Stories about: autism

TriVox Health: improving care through shared online tracking

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Since we spoke with the founders of TriVox Health in 2014, their disease management program has taken off. The program began in Boston Children’s Hospital’s Division of Developmental Medicine as a way to more efficiently collect information on children’s ADHD symptoms from parents and teachers. It is now a user-friendly, web-based platform for tracking multiple conditions, incorporating medication confirmation, side effects reporting, disease symptom surveys and quality of life measures.

Vector sat down with founders Eric Fleegler, MD, MPH and Eugenia Chan, MD, MPH to learn about TriVox Health’s rapid growth over the past year, and what their plans are for the future.

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Beth Stevens: A transformative thinker in neuroscience

When 2015 MacArthur “genius” grant winner Beth Stevens, PhD, began studying the role of glia in the brain in the 1990s, these cells—“glue” from the Greek—weren’t given much thought. Traditionally, glia were thought to merely protect and support neurons, the brain’s real players.

But Stevens, from the Department of Neurology and the F.M. Kirby Neurobiology Center at Boston Children’s Hospital, has made the case that glia are key actors in the brain, not just caretakers. Her work—at the interface between the nervous and immune systems—is helping transform how neurologic disorders like autism, amyotrophic lateral sclerosis (ALS), Alzheimer’s disease and schizophrenia are viewed.

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NIH funding snapshots: Your tax dollars at work

2014NIHFundingFunding drives biomedical research, and research drives treatment innovation. Access to funds, particularly National Institute of Health (NIH) awards, is critical to move research forward. The 21st Century Cures Act, which passed the U.S. House on July 10, could give the NIH $8.75 billion more in new grants to disperse over the next five years, the largest increase since the Recovery Act of 2009.

How would those funds be used? Can research find a better way to treat patients? Prevent disease? Disseminate advances in medicine?

In 2014, Boston Children’s led the U.S. in NIH awards. Here’s a look at how a few research teams are leveraging NIH funding to improve care for both children and adults.

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Timing is everything: Circadian rhythms, protein production and disease

Protein production by the clock: mouse over to learn more. (Illustration: Yana Payusova, used with permission.)

Second in a two-part series on circadian biology and disease. Read part 1.

We are oscillating beings. Life itself arose among the oscillations of the waves and the oscillations between darkness and light. The oscillations are carried in our heartbeats and in our circadian sleep patterns.

A new study in Cell shows how these oscillations reach all the way down into our cells and help mastermind the timing of protein production.

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New Human Neuron Core to analyze ‘disease in a dish’

Human Neuron CoreLast week was a good week for neuroscience. Boston Children’s Hospital received nearly $2.2 million from the Massachusetts Life Sciences Center (MLSC) to create a Human Neuron Core. The facility will allow researchers at Boston Children’s and beyond to study neurodevelopmental, psychiatric and neurological disorders directly in living, functioning neurons made from patients with these disorders.

“Nobody’s tried to make human neurons available in a core facility like this before,” says Robin Kleiman, PhD, Director of Preclinical Research for Boston Children’s Translational Neuroscience Center (TNC), who will oversee the Core along with neurologist and TNC director Mustafa Sahin, MD, PhD, and Clifford Woolf, PhD, of Boston Children’s F.M. Kirby Neurobiology Center. “Neurons are really complicated, and there are many different subtypes. Coming up with standard operating procedures for making each type of neuron reproducibly is labor-intensive and expensive.”

Patient-derived neurons are ideal for modeling disease and for preclinical screening of potential drug candidates, including existing, FDA-approved drugs. Created from induced pluripotent stem cells (iPSCs) made from a small skin sample, the lab-created human neurons capture disease physiology at the cellular level in a way that neurons from rats or mice cannot.

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Autism-like behaviors, impaired nerve tracts found in institutionalized children

Sad child-shutterstock_92102072 croppedThe sad experience of abandoned children in Romanian orphanages continues to provide stark lessons about the effects of neglect and deprivation of social and emotional interactions. The long-running Bucharest Early Intervention Project (BEIP) has been able to transfer some of these institutionalized children, selected at random, into quality foster care homes—and documented the benefits.

In a review article in the January 29 Lancet, BEIP investigator Charles A. Nelson, PhD, and medical student Anna Berens, MsC, both of Boston Children’s Hospital, make a strong case for global deinstitutionalization—as early in a child’s life as possible. Currently, it’s estimated that at least 8 million children worldwide are growing up in institutional settings.

