Neurology

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

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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Predicting Disease Severity and Assessing Long-Term Outcomes of Pediatric La Crosse Virus
Predicting Disease Severity and Assessing Long-Term Outcomes of Pediatric La Crosse Virus 1024 683 JoAnna Pendergrass, DVM

Limited data exist on mosquito-borne La Crosse Virus in children, underscoring the importance of determining which patients are at risk for severe disease and long-term neurobehavioral difficulties.   La Crosse Virus (LACV) is a neuroinvasive arbovirus spread by the Aedes triseriatus mosquito, causing symptoms such as vomiting, seizures and altered mental status (AMS). Within the…

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Functional Neurological Disorders: What Pediatric Neurologists Should Know
Functional Neurological Disorders: What Pediatric Neurologists Should Know 150 150 Mary Bates, PhD

The diagnosis is common, yet this group of disorders has been subjected to confusion and stigma throughout history. Functional neurological disorders are a collection of disorders in which patients experience neurological symptoms, such as numbness, weakness, seizure-like events, or abnormal gait or movements, but without a visible underlying pathology. Underlying mechanisms for these disorders are…

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Variability in Cardiac Diagnostics and Therapies for Patients with Duchenne Muscular Dystrophy
Variability in Cardiac Diagnostics and Therapies for Patients with Duchenne Muscular Dystrophy 1024 670 Mary Bates, PhD

Survey shows different approaches to cardiac diagnostics and therapy among a multicenter collaborative network. Cardiac disease is a major cause of mortality in Duchenne muscular dystrophy (DMD), yet data regarding outcomes and cardiac disease progression are lacking. This has led to a highly variable approach to heart failure therapy in DMD from center to center,…

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A More Efficient Method for Diagnosing Electrical Status Epilepticus in Sleep?
A More Efficient Method for Diagnosing Electrical Status Epilepticus in Sleep? 375 280 Mary Bates, PhD

Calculating the spike-wave index of the EEG of just the first 100 seconds of sleep is enough for diagnosis. Electrical status epilepticus in sleep (ESES) is an electrographic pattern in which epileptiform activity is dramatically activated by sleep. The ESES pattern is a key electrographic feature in several pediatric seizure disorders that vary in severity.…

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COVID-19 and Neurologic Manifestations in Children
COVID-19 and Neurologic Manifestations in Children 1024 512 Marlina Lovett, MD
coronavirus

Just weeks after SARS-CoV-2 was identified, global consortiums were formed to combat the pandemic. Health care providers and scientists worked together to learn how SARS-CoV-2 impacted the body, to share information, to generate hypotheses and to develop treatment approaches. The Global Consortium Study of Neurologic Dysfunction in COVID-19 (GCS-NeuroCOVID) was designed to provide insight into…

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Featured Researcher — Tracy Bedrosian, PhD
Featured Researcher — Tracy Bedrosian, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES

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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Exploring the RNA Cargo of Extracellular Vesicles in Malignant Pediatric Brain Tumors
Exploring the RNA Cargo of Extracellular Vesicles in Malignant Pediatric Brain Tumors 150 150 JoAnna Pendergrass, DVM

The RNA cargo within the extracellular vesicles of medulloblastoma and diffuse infiltrative pontine glioma can provide valuable insight into diagnosing and treating these malignant pediatric brain tumors. Recent studies have shed light on extracellular vesicles’ ability to use their cargo, which includes small noncoding RNA (ncRNA), to facilitate cell-to-cell communication. Extracellular vesicles (EVs) derived from…

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Epilepsy Centers in United States Expand in Size and Specialized Testing Services with Accreditation
Epilepsy Centers in United States Expand in Size and Specialized Testing Services with Accreditation 150 150 Rebecca Cybulski

Recent data is used to analyze characteristics of accredited epilepsy centers across the United States, including testing, treatment and outcomes for drug resistant epilepsy patients. New research from the Abigail Wexner Research Institute at Nationwide Children’s Hospital has found that as a result of the increased number of accredited epilepsy centers in the United States, drug-resistant epilepsy…

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Improving Neuro-Critical Care Outcomes for Children in Sub-Saharan Africa
Improving Neuro-Critical Care Outcomes for Children in Sub-Saharan Africa 1024 683 Abbie Roth
Nicole O'Brien, MD

