting-Edge Genetic Tests May Improve Management of Autism

By Dennis Thompson
HealthDay Reporter

TUESDAY, Sept. 1, 2015 (HealthDay News) — A pair of genetic tests could help parents and doctors better understand the numerous challenges that a child newly diagnosed with autism might face throughout life, a new study suggests.

The tests tracked down genes that could explain the nature of a child’s autism susceptibility in nearly 16 percent of cases, according to findings published Sept. 1 in the Journal of the American Medical Association.

That number increased to almost 38 percent when researchers used the cutting-edge tests to assess children with certain physical abnormalities. These birth defects are an indication that those children had suffered developmental problems stretching back to the womb, said senior study author Dr. Bridget Fernandez, chair of genetic medicine at Memorial University of Newfoundland in Canada.

Fernandez and her colleagues anticipate that genetic testing of children with autism will continue to increase. She and some other experts believe that, based on the study results, doctors should encourage these tests for kids who show physical signs of developmental problems.

Doctors may be better able to care for children with autism using these tests, because they will have a basic genetic understanding of the kid’s condition, Fernandez said.

For example, the genes linked to a child’s autism might predispose them to obesity or diabetes.

Another autism-linked gene can make children much more prone to seizures, said Mathew Pletcher, vice president and head of genomic discovery for Autism Speaks.

“With that knowledge, now you can start to plan for, prescribe for and treat for those [pending] health issues,” Pletcher added.

The two genetic tests are called chromosomal microarray analysis and whole-exome sequencing. “They are two very comprehensive tests that haven’t been around for too long,” Fernandez said.

Chromosomal microarray analysis identifies abnormalities in a person’s chromosomes, and already is recommended as a first-tier genetic test for people with autism, the researchers said in background notes.

Whole-exome sequencing examines the protein-encoding parts of all of someone’s genes, to look for potential disease-causing anomalies. This test is used mainly in a research setting, Fernandez explained.

It’s estimated that one in 68 American children is on the autism spectrum. The term refers to a group of complex disorders of brain development.

To examine the tests’ potential, the research team used them to assess 258 unrelated children diagnosed with autism spectrum disorder. Their average age was 4.5 years.

Separately, each test was able to track potential genetic causes of autism about equally — about 9 percent for chromosomal microarray analysis and more than 8 percent for whole-exome sequencing.

But the combined tests were effective almost 16 percent of the time. And that effectiveness more than doubled when assessing kids with subtle physical signs of developmental problems, such as differences in the creases on a palm or an oddly shaped ear, the researchers said.

Fernandez expects that the effectiveness of the tests will increase over time, as researchers identify more genes related to autism. “There are still things out there that we don’t know to look for,” she said.

She hopes that knowledge of the genetics behind autism will lead to medications that target those particular faulty genetic pathways. In that case, these tests could help doctors prescribe appropriately targeted drugs to autistic children.

Years down the line, the tests might also be useful in screening siblings of children diagnosed with autism, to see whether they might develop problems related to autism, she said.

But at this point “the tests aren’t cheap,” Fernandez said. Whole-exome sequencing can run from $3,000 to $5,000, while chromosomal microarray analysis costs about $1,500, she said.

Despite this, the tests are so useful that parents of an autistic child should consider them even if their child underwent a genetic exam years ago, said Dr. Judith Miles, a professor emerita of child health genetics at the University of Missouri’s Thompson Center for Autism and Neurodevelopmental Disorders.

“Things have changed,” Miles said. “Families who were evaluated a while ago, it’s very reasonable to come back and allow us to have another look. These tests give you a more specific diagnosis that lets us personalize the care.”

More information

For more on autism and genetics, visit Autism Speaks.





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