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Advances in genetic testing result in more effective diagnoses

By Bruce Korf, M.D., Ph.D.
UAB Professor and Chair, Department of Genetics

Dr. Bruce Korf

Dr. Bruce Korf

Birmingham pediatricians now have expanded options for easily accessing genetic expertise and testing, with the recent opening of a genetics clinic at Children’s of Alabama.

For physicians, it’s important to consider when to refer a patient for genetic evaluation, especially for those patients who were unsuccessfully evaluated in the past.

Most pediatricians have experience in recognizing children with congenital malformations, intellectual disability or developmental delay that may have a genetic component. When those patients receive a diagnosis, parents have at least a minimum understanding of what is happening with their child, how best to manage that child, and whether it may occur in their other children.

Unfortunately, in the past a large percentage of patients went undiagnosed, even with an evaluation, putting the parents of young children on a seemingly endless quest to decide how best to manage their child’s medical conditions.

A great deal has changed relatively recently, however, and new tools, including microarray and genome sequencing, are available, which means we have the ability to achieve diagnoses that were not available to us before. So if you have been following a patient with medical issues that you suspect are genetic in origin, and that patient has not had genomic sequencing, it is likely time to refer them to a clinic for retesting.

One of the new tools available to us is microarray testing, which gives us the ability to make a definitive diagnosis at much higher rates than we could expect just a few years ago. Older tools would enable us to see the big picture, much like a satellite picture of the earth. Today’s tools are more like the Google Earth app, allowing us to zoom down to street level, so we can see detail on the genome that was previously impossible.

Genome sequencing is another tool that has improved our ability to diagnose. The cost for the test is dropping dramatically. Once costing $100 million per run, the test and analysis are now in the $6,000 to $7,000 range. While that is still a lot of money, compared to the cost of other medical tests it is actually fairly reasonable.

Microarray can be expected to pick up the genetic cause of 15 to 20 percent of autism spectrum disorder cases. Genome sequencing can pinpoint a diagnosis in about 30 percent of cases of children with intellectual disability, autism spectrum disorder, or congenital anomalies. Putting the two tests together means we can expect a definitive diagnosis in 50 percent of the cases presented to us. Considering that even five years ago we could only expect to diagnose about 5 percent, that’s a tremendous step forward in a very short time.

At one time, a genetic diagnosis relied on the physician’s ability to predetermine the underlying problem in order to test for that particular disorder. Today, we are able to diagnose based on the tests, even finding conditions so rare that no physician would have considered testing for them in the past.

And when a diagnosis still eludes us initially, we can now share results and experience with other geneticists around the world, enabling us to establish a diagnosis we may not have been able to make alone.

In short, the tools we have at our disposal now have never been more powerful, so if you are a pediatrician following a patient and have been unsuccessful getting a diagnosis in the past, it is worth taking a second look now.

Of course, putting a name to a disorder is only part of the battle. The next step is knowing how to treat a patient’s condition, and we have made progress in that area as well. Certainly, we can’t say we are able to treat every condition we see, but once we figure out which gene underlies the condition, we then begin to ask why the change in the gene causes the problems it does. And we are gradually figuring that out and identifying drugs that improve quality of life.

With such dramatic and rapid developments in the field of genetics, there are many implications to be considered as we move forward. There is increasing discussion that perhaps everyone should have their genome sequenced, as the cost goes down and the feasibility of the testing goes up. This emerging area will have to be addressed carefully. Between 1 to 3 percent of people whose genes are sequenced will discover a condition they did not realize they had or were at risk for, and virtually everyone can learn how their body manages specific medications or can become aware of risk factors for common diseases. But there are also questions about what options exist to manage these risks once they are known. We will have to proceed carefully in light of our increasing technological abilities.

For patients with known medical problems that can be addressed with genetic evaluation, however, there are ample reasons to make referrals and try to determine a diagnosis that can improve quality of life for the patient and their family.

We have a new clinic integrated into Children’s, with access to parking and other specialists, making genetic evaluation more convenient for parents than ever before. In addition to our Children’s clinic, we have a prenatal diagnosis program through ob/gyn and maternal fetal medicine at UAB, and our newest clinic at Kirklin Clinic for adults.

