Archive for the ‘Medical problems’ category

Prenatal screens: Beware misleading results

July 18, 2016

The Pediatric Insider

© 2016 Roy Benaroch, MD

A few years ago, I met a lovely couple at a prenatal visit. Although we usually do these visits in groups, this time we had arranged to get together privately, alone, when the office was closed, when there wouldn’t be other families and children around. I wanted to meet the family, but I didn’t want to be cruel. This wasn’t a typical visit, and I didn’t think they were going to be comfortable sitting in a room full of pregnant women, or a room with children running around. This couple expected their baby to die.

Prenatal screening, the parents told me, had shown that their baby had Trisomy 13. This is a genetic condition involving an extra copy of one chromosome. Most babies who have this do not survive long enough to leave the hospital; the few that do are severely ill, and have multiple health complications. The family had been offered an abortion, but had decided to proceed with the pregnancy. They were well-educated, and certainly realistic – though they had hope, they knew that there was very little chance that their baby would do well. Still, that was the chance they wanted to take. They had heard that I had some experience taking care of children with this condition, and wanted me on board if by some miracle their baby was able to survive, even briefly.

A few months later, Sally was born. And she was normal. She didn’t have Trisomy 13, or really anything else wrong with her, and she was able to leave the hospital in a few days. She’s about 18 months old now, and she’s a great little kid, with red hair, a picky appetite, and a little bit of a temper. Imagine what the parents went through, expecting her to die; and imagine how many parents, told of the grim news, would have elected to abort what would have been a healthy baby.

So what happened? Was the test just wrong? No – the test was done correctly, and the result of the test was, technically, correct. But it was misunderstood, by both the doctors and the parents.

The fundamental misunderstanding was that screening tests are not diagnostic tests. This comes up again and again in medicine, and every week I have to explain to parents why their screening tests for allergies do not necessarily mean that their child is allergic, or that the vision screening test doesn’t mean their child needs glasses. An abnormal mammogram does not mean a woman has breast cancer, and an abnormal prostate antigen blood test doesn’t mean that grandpa has prostate cancer. These are only screening tests, meant to estimate risk—they do not, ever, diagnose disease.

Let me go back to the test done on mom during her pregnancy. It’s called a “cell free DNA” (cfDNA) test, done on blood drawn from mom. During pregnancy, a few cells from the placenta burst, releasing their DNA into mom’s circulation. It’s a tiny amount of DNA, and it’s quickly broken down and cleared, but with some very clever genetic tools that miniscule fraction of fetal DNA can be isolated in mom’s blood, and measured. And it’s that DNA that’s tested to provide the results of the test. The cfDNA can detect conditions where the as-yet-unborn baby has an incorrect number of chromosomes, including Down Syndrome (that’s an extra chromosome 21), Trisomy 13 (an extra 13), other trisomies, or conditions involving the sex chromosomes. These conditions have tremendous implications for a baby’s health, so advance screening is desirable. cfDNA screening can be done easily and painlessly, on a small sample of mom’s blood, with no risk to the baby. Pretty slick.

But that’s the key word, screening. Though it’s testing genetic material from the baby, cfDNA is still a screening test. To really understand why, we’re going to have to do some math (feel free to skip this and the next paragraph if you want to just take my word for it.) The accuracy of a test is expressed by two terms: sensitivity (the number of positive tests divided by the number of people who truly have disease), and the specificity (the proportion of negative tests among a group of people without disease). The sensitivity and specificity of cfDNA testing is excellent – over 99%, which is the “accuracy” figure often quoted in marketing literature about these tests.

But in real life, what we really want to know isn’t the specificity or sensitivity of a screening test. What we need to know is its positive predictive value – that is, in a woman with a positive cfDNA test, what is the chance that her baby will truly have one of these health conditions? To figure that out, you need to apply Bayes Theorem, which requires not only the figures for the accuracy of the test, but the “pre-test probability”. In a screening population with an overall low risk of disease, even a very accurate test is going to have plenty of false positives. If you don’t believe me, follow that link and do some math examples.