Nicole O’Brien, MD, is working with health experts in sub-Saharan Africa to develop Centers of Excellence for the use of transcranial doppler ultrasound (TCD).   The first time Nicole O’Brien went to Africa, she was not a doctor. In her words, she “wasn’t even close to medical.” She was staying in a small rural village…

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Children Testing Positive for X-ALD on Updated Newborn Screening Panels Require Long-Term Monitoring
Children Testing Positive for X-ALD on Updated Newborn Screening Panels Require Long-Term Monitoring 1024 575 Katie Brind'Amour, PhD, MS, CHES

A condition soon to be added to the Ohio Newborn Screening Panel may not affect children for years or even decades after diagnosis, and follow-up involves more than just the infant. Hospitals across the country collect a card of small drops of blood from a baby’s heel shortly after birth. These “bloodspots” are used to…

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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
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

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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Gene Therapy Rescues Phenotype in Preclinical Model for Limb Girdle Muscular Dystrophy 2A/R1
Gene Therapy Rescues Phenotype in Preclinical Model for Limb Girdle Muscular Dystrophy 2A/R1 1024 575 Abbie Roth

Replacement of CAPN3 gene via AAV-mediated gene therapy resulted in significant, robust improvements in functional outcomes and muscle physiology in the preclinical model. LGMDs are a rare form of muscular dystrophy for which there is no treatment. As a heterogenous group caused by a number of mutations, the complexity of classification makes the disease challenging…

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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
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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The 5,000 Babies Project: Screening Newborns for Early Diagnosis of Developmental Delay
The 5,000 Babies Project: Screening Newborns for Early Diagnosis of Developmental Delay 150 150 Lauren Dembeck

Democratizing health care requires equal access to early identification of infant neurodevelopmental disorders.  Delayed diagnosis of disorders that involve developmental delays, such as cerebral palsy, can lead to lifelong disability. Yet not all families have access to health care facilities employing highly trained specialists who can test for these developmental delays. Infants from minority families…

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Unique Approach Helps Child Neurology Residents Improve Communication Skills
Unique Approach Helps Child Neurology Residents Improve Communication Skills 150 150 Natalie Wilson

More than 75% of residents said the opportunity to receive direct feedback from standardized patients, faculty and peers during simulated patient encounters was a valuable addition to their medical education. Teaching residents how to be sensitive, supportive, clear and thorough as they communicate complex information to patients and families is an essential part of medical…

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Understanding the Social Neural Network
Understanding the Social Neural Network 1024 575 Natalie Wilson
Young boy turned sideways in front of a dark background, with dark lighting and an illustration of his brain appearing in front of the side of his head

Neuroimaging of participants with and without epilepsy allows researchers to explore the neural networks associated with social skills. Epilepsy is a chronic brain disease characterized by neural network dysfunction and seizures. According to the Centers for Disease Control (CDC), 470,000 children in the United States had active epilepsy in 2015. These children are more likely…

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Long-Term Treatment of Pediatric Chronic Inflammatory Demyelinating Polyneuropathy with Pulse Oral Corticosteroid Therapy
Long-Term Treatment of Pediatric Chronic Inflammatory Demyelinating Polyneuropathy with Pulse Oral Corticosteroid Therapy 150 150 JoAnna Pendergrass, DVM

Pediatric patients with chronic inflammatory demyelinating polyneuropathy can benefit from the safety and effectiveness of long-term pulse oral corticosteroid therapy. Chronic inflammatory demyelinating polyneuropathy (CIDP) affects the peripheral nervous system in children, causing weakness, sensory loss and depressed tendon reflexes. Pediatric patients with this rare, immune-mediated disease often undergo years of immunomodulatory therapy, with the…

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Natural Progression of Duchenne Muscular Dystrophy for Boys Taking Long-Term Steroid Therapy
Natural Progression of Duchenne Muscular Dystrophy for Boys Taking Long-Term Steroid Therapy 1024 575 Mary Bates, PhD
boy with muscular dystrophy completing walk test

New data define expected motor performance at different ages and will help in clinical trial design and interpretation. Duchenne muscular dystrophy (DMD) is a devastating diagnosis, but there are many potential treatments in various stages of development. Clinical trials now target boys with DMD who are 4-8 years old, as it appears that early intervention…

