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8 Most Often Missed Medical Problems in Kids



Ailing babies can't tell you where it hurts, when it started, what would make them feel better, or what makes them feel worse. In short, a sick baby is a blank slate for diagnosis. And getting the diagnosis wrong — missing a possibly serious condition, or treating it improperly — is potentially more dangerous for little patients than it is for older kids.

Even garden-variety childhood illnesses, the kind pediatricians see every day, often manifest themselves very differently in babies than in older kids. Parents may not know that their 6-month-old has the same strep infection their 6-year-old had last week — the symptoms are so different. Below are some of the most common, and commonly missed, medical conditions that affect children under age 2, and how to make sure you and your doctor get the diagnosis right.

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1. TORTICOLLIS

I was a very ugly baby. "Bald, bumps, and a misshapen head," my mom often says, shaking her head over old photo albums. The baldness and the bumps went away; the slightly misshapen head (now hidden by hair, thank goodness) remains. Turns out I had torticollis, a shortening of the neck muscle that causes a baby's head to tilt. Like many babies who have this trait, I slept in one position to accommodate my stiff neck, so my head grew slightly flat on one side — a condition known as plagiocephaly.

Torticollis can be present at birth, or it can gradually develop if a baby consistently sleeps in the same position with her head lolling to one side. In fact, the number of cases has risen since 1992, when the American Academy of Pediatrics (AAP) began its lifesaving campaign to prevent Sudden Infant Death Syndrome by having babies sleep on their backs. Eventually, the neck muscles shorten and the baby develops a distinctive head tilt; parents and doctors may not notice until the tilt (or the plagiocephaly that often results) is dramatic.

When Jennifer Wolff's daughter, Zöe, was born, Wolff, a writer in New York City, knew right away that "something was wrong with her neck," she says; however, the pediatrician at the hospital assured her that "babies take a while to straighten out." But by her 6-week checkup, Zöe's symptoms were unmistakable. "Her head tilted down and to the right, her chin tilted up and to the left, and the left side of her face was bigger and more developed," Wolff says. "One of her eyes was even closed."

Zöe's torticollis, though severe, was noticed early and corrected successfully with physical and occupational therapy — but even a mild case (like mine) can cause serious problems if not addressed. Plagiocephaly, if extreme, may require a helmet to correct the head shape. Left untreated, torticollis can worsen; eventually, surgery may be required. "Vision problems, jaw malformation, facial asymmetries that can lead to speech and feeding issues, and difficulties with gross and fine motor sensory development can all result if it isn't treated," says Lucia Boletti, O.T.R., occupational therapist and supervisor of pediatric rehabilitation at New York-Presbyterian/Weill Cornell Hospital.

She advises parents who suspect that their baby has the condition to be aggressive and persistent with their child's doctor. She says, "It's important for parents to realize that torticollis doesn't 'fix' itself."

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2. STREP THROAT

Walk into a pediatrician's office with a feverish schoolkid who says his throat hurts, and chances are the doctor will order a strep test, stat. Walk in with a feverish baby — even one whose throat looks red — and the doc will probably diagnose the baby with something else.

Strep throat and the more unusual scarlet fever are much rarer in babies under 2. But they do occur. If strep isn't caught promptly and treated with antibiotics, the complications can be serious. "Later on there can be rheumatic fever, damage to the heart, or serious joint pain," says Elizabeth Klements, a nurse specialist at Children's Hospital Boston. If your baby has a fever and a red throat (which are symptoms of many, many other diseases as well), it might be worth requesting a throat swab just to make sure.

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3. TYPE 1 DIABETES

You probably know that there are two kinds of diabetes — type 2, which usually occurs in adults and is related to family history and obesity, and type 1, formerly called juvenile diabetes. What's less commonly realized is that type 1 is one of the most common chronic illnesses among children, and it can even be diagnosed in babies as young as 6 months old.

The problem is, the early warning signs for type 1 diabetes — subtle and confusing in older children, and vexingly so in babies and toddlers — can mimic the symptoms of a mild illness, the "flu," or even look like side effects of normal development. So even though more than 15,000 kids under the age of 20 in the United States are diagnosed every year, the disease can be tricky to spot. It's easy to miss increased thirst in a breast- or bottle-fed baby, and more-frequent urination can go unnoticed with diapers. And show us a baby or toddler who isn't often tired.

Increased appetite might be written off as a perfectly normal growth spurt, and your infant won't be able to tell you if her eyesight suddenly becomes blurry. As for fruity-smelling breath — don't all babies smell sweet?

The serious signs (labored breathing, stupor, and, finally, unconsciousness) would prompt any parent to rush to the doctor — but what if the doc doesn't think "diabetes"?