Bottom line: for cfDNA testing in a 38 year old woman, the positive predictive value of a “high risk” screen for Trisomy 13 is 37%. (The pre-test probability depends on mom’s age – older moms have an increased risk of babies with chromosomal disorders. You can calculate both the positive and negative predictive values for cfDNA based on the age of mom here.) In other words, even with an abnormal cfDNA screen, the chance of this mom having a baby with Trisomy 13 was 37% — with a 63% chance of the baby being fine.

What should have happened after the abnormal screening test is what should always happen after an abnormal screening test – or, better yet, before the test is even done. Patients need to understand that a positive screen means the condition is “at risk.” Better yet, if there’s solid data, the actual risk percentage should be shared (37%, in this case.) Then the family could decide what to do next. After an abnormal cfDNA test, what should usually be recommended is a diagnostic test, to get a genuine sample of fetal DNA (typically though amniocentesis or chorionic villus sampling.) These diagnostic tests are very, very accurate – and in Sally’s case, if these were done, they would have shown that she did not have Trisomy 13.

But the amnio wasn’t done, in part because the doctors told mom, incorrectly, that the cfDNA was like an amnio, and that the result was conclusive. The doctors fully expected this baby to have Trisomy 13 and even made plans to not do a c-section if the baby ended up in distress. After all, she was going to die, anyway.

The results of screening tests should never be described as “positive” or “negative.” The best way to express the result is “high risk” or “low risk”. The language, here, is really important – and using the right language helps both doctors and patients understand what test results mean. One of the reasons I’m skeptical of patient-ordered tests is that patients may not understand what the results mean (though, admittedly, in this case her doctors didn’t seem to understand the results, either.)

Prenatal screening is a good idea, and cfDNA testing is a good tool. If you’re having these kinds of tests done, make sure you understand what the results mean, and make sure that you have a confirmatory, diagnostic test before you make any decisions that can’t be changed later.

Sally’s story is completely true (other than her name). Thanks to her parents for giving me permission to share it. 


Watson crick franklin



Protect yourself from mosquitoes and Zika

July 5, 2016

The Pediatric Insider

© 2016 Roy Benaroch, MD

I remember a trip to the Florida Everglades in about 1978. Surrounded by mosquitoes, alligators, and miles of swamp, our teachers told us that every creature was a vital part of the food chain, and essential to the ecosystem.

I hate those bloodsuckers. The mosquitoes, I mean. Not the teachers.

Mosquitoes are more than an itchy nuisance. Though uncommon, serious diseases such as West Nile Encephalitis and dengue fever can be spread by mosquito bites in the USA. Our newest worry, Zika virus, is especially dangerous to pregnant women and their unborn babies. Though it’s not yet been spread by mosquitoes in the continental USA, Zika will be here soon. Itchy mosquito bites can be scratched open by children, leading to scabbing, scarring, and the skin infection impetigo. Prevention is the best strategy.

Try to keep your local mosquito population under control by making it more difficult for the insects to breed. Empty any containers of standing water, including tires, empty flowerpots, or birdbaths. Avoid allowing gutters or drainage pipes to hold water. Mosquitoes are “home-bodies”—they don’t typically wander far from their place of birth. So reducing the mosquito population in your own yard can really help.

Biting mosquitoes are most active at dusk, so that’s the most important time to be vigilant with your prevention techniques. Light colored clothing is less attractive to mosquitoes. Though kids won’t want to wear long pants in the summer, keep in mind that skin covered with clothing is protected from biting insects like mosquitoes and ticks. A T-shirt is better than a tank top, and a tank top is better than no shirt at all!

Use a good mosquito repellent. The best-studied and most commonly available active ingredient is DEET. This chemical has been used for decades as an insect repellant and is very safe. Though rare allergies are always possible with any product applied to the skin, almost all children do fine with DEET. Use a concentration of about 10%, which provides effective protection for about two hours. It should be reapplied after swimming. Children who have used DEET (or any other insect repellant) should take a bath or shower at the end of the day.