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Batten Disease Experts Publish Common Key Practices For Enzyme Replacement Therapy
Batten Disease Experts Publish Common Key Practices For Enzyme Replacement Therapy 1024 683 Lauren Dembeck

Neuronal ceroid lipofuscinosis type 2 disease is a rare, rapidly-progressing, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. This form of Batten disease has an onset between two to four years of age. Children with CLN2 disease may experience intractable epilepsy, progressive cognitive and motor decline, and loss of vision. Historically, most children…

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How Have Respiratory Outcomes Changed With New Spinal Muscular Atrophy Treatments?
How Have Respiratory Outcomes Changed With New Spinal Muscular Atrophy Treatments? 1024 575 Mary Bates, PhD
Illustration of lungs on blue silhouette of upper chest on black background

Three new therapies are changing the prognosis for spinal muscular atrophy, but long-term monitoring of respiratory outcomes is still necessary.

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Intractable Epilepsy Linked to Brain-Specific Genetic Mutation
Intractable Epilepsy Linked to Brain-Specific Genetic Mutation 1024 794 Lauren Dembeck

DNA replication errors during development are revealed by genomic study. As part of an ongoing, collaborative study between neurologists and genomics experts at Nationwide Children’s Hospital, researchers have identified somatic mosaicism in the resected brain tissues of a child with treatment-resistant, intractable epilepsy. One of the two genetically distinct cell populations identified carries a pathogenic…

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Cardiomyopathy in Mothers of Boys With Muscular Dystrophy
Cardiomyopathy in Mothers of Boys With Muscular Dystrophy 1024 670 Mary Bates, PhD

Female carriers of the genetic defect that causes muscular dystrophy in boys show evidence of cardiac fibrosis. An interdisciplinary team from Nationwide Children’s Hospital reports about half of women who carry the genetic defect responsible for muscular dystrophy show evidence of cardiac fibrosis. The study, published in the International Journal of Cardiology, suggests that cardiac muscle,…

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An Expanded, Multicenter Look at Gene Therapy for Spinal Muscular Atrophy
An Expanded, Multicenter Look at Gene Therapy for Spinal Muscular Atrophy 1024 575 Mary Bates, PhD
Colorful illustration of gene therapy in action

New study confirms safety and efficacy in children under two years old. In May 2019, the U.S. Food and Drug Administration (FDA) approved a gene replacement therapy for the inherited, progressive neuromuscular disease 5q-linked spinal muscular atrophy (SMA). Approval included all children with SMA under the age of two years; however, the gene therapy had only been…

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Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children With Duchenne Muscular Dystrophy
Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children With Duchenne Muscular Dystrophy 150 150 Abbie Roth

One-year data from the first four patients to receive a single dose of the rAAVrh74.MHCK7.micro-dystrophin gene therapy is published in JAMA Neurology. Researchers from Nationwide Children’s Hospital have published in JAMA Neurology results from the first four patients treated in the first clinical trial of systemic delivery of micro-dystrophin gene therapy in children with Duchenne muscular dystrophy…

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Optimized Neurophysiologic Intraoperative Monitoring Provides Real-Time Clinical and Diagnostic Benefits in Patients With Polyneuropathy
Optimized Neurophysiologic Intraoperative Monitoring Provides Real-Time Clinical and Diagnostic Benefits in Patients With Polyneuropathy 1024 683 JoAnna Pendergrass, DVM

New study reports that optimizing NIOM parameters can provide actionable, real-time data to protect the nervous system during surgery and facilitate diagnosis of previously unrecognized polyneuropathies. Neurophysiologic intraoperative monitoring (NIOM) provides a multimodal approach to evaluating the nervous system’s functional integrity. Components of NIOM include sensory evoked potentials (SEP), which monitor the dorsal column sensory…

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A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old
A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old 1024 575 Abbie Roth
boy with muscular dystrophy completing walk test

A prospective, multicenter study following 153 boys younger than 6 years old documents disease progression of Duchenne muscular dystrophy. Duchenne muscular dystrophy is the most common inherited neuromuscular disorder that affects all races and ethnicities. It affects males, occurring in 1/3,600 live-born infant boys. While some affected newborns may have mild hypotonia, other symptoms are rarely…

