Stories about: epilepsy

Hillary Savoie: Parents as citizen scientists

hillary-and-esme
The author with 3-year-old Esmé at their home in New York. (Tracey Buyce Photography)

In my last post I explained the genetic testing process that led to my daughter Esmé receiving results of two mutations of unknown significance. One, on the gene PCDH19, was discovered in 2012 with the GeneDx infantile epilepsy panel. The other, on SCN8A, was found with whole exome sequencing, also through GeneDx, in 2014.

When we received the SCN8A result, I was fascinated by the notion that it would have been included in our original epilepsy panel had we only waited a handful of months. In fact, in the time since Esmé’s original test in 2012, almost 20 new genes have been added to the GeneDx Infantile Epilepsy panel.

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When your child isn’t just rare, but probably one of a kind

Savoie at home with 4-year-old Esmé in New York.
Savoie at home with 4-year-old Esmé in New York.

Hillary Savoie, PhD, founder and director of The Cute Syndrome Foundation, is author of Around And Into The Unknown, chronicling her family’s journey to find a diagnosis for Esmé, and Whoosh, about coming to terms with Esmé’s early medical complications.

I think my daughter Esmé is extraordinarily unique—from her tiny pudgy feet that she likes to stuff in her mouth to her beautifully lashed blue eyes and outrageously untamed hair. It’s a mom thing. I guess it is a symptom of loving another person more than life itself.

But my daughter is also unusual in a more scientific way: in her genes. 

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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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Epilepsy surgery: When it’s not good to wait

epilepsy surgery life expectancyAbout a third of children with epilepsy do not get better with drug treatment. Many physicians are inclined to try additional drugs to control the seizures—and there are many to choose from. However, analysis of data from tens of thousands of patients suggests that if two or more well-chosen drugs have failed, and surgery is a safe option, there’s no benefit in holding off.

The decision analysis, published in the February issue of Epilepsia, found that average life expectancy was more than five years greater when eligible children had surgery rather than prolonged drug treatment. And children spent more of their lives seizure-free.

Although clinical guidelines currently do call for earlier surgery, physicians tend to use it as a last resort—even when brain-mapping studies indicate that it’s unlikely to endanger vital brain structures.

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Intelligent ICU monitoring for patients in status epilepticus: BurSIn

The BurSIn system, in development, interprets EEG data along several key parameters and accurately identifies burst and suppression patterns.
The BurSIn system, in development, interprets EEG data along several key parameters and accurately identifies burst and suppression patterns.

Status epilepticus, a life-threatening form of persistent seizure activity in the brain, is challenging to treat. It requires hospitalization in an intensive care unit, constant monitoring and meticulous medication adjustment. An automated, intelligent monitoring system developed by clinicians and engineers at Boston Children’s Hospital could transform ICU care for this neurological emergency.

Typically, children in status epilepticus are first given powerful, short-acting seizure medications. If their seizures continue, they may need to be placed in a medically induced coma, using long-acting sedatives or general anesthetics. “The goal,” explains biomedical engineer Christos Papadelis, PhD, “is to supply enough sedating medication to suppress brain activity and protect the brain from damage, while at the same time avoiding over-sedation.”

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Seizure-detecting wristband could prevent sudden death from epilepsy

“My biggest fear is that if I am not there to help him, when I wake him up he will be dead from seizures.”

That mother’s fear has a sound basis. The risk for sudden death from epilepsy, or SUDEP, is as high as 1 in 100 in the sickest children with epilepsy, says Tobias Loddenkemper, MD, of the Epilepsy Center at Boston Children’s Hospital. Many of those seizures occur in sleep.

Loddenkemper has been testing a novel wristband that uses motion and sweat sensors to detect the onset of a seizure—upon which the device would sound an alert. So far, the device has performed well on tests at Boston Children’s, picking up more than 90 percent of generalized tonic-clonic (grand mal) seizures, says Loddenkemper. But more work is needed to reduce false alarms (often generated when children are playing video games) and enable to device to spot more subtle seizures that are less convulsive in nature.

“This work is triggered by some very personal experiences of parents calling my office telling me their child died in sleep from seizures,” says Loddenkemper. “I dread these calls. We want to prevent those calls.”

The device manufacturer has created a fundraising site to help further the wristband’s development.

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Seizure-detecting wristwatch moves forward: Embrace

As Epilepsy Awareness month closes out and we embark upon the holiday season, we’re pleased to see an innovation initiated here at Boston Children’s Hospital move toward commercial development. This wearable device for patients with epilepsy, called Embrace, is like a “smoke alarm” for unwitnessed seizures that may potentially prevent tragic cases of sudden, unexpected death from epilepsy (SUDEP) in the future.

The Bluetooth-enabled, sensor-loaded wristband, using technology developed and tested in collaboration with the MIT Media Lab, can detect the onset of a convulsive seizure based on the wearer’s movements and autonomic nervous system activity.

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Delivering a baby MEG

baby MEG
This array of sensors surrounding a baby’s head will give researchers and eventually clinicians a high-resolution image of neural activity.

Imagine you’re a clinician or researcher and you want to find the source of a newborn’s seizures. Imagine being able to record, in real time, the neural activity in his brain and to overlay that information directly onto an MRI scan of his brain. When an abnormal electrical discharge triggered a seizure, you’d be able to see exactly where in the brain it originated.

For years, that kind of thinking has been the domain of dreams. Little is known about infant brains, largely because sophisticated neuroimaging technology simply hasn’t been designed with infants in mind. Boston Children’s Hospital’s Ellen Grant, MD, and Yoshio Okada, PhD, are debuting a new magnetoencephalography (MEG) system designed to turn those dreams into reality.

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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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