Article published by NYU Langone Health

In a study designed to better understand sudden unexpected deaths in young children, which usually occur during sleep, researchers have identified brief seizures accompanied by muscle convulsions as a potential cause. The study findings come from a registry of more than 300 cases of sudden unexplained death in children (SUDC) at NYU Grossman School of Medicine. Researchers used extensive medical record analysis and video evidence donated by families to document the inexplicable deaths of seven toddlers that were potentially attributable to seizures. For decades, researchers have sought an explanation to sudden death events in children, noticing a link between those with a history of febrile seizures (seizures accompanied by fever). Earlier research had reported that children who died suddenly and unexpectedly were 10 times more likely to have had febrile seizures than children who did not die suddenly and unexpectedly. Febrile seizures are also noted in one-third of SUDC cases registered at NYU Langone Health. Published in the journal Neurology, the new study involved an analysis of the rare SUDC cases for which there were home video recordings. “Our study, although small, offers the first direct evidence that seizures may be responsible for some sudden deaths in children, which are usually unwitnessed during sleep,” said study lead investigator Laura Gould, MSc, MA, PT, a research assistant professor at NYU Langone. Gould points out that if not for the video evidence, the death investigations would not have implicated a seizure. “These findings show that seizures are much more common than patients’ medical histories suggest, and that further research is needed to determine if seizures are frequent occurrences in sleep-related deaths in toddlers, and potentially in infants, older children, and adults,” said study senior investigator and neurologist Orrin Devinsky, MD.  

Article published by Epilepsy Research

Epilepsy with eyelid myoclonia (EEM) is a generalized epilepsy syndrome with childhood-onset and 2:1 female predominance that consists of: 1. eyelid myoclonia with or without absence seizures, 2. eye closure induced seizures or EEG paroxysms, 3. clinical or EEG photosensitivity. While eyelid myoclonia is the disease hallmark, other seizure types, including absence seizures and generalized tonic-clonic seizures, may be present. It is thought to have a genetic etiology, and around one-third of patients may have a positive family history of epilepsy. Recently, specific genetic mutations have been recognized in a minority patients, including in SYNGAP1, NEXMIF, RORB, and CHD2 genes. There are no randomized controlled trials in EEM, and the management literature is largely restricted to small retrospective studies. Broad-spectrum antiseizure medications such as valproate, levetiracetam, lamotrigine, and benzodiazepines are typically used. Seizures typically persist into adulthood, and drug-resistant epilepsy is reported in over 50%.

Article published by Pharmacy Times

Infants exposed to invasive Group B Streptococcus (iGBS) meningitis during their first 3 months of life could have a greater risk of developing epilepsy in later childhood compared to infants who were not exposed, according to a 20-year study conducted from Denmark that was recently published in JAMA Network Open. iGBS is a leading cause of neonatal/young infant mortality. It is also associated with maternal death, stillbirth, and neurodevelopmental impairment (NDI) in the surviving neonates. NDIs include stroke, encephalopathy, cerebral palsy, intellectual and/or motor, vision, hearing impairment, sepsis, and meningitis. Among the limited and small studies that analyze NDI outcomes, most focus on meningitis.

Meningitis may cause epilepsy following neonatal iGBS disease. However, more research is needed to understand iGBS disease on the risk of long-term epilepsy, and the risk among patients with neonatal iGBS sepsis. Investigators evaluated the cumulative risk (CR) of an infant diagnosed with iGBS sepsis or meningitis during the first 3 months of age developing epilepsy. The team accounted for sex, prematurity, and maternal socioeconomic position (SEP) as effect modification factors.

Article published by  SciTechDaily

International research teams have uncovered a new cause for pediatric seizures: mosaicism, a condition in which cells within the same individual have different genetic compositions.

Approximately 4% of the population is affected by epilepsy, making it one of the most prevalent brain disorders among children. While modern medicine is effective in preventing seizures in the majority of patients, unfortunately, 20% of those with epilepsy do not respond to treatment.

In some cases, the cause of epilepsy may stem from patches of damaged or abnormal brain tissue known as “malformations of cortical development” (MCD). These MCDs result in a variety of neurodevelopment disorders. Surgical resection or removal of the patch can cure the seizures, and epilepsy surgery to improve neurological outcomes is now a key part of the modern medical armamentarium, but what causes the patches has largely remained a mystery.

In a recent paper published in Nature Genetics, researchers at the University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine, collaborating with an international consortium of more than 20 children’s hospitals worldwide, report a significant breakthrough in understanding the genetic causes of MCD.

Members of the Focal Cortical Dysplasia Neurogenetics Consortium investigated 283 brain resections from children across a range of MCD types, with parental consent, looking for potential genetic causes. Because most brain tissue in these children is normal, the scientists focused on mutations present in a small subset of brain cells, a phenomenon termed genetic somatic mosaicism.

“This was a decade-long journey, bringing specialists together from around the world, to recruit patients for this study,” said senior study author Joseph Gleeson, MD, Rady Professor of Neuroscience at UC San Diego School of Medicine and director of neuroscience research at the Rady Children’s Institute for Genomic Medicine. “Until recently, most hospitals did not study resected brain tissue for genetic causes. The consortium organized a biobank to store tissue for high-throughput mosaicism analysis.”

Article published by NewsWise

Researchers from the Neuroscience Center at Children’s Hospital of Philadelphia (CHOP) have developed a prediction model that determines which newborn babies are likely to experience seizures in the Neonatal Intensive Care Unit (NICU). This model could be incorporated into routine care to help the clinical team decide which babies will need electroencephalograms (EEGs) and which babies can be safely managed in the Neonatal Care Unit without monitoring through EEGs. This would allow families and providers to care for babies without intrusive and unnecessary procedures. The findings were published by The Lancet Digital Health.

Neonatal seizures are a common neurological issue in newborn babies. In particular, approximately 30% of newborn babies with temporary lack of oxygen to the brain (known as hypoxic-ischemic encephalopathy, or HIE) will have seizures. Most of these seizures can only be detected through EEG monitoring and not simply through clinical observation, an important lesson that has shaped the management of babies with seizures in the last two decades. Newborns with HIE are at an increased risk for neurobehavioral problems and epilepsy later in life, and detecting and treating seizures is important to reduce seizure-induced injury, thereby improving outcomes for newborns with early seizures.

Current guidelines suggest that newborns with HIE undergo four to five days of EEG monitoring to detect seizures. However, this approach is not always feasible, as many of these babies receive care in NICUs that do not have access to continuous EEG (CEEG). Even NICUs in large healthcare networks often only have limited EEG resources, especially as the interpretation of EEG readings is time intensive for the entire care team, including physicians and technologists.

Predicting which newborns will experience seizures is complex, and prior attempts to predict future seizures using clinical and EEG data have not yielded highly accurate results. To help address these issues, researchers at CHOP used data from a recently developed EEG reporting form that is used for all EEGs to build prediction models using machine learning methods.

“In this study, we used data from the EEGs of more than 1,000 newborns to build models to predict neonatal seizures,” first study author Jillian McKee, MD, PhD, a pediatric epilepsy fellow in the Division of Neurology and the Pediatric Epilepsy Program at CHOP. “This data helped us optimize which newborns should receive EEG monitoring in the NICU.”