Posted tagged ‘science’

The latest in autism research

August 31, 2015

The Pediatric Insider

© 2015 Roy Benaroch, MD

Science: it may not always be the fastest, coolest, or sleekest way to get from one place to another. And it certainly is prone to dead ends and tangents. But if you want to really understand what something is all about, real science and real research are your best tools. Some great examples come from a few studies that came out this year about autism.

A British study from May, 2015 (summarized nicely here) looked at sets of twins, looking not only at diagnosed autism but at autistic behavior traits. Bottom line: autism is very largely genetic, as demonstrated by the higher association of autistic traits in identical twins. Since sets of twins largely share the same environmental and family influences, looking at identical (ie sharing the same genes) versus fraternal (sharing genes only as siblings) is a well-established way to separate out genetic and environmental influences. Using Fancy Math, the authors conclude that autism’s roots are found in one’s biologic make-up at least 74% of the time, and perhaps much higher than that. Studies like this will help future researchers concentrate on the most likely candidates for autism’s cause.

Another cool study, this one from the University of North Carolina, took the role of genes even further. We know that about 1,000 genes have been linked to autism—meaning that certain variations are more likely to occur in individuals with autism. What these researchers did is take that further, finding the exact functioning of one of these candidate genes. They found that the gene encoded for an altered protein that incorrectly flags other proteins in a cell for destruction. This causes the appearance of what are called ‘spines’ on cells in the brain—and, sure enough, we already knew that these spines were more common in kids with autism. It’s like connecting a circle—you start by figuring out which genes are present in autism, then figure out what they do, then confirm that the result of having these genes is present in children with autism. That’s how we go from understanding why autism occurs (a change in a gene) to how it occurs. And once we know how it occurs, we can start working on reversing or stopping the process, to preventing the altered gene from causing problems.

Studio 54The internet is a noisy disco of flashy memes, slogans, and catchphrases. And, of course, ubiquitous Google searches ironically misunderstood as “research.” But those sorts of things don’t help anyone really understand what’s going on. Want to understand and help families with autism? Support the science, not the noise.

New therapies aren’t necessarily better

August 9, 2013

The Pediatric Insider

© 2013 Roy Benaroch, MD

The thing about science: it’s not a body of knowledge, or a list of facts. It’s a method. It’s looking at natural things, explaining them, and testing ideas to see if they’re right. More experiments (and better experiments) on more ideas leads to improved understanding and better ways to predict and influence what happens.

But science doesn’t go in a straight line. Not every study is valid, and not every idea is right. Sometimes it takes years (or centuries!) to figure things out. The path is winding and it is difficult to see what’s around the next corner. Still, for matters related to medicine, I think science is the best way to lead us to better health.

Case in point: good science shows us that the way we’re doing things isn’t always the best way. A recent review from the Mayo Clinic looked at ten years of scientific articles, and found that current practices were about as likely to be wrong as correct. Of 363 studies of interventions that were considered “standard of care,” about 40% affirmed that the care good, and about 40% showed that current practice should be changed (the remaining 20% didn’t reach a firm conclusion either way.)

Some examples of studies that contradicted current advice: controlling exposures to mites with impermeable bed covers was found to be of no benefit to asthma sufferers; and pre-implantation genetic studies during in-vitro fertilization actually reduced the rates of pregnancy and live births.

So how should doctors and patients look critically at medical decisions? We can’t just cower in the corner and not make up our minds, waiting for the best possible studies.

Look at the totality of the evidence. The best medical practices are backed up my multiple studies done from multiple points of view. For instance, current vaccine schedules are backed up by hundreds of studies of basic science, immunology, clinical outcomes, and studies of adverse events; these studies have been done in dozens of countries around the globe by thousands of researchers, backed by government, industry, and academic support. The evidence here is a huge mountain that is unlikely to be wrong. Does that mean there isn’t more to learn? Of course not. But vaccine schedules aren’t just a current fad or bandwagon to jump on—there is solid, ever-increasing evidence here that should make people confident.

Be wary of new things. New treatments are hip and cool and heavily marketed, and have that “new car smell” cache. But they’re also more likely to lack multiple studies and solid foundation of experience.

Be humble. Doctors and patients like to be right. Once we’ve decided on a course of action, it is difficult for us to admit we’re wrong and change course. Doing something because we’ve always done it is not good science. Keeping one’s mind open is.

But remember: too much of an open mind means that your brain may fall out. An open mind is good; but there can be too much of a good thing. Look at the world of alternative medicine—have you ever seen any alt-med proponent criticize anything, or proclaim any skepticism of any treatment? To make good decisions we have to be rational, and, yes, judgmental. Things that have no basis in any rational understanding of science, and lack any clinical evidence of any benefit whatsoever (homeopathy), need to be discarded. While other things that do have some rationale and evidence for effectiveness ought to be further investigated and brought into the realm of every-day, real medicine. Doctors and alt-med proponents need to be willing to say, yes, science shows that what we’re doing is wrong.