"Fact is, the sequence of events that indicates diabetes — lethargy, dehydration, vomiting, weight loss — is indistinguishable from that of a child very sick with, say, pneumonia or gastroenteritis," says Paul Strumph, M.D., chief medical officer for the Juvenile Diabetes Research Foundation. "Unless tests for urine- or blood-sugar levels are performed, the disease can be missed." And here's where it gets really scary: By the time serious symptoms show up — like severe dehydration — "you have only hours to days to reach a correct diagnosis, or your child could require treatment in an intensive care unit," he says.

It thus pays to keep an eye out for those relatively mild early symptoms, including previously "dry" at night children who begin wetting the bed, and if you suspect there's any chance your baby might be diabetic, request that a blood-sugar or urine-sugar test be performed. Given that type 1 diabetes can affect any child — most of the time, no known relative has the disease — merely asking for a blood test is a kind of public service. Even if your baby's fine, you might inspire your doctor to look for, and catch, diabetes early in a future patient.

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4. HEAD INJURIES

One evening when my son, Zander, was nearly 2, he wriggled free after his bath, ran into the living room, and slipped, hitting the wood floor sideways. It was a spectacular wipeout, but nothing worse than I'd seen dozens of times before. Actually, I wasn't even worried — until he started throwing up.

We raced to the ER, where I was told to spend the night waking Zander every 2 hours to see whether he was "difficult to rouse" (who isn't at 4 in the morning?). Oh, and if he were to have a seizure, I should bring him back. "Isn't there something between 'fine' and 'seizure' that I should look for?" I asked the nurse who discharged us. She shook her head. By morning I was a wreck; Zander, however, was fine.

Later, though, I wondered: What if I hadn't seen him fall? What if my son were the type of kid who threw up a lot and his bedtime episode seemed routine? Scariest of all, what if the ER evaluation (which was cursory — a flashlight shined into his eyes, palpitation of his skull, and a few questions for me) had missed a more serious, even potentially fatal, head injury? Shouldn't I have insisted on a CAT scan — better safe than sorry — before leaving the hospital?

Mark Proctor, M.D., a pediatric neurosurgeon at Children's Hospital Boston, assuaged my fears. "Not every fall merits a CAT scan. The decision should be left to the physician. Scans expose your child's brain to radioactivity, which is something you want to avoid if you can," he says. For most minor head trauma, your physician might decide that watching your kid carefully for 8 to 12 hours after the fall should be enough. "You want to be on the lookout for lethargy, vomiting, changes in the pupils, and whether or not your kid continues to move normally," Dr. Proctor says. And pay attention to the accident itself. "Certain types of falls — from a height greater than 3 or 4 feet, or if the body or head rotates on the way down instead of just hitting straight, are usually worse," he adds.

With very small kids who can't tell you if they feel woozy, a parent's intuition can be a useful diagnostic tool. "It can be really hard to spot infant and toddler concussions — the normal signs, like confusion, sensitivity to light, being more emotional, and finding it difficult to concentrate — are hard to detect," Dr. Proctor says. "So a parent who says, 'My kid fell and he's just not himself,' should be taken very seriously."

5. EPILEPSY

Epilepsy is a neurological disorder that causes seizures. However, babies can have seizures for many reasons that aren't epilepsy: a high fever, for instance, or low blood sugar. A single seizure without any discernible cause is not enough to merit an epilepsy diagnosis; the doctor will want to know if there's a pattern. But because epileptic seizures are often extremely subtle, it's sometimes difficult to identify even one.

A grand mal, or tonic clonic, seizure is hard to miss; so is a "drop attack," in which every muscle goes limp and the patient falls to the floor. "However, a common type in very young kids usually involves staring," Dr. Proctor says, which can look like simple zoning out. How to tell the difference? "If your baby is staring into the distance and you're able to distract him — by calling his name or making a sound — then it's just normal spaciness," Dr. Proctor says. If you can't snap him out of it, a neurological workup may be in order.

If you have the opportunity, try to catch the behavior on camera and bring the video to your child's doctor's appointment. Your child most likely won't conveniently have a seizure in the neurologist's office, and it would be helpful if he could see the behavior. "The camera is an objective witness, more so than a worried parent — we can learn a lot from even a very short video taken with a cellphone," Dr. Proctor says.

6. HEARING LOSS/POOR VISION

At her daughter Simone's 5-month checkup, Alexa Stevenson was asked by her pediatrician, "So, does she respond to her name?" Stevenson, who thought she did, called Simone several times to no avail — "at which point there was this scene straight out of The Miracle Worker, with everyone clapping hands and ringing bells while Simone just sat there oblivious," she says.

One to three infants in every thousand are born with significant hearing loss, according to the AAP; many states require hearing tests before discharging newborns from the hospital, since poor hearing can severely inhibit a baby's cognitive development. But even infants who are fine at birth can suffer hearing loss later as the result of complications from ear infections. (This is why your doc insists you bring your baby back to have her ears rechecked after every infection — if there's fluid in her ears, her hearing might be affected, and it could be months before anyone notices.)

