Stories about: Pediatrics

For dyslexia, writing is often on the wall from birth

Writing on the wall-shutterstock_345548735-croppedSome 5 to 17 percent of all children have developmental dyslexia, or unexplained reading difficulty. When a parent has dyslexia, the odds jump to 50 percent. Typically, though, dyslexia isn’t diagnosed until the end of second grade or as late as third grade — when interventions are less effective and self-esteem has already suffered.

“It’s a diagnosis that requires failure,” says Nadine Gaab, PhD, an investigator in Boston Children’s Hospital’s Laboratories of Cognitive Neuroscience.

But a new study led by Gaab and lab members Nicolas Langer, PhD, and Barbara Peysakhovich finds that the writing is on the wall as early as infancy — if only there were a way to read it and intervene before the academic, social and emotional damage is done.

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Rallying a backup gene could boost strength in spinal muscular atrophy

Vivienne-20150819Spinal muscular atrophy (SMA), a condition affecting one in every 6,000 to 10,000 children, is caused by a defect in a gene called SMN1 — which stands for “survival of motor neuron.” The defect leaves children with too little functioning SMN protein to maintain their motor neurons, which begin wasting away. Muscle strength declines and children eventually develop difficulties eating and breathing.

For Vivienne, whose name means “to live,” that meant being slow to reach motor milestones like crawling, cruising and walking as a toddler. For her parents, it meant hearing that her life expectancy would not be normal.

But a new back-door approach seems to be helping Vivienne, now in first grade, at least thus far.

As it happens, most of us carry a backup gene for SMN1 — namely SMN2.

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8 winning innovations at Hacking Pediatrics

general hackersHacking Pediatrics, now in its third year, continues to experiment with its format. 2015’s “Mashup” had a greater focus on partnerships, curation and delivering value to innovators at Boston Children’s Hospital. The brunt of the idea pitching and team formation took place in advance, allowing the event, on November 14, to be collapsed into one day.

The Hacking Pediatrics team (Kate Donovan, Mike Docktor, Meg McCabe, Cassandra Bannos and Leila Amerling) brokered collaborations with a dozen industry partners such as Microsoft, Cerner, Box, CVS Health and Boston Scientific. Over the course of a hectic 12-hour day, they worked with 17 teams of Boston Children’s innovators and experts from partner organizations who presented their final ideas to a panel of judges.

In another change for 2015, the Hacking Pediatrics team issued nine awards — but no immediate prizes. This was meant to incentivize teams to continue to work and meet milestones to earn real rewards, like a $10,000 design prize offered up by design firm Mad*Pow.

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The future of pediatric precision medicine: opportunities, barriers

“Precision medicine” looks to be heading down the same path as “big data” and “innovation”: The term is becoming so widely used that it threatens to detract from the real impact it is already having in patients’ lives.

But for children, who are still developing and have the most to gain, precision medicine is more than a bumper sticker. On the micro scale, early genetic testing—perhaps routinely, someday, in newborns—can help guide medical care, targeted therapies and preventive strategies based on a child’s genetic makeup. On a macro scale, big data from the larger population becomes a predictive tool, guiding medical decisions that could be life-altering in a still-malleable child.

“If you can make an early diagnosis, you can amplify the effects of what you do, rather than try to change the highways once they’re built,” said Wendy Chung, MD, PhD, of Columbia University Medical Center during a panel discussion last week at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards (#PedInno15).

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Leroy Hood and P4: How precision medicine will transform healthcare

Leroy Hood, MD, PhD, might not be a household name, but his impact on genetics and systems biology is hard to understate. Most notably, Hood invented the automated DNA sequencer that made the Human Genome Project possible.

In recent years, Hood has been working towards an even broader revolution in health care through an approach he calls P4 Medicine. The four Ps stand for predictive, preventative, personalized and participatory.

In his keynote presentation at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards, Hood laid out P4 Medicine’s radical vision for the future of health care. It’s a system that encompasses not just treating health problems, but enhancing wellness and preventing problems from occurring in the first place.

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Rock Health, Boston Children’s Hospital join to speed pediatric digital health startups

Bridget Duffy MDBoston Children’s Hospital and Rock Health, a venture fund dedicated to digital health, announced a strategic partnership aimed at accelerating pediatric health technologies during the hospital’s 2015 Global Pediatric Innovation Summit + Awards. Bridget Duffy, MD, is chair of Rock Health, chief Medical Officer of Vocera and co-founder of the Experience Innovation Network.