Other agents that are effective insect repellants are picaridin, oil of lemon eucalyptus, and IR3535 (also known as ethyl butylactylaminopropionate. Tasty!) These are probably not more effective than DEET, but some families prefer them because of their more pleasant smell and feel. Other products, including a variety of botanical ingredients, work for only a very short duration, or not at all. The CDC has extensive info on these products here.

There are also yard sprayers or misters, devices that widely spray repellants or pesticides. I couldn’t find much in the way to independent assessments of these products, but there’s no reason to think they wouldn’t work. Still, I’m leery about the idea of spraying chemicals all over the place, when we know that DEET sprayed on your child is effective and safe for both kid and environment.

About “Organic” or “Natural” insecticides or repellants – those are just  marketing words. In the world of chemistry, the word “organic” means that the molecule contains carbon. Organic compounds are no more or less likely to be dangerous to people or the environment than non-organic compounds; likewise, “natural” in no way implies that something is safe or effective (or even “natural” in the sense that most people mean that term.) These words are tossed around as part of the typical salad of meaningless marketing-speak on labels. Ignore them.

There are also devices that act as traps, using chemicals or gas to attract the mosquitoes from your yard. Although I don’t have much independent confirmation that these work, they are probably environmentally friendly and safe.

Some children do seem more attractive to others to mosquitoes, and some children seem to have more exaggerated local reactions with big itchy warm welts. To minimize the reaction to a mosquito bites, follow these steps:

  1. Give an oral antihisamine like Benadryl, Zyrtec, or Claritin (do NOT use topical Benadryl. It doesn’t work, and can lead to sensitization and bigger reactions.)
  2. Apply a topical steroid, like OTC hydrocortisone 1%. Your doctor can prescribe a stronger steroid if necessary.
  3. Apply ice or a cool wet washcloth.
  4. Reapply insect repellent so he doesn’t get bitten again.
  5. Have a Popsicle
  6. Repeat all summer!

Updated and adapted from a post in 2013

There you will learn from Yoda

Antibiotic overuse: Still a lot of room for improvement

June 22, 2016

The Pediatric Insider

© 2016 Roy Benaroch, MD

We’ve heard it before: antibiotics just don’t work for viral infections. Docs know this, and I think most patients know this, but it’s an addiction we’ve had a hard time shaking.

Docs overprescribe because it’s fast, it’s easy, and it (might) increase patient satisfaction and return visits. That’s led to a cycle of reinforcing expectations from patients – who, after all, keep feeling better after the antibiotics. Of course they do. The minor viral infections that have been treated would have gotten better anyway. Still, it’s hard to shake that impression that it was the drug that made the illness go away. So next time, the patient expects and antibiotic, and doc is even quicker to prescribe it.

What’s the harm? Briefly: we’re encouraging the emergence of super-resistant super-bugs that, to put it bluntly, might just kill us all.

A study from 2015 illustrates some of the craziness and superstition that still guides a whole lot of antibiotic use:

The most-popular, most-prescribed antibiotic in the USA is “azithromycin”, known commonly as Zithromax. This top antibiotic is not recommended, first-line for ANY common infection—it’s not a good choice for ear infections, strep throat, or sinusitis. Not recommended for the top 3 reasons for antibiotic use, yet it’s still the top antibiotic*. Crazy.

Antibiotic prescribing varies tremendously by state. In Alaska, 348 scripts per 1000 patients per year; in Kentucky, it’s about four times that. Do they get four times as many bacterial infections in Kentucky? I don’t think so. Antibiotics, overall, are much more commonly prescribed in the southern states.

Another factor: counties with the most doctors – or the highest “per capita” number of people licensed to prescribe meds – have the highest rate of prescriptions. More docs doesn’t mean more preventive care, more access to good medical information, or better health. It does mean more prescriptions for antibiotics. (Why? I’d guess because it makes a practice more competitive and increases repeat business to write a lot of scripts.)

Current data shows that about 58% of antibiotic prescriptions handed out to human patients are for viral respiratory infections, including common colds or “upper respiratory infections”, viral sore throats, or ordinary “bronchitis”. None of these benefit from antibiotics in any way. Perhaps now’s a good time to revive the “Just say no” campaign.