The BEIP studies have documented a series of problems in institutionalized children, especially those who aren’t placed in foster care or are placed when they are older:

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“Deep sequencing” finds hidden causes of brain disorders

brain malformations sequencing mosaicism
New methods can find a mutation that strikes just 1 in 10 cells.

It’s become clear that our DNA is far from identical from cell to cell and that disease-causing mutations can happen in some of our cells and not others, arising at some point after we’re conceived. These so-called somatic mutations—affecting just a percentage of cells—are subtle and easy to overlook, even with next-generation genomic sequencing. And they could be more important in neurologic and psychiatric disorders than we thought.

“There are two kinds of somatic mutations that get missed,” says Christopher Walsh, MD, PhD, chief of Genetics and Genomics at Boston Children’s Hospital. “One is mutations that are limited to specific tissues: If we do a blood test, but the mutation is only in the brain, we won’t find it. Other mutations may be in all tissues but in only a fraction of the cells—a mosaic pattern. These could be detectable through a blood test in the clinic but aren’t common enough to be easily detectable.”

That’s where deep sequencing comes in. Reporting last month in The New England Journal of Medicine, Walsh and postdoctoral fellow Saumya Jamuar, MD, used the technique in 158 patients with brain malformations of unknown genetic cause, some from Walsh’s clinic, who had symptoms such as seizures, intellectual disability and speech and language impairments.

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Tracking what happens between clinic visits: Will it improve care?

Tracking patients between clinical visits
A randomized trial will soon test whether web-based updates from parents and teachers improve outcomes in ADHD, autism and more.
Eugenia Chan, MD, MPH, is a developmental-behavioral pediatrician and health services researcher in the Division of Developmental Medicine at Boston Children’s Hospital. She runs the Developmental Medicine Centers ADHD Program and is co-developer of ICISS Health, a web-based disease monitoring and management system.

When I set out with my collaborator Eric Fleegler, MD, MPH, to build a web-based tracking system for children with attention deficit hyperactivity disorder (ADHD), we focused on a single problem—getting parents and teachers to fill out symptom questionnaires in time to help doctors make informed clinical decisions at follow-up visits. We had no inkling of the possibilities that this kind of software platform could hold, or how it might grow in the future.

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Brain stimulation advances toward application in pediatrics

Rotenberg_AlexanderAlexander Rotenberg, MD, PhD, is a pediatric neurologist and epileptologist at Boston Children’s Hospital and director of the hospital’s Neuromodulation Program.

In recent years, electrical devices stimulating the brain or peripheral nerves have emerged as clinical and scientific tools in neurology and psychiatry. In 2014, the Food and Drug Administration has approved three tools at this writing: a device for treatment of epileptic seizures via electrodes implanted beneath the skull; a device for shortening migraine headache via transcranial magnetic stimulation (TMS) of the brain; and a transcutaneous electrical nerve stimulation (TENS) device for migraine prevention. (Click image below for details.)

Stimulating the nervous system to treat neuropsychiatric symptoms is not new. In the first century AD, the Roman physician Scribonius Largus documented treating headaches by applying electric torpedo fish to the head.

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Brain structural imaging: Gleaning more with math

MRI images showing isotropic diffusion in autism
A new MRI computational technology (above right) captures differences in water diffusion in the brain across a population of children with autism as compared with controls. This non-directional, “isotropic” diffusion pattern, not evident with conventional diffusion tensor imaging (DTI), may be an indicator of brain inflammation.

Diffusion tensor imaging (DTI), a form of magnetic resonance imaging, has become popular in neuroscience. By analyzing the direction of water diffusion in the brain, it can reveal the organization of bundles of nerve fibers, or axons, and how they connect—providing insight on conditions such as autism.

But conventional DTI has its limits. For example, when fibers cross, DTI can’t accurately analyze the signal: the different directions of water flow effectively cancel each other out. Given that an estimated 60 to 90 percent of voxels (cubic-millimeter sections of brain tissue) contain more than one fiber bundle, this isn’t a minor problem. In addition, conventional DTI can’t interpret water flow that lacks directionality, such as that within the brain’s abundant glial cells or the freely diffusing water that results from inflammation—so misses part of the story.

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