Close
Enter your
text here

Neurology

Selective Dorsal Rhizotomy for Cerebral Palsy: Significant Gains in Mobility and Reduction in Spasticity Treatments
 Selective Dorsal Rhizotomy for Cerebral Palsy: Significant Gains in Mobility and Reduction in Spasticity Treatments 928 1024 Erin Gregory
By: Erin Gregory

Recent research shows that selective dorsal rhizotomy (SDR) significantly boosts motor function in children with cerebral palsy (CP), particularly those who are ambulatory. The study highlights motor improvements and a reduced need for spasticity treatments, emphasizing SDR’s potential to enhance outcomes and quality of life for children with CP. Key Findings: Improvements in Motor Function…

Optimizing Outpatient Epilepsy Care With Digital Seizure Action Plans
 Optimizing Outpatient Epilepsy Care With Digital Seizure Action Plans 1024 683 Pam Georgiana
By: Pam Georgiana

Customized seizure action plans enhance care and family use. Many schools and caregivers require families of children with epilepsy to provide a written seizure action plan (SAP) signed by their primary care provider. The Epilepsy Foundation provides a printable PDF form to fill out, print and sign. However, the form is limited in providing space…

Advancing Predictive Models in Pediatric Traumatic Brain Injury
 Advancing Predictive Models in Pediatric Traumatic Brain Injury 1024 683 Erin Gregory
By: Erin Gregory

Traumatic brain injury (TBI) is the leading cause of disability and mortality among children, causing thousands of deaths each year. Despite tools such as the Glasgow Outcomes Scale (GOS) and the Pediatric Glasgow Coma Scale (PGCS), reliable methods for predicting mortality during initial trauma resuscitation are limited. In a recent study, Katherine Bergus, MD, general…

New Study Demonstrates Potential for a Gene Therapy for Vanishing White Matter Disease
 New Study Demonstrates Potential for a Gene Therapy for Vanishing White Matter Disease 1024 552 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

The research, conducted in mouse models, shows promising safety and efficacy for a currently incurable, life-limiting condition. Researchers at Nationwide Children’s Hospital have confirmed initial safety and efficacy data for a gene supplementation therapy for Vanishing White Matter (VWM) disease in mouse models. Testing multiple versions of therapy in two separate mouse models representing different…

Optimizing Prenatal and Neonatal Care for Infants With Treatable Rare Diseases
 Optimizing Prenatal and Neonatal Care for Infants With Treatable Rare Diseases 1024 619 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

As new treatments emerge and diagnostics improve, earlier interventions offer infants with rare metabolic and neurodegenerative conditions a future wildly different than ever before. Not long ago, a diagnosis of molybdenum cofactor deficiency (MoCD) type A meant death before kindergarten. Since the FDA approval of NULIBRY® (fosdenopterin) in 2021, however, children diagnosed with MoCD type…

Accelerating Advances in Epilepsy Surgery
 Accelerating Advances in Epilepsy Surgery 1024 683 Abbie Miller
By: Abbie Miller

One program is bringing together clinical care, surgery and research to create a brighter future for children with intractable epilepsy. Childhood-onset epilepsy affects 1% of children worldwide. Up to a third of patients with epilepsy will have medically refractory epilepsy, continuing to have seizures despite using two or more antiseizure medications. Options for this group…

What Pulmonologists Need to Know About Respiratory Insufficiency in Neuromuscular Disease
 What Pulmonologists Need to Know About Respiratory Insufficiency in Neuromuscular Disease 600 400 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

The RIND Study Group has released new consensus criteria to proactively identify hypoventilation in children with neuromuscular diseases. Recently released consensus criteria from an expert panel of pediatric pulmonologists and sleep specialists define and provide diagnosis guidance surrounding respiratory insufficiency in neuromuscular disease (RIND). The results from the 15-member RIND Study Group’s Delphi study, published…

Adolescents With Concussion May Benefit from More Cognitive Activity as Early as the First Week After Injury
 Adolescents With Concussion May Benefit from More Cognitive Activity as Early as the First Week After Injury 1024 575 Laura Dattner
By: Laura Dattner

A new study shows limiting screen time and returning to school early following a concussion may hasten recovery timelines. In a study published in British Journal of Sports Medicine, researchers with the Center for Injury Research and Policy, Division of Sports Medicine, Center for Biobehavioral Health, and Division of Emergency Medicine at Nationwide Children’s Hospital evaluated…

Neurorehabilitation for Children With Batten Disease
 Neurorehabilitation for Children With Batten Disease 1024 683 Lauren Dembeck
By: Lauren Dembeck

Therapy should be tailored to each child’s needs. Batten disease comprises a rare group of related genetic disorders characterized by progressive neurodegeneration. The disease primarily presents in childhood as seizures, vision loss, and developmental regression. Neurorehabilitation services, including physical therapy (PT), occupational therapy (OT), and speech-language pathology therapy (SLP), can delay loss of function and…