If you have questions about referring a patient to one of our Birmingham area clinics, please call (205) 934-4983 to discuss.

 

Holiday Nutrition

One of life’s enjoyments during the holiday season is all of the delicious treats and special meals we can enjoy, so it’s no wonder the holidays are never an ideal time to diet.

Rainie Carter is a Clinical Nutritionist at Children’s of Alabama. She says it’s best for parents to focus on weight management and healthy choices for their children and themselves during the holidays. “It’s easy to add five extra pounds of weight during the holiday season. But the concern is that over the holidays, from October through January, we can put on five pounds of fat, but keep in mind it can take five months to lose it!” She says that can add up. “If you don’t lose it, you are ultimately adding 10 pounds in two years, 15 pounds in three years of holiday eating,” she says.

One tip she offers is to use smaller plates. She serves her meals on salad plates instead of dinner plates. “The difference is huge portion sizes. If you add the same amount of food portions to a dinner plate versus a salad plate, the larger plate doesn’t look as filling so you end up adding more or going back for seconds,” she says. “You need to trick your brain into being fuller by putting it on a smaller plate.”

Carter says it’s not necessary to deprive children treats during the holidays. But if you do indulge, be sure to pay attention to portion sizes. “Just think portion control,” she says. “Be sure to look at the ingredients, including calories, grams of fat and sugar and stick to portions rather than overeating.” She also recommends children stay full on healthy food so they don’t get as many sugar cravings.

Carter says a lot of holiday treats can be made using healthy substitutions like apple sauce and pumpkin instead of oils and fats. But if a true dessert is on the menu, a good rule of thumb is to consider portions again. A fist or palm of the hand is a good guide for a single portion.

The main goal during the holidays is weight maintenance. Children and adults can enjoy a few holiday indulgences without compromising their weight or overall health.

Cold or Flu?

The fall and winter months are cold and flu season. Many children develop sore throats, a cough and sometimes a fever. So how can parents determine if that illness is just a cold or the flu? Both the cold and the flu can present similar symptoms, including cough, congestion and runny nose.

Dr. Lisa Venable, a pediatrician at Midtown Pediatrics, offers these tips. “In general, the flu hits a lot harder than a cold does, and a lot quicker,” she says. “You can have a high fever, fatigue and body aches and feel very, very tired.”

SIGNS OF THE FLU

  • Comes on faster and harder
  • High fever
  • Fatigue
  • Body Aches

Dr. Venable says now is the time to consider a flu shot. The American Academy of Pediatrics (AAP) recommends the flu shot for everyone over 6 months old. Flu shots can still be administered all the way through the end of the flu season in February or March.

In the event a child does get sick, there are things parents can do to help mitigate symptoms. “Make sure your child is drinking plenty of fluids,” Dr. Venable says. “You can give Tylenol or Motrin if they have a fever. And make sure they are getting plenty of rest.”

TREATMENT

  • Fluids
  • Rest
  • Tylenol or Motrin for fever

Dr. Venable advises parents to bring their child to the doctor if they’re concerned, however, she says it’s not necessary to see the pediatrician for a cold. Most of the time parents can care for their children with plenty of rest, fluids and extra comfort.

 

Talking to Children about Current Events

In this day and age, children are exposed to violent and disturbing topics on the news. Reports on natural disasters, shootings and terrorist attacks can be confusing to a child, teaching them to view the world as a scary place. But there are benefits in raising children who are aware of what’s going on in the world.

Dr. Dan Marullo is a Pediatric Psychologist at Children’s of Alabama. He says whether parents should share current events with their child depends on the age and developmental level of the child.

“It definitely depends on the age of the child,”Dr. Marullo says.”Kids of different ages have different needs and different developmental levels. I think regardless of the age of the child, one thing to keep in mind is children learn how to cope with adversity by watching their parents.”

Dr. Marullo says the first thing for any parent to do is to check how they’re coping with the news or what’s going on around them. Parents should keep things in perspective and help children to understand that television has a way of shrinking the world and bringing it into our living rooms. A child watching a news story about an earthquake in California may lose sleep thinking the same thing could happen in Alabama.