Follow-up tests revealed that Simone's hearing was, in fact, fine — however, it turned out that her eyesight wasn't. "She's severely farsighted, which I never would have known," Stevenson says. "Little quirks I'd assumed were just part of who she was — she wasn't interested in the TV when it was on, and she never got into picture books — turned out to be because she couldn't really see. The day she got her glasses at 15 months old, she was mesmerized by the television and fascinated by books. I felt incredibly guilty for not picking up on it."

She shouldn't. Although pediatricians or family doctors will examine a baby's eyes to look for congenital defects such as cataracts, in general, the first time a child's vision is screened is when she starts school. "If you notice your kid tends to hold books very close or squints; or if your baby looks cross-eyed, favors one ear, tends not to respond to noises, or seems to tilt his head to see or hear better, then get his vision and hearing checked," says Robert Langan, M.D., program director of St. Luke's Family Medicine Residency program in Bethlehem, Pennsylvania.

7. GERD or REFLUX

Reflux (a.k.a. spitting up) is so common in the early months of life that it's considered completely normal. (Just ask the bib and burp-pad industry!) Even spitting up that's accompanied by apparent stomach pain and inconsolable screaming may be written off as the benign-sounding colic — and, as Dave Barry once brilliantly wrote, your pediatrician will insist colic is nothing to worry about, "which is of course absolutely true from his perspective, since he lives in a colic-free home many miles from your baby."

A diagnosis of colic, however, can mask GERD, or gastroesophageal reflux disease, which occurs when the lower esophageal sphincter (the muscular valve between the esophagus and stomach) opens at the wrong time or does not close properly and allows food — and digestive acid — to move upward into the esophagus. As anyone who has had heartburn can attest, reflux is painful (hence the "colicky" crying). Though parents may feel silly fretting about a wee bit of spit-up, a baby who vomits too much can have trouble getting the calories and nutrients necessary to maintain a healthy body weight, not to mention proper growth and development. Spit-up milk can be aspirated, which leads to breathing problems (reflux is thought to be a trigger for asthma). Over time, the constant presence of stomach acid in the esophagus can result in ulcers (ouch!) and even permanent scarring.

GERD can often easily be managed (mild cases may require only changes in feeding or behavior — such as thickening the baby's formula or elevating the head of his or her bed slightly). For toddlers, eating smaller, more frequent meals and avoiding acid-producing foods such as tomatoes can help. If these simple changes don't control the condition, other medications may help.

The bottom line? If you suspect your baby's "colic" is something more, speak up. Reflux is painful — and easily treated.

8. PERTUSSIS, or WHOOPING COUGH

Reported cases of pertussis have risen in the U.S. in the last 33 years, despite routine vaccination. Most new cases occur in adolescents or adults whose protection from their childhood shots has worn off, and for them, it's rarely serious. But they can pass it to babies, who don't receive their first pertussis vaccine until they're 2 months old. And for babies, the condition can be fatal. From 2004 to 2006, there were 82 reported deaths in the U.S., and 84 percent of them were children less than 3 months old. It's what doctors call a "must not miss" diagnosis that can, unfortunately, be easy to miss.

Pertussis is a bacterial illness spread the way colds are, through the air when an infected person coughs or sneezes. In fact, the first symptoms (which occur about a week after exposure) often resemble a common cold. One to two weeks later, the dreadful coughing begins.

Kids with pertussis cough so hard they often vomit, and this, along with the characteristic "whoop" (a desperate gasp for air at the end of a coughing fit), should make diagnosis a snap. (It's called whooping cough, for crying out loud!) But the "whoop" is rare in babies under 6 months, which means that an infant with pertussis looks an awful lot like an infant with pneumonia. Or asthma. Or croup, or a viral upper-respiratory infection.

Teenagers and adults with pertussis don't "whoop" either, and between coughing fits, they may exhibit no symptoms at all. This makes it difficult to know whether a baby has been exposed. Babies with pertussis might not even cough at all — though they may vomit, turn blue, or wheeze — any of which is enough to send most parents running to the doctor, if not the ER. But unless there's a local outbreak, whooping cough might not be on anyone's radar, and the baby might be sent home with a different diagnosis.

"The best way to protect a baby from pertussis is for the parents and caregivers to get a booster immunization," Dr. Langan says.

In the end, no doctor — no matter how attentive — knows your child as well as you do, but a good one will pay close attention to any feelings you have that something is not quite right. "If a parent tells me her child just seems 'different' — he's not eating or drinking, or he's simply acting miserable — I take it very seriously," Dr. Langan says. "That 'different' feeling may be our only clue that a baby is really sick."


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