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Neurosciences

Outcomes After Surgical Interventions for Abusive Head Trauma
 Outcomes After Surgical Interventions for Abusive Head Trauma 1024 683 Mary Bates, PhD
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Study suggests that most children can make clinically meaningful recoveries after neurosurgical intervention. Abusive head trauma (AHT) is a leading cause of injury and death in children under 5 years, according to the Centers for Disease Control and Prevention (CDC), yet the scientific literature on neurosurgical intervention for this population is mixed. Given the range…

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Novel Cause of Brain Mosaicism and Focal Epilepsy Identified
 Novel Cause of Brain Mosaicism and Focal Epilepsy Identified 1024 575 Abbie Miller
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In Nature Genetics, researchers report a novel mechanism for the origin of brain chromosomal mosaicism and link brain mosaic chromosome 1q gain to a distinct clinical phenotype.   In most people, every cell in their body contains the same genetic information. However, sometimes people can have two or more genetically different sets of cells. This…

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Does Etiology Impact Outcomes After Hemispherectomy?
 Does Etiology Impact Outcomes After Hemispherectomy? 1024 575 Jessica Nye, PhD
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Patients with cerebral palsy (CP) who have comorbid medically intractable epilepsy (MIE) had similar quantitative functional and seizure outcomes following functional hemispherotomy (FH) or anatomic hemispherectomy (AH), regardless of vascular or dysplastic MIE etiologies.   Early onset seizures are a common comorbidity in CP, affecting between 30% and 50% of patients. Among the patients with…

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Deep Brain Stimulation Ameliorates Symptoms of Genetic Movement Disorder
 Deep Brain Stimulation Ameliorates Symptoms of Genetic Movement Disorder 150 150 Mary Bates, PhD
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First report of DBS for management of tremor in a treatment-resistant AIFM1-related disorder.   In a new case series, researchers from Nationwide Children’s report using deep brain stimulation (DBS) to help manage tremor due to a genetic movement disorder in two brothers. The report, published in the journal Pediatric Neurology, suggests DBS may be useful…

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Understanding the Cellular Mechanisms to Drive New Therapies for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS)
 Understanding the Cellular Mechanisms to Drive New Therapies for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) 1024 577 Jessica Nye, PhD
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Derived cells from patients with NEDAMSS exhibit perturbed cellular respiration and poor neuronal survival, both of which can be improved with CuATSM treatment. NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures) is a rare neurological disorder discovered in 2018 with only 25 formally diagnosed patients worldwide. It is primarily caused by…

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Proof-of-Concept Study Shows Promise of Exon-Skipping Gene Therapy Approach in Duchenne Muscular Dystrophy
 Proof-of-Concept Study Shows Promise of Exon-Skipping Gene Therapy Approach in Duchenne Muscular Dystrophy 1024 575 Lauren Dembeck
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Duchenne muscular dystrophy (DMD) is a devastating progressive muscle-wasting disease that leads to loss of motor and cardiorespiratory function. The disease is caused by mutations in the DMD gene that result in the loss of expression of the dystrophin protein, which plays a critical role during contraction and relaxation of muscle. To date, the U.S.…

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New Guidelines for Care of Children With Cerebral Palsy
 New Guidelines for Care of Children With Cerebral Palsy 1024 683 Abbie Miller
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Young child with Cerebral Palsy

Guidelines from the American Academy of Pediatrics and the American Academy for Cerebral Palsy and Developmental Medicine highlight advances in diagnosis, care and outcomes for children and adolescents with cerebral palsy. In late 2022, the American Academy of Pediatrics and the American Academy for Cerebral Palsy and Developmental Medicine released new guidelines to help primary…

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Exploring the Complex Immune Microenvironment of Rasmussen Encephalitis
 Exploring the Complex Immune Microenvironment of Rasmussen Encephalitis 1024 587 Lauren Dembeck
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Researchers used a multi-omics approach to gain a deeper understanding of aberrant cellular signaling leading to progression of a rare childhood neurological disease.   Rasmussen encephalitis is a very rare childhood neurological disease characterized by chronic progressive inflammation of one hemisphere of the brain, leading to loss of function, neurodegeneration, and drug-resistant epilepsy. Researchers have…

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Low-Resource Screening Tool Demonstrates Superior Predictive Value for Cerebral Palsy in Infants
 Low-Resource Screening Tool Demonstrates Superior Predictive Value for Cerebral Palsy in Infants 1024 683 JoAnna Pendergrass, DVM
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The use of lower-resource screening tools for cerebral palsy in infants can help increase early detection of the condition and promote access to early interventions.   A recent study reported that the Hammersmith Infant Neurological Examination (HINE), when compared with the Test of Infant Motor Performance (TIMP), had the better predictive value for detecting cerebral…