Dr. Marullo says younger children, toddlers and preschoolers probably don’t need to see a lot of the bad things on television. “They would have a very hard time managing that so minimizing exposure would be important,”he says.

For school age children, the approach should be different. “For older children, they’re probably going to come across media on their own,”Dr. Marullo says. “It’s important for parents to have a dialogue with their child. Watch the media with them, watch the news with them. It certainly makes a great topic of conversation for dinner time. That way parents can monitor their child’s exposure but also answer their questions and model their own behavior.”

For parents of school age children, keep in mind a little exposure to adversity is beneficial. “The way we learn to deal with adversity is by experiencing adversity,”Dr. Marullo says. “That doesn’t mean we expose our children to everything, but a little exposure with good guidance from a parent is crucial for their healthy development.”

Parents may also want to talk to their child about what can be done to help in a tragic event. Children may gain a sense of control and feel more secure when they think of ways they can help those affected by the tragedy.

If a child seems overly anxious, parents should encourage a break from television. Read, play board games or go outside. Look for opportunities to bond as a family and put things in perspective.

Preparing your child for surgery

Surgery is never fun, but it’s even more intimidating when it involves your child. So how can you prepare your child when they are about to have surgery?  Good preparation can actually help children feel less anxious about the procedure and get through recovery faster.

Danelle Paz is a Nurse Anesthetist at Children’s South.  She says first and foremost it’s important for parents to be honest with their children. “They’re not going to Disney World,” Paz says. “That’s the most important thing, is to help them understand they’re having surgery and to be honest when questions are asked.”

The key is to provide information at your child’s level of understanding, correct any misunderstandings and help eliminate any fears. Help your child understand why surgery is needed.

In terms of preparations, Paz says it’s very important that parents follow instructions given by their doctor. This may involve taking a bath the night before as well as special instructions about when to cease food and drink.

Having the procedure at a pediatric facility like Children’s South ensures that all aspects are catered to the comfort and unique needs of the child.

“When it’s your child, you want your child to be taken care of like it’s their child and that’s what we do here,” Paz says.  “We’re all pediatric trained physicians, nurses and child life specialists and your child and family are truly our focus.”

Special attention is given at a pediatric facility to take a “pain free” approach prior to surgery.  At Children’s no shots are given while the child is awake. Instead, the child is put to sleep with a mask.

After surgery, the doctors will be very attentive to care for the child and give pain medicine as needed.  During recovery, there may be times of discomfort for your child.  Parents should explain that even if this happens they will get better.

Parents can do their part to make recovery more pleasant with a new book, toy, or a visit from a friend or relative.  Just make sure the child gets plenty of rest to recuperate.

Moms and dads can be assured their child will be in good hands with a pediatric staff to care for them and help them through this challenging time.

Back to School Safety 101

From incoming kindergartners to graduating seniors, back to school is an exciting time. As children prepare to meet their new teachers and reunite with classmates, here are a few tips to help them return to the classroom. 

Backpacks

An essential accessory for students of all ages is a backpack. More important than a backpack with trendy designs and favorite cartoon characters is one with a good fit, said Karen Cochrane, Children’s of Alabama patient health and safety information educator. Select a backpack that is lightweight when it is empty. “It will only get heavier – and harder for a child to carry – when it is full of textbooks, notebooks and binders,” Cochrane said. A general rule is that the child shouldn’t carry more than 10 to 15 percent of his body weight.

Cochrane recommends a backpack with features such as:

  • multiple compartments to distribute the weight of backpack contents
  • compression straps to cinch up the sides of the backpack, bringing the weight closer to the body
  • two padded shoulder straps to evenly distribute the bag’s weight; wider straps are preferred over narrow straps that can dig into the shoulders
  • waist straps to bring the backpack’s weight closer to the body
  • cushioned back panel that makes the bag more comfortable to wear and also keeps pencils and other sharp objects from poking through

Parents should be prepared to buy a bigger backpack as their students get older to ensure they are using an appropriate size, Cochrane said. The load will get heavier as well. Elementary students may only carry their backpacks to and from school, while middle and high schoolers will carry their backpacks throughout the day, full of books, to different classrooms.