As a physician, entrepreneur, and especially as a parent, I am excited and inspired by a partnership between Rock Health and Boston Children’s Hospital to identify promising companies and cultivate emerging technologies focused on transforming pediatric care. Together, Rock Health and Boston Children’s Hospital will seed bigger ideas, accelerate adoption of new solutions, and massively change the way medicine is delivered to every child.

A global leader in pediatric clinical care, Boston Children’s Hospital will lend its expertise to support Rock Health’s portfolio and help shape the next generation of innovations. While Rock Health already has a proven track record with companies in this space, such as Kurbo Health, Cellscope and Kinsights, this close relationship with Boston Children’s will greatly accelerate the design and evaluation of new solutions, improving the health care experience for children and their caregivers.

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Siddhartha Mukherjee: Have we lost the fire to tackle childhood cancers?

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Siddhartha Mukherjee, MD, PhD, takes his audience on a tour of 60 years’ worth of successes in cancer. What does the future hold?

We’ve all heard the George Santayana quote, “Those who cannot remember the past are condemned to repeat it.” But there’s another way of thinking about the lessons that the past holds for the future: Those who do remember the past can recapture and harness earlier feelings of energy, urgency and possibility to overcome new problems, now and in the future.

That line of thinking threaded its way throughout the keynote address oncologist Siddhartha Mukherjee, MD, PhD, author of The Emperor of All Maladies, delivered today at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards 2015.

In taking the audience on a tour through the last 60 years of advances in cancer biology, genomics and treatment, Mukherjee highlighted the central role pediatrics played as the starting point for the cancer successes we see today. How, he asked, did children come to play such a central role? What can we learn from the successes in the 1950s and ’60s, when pediatric cancer started to evolve from a death sentence to a treatable, even curable disease?

And how, he asked, can we recapture and harness the energy and urgency of that time today?

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An eye on epilepsy: The work, life and innovations of Tobias Loddenkemper, MD

Epileptologist Tobias Loddenkemper, MD, director of clinical epilepsy research at Boston Children’s Hospital, is a seizure whisperer. He keeps a close watch on his patients, trying to discern seizure patterns and head off the developmental and learning problems that seizures can cause. A pioneer in the emerging field of chronoepileptology, he has partnered with Empatica and other companies to develop reliable seizure detection devices that could help doctors better time medication dosing and help prevent death from seizures, a real risk in children with severe epilepsy.

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Respiratory illness in children with gastroesophageal reflux: Are acid blockers part of the problem?

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(Flatcat via Shutterstock)

Gastroesophageal reflux disease (GERD), in which stomach acids back up into the esophagus, is increasingly diagnosed in children. One study based on insurance-claims data found that GERD diagnoses in infants more than tripled between 2000 and 2005 (from 3.4 to 12.3 percent). In addition to heartburn and chest pain, GERD has been implicated in cough, wheezing and pneumonia.

To reduce such acid-related symptoms, doctors increasingly prescribe acid suppression medications such as proton pump inhibitors (PPIs). They’re among the most-prescribed drug classes in the U.S. But clinicians in the Aerodigestive Program at Boston Children’s Hospital noticed that a large number of their GERD patients had lung cultures positive for bacteria, and that a strong predictor was the amount of non-acid reflux the child had.

“We then had to ask the question, ‘are acid suppression medications, which are being prescribed to treat respiratory symptoms, actually worsening the problem?’” says program director Rachel Rosen, MD, MPH. “What are these medications doing to change the bacteria composition in children?”

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Cloud-based complex care platform empowers clinicians and families alike

care coordination planningFor children with complex medical needs, care coordination across medical specialties is a major pain point, as is communication across multiple provider systems. And patients aren’t the only ones feeling the burden. Consider these startling statistics:

  • $25-$45 billion is wasted annually in the U.S. due to poor communication in health care.
  • $45 billion has been invested in tools that record and bill for care, but don’t manage care.
  • 40 percent of medical malpractice claims stem from poor communication.

Isaac Kohane, MD, PhD, and Kenneth Mandl, MD, of the Boston Children’s Hospital Computational Health Informatics (CHIP) program, felt care coordination was an area ripe for a technological solution.

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