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Brain Characteristics Associated with Epilepsy and Internalizing Disorders
Brain Characteristics Associated with Epilepsy and Internalizing Disorders 1024 575 Mary Bates, PhD

Diffuse alterations in brain structure and function are seen in youth with epilepsy and symptoms of anxiety or depression. Internalizing disorders, such as depression and anxiety, are common in patients with epilepsy. Specific brain characteristics – structural changes in the hippocampus and amygdala as well as some differences in structure and function of more frontal…

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Targeting Cardiac-Related Strokes in Infants
Targeting Cardiac-Related Strokes in Infants 150 150 Mary Bates, PhD

New study describes risk factors for stroke in children with cardiac disease. Advances in surgical techniques and intensive care management have led to an increase in the number of infants surviving with cardiac disease. Unfortunately, children with cardiac disease are at higher risk for experiencing an arterial ischemic stroke. Now, a new study points to…

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When Should Preoperative Neuromonitoring for Adolescent Idiopathic Scoliosis Be Used?
When Should Preoperative Neuromonitoring for Adolescent Idiopathic Scoliosis Be Used? 150 150 Abbie Roth

Study leads researchers to recommend against routine use of preoperative SSEP/TMS testing in cases of AIS requiring corrective surgery. Adolescent idiopathic scoliosis (AIS) is a coronal curvature of the spine that affects 1 to 3% of adolescents. Of these, a very small percentage – at most 0.5% – progress to the point of needing surgical…

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Study Identifies Barriers High Schools Face When Implementing and Enforcing State Concussion Laws
Study Identifies Barriers High Schools Face When Implementing and Enforcing State Concussion Laws 150 150 Laura Dattner

All 50 U.S. states enacted concussion laws between 2009-2014 to mitigate the consequences of concussion. While details of the laws vary from state to state, all state laws address three main factors: concussion education; removal from play after suspected concussion; and return-to-play requirements. A new study conducted by researchers at the Center for Injury Research and…

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Unique Course Trains Young Physicians and Researchers in Muscle Disorders and Therapies
Unique Course Trains Young Physicians and Researchers in Muscle Disorders and Therapies 150 150 Kevin Mayhood

The annual myology course is designed to train the next generation of clinicians and lab scientists in the basics and the latest. Every year, more than 60 young trainees come to Nationwide Children’s Hospital for the annual Myology Course, an intensive, week-long introduction to muscle biology, disease and therapeutics. Hosted by Nationwide Children’s and The…

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Do Seizure Action Plans Make a Difference for Patients and Families?
Do Seizure Action Plans Make a Difference for Patients and Families? 150 150 Kevin Mayhood

Families given a written plan were more comfortable with seizure care and missed fewer appointments. Caregivers for children with epilepsy were more likely to bring their children to regularly scheduled clinic visits if they had previously been given a printed seizure action plan tailored to help them understand their child’s condition, manage it at home…

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Nation’s First Clinical Trial for Pediatric Stroke Rehabilitation
Nation’s First Clinical Trial for Pediatric Stroke Rehabilitation 1024 575 Mary Bates, PhD
Toddler playing with toys

A novel movement-based therapy is being evaluated in infants who suffered a stroke as newborns or in the womb. Nationwide Children’s Hospital is participating in the nation’s first multicenter pediatric stroke recovery trial. The Phase III clinical trial, called I-ACQUIRE, will evaluate an innovative therapy to increase motor skills in 8-month-old to 24-month-old infants who…

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Study Finds No Correlation Between Brain Function and Head Impacts After Two Seasons of Youth Tackle Football
Study Finds No Correlation Between Brain Function and Head Impacts After Two Seasons of Youth Tackle Football 150 150 Abbie Roth

In a prospective study of children playing tackle football, researchers find minimal changes in neurocognitive outcomes – and any changes were not correlated to number or severity of head impacts. Many parents, potential players and medical providers are increasingly wary of youth contact sports participation. The concern over the potential short- and long-term effects of…

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Collaboration Key in Recent Advances for Batten Disease
Collaboration Key in Recent Advances for Batten Disease 1024 683 Abbie Roth