School Buses

Before the first day of school, particularly for first-time bus riders, parents should walk with their students to the bus stop to review safety procedures. Cochrane shared these suggestions:

  • Wait for the bus on the sidewalk, at least six feet from the curb.
  • Line up and wait until the bus driver gives the OK before boarding the school bus.
  • Sit quietly on the bus to keep from distracting the bus driver.
  • Never walk behind the bus.

If children need to cross the street once they get off the bus, they should do so in front of the bus, Cochrane said. Then they should take five giant steps (about 10 feet) in front of the bus and make eye contact with the driver before crossing in front of the bus.

“If a child drops something while crossing in front of the bus, don’t pick it up right away. Make eye contact again, and tell the driver right away,” Cochrane said.

And for those of us driving cars, be alert once school is in session. “As you approach a school bus stop, even if you don’t see the bus, assume that children are around,” Cochrane said. If lights on the bus are flashing, be prepared to stop.

Home Alone After School

Some children may come home to an empty house after school. Alabama doesn’t have a law that sets an age when children can be left home unattended. “Even without a law in place, it’s more important that parents ask themselves if their child is ready,” Cochrane said. Consider:

  • the child’s maturity level
  • a record of responsible behavior
  • physical ability to provide care
  • good decision-making abilities
  • how the child responds to stressful situations
  • how comfortable the child is being home alone

“Take the time to talk to your child, discuss the house rules and set the expectations,” Cochrane said. “Another way to prepare with your child is to role play likely situations they could face while home alone: What would you do if ‘this’ happened?” she said.

Parents should specify exactly what the child is allowed to do in the home after school, such as watch television, use kitchen appliances, have friends over, or do chores. But even with rules in place, Cochrane advises that the time when children are home alone should be within limits. “Don’t overdo it,” she said. “Even the most responsible child shouldn’t be left home alone too frequently.”

Avoiding Germs

With a classroom full of students, there will be germs. Washing hands and covering coughs and sneezes are two ways to keep germs from spreading. “If your child is sick, it’s better they stay home,” Cochrane said. “If you’re sick and keep pushing through, you’ll never get better, and the same applies for our children.” And chances are, if your child is attending school when they aren’t feeling 100 percent, they aren’t able to give 100 percent in the classroom.

Establishing Back to School Routines

Summer may be a time when rules are bit more relaxed, and bedtime is later than it is during the school year. But it’s not too soon to resume some school year routines, Cochrane said.

  • Make sure your child is getting enough sleep.
  • Serve a healthy breakfast.
  • Write down ‘need to know’ information: locker combinations, class schedules, teacher names.
  • Organize the night before (pick out clothes, pack a lunch, etc.) so that the morning isn’t rushed.

A few simple changes now could lead to a smoother transition when school is back in full swing.

Sunscreen

Children and adults are prone to get sunburned, especially during our hot Alabama summers.  In fact sunburn can happen after only 15 minutes in the sun.  But sunburn can be dangerous and repeated sunburns can lead to skin cancer.

So what should parents know about sunscreen in order to keep their children and themselves safe?

Ashley Hanna is a nurse practitioner in pediatric dermatology at Children’s South.

She explains what parents should look for when buying sunscreen.  “We do recommend an SPF of 30 or greater in sunscreen,” she says. “It’s also important to look on the ingredient label for titanium dioxide or zinc oxide to be listed in the ingredients.”

Hanna says children should wear sunscreen from the time they are six months old.  Before then, a baby’s skin is too sensitive and it’s best to keep them completely covered with cool clothing and a wide-brimmedhat, or out of the sun altogether.

For all other ages, remember sunscreen is only effective when it’s used correctly.