Meet Toni Pearson, MD: Pediatric Movement Disorders Expert
 Meet Toni Pearson, MD: Pediatric Movement Disorders Expert 150 150 Pam Georgiana
By: Pam Georgiana

Toni S. Pearson, MD, joined Nationwide Children’s in 2022 as an attending pediatric neurologist and professor of pediatrics at The Ohio State University College of Medicine. She specializes in childhood movement disorders, such as dystonia, chorea, parkinsonism, ataxia, myoclonus, tremors, tics, and spasticity. Dr. Pearson is also developing a fellowship training program for a new…

Kids With Concussions Need Specialized Assessment and Care
 Kids With Concussions Need Specialized Assessment and Care 1024 683 Sean Rose, MD
By: Sean Rose, MD

Learn why cutting-edge care and research specifically for children matters. The 2020 National Health Interview Survey reported that 6.8% of children experience symptoms of a concussion or brain injury in their lifetime. However, only 3.9% had received a diagnosis or treatment of a concussion or brain injury from a health care provider. The Concussion Center…

Innovative Gene Therapy Approach for Treating Patients with Tuberous Sclerosis Type 2
 Innovative Gene Therapy Approach for Treating Patients with Tuberous Sclerosis Type 2 150 150 Lauren Dembeck
By: Lauren Dembeck

Tuberous sclerosis complex (TSC) is a devastating genetic disease that affects nearly 1 in every 5,500 newborns and approximately 2 million people worldwide. The disease is characterized by the formation of non-malignant tumors throughout multiple organs, including the kidney, lungs, eyes, and heart, but predominantly the brain. It is typically diagnosed in infants and young…

Novel Cause of Brain Mosaicism and Focal Epilepsy Identified
 Novel Cause of Brain Mosaicism and Focal Epilepsy Identified 1024 575 Abbie Miller
By: Abbie Miller

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…

FDA Approves Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy
 FDA Approves Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy 1024 632 Abbie Miller
By: Abbie Miller

On June 22, 2023, the FDA announced accelerated approval for SRP-9001/ELEVIDYS for Duchenne muscular dystrophy (DMD) following decades of research in the Center for Gene Therapy at Nationwide Children’s Hospital. The FDA approved the treatment for pediatric patients 4-5 years old with DMD. Jerry Mendell, MD, principal investigator in the Center for Gene Therapy at…

Does Etiology Impact Outcomes After Hemispherectomy?
 Does Etiology Impact Outcomes After Hemispherectomy? 1024 575 Jessica Nye, PhD
By: Jessica Nye, PhD

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…

Deep Brain Stimulation Ameliorates Symptoms of Genetic Movement Disorder
 Deep Brain Stimulation Ameliorates Symptoms of Genetic Movement Disorder 150 150 Mary Bates, PhD
By: Mary Bates, PhD

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…

Micro-dystrophin: A Small Gene With Big Promise
 Micro-dystrophin: A Small Gene With Big Promise 1024 632 Abbie Miller
By: Abbie Miller

SRP-9001 for Duchenne muscular dystrophy supplies a functional dystrophin gene via AAVrh74 gene therapy. In 1969, Jerry Mendell, MD, was working at the National Institute of Neurological Disorders and Stroke (NINDS) when he saw his first patient with Duchenne muscular dystrophy (DMD). DMD, a severe form of muscular dystrophy caused by a mutation in the…

Featured Researcher — Eric Nelson, PhD
 Featured Researcher — Eric Nelson, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Eric Nelson, PhD, is a principal investigator in the Center for Biobehavioral Health in the Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital. His work centers around how the brain develops, particularly during adolescence, as well as how it changes (or doesn’t) during periods of mental health symptoms, crises or therapeutic interventions. He collaborates…

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
By: Jessica Nye, PhD

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…

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
By: Lauren Dembeck

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.…

New Guidelines for Care of Children With Cerebral Palsy
 New Guidelines for Care of Children With Cerebral Palsy 1024 683 Abbie Miller
By: Abbie Miller
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…

Exploring the Complex Immune Microenvironment of Rasmussen Encephalitis
 Exploring the Complex Immune Microenvironment of Rasmussen Encephalitis 1024 587 Lauren Dembeck
By: Lauren Dembeck

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…

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
By: JoAnna Pendergrass, DVM

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…

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
By: Natalie Wilson

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…

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
By: Lauren Dembeck

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…

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
By: 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…

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
By: 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…

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

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
By: 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,…

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
By: 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.…

COVID-19 and Neurologic Manifestations in Children
 COVID-19 and Neurologic Manifestations in Children 1024 512 Marlina Lovett, MD
By: 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…

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

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
By: 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…

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
By: 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…

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 Miller
By: Abbie Miller
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…

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
By: 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…

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
By: 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…

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
By: 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…

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 Miller
By: Abbie Miller

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…

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
By: 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…

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
By: 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…

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

Understanding the Social Neural Network
 Understanding the Social Neural Network 1024 575 Natalie Wilson
By: 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…

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
By: 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…

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
By: 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…

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
By: 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…

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
By: 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.

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

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

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
By: 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…

  • 1
  • 2