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Neurology

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…

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 Miller
By: Abbie Miller

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…

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
By: 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…

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 Miller
By: Abbie Miller
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…

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

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

When Should Preoperative Neuromonitoring for Adolescent Idiopathic Scoliosis Be Used?
 When Should Preoperative Neuromonitoring for Adolescent Idiopathic Scoliosis Be Used? 150 150 Abbie Miller
By: Abbie Miller

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…

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
By: 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…

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
By: 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…

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
By: 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…

Nation’s First Clinical Trial for Pediatric Stroke Rehabilitation
 Nation’s First Clinical Trial for Pediatric Stroke Rehabilitation 1024 575 Mary Bates, PhD
By: 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…

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 Miller
By: Abbie Miller

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…

Collaboration Key in Recent Advances for Batten Disease
 Collaboration Key in Recent Advances for Batten Disease 1024 683 Abbie Miller
By: Abbie Miller

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…

Endocrinology Considerations in Duchenne Muscular Dystrophy
 Endocrinology Considerations in Duchenne Muscular Dystrophy 150 150 Jeb Phillips
By: Jeb Phillips

Concussion is Associated With a 2x Higher Risk of Suicide
 Concussion is Associated With a 2x Higher Risk of Suicide 150 150 Jeb Phillips
By: 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
By: 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,…

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

Enzyme Treatment Slows Decline in Common Form of Batten Disease
 Enzyme Treatment Slows Decline in Common Form of Batten Disease 150 150 Kevin Mayhood
By: Kevin Mayhood

The Changing Medical and Legal Landscape for Cannabidiol
 The Changing Medical and Legal Landscape for Cannabidiol 150 150 Jeb Phillips
By: 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 Miller
By: Abbie Miller

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…

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
By: Kevin Mayhood

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

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
By: 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…

Can Gene Therapy Treat Dominantly Inherited Disorders?
 Can Gene Therapy Treat Dominantly Inherited Disorders? 1024 575 Abbie Miller
By: Abbie Miller
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…

FDA APPROVAL: Gene Therapy Comes of Age
 FDA APPROVAL: Gene Therapy Comes of Age 1024 575 Abbie Miller
By: Abbie Miller
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,…

Phase 1 Study Shows Promise of Gene Replacement Therapy for Spinal Muscular Atrophy Type 1
 Phase 1 Study Shows Promise of Gene Replacement Therapy for Spinal Muscular Atrophy Type 1 1024 575 Abbie Miller
By: Abbie Miller

The phase 1 clinical study shows that gene therapy extends survival of patients and supports achievement of milestones previously unseen in the natural course of the disease. A one-time intravenous infusion of the high dose of gene therapy extended the survival of patients with spinal muscular atrophy type 1 (SMA1), according to a study published in…

Cannabidiol May Reduce Drug-Resistant Seizures by Half
 Cannabidiol May Reduce Drug-Resistant Seizures by Half 150 150 Brianne Moore
By: Brianne Moore

Two studies demonstrate clinically significant response to oral liquid cannabidiol over placebo. Two recent studies – one published in The New England Journal of Medicine and one presented at the 2017 American Academy of Neurology annual meeting – indicate that a new plant-based, cannabis-derived treatment may be able to decrease the incidence of seizures in two complex…

Different Patterns of Executive Function Deficits in Different Pediatric Brain Disorders
 Different Patterns of Executive Function Deficits in Different Pediatric Brain Disorders 150 150 Mary Bates, PhD
By: Mary Bates, PhD

Clinical implications include specialized testing for deficits in executive function as these may not be apparent at a routine exam. A large group of researchers, including many from Nationwide Children’s Hospital, recently looked at whether children with different brain disorders show diverse patterns of strengths and weaknesses in executive functions. Children with traumatic brain injuries…

In Extremely Preterm Babies, SNAP-II Score Predicts Brain Impairments at Age 10
 In Extremely Preterm Babies, SNAP-II Score Predicts Brain Impairments at Age 10 150 150 Kevin Mayhood
By: Kevin Mayhood

Measures taken in first 12 hours of life are associated with a host of deficits. Children born extremely preterm are known to be at increased risk of neurodevelopmental impairments, but not all babies born the same early date and weight are equal. Researchers have found that for children born at less than 28 weeks, a…

New App Enables Families and Researchers to Track Seizures With an Apple Watch
 New App Enables Families and Researchers to Track Seizures With an Apple Watch 150 150 Gina Bericchia
By: Gina Bericchia

Could a wearable app help children with seizures? With the launch of the Track It! app for Apple Watch, that’s what researchers at Nationwide Children’s Hospital are hoping to find out. Nationwide Children’s Hospital and SeizureTracker.com recently introduced a new wearable app to help track seizures called Track It!, which free to download for the Apple Watch in the…

In Sight: Two Stage Surgery for Epilepsy
 In Sight: Two Stage Surgery for Epilepsy 150 150 Abbie Miller
By: Abbie Miller

Surgery proves to be a viable option for patients with medically refractory epilepsy. Childhood onset epilepsy affects 1 percent of children worldwide. About 25 to 30 percent of these patients will have medically refractory epilepsy, continuing to