Do doctors and scientists have all the answers? Of course not. But it’s exhilarating to keep looking.

Beware “alternative” medicine

January 16, 2009

I don’t like the phrase “alternative medicine.”

Medicine, as I see it, ought to mean “something that treats or prevents disease.” It should encompass all modalities and methods that can be shown with reasonable certainty to be effective. Whether it’s a drug developed through the research of a pharmaceutical company, a device invented in someone’s garage, an herb that’s been used for thousands of years, or a physical manipulation technique, all medical treatments should be held to the same standard: good, reproducible, and reliable scientific study should show that the method works. Research should also be used to determine what side effects and risks are likely from the treatment, so doctors and patients can judge the risks versus the benefits to determine if using the method is a good idea.

If the treatment meets this criteria—that is, it can be shown to be effective, and its risks are justified by its benefits—then it should be called, simply, “medicine.” It shouldn’t matter whether it’s from the realm of what some people think of as “traditional medicine” or from the realm of “alternative medicine.” If it works, it’s medicine. If it’s not known whether it works because good studies haven’t been done, a good term for it is “unproven medicine.” If good studies have shown that the treatment is ineffective, the best term I can think of would be “quackery.”

The best, most reliable evidence to prove that a treatment is effective is from a well-designed, randomized clinical trial. One good example of such a study is from 2007, when researchers tried to see if honey was an effective treatment for cough. They enrolled a group of about 100 children with ordinary coughs into the study, and with the parent’s permission randomized the kids into one of three groups. Each group got one of three syringes filled with a potential cough treatment. One contained honey, one contained a standard cough medicine, and one was actually empty (no treatment). The honey was thickened and flavored so it tasted like cough medicine, so the parents and kids couldn’t tell which one they’ve tried. The next day, researchers called the families and asked if the cough had improved.

Why all of the deception with the secret treatments? That’s an essential step. Almost all health conditions will improve on their own, without treatment. Just because a patient took something and got better doesn’t mean that the something actually worked. Maybe the patient would have gotten better anyway. There’s also some strong psychology at work: when we do something that we expect will help us feel better, it does help us feel better. Symptoms like cough or pain or nasal congestion are all subjective. To really prove that a treatment works, it should be shown to be more effective than doing nothing. After all, why should patients accept the expense and risk of a treatment if it doesn’t really do anything more than plain water or a sugar pill?

Science-based medicine is a process that develops and improves with time. As better studies are done and more information is available, some treatments that were once thought to be effective are abandoned in favor of better treatments. Doctors should strive to offer the best and safest available treatments, based on the best scientific information available.

There are several treatments from what’s often called the realm of “alternative medicine” that have passed the tests of science and belong firmly in the treatment toolbox of physicians. These include probiotics for a variety of illnesses, omega-3 supplements for the prevention of heart disease, and melatonin to regulate sleep cycles. I don’t consider these “alternative medicine” at all—they’re just medicines, and have their own well-understood risks and benefits.

That cough study was actually done, and showed that the honey was at least as good as cough medicine at treating cough, maybe even a little better. Based on this and similar studies, we know that cough and cold “medicines” are nearly worthless, and aren’t worth the expense and risks. Good science has shown us that some treatments from the realm of traditional medicine—in this case, cough suppressants—belong in the “quackery” category. The same good science has shown us that something you might have thought of as an alternative medicine—honey—belongs in the realm of “real” medicine.

My main problem with alternative medicine is that its proponents do not share my conviction that these products need to be tested and evaluated. The world of alternative medicine seems to be littered with all sorts of goofy treatments and modalities that haven’t withstood even a whiff of scientific scrutiny. Their proponents seem very reluctant to point any fingers and say “that doesn’t work.” I’m not sure I’ve ever run across any criticism of any alternative medicine modality from any alternative medicine proponent. In the world of alternative medicine, it’s “anything goes.” This makes it very difficult to know what actually works.

In addition, there is very little oversight or regulation of alternative medicine treatments. Supplements and herbs are a billion-plus industry in the United States and other than voluntary industry programs there is no regulatory authority that ensures that what’s on the label is what’s in the bottle. There have been many cases of poisonous substances contaminating herbal products, and there’s no way to know if the product was manufactured, stored, or labeled properly. Just about anyone can call themselves a “natural” practitioner, giving advice and selling products.

A good starting point to read about “alternative health” is Along with several sister-sites, Quackwatch does an excellent job in bringing the light of science to the murky world of alternative medicine. The articles are reliable, honest, and well-referenced.

Book review: Autism’s False Prophets

October 9, 2008

“A lie gets halfway around the world before the truth has a chance to get its pants on.” – Winston Churchill

The scientific and medical community, finally, has got its pants on. (more…)