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Using Hormone Therapy First Drives Earlier Remission From Infantile Epileptic Spasms Syndrome
 Using Hormone Therapy First Drives Earlier Remission From Infantile Epileptic Spasms Syndrome 1024 575 Natalie Wilson
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Recent research conducted at Nationwide Children’s Hospital demonstrated standardizing hormone therapy as the first treatment for infantile spasms improved rates of early remission. Infantile epileptic spasms syndrome (IESS) is an uncommon epilepsy syndrome characterized by seizures called infantile spasms that begin between 1 and 24 months of age (with a peak age of onset at…

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Study Suggests Survivors of Pediatric Brain Tumors Have Altered Connectivity of Key Brain Regions
 Study Suggests Survivors of Pediatric Brain Tumors Have Altered Connectivity of Key Brain Regions 1024 575 Lauren Dembeck
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The findings contribute to a scant body of literature on the changes in functional connection within the brain and neurocognitive outcomes in survivors of pediatric brain tumors. Pediatric brain tumors are the most common solid tumor diagnosis among children in the United States. With advances in treatment, the 5-year survival rate among these children and…

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Quality of Life in Pediatric Patients With Non-ambulatory Cerebral Palsy and Epilepsy
 Quality of Life in Pediatric Patients With Non-ambulatory Cerebral Palsy and Epilepsy 600 400 Mary Bates, PhD
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Study indicates that quality of life in young people with non-ambulatory cerebral palsy decreases with the use of more antiseizure medications. In a new study, researchers from Nationwide Children’s Hospital assessed the relationship between epilepsy-specific characteristics and proxy-reported health-related quality of life in children and young people with non-ambulatory cerebral palsy. The findings indicate that…

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Featured Researcher — Allison Bradbury, MS, PhD
 Featured Researcher — Allison Bradbury, MS, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES
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Allison Bradbury, MS, PhD, is an accomplished principal investigator in the Center for Gene Therapy at Nationwide Children’s Hospital, but her introduction to medical research and the field of rare neurologic diseases wasn’t at school — it was in her great uncle’s garage, when his work as a veterinary pathologist led him to identify an inherited…

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Featured Researcher — Tracy Bedrosian, PhD
 Featured Researcher — Tracy Bedrosian, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES
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Tracy Bedrosian, PhD, is a principal investigator in the Steve and Cindy Rasmussen Institute for Genomic Medicine and a specialist in brain mosaicism and neurodevelopment working to uncover the impact that localized mutations in brain cells have on epilepsy symptoms, autism and other neurodevelopmental diseases. She collaborates with neurologists and other experts in the Steve…

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Epilepsy Surgery Underutilized in Young Patients With Drug-Resistant Epilepsy
 Epilepsy Surgery Underutilized in Young Patients With Drug-Resistant Epilepsy 1024 575 Katie Brind'Amour, PhD, MS, CHES
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Color close up image of young baby girl looking at hanging toys

Research suggests that early surgical intervention can boost developmental outcomes and even cure young children with intractable epilepsy, but low referral rates and other barriers result in limited access for some. Early surgery for drug-resistant epilepsy (DRE) can improve quality of life by reducing or even eliminating seizures. DRE affects about one in every three…

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4-Year Study Finds No Correlation Between Head Impacts and Cognitive Outcomes in Youth Tackle Football Players
 4-Year Study Finds No Correlation Between Head Impacts and Cognitive Outcomes in Youth Tackle Football Players 1024 683 Lauren Dembeck
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In the longest study of its kind, researchers studied individual players through 4 seasons of youth tackle football and found no correlation between the number or severity of head impacts and cognitive and behavioral outcomes.  When children are considering playing contact sports, parents/guardians and medical providers must weigh the risks and benefits. One of the…

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Long-Term Follow-up Study Shows Cannabidiol is Safe and Effective for Lennox-Gastaut Syndrome
 Long-Term Follow-up Study Shows Cannabidiol is Safe and Effective for Lennox-Gastaut Syndrome 695 473 Mary Bates, PhD
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Black and white environmental portrait of Dr. Anup Patel standing in the hospital in his lab coat with his hand in his pocket

Long-term treatment with highly purified plant-based CBD shows continued seizure reduction and no new side effects. The results of a long-term open-label extension trial of plant-derived, highly purified cannabidiol (CBD) show the treatment is effective and safe long term for patients with Lennox-Gastaut syndrome. The treatment had a similar safety profile as in the original…

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