There is some good news. There’s been about a 25% drop in antibiotic use since the 1990s, and I’m hearing from more and more patients who say right up front “we don’t want an antibiotic if we don’t need it.” That’s a very powerful message, and it’s something you ought to think about saying to your own doctor. You might think we’d only prescribe antibiotics if we genuinely thought they’d help… but the question is, who are they really helping? Probably not you.

*If you’re curious – why is Zithromax so popular, even though it doesn’t work well for any common infection? I think it’s because it can be prescribed with a very quick wave of the hand as a “Z Pak take as directed”. It’s so quick to write! So easy! Other meds need milligrams and instructions and things like “once a day” – who’s got time for that?! It also has a cool name. ZITH. Ro. Max! You may think I’m joking, but I’m not.




Reflux and babies: Ineffective treatment of a non-disease?

June 6, 2016

The Pediatric Insider

© 2016 Roy Benaroch, MD

Heather wrote in:

As a postpartum doula for the last 12 years I have seen something in the last couple of years that I would love your insight on. At least 30-40% of all the babies I care for now have reflux/GERD diagnosed. Roughly 25-30% are on daily meds for this. Parents go to the DR to get some sort of help for fussy babies and take home a prescription for GERD. Reminds me of when my kids were little and we got RX for antibiotics for so many things.

Heather’s right. Reflux (or GERD, gastroesophageal reflux disease) has emerged as a modern boogeyman, blamed for all sorts of symptoms in babies. The bottom line: most babies thought to have GERD don’t have it, and even among babies who do have GERD the medications used to treat it don’t seem to work.

Some background: “gastroesophageal reflux”, abbreviated GER, is the involuntary expulsion of stomach contents up into the esophagus. Stuff comes back up. All babies, and this is no surprise to parents, spit up, and most of them are perfectly happy to do it. Those “happy spitters” are easy to identify – they have no symptoms at all, no fussiness, they’re gaining weight, everyone is comfortable – and there’s really no controversy that these babies with “GER” need no treatment.

But there’s another abbreviation, GERD, for “gastroesophageal reflux DISEASE”, and that’s when things get murky. GERD = GER + D, or reflux that’s causing symptoms or problems. We’ve thought, for instance, that reflux could cause babies to be in pain. That makes sense, because many adults experience heartburn pain when they reflux. Though babies have less stomach acid than adults, they have some, and you’d think at least some of them might develop pain and inflammation in the esophagus from acid splashing up there. There are other symptoms, too, that have been blamed on GERD, like breathing problems or poor growth. And these do happen – GERD is a real thing.

Problem is, when it comes down to objective testing, it’s very difficult to tell whether GER is really causing the D in an individual patient. Yes, Junior is spitting – we can see that, it’s on the floor and all over dad’s shirt. And yes, Junior is fussy. But does one really cause the other? Does treating GER really help the symptoms we’re blaming on the reflux?

A study from the April, 2016 edition of the Journal of Pediatric Gastroenterology and Nutrition tried to help figure this out. They used a state-of-the-art diagnostic tool, a multichannel intraluminal impedance study, on 58 infants suspected of having GERD. Most of these babies had irritability as their main symptom. Of the 58 babies, only 10% ended up having an abnormal study – only 10% actually had reflux. And, among the babies who had episodes of irritability during the study itself, only about 20% had reflux during their symptoms. Reflux, when measured objectively, is uncommon even in babies who have symptoms we think of as reflux-related. And even during the symptoms, reflux usually isn’t occurring.

Do GERD medications, which primarily work by blocking acid secretion, even work in babies? The evidence, as reviewed by Jay Hochman in his pediatric GI blog,  says “no.”

It’s a conundrum. My gut feeling (ha!) is that GERD really does occur in some babies – but not often, and certainly not in most babies evaluated for fussiness. And if there isn’t GERD in the first place, of course the medicines for GERD aren’t going to help. There’s a strong placebo response rate in GERD studies of infants, so maybe to some degree an expectation of relief helps parents deal better with their babies’ fussiness. Or maybe the meds do work in the real cases of GERD, if diagnosed correctly in the first place. It’s just hard to separate all of this out, because the symptoms are so common. And those little babies don’t talk yet, so we don’t really know if they’re in pain, or where the pain is coming from.

