NIH Family Members Giving Back: Charlotte Phillips

Charlote Phillips and members of a Mennonite community

Caption: Charlotte Phillips during a visit to a Missouri Mennonite community.
Credit: Richard Hillman

At 1 a.m., most people are fast asleep in their beds. But Charlotte Phillips sometimes finds herself up at that odd hour, waiting anxiously in a deserted Missouri parking lot far from her home. Phillips drives there to meet a contact for a very special delivery: a packet of cheek swabs and blood samples from a newborn Mennonite baby at risk of a life-threatening genetic condition called maple syrup urine disease (MSUD).

For more than two decades, Phillips, an NIH grantee at the University of Missouri, Columbia, has volunteered to ensure that the DNA in these swabs and samples is tested for MSUD within hours of a baby’s birth. If found to be positive for the condition, the baby can receive a needed special formula. Without it, the baby would suffer brain damage within days from its inability to break down amino acids in protein-rich foods, including breast milk and standard infant formula. Hurrying off at a moment’s notice isn’t always convenient, but Phillips, who is not Mennonite, feels a personal calling to do it. She wouldn’t want any babies to die.

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Brain Scans Show Early Signs of Autism Spectrum Disorder

Unhappy baby

Source: Getty Images

For children with autism spectrum disorder (ASD), early diagnosis is critical to allow for possible interventions at a time when the brain is most amenable to change. But that’s been tough to implement for a simple reason: the symptoms of ASD, such as communication difficulties, social deficits, and repetitive behaviors, often do not show up until a child turns 2 or even 3 years old.

Now, an NIH-funded research team has news that may pave the way for earlier detection of ASD. The key is to shift the diagnostic focus from how kids act to how their brains grow. In their brain imaging study, the researchers found that, compared to other children, youngsters with ASD showed unusually rapid brain growth from infancy to age 2. In fact, the growth differences were already evident by their first birthdays, well before autistic behaviors typically emerge.

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Are E-cigarettes Leading More Kids to Smoke?

Cigarettes vs. E-Cigarettes

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Today, thanks to decades of educational efforts about the serious health consequences of inhaled tobacco, fewer young people than ever smoke cigarettes in the United States. So, it’s interesting that a growing of number of middle and high school kids are using e-cigarettes—electronic devices that vaporize flavored liquid that generally contains nicotine.

E-cigarettes come with their own health risks, including lung inflammation, asthma, and respiratory infections. But their supporters argue that “vaping,” as it’s often called, might provide an option that would help young people steer clear of traditional cigarettes and the attendant future risks of lung cancer, emphysema, heart disease, and other serious health conditions. Now, a new NIH-funded study finds that this is—pardon the pun—mostly a pipe dream.

Analyzing the self-reported smoking behaviors of thousands of schoolkids nationwide, researchers found no evidence that the availability of e-cigarettes has served to accelerate the decline in youth smoking. In fact, the researchers concluded the opposite: the popularity of e-cigarettes has led more kids—not fewer—to get hooked on nicotine, which meets all criteria for being an addictive substance.

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Peanut Allergy: Early Exposure Is Key to Prevention

Kids and peanuts

Credit: Thinkstock (BananaStock, Kenishirotie)

With peanut allergy on the rise in the United States, you’ve probably heard parents strategizing about ways to keep their kids from developing this potentially dangerous condition. But is it actually possible to prevent peanut allergy, and, if so, how do you go about doing it?

There’s an entirely new strategy emerging now! A group representing 26 professional organizations, advocacy groups, and federal agencies, including the National Institutes of Health (NIH), has just issued new clinical guidelines aimed at preventing peanut allergy [1]. The guidelines suggest that parents should introduce most babies to peanut-containing foods around the time they begin eating other solid foods, typically 4 to 6 months of age. While early introduction is especially important for kids at particular risk for developing allergies, it is also recommended that high-risk infants—those with a history of severe eczema and/or egg allergy—undergo a blood or skin-prick test before being given foods containing peanuts. The test results can help to determine how, or even if, peanuts should be introduced in the youngsters’ diets.

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Resurgence of Measles, Pertussis Fueled by Vaccine Refusals

Baby getting a vaccine

Credit: Centers for Disease Control and Prevention

I was born in 1950 and was home-schooled until the 6th grade. Thus, I missed exposure to several childhood illnesses that affected most of my generation. I never gave it much thought until, as a medical resident in North Carolina in 1979, I came down with a potentially life-threatening febrile illness that required hospitalization. Only after four days of 105 degree fever did a rash appear, and the diagnosis was made: measles. That was the sickest I have ever been. It turned out that one of my daughter’s school friends had developed measles in a small outbreak of unvaccinated kids in Chapel Hill, and I had been exposed to her. I was born too early to have been vaccinated.

But for most people born in the United States after the 1960s, they have never had to experience the high fever and rash of the measles or the coughing fits of pertussis, commonly known as whooping cough. That’s because these extremely contagious and potentially life-threatening diseases have been controlled with the use of highly effective vaccines and strong vaccination programs. And yet, the number of Americans sickened with measles and pertussis each year has recently crept back up.

Now, an NIH-funded report confirms that many of the recent outbreaks of these vaccine-preventable diseases have been fueled by refusal by some parents to have their children vaccinated [1]. The findings, published recently in JAMA, come as an important reminder that successful eradication of infectious diseases depends not only on the availability of safe and effective vaccines, but also on effective communication about the vaccines and the diseases they prevent.

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