How to Use Sunscreen

  • Apply sunscreen whenever your kids will be in the sun. For best results, apply sunscreen about 15 to 30 minutes before kids go outside.
  • Don’t forget about ears, hands, feet, shoulders, and behind the neck. Protect lips with an SPF 30 lip balm.
  • Apply sunscreen generously.
  • Reapply sunscreen often, about every 2 hours. Reapply after a child has been sweating or swimming.
  • Apply a water-resistant sunscreen if kids will be around water or swimming. Regardless of the water-resistant label, be sure to reapply sunscreen when kids come out of the water.
  • Throw out any sunscreen that is past its expiration date or that you have had for 3 years or longer.

Hanna says if your child does get sunburned, there are things you can do to help make them more comfortable.  “If your child does get sunburned,” she says, “make sure they stay hydrated, apply moisturizer and you can give them ibuprofen or acetaminophen.”

But watch their symptoms closely.  If there’s any sign of blistering or dehydration, you should call the doctor immediately.  And remember, repeated sunburns lead to skin cancer.  Unprotected sun exposure is even more dangerous for children who have many moles or freckles, have very fair skin and hair, or have a family history of skin cancer.

It’s important for parents to be a good role model by consistently wearing sunscreen and limiting sun exposure. Lead by example to teach children to be sun smart.

Summer is snakebite season: How to keep your child safe

Now that warm weather is here, your children are probably spending more time outside. Can you guess what else may be planning to join them? 

“When temperatures are consistently above 34 degrees at night and consistently above 64 degrees during the day, that’s when we start to see more and more snakes,” said Ann Slattery, managing director of the Regional Poison Control Center at Children’s of Alabama. For central Alabama, ‘snake season’ typically runs March through November.

And when there are snakes, there are also snakebites. “We get 150 to 200 snakebite calls per year at Poison Center,” Slattery said.

There are six poisonous snakes that are native to Alabama, five of which are known as pit vipers. Some of the most well known pit vipers are rattlesnakes, water moccasins/cottonmouths and copperheads.

“All snakebites should be seen in a healthcare setting, preferably in an emergency department,” Slattery said. Seeking medical attention for a snakebite is important whether the bite is two punctures, one puncture or even just a scratch, she said.

If your child is bitten by a snake, Slattery has some recommendations. First of all, she said, it is important to remain calm. If the child is having difficulty breathing, parents or caregivers should call 911 immediately. Otherwise, she said, get the child to an emergency department quickly. Do not apply ice or a tourniquet. Remove any restrictive clothing or items like rings, bracelets and watches before swelling sets in. Keep the limb slightly below the child’s heart.

In the emergency department, doctors will treat the wound as well as any exposure to tetanus and bacteria. They will assess for pain and swelling. There is an antivenin for symptomatic patients after a pit viper bite that is administered through an I.V. Patients may be kept in the hospital overnight for observation.

Slattery said here’s one thing you definitely don’t need to bring with you to the hospital, and that’s the snake. “We do not encourage people to capture the snake that bit the child. Doctors will look at the child’s symptoms, not the type of snake. The current antivenin for pit vipers that’s available will treat any kind of pit viper bite,” she said.

The best way to avoid snakebites is to avoid the type of areas where snakes may be lurking. These include tall grasses, dense gardens, and piles of leaves and yard debris. “Always be aware of your surroundings outdoors,” Slattery said. And, remember, snakes are typically afraid of humans and are trying to hide from potential predators. “If a snake bites, it is trying to scare us away.”

Choosing an Insect Repellent

insect-repellantMosquitoes are a concern any summer, but this summer in particular, the focus is on protecting against mosquitoes that carry the Zika virus.

The Zika virus is transmitted to people by a mosquito bite from an infected Aedesspecies mosquito. The Aedesmosquito is an aggressive daytime biter, but it also bites at night.The Zika virus can cause symptoms such as fever, rash, joint pain, and conjunctivitis (pink eye) lasting several days to weeks.

Insect repellents can help protect against mosquito bites. Ann Slattery, managing director of the Regional Poison Control Center at Children’s of Alabama, offers some tips on safelyapplying insect repellent:

  • Do not allow young children to apply insect repellent themselves.
  • Do not apply to young children’s hands or around eyes and mouth. Adults should spray the repellent into hands and then apply on child’s face.
  • Cover up with long pants and long sleeves when possible, especially if you need protection form both sun and mosquitoes.
  • Spray the outside of your child’s clothes, including hats, with insect repellent.
  • Wash your hands after applying repellent. Wash repellent-coated skin at the end of the day.