Babies with excessive fussiness need a medical evaluation. Some, but not most, will have a specific medical explanation for their crying, and sometimes treatment helps. Many have more of a temperamental or developmental fussiness, and need to be held, and need reassured parents with backup support and a few good nights of rest to catch their breath. Medications aren’t always – or even usually – the answer.

Little. Purple. Different?


Dentists gone wild! Cavities in baby teeth may not need fillings

May 23, 2016

The Pediatric Insider

© 2016 Roy Benaroch, MD

Clara wrote in:

“My six year old has being seeing a dentist for three years, and has never had any problems. At the last visit, his dentist identified three cavities on x-rays, and recommends capping the teeth with stainless steel caps. He’s not having any pain or problems. This seems like a lot of expense and a big deal for baby teeth. Is the dentist just trying to make more money?”

Well, I’m not a dentist, and I haven’t examined your child. But the story does sound fishy to me.

Some background: dental cavities (or “caries”) have become much less common in the developed world, from both improved hygiene and the widespread use of water fluoridation. Not only are cavities relatively rare, but small cavities can often reverse themselves, or at least stay small, with good oral hygiene. It wasn’t like that before fluoridation. Until the 1970’s, once a cavity started, it was going to get bigger and worse. Dentists had to be more aggressive back then.

There are some groups of children who are still at risk for extensive dental disease, and those kids really need more-aggressive care. These include children with poor oral habits (like sleeping with a bottle of milk or a sippy cup of juice), or children with serious developmental challenges that make good hygiene and exams difficult. Some of these kids may have a hard time communicating that their teeth hurt, so we need to be extra careful. Severe crowding or other oral health problems can also contribute to extensive tooth decay.

But most of our children have very few (if any) cavities, and the ones they do get remain small and don’t cause any problems. Small cavities can be safely monitored at dental visits, to make sure they don’t get worse. They don’t need to be filled, and the teeth that get them don’t need to be capped. Junior does need to make sure that she’s brushing well and staying away from soda and sticky candy.

Cavities that are more likely to need fillings or caps are those that continue to grow, especially if they erode near the center of the tooth. Pain or temperature sensitivity can be signs of a significant cavity or other oral problem that needs dental attention. Sometimes, cavities form in a way that weakens the tooth, or might allow decay to spread to other teeth. A dentist can help decide which cavities are the ones to worry about.

I suggest Clara (or any other parent who’s concerned about overly-aggressive recommendations for dental care in baby teeth) seek a second opinion from a qualified, experienced pediatric dentist. Most cavities in baby teeth don’t need intervention, but some do, and you need a good dentist to help figure that out.

Disclaimer: I’m not a dentist, I did write a chapter in a pediatric textbook on dental health, so I’m reasonably tooth-savvy. I also called my kids’ own pediatric dentist this morning to make sure I was giving reasonable advice here. Thanks Dr. Mac, you da best!

Dr Teeth


Toxic mold? No, toxic scam

May 10, 2016

The Pediatric Insider

© 2016 Roy Benaroch, MD

Props to a local reporter here in Atlanta for uncovering quackery – not just quackery, but outright fraud. Randy Travis (not the other Randy Travis) with Fox5 has investigated an unlicensed non-doctor, Michael Pugliese, who operates the National Treatment Centers for Environmental Disease right near my practice in Alpharetta, GA.

Though his victims are told to call him doctor, it’s unclear what (if any) medical training Mr. Pugliese has had. What is clear is that worried people from around the country have gone to his clinics for treatment for all sorts of ailments. After a $3,300 up-front fee, all of them, based on his testing, are told that they’re suffering from the ill-effects of mold. And all of them are sold a variety of supplements and nose-sprays, some of which are made in his laundry room. Adding insult to injury, they’re told to eat canned chicken three times a day. That’s just weird.

Read more details of the investigation here and here.

