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Genetic testing for pediatric epilepsy can be complicated, but beneficial

The use of genetic testing in pediatric epilepsy is complicated and the list of known epilepsy genes changes almost daily. The steps from a doctor initially evaluating a patient when they first demonstrate the symptoms of epilepsy to genetic diagnosis remain complex. In a review paper published today inEpilepsia, physicians from Nationwide Children’s Hospital discuss some of the genetic testing methods available for physicians, along with their advantages and disadvantages. The paper briefly reviews common pediatric epilepsy syndromes with strong genetic association, in hopes of providing a potentially useful algorithm for genetic testing in treatment resistant epilepsy. “Genetic testing can play an important role in the care provided to patients with epilepsy,” said Anup...

Study suggests potential way to predict autism or psychosis risk in children with genetic abnormality

Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis — that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia. But there has been no way to predict which child with the abnormality might be at risk for which disorder. New findings by researchers at UCLA and the University of Pittsburgh are the first to suggest a potential way to make that determination. In a study published in PLOS One, the researchers report having isolated specific genetic differences between people with the chromosomal deletion — known as 22q11.2 deletion syndrome or DiGeorge syndrome — who have autism and those who ...

Benefits and Complications of the Ketogenic Diet for Epilepsy

The ketogenic diet, also known as the traditional ketogenic diet and modified Atkin’s diet, is an important and validated dietary approach to controlling intractable epilepsy that focuses on a high-fat, protein, and low-carb diet. Yet despite its success in cases of drug-resistant epilepsy, the mechanism behind its effectiveness is still not well understood. Several hypotheses are based on the difference in cell metabolism between standard and fat-based KD, while other hypotheses focus on increased production of adenosine triphosphate. “There is an ion channel in the membrane of neurons which makes membrane less excitable; a potassium channel which is activated specifically by adenosine triphosphate (ATP). The more ATP is generated, the more this channel is active and the less excita...

Don’t Judge a Pediatric Hospital by their Re-admission Rates

Readmission rates of adult patients to the same hospital within 30 days are an area of national focus and a potential indicator of clinical failure and unnecessary expenditures. However, a new UC San Francisco (UCSF) study shows that hospital readmissions rates for children are not necessarily meaningful measures of the quality of their care. In the first multi-state study of children-s and non-children-s hospitals, assessing pediatric readmission and revisit rates – being admitted into the hospital again or visiting the emergency room within 30 days of discharge – for common pediatric conditions, UCSF researchers found that diagnosis-specific readmission and revisit rates are limited in their usefulness as a quality indicator for pediatric hospital care. The study found that w...

Anxiety in Children’s Epilepsy Tied to Differences in Brain Structure

Children with both epilepsy and anxiety have volumetric brain changes similar to those found in non-epileptic patients with anxiety, according to new research presented at the 30th International Epilepsy Congress (IEC). “Frequently, anxiety in epilepsy is viewed as a result of the unpredictability of seizures and is not treated,” said Jana Jones, PhD, assistant professor in neuropsychology at the University of Wisconsin School of Medicine and Public Health in Madison.

A Children’s Hospital doctor wages battle against epilepsy!

Renee Thomas proudly talks about how her 9½-month-old foster son, Steven, took his very first step a few days ago. It was a shaky attempt, but it was a big accomplishment for the youngster. He is dealing with infantile seizures that come with epilepsy — the result of being born with herpes encephalitis, a viral infection in his brain that was passed to him through his biological mother. Thomas took Steven in when he was 2 months old, despite warnings from social workers in Tulare County about the child’s medical history. “I said ‘Yes, I”ll take him.’ It didn’t matter to me,” says Thomas during an appointment with Dr. Andrew Mower at Children’s Hospital Central California in February. There was really no need to caution Thomas, who herse...

Epilepsy Won’t Hold Me Back!

Her story could have been a sad one, about a woman diagnosed with epilepsy at age 33. It could have been an angry tale, after she fell into a coma and suffered severe memory loss. Instead, Alysse Mengason describes her life as a blessing. She was living in Maryland with her fiancé, Andrew, when she experienced a grand mal seizure in her sleep. Shortly after arrival in the hospital emergency room, she was diagnosed with meningitis and encephalitis and slipped into a coma. When she woke several days later, she had lost approximately two-three years of her short-term memory. The 1987 Cranbrook graduate was planning to get married on the school’s campus. Instead, she found herself struggling to remember her fiancé’s name, or that her dad had recently died. She eventually moved into her mom’s h...

Scientists Show Biological Mechanism Can Trigger Epileptic Seizures

CINCINNATI, Sept. 19, 2012 /PRNewswire-USNewswire/ — Scientists have discovered the first direct evidence that a biological mechanism long suspected in epilepsy is capable of triggering brain seizures – opening the door for studies to seek improved treatments or even preventative therapies. Researchers at Cincinnati Children’s Hospital Medical Center report Sept. 19 in Neuron that molecular disruptions in small neurons called granule cells – located in the dentate gyrus region of the brain – caused brain seizures in mice similar to those seen in human temporal lobe epilepsy. The dentate gyrus is in the hippocampus of the temporal lobe, and temporal lobe epilepsy is one of the most common forms of the disorder. “Epilepsy is one of those rare disorders where we have no real preventative ther...

Novel questionnaire reliably assesses adverse effects of AEDs in children

  The adverse effects of antiepileptic drugs (AEDs) can be reliably measured in children from across the epilepsy spectrum in clinical and research settings with the novel Pediatric Epilepsy Side Effects Questionnaire (PESQ), say US scientists. “Assessment of side effects is challenging due to the use of different descriptive terms and the difficulty in determining their severity in an objective way,” explain Diego Morita and colleagues from Cincinnati Children’s Hospital Medical Center in Ohio. “The PESQ addresses many of these issues: it standardizes terminology, provides an objective measurement, and quantifies side effects that can be followed longitudinally.” Sanjeev Kothare, from Children’s Hospital Boston, Massachusetts, and Janelle Wagner, f...

Preliminary study shows that Topamax does not prevent normal growth in children

In a report published by the American Academy of Neurology, results were shown from a preliminary study of youngsters who receive Topiramate for partial-onset epilepsy. Unfortunately, there was no control group and there were not enough children in the study for these results to be taken as absolute. By Ed Susman, Contributing Writer, MedPage Today Published: April 30, 2012 Reviewed by Zalman S. Agus, MD; Emeritus Professor, Perelman School of Medicine at the University of Pennsylvania.   Action Points Note that this study was published as an abstract and presented at a conference. These data and conclusions should be considered to be preliminary until published in a peer-reviewed journal. Note that in this retrospective study, the use of topiramate in children with new onset epilepsy...

A promising new drug developed by a Canadian research team may be able to completely suppress childhood absence seizures!

Research could prove groundbreaking for treating epilepsy in children It can look as if a child is simply in a daze, awake but daydreaming. Yet inside their brain, a flurry of high-frequency signals is firing from neurons resulting in a so-called absence seizure. A Canadian-led research team has developed a new drug that completely suppresses absence seizures in rats, and could have groundbreaking effects on the treatment of epilepsy in children. The findings were published Wednesday in the peer-reviewed science journal Science Translational Medicine. The team began testing the drug on humans in December and expects to finish the first phase of clinical trials later this year, said neuroscientist Terry Snutch, the senior author of the study.

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