Batten disease (neuronal ceroid lipofuscinosis) is a collection of lysosomal storage disorders caused by a variety of genetic mutations. These disorders cause an accumulation of cellular “trash” to build up, ultimately causing the neurons to die. So far, scientists have identified 13 different versions of Batten disease, each with its own associated genetic mutation. Each version…

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Concussion is Associated With a 2x Higher Risk of Suicide
Concussion is Associated With a 2x Higher Risk of Suicide 150 150 Jeb Phillips
DNA Variations Associated With Prolonged Walking in Duchenne Muscular Dystrophy
DNA Variations Associated With Prolonged Walking in Duchenne Muscular Dystrophy 1024 575 Kevin Mayhood
boy with muscular dystrophy completing walk test

Genome-wide association study identifies two variants that may yield therapies for children with DMD. Researchers at Nationwide Children’s have found that two DNA variants that play a role in gene regulation are associated with prolonged ability to walk in boys with Duchenne muscular dystrophy (DMD). Kevin Flanigan, MD, director of the Center for Gene Therapy,…

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Wishes Help Keep Pediatric Patients Out of the Hospital
Wishes Help Keep Pediatric Patients Out of the Hospital 150 150 Gina Bericchia

Cimone Stills, 15, has a medical condition that has caused her to have multiple seizures a day for most of her life. Specifically, she has treatment-resistant generalized epilepsy because of a genetic variation. Like many patients with such a serious illness, it affects her daily life and as a result, she was diagnosed with clinical…

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The Changing Medical and Legal Landscape for Cannabidiol
The Changing Medical and Legal Landscape for Cannabidiol 150 150 Jeb Phillips
Cumulative Subconcussive Impacts in a Single Season of Youth Football Not Associated With Declines in Neurocognitive Measures
Cumulative Subconcussive Impacts in a Single Season of Youth Football Not Associated With Declines in Neurocognitive Measures 1024 575 Abbie Roth

In an investigation of head impact burden and change in neurocognitive function during a season of youth football, researchers find that sub-concussive impacts are not correlated with worsening performance in neurocognitive function. Each year, more than 3 million children in primary and high school play tackle football in the United States. Growing concern about the…

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Preclinical Gene Therapy Study Shows Muscle Restoration in Charcot-Marie-Tooth Disease Model
Preclinical Gene Therapy Study Shows Muscle Restoration in Charcot-Marie-Tooth Disease Model 150 150 Kevin Mayhood

Tests of NT-3 gene therapy on mouse models suggest potential to treat a host of muscle-wasting conditions.

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Cannabis-Derived Treatment Can Significantly Reduce Seizures in Hard-To-Treat Childhood Epilepsy
Cannabis-Derived Treatment Can Significantly Reduce Seizures in Hard-To-Treat Childhood Epilepsy 150 150 Jeb Phillips

A new study shows that cannabidiol is effective in children with Lennox-Gastaut syndrome. Children with Lennox-Gastaut syndrome can have hundreds of brief seizures every day. This complex form of epilepsy often does not respond to conventional epilepsy medication, leaving children at serious risk of injury from their seizures, or confined to wheelchairs and beds. An international…

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Can Gene Therapy Treat Dominantly Inherited Disorders?
Can Gene Therapy Treat Dominantly Inherited Disorders? 1024 575 Abbie Roth
Colorful illustration of gene therapy in action

Recent applications of adeno-associated virus (AAV) mediated gene therapy have focused mainly on correcting recessively inherited diseases. But what about dominantly inherited disorders? It looks like AAV could be a delivery mechanism for treating those genetic disorders, too. Most applications of AAV-mediated gene therapy research are in recessively inherited rare diseases. The affected individuals have…

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FDA APPROVAL: Gene Therapy Comes of Age
FDA APPROVAL: Gene Therapy Comes of Age 1024 575 Abbie Roth
Colorful illustration of gene therapy in action

UPDATED: May 2019 On May 24, 2019, the FDA approved Zolgensma (formerly AVXS-101), a first-of-its-kind gene therapy for spinal muscular atrophy. In the 13 months that have passed since this article first posted, the long-term outcomes of gene therapy for spinal muscular atrophy (SMA) have continued to bolster the community’s hope for the treatments. Now,…

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