Types of Insect Repellent
Two commonly used repellents are DEET(chemical name: N,N-diethyl-meta-toluamide) and picaridin. DEET is considered the “gold standard” for repelling mosquitoes, and both products have been deemed safe for use on children two months of age and older.

Read the product label to determine the concentration of DEET or picaridin.Higher concentrations mean longer periods that the product will offer protection.With either ingredient, choose the lowest concentration that will provide the required length of coverage.

A concentration of 10 percent to 30 percent DEET is recommended for children. For example, 10 percent DEET product provides protection for about two hours, and 30 percent DEET protects for about five hours.Products containinga picaridinconcentration of 20 percent protect up to seven hours against mosquitoes.

Slattery said she does not recommend products that are a combination of sunscreen and insect repellent. “Sunscreen needs to be reapplied based on the SPF, but too much insect repellent could lead to toxicity,” she said.

Preventing Repellent Poisoning
If your child experiences any skin redness or irritation from an insect repellent, immediately wash the skin with mild soap and water. If there is a more serious reaction, including welts or a sever rash, contact his or her pediatrician.

If the repellent gets in your child’s eye, irrigate the eye with water for about 10 to 15 minutes. “Bring the child to a faucet and position him so that the spigot is over the bridge of the nose and the affected eye is closest to the drain. Have the child blink occasionally while the water is running over the eye,” Slattery said. The eye may look puffy initially after flushing, because water does not have the same composition as our natural tears. Then place a cool compress over the eye for about 30 minutes.

If any repellent gets in to your child’s mouth, have him rinse it out with about an ounce of water. After any exposure, Slattery said parents should call Poison Control at 1-800-222-1222 with any questions or concerns.

Swimmer’s Ear

Swimmer’s ear is common during the summer months when children are more likely to swim in the pool, lake or ocean. But you don’t have to swim to get swimmer’s ear. The infection is caused by too much moisture in the ear which can allow bacteria or fungi to grow.

Swimmer’s ear or otitis externa (outer ear infection) is not to be confused with a regular (middle) ear infection.  Dr. Joe Jolly, a pediatrician at Greenvale Pediatrics in Alabaster explains, “Swimmer’s ear takes place in the outside of the ear in the ear canal itself, whereas an ear infection occurs behind the ear drum.”

Dr. Jolly says it’s easy for parents to identify whether their child has swimmer’s ear or a regular ear infection. When a child has swimmer’s ear, the outside of their ear is a lot more painful, especially when pulled or pressed upon. Symptoms include:

Symptoms of swimmer’s ear

Pain on the outside of the ear

Swelling which causes child to feel like ear is “full”

Discharge

Redness

There are ways to prevent swimmer’s ear without having to give up swimming.

Prevention of swimmer’s ear

Make sure ears are thoroughly dry after swimming

Consider using over the counter drying drops (though not for children who have ear tubes or a hole in the ear drum).

Dr. Jolly says drying the ears thoroughly is especially important when a child has been swimming in a natural water source such as a lake or river where bacteria are more likely to be found. And as much as parents may be tempted to use cotton swabs to clean a child’s ear, Dr. Jolly says using swabs can do more harm than good. Having wax in the ear offers a natural protective shield to bacteria.

If you think your child might have Swimmer’s ear, it’s extremely important to see their pediatrician as soon as possible. Swimmer’s ear is very painful and can lead to secondary infections if untreated.

Treatment for swimmer’s ear is relatively easy. The child’s doctor may prescribe ear drops that contain antibiotics to fight the infection. Sometimes a small cotton wick is inserted into the ear to enable the medicine to target the infection. The drops are usually given several times a day for seven to 10 days. It’s important to keep water out of your child’s ear during the course of treatment.

Swimmer’s ear can put a damper on any child’s summer fun. But with prevention and prompt treatment when identified, they’ll be back in the water in no time.