The whole “toxic mold” thing is another money-draining, predatory quackfest. It’s not clear at all that mold causes any of the neurologic symptoms or other Big Problems it’s being blamed for – but that hasn’t stopped lawyers from suing, and scamsters from setting up fake labs and giving themselves fake credentials.

Mold can be an eyesore, and sometimes makes houses smell musty. Some people are allergic to indoor molds, which can then trigger symptoms like itchy eyes or noses, or worsening asthma symptoms. These symptoms can be prevented and treated by talking with a primary care doc or allergist.

But beware: there are a whole lot of scammers out there looking to take advantage of people. These are people who are hurting, and who have genuine concerns, and they’re looking for answers. It’s sad how many of these alt-health fraudsters are so eager to suck their bank accounts dry, preventing them from getting the real help they need.



Grunting Baby Syndrome – A whole lot of show for very little poop

April 21, 2016

The Pediatric Insider

© 2016 Roy Benaroch, MD

Lemelon wrote in:

“Grunting Baby Syndrome. Is this really a thing? My 6 week old son grunts, strains and writhes from ~approximately 3-6am every night. Most of the time he sleeps through it. My GP suspects reflux but ranitidine has not helped. Also, he’s very happy/calm all day rarely fusses or cries. My google searching came across Grunting Baby Syndrome. Is that a real thing? When do babies grow out of it on average?”

One of the fun things about writing this blog are good questions, or questions about things I had never heard of before. And, yes, Grunting Baby Syndrome is a real “thing”, and something I’ve talked with parents about for years. I’d just never heard this name for it. I think the name is mostly used in the UK (most of the sites I found referring to it come from across the pond), but it seems to be catching on here. Whatever you call it, it’s one of those things that makes sense with a little explanation.

Anyone who’s had a newborn knows that poop doesn’t always come easily. There’s often a big show, with grunting and a red face, and sometimes crying (this is the baby we’re talking about, here. Not dad. I think.) But the poo itself isn’t hard or even firm – it’s normal, ordinary baby poo, soft as applesauce or weird yellow pudding. So why the big show? Why all the grunting?

Two reasons, I think. One is that it’s genuinely difficult to have a bowel movement while lying on your back. Go ahead, try it yourself. We’ll wait here.

See? With nothing to push your feet against, it just doesn’t work. I’ll bet you were pushing and grunting and your face turned red too. Perhaps your behavior was puzzling to your spouse, who chased you out of the bedroom with a broom. You should probably go back and explain, later.

But there’s a second reason for the grunting. Have you ever thought about the steps you’re taking to poop? You need to tighten up your abdominal muscles to push, while simultaneously relaxing your pelvic floor and anus. Tricky! It’s like patting your head while rubbing your stomach – another trick that newborns can’t do well. Tightening one set of muscles while relaxing another isn’t easy. You can tell a baby’s having trouble coordinating this if you pat their bottoms while they’re grunting. Their little buns are squeezed together, all tense. It’s no wonder the poop can’t come out! And it’s no wonder that when it eventually does, it’s a noisy explosion that startles Junior and parents alike.

So: what should parents do? Relax. Don’t get anxious – that will not help your baby get through this. Gently bicycle his little legs, and hold him, and help him relax. When gas passes, and it will, make a little joke. “You sound like Daddy!” would be appropriate, or “Here comes Grandma!” if she’s not in the room. A bad thing to do is to get wrapped up in the drama, and add more worry. If it’s at night, and the grunting is keeping you awake, turn down the baby monitor. The poop will come, I promise.

This isn’t constipation, which requires hard stools. Giving a stool softener won’t work, and neither will changing formulas (though it will get you off the phone with your pediatrician’s office. I probably shouldn’t have told you that.) Rectal stimulation with a thermometer will work, but only in the short run—that won’t help Junior figure this out himself, which is the only long term solution.

If you’re worried that your child just cannot pass stools, talk with your child’s doc. There are some rare conditions that prevent poopage. But the vast majority of grunting, red-faced babies have this “Grunting Baby Syndrome”, which is another thing you don’t have to worry about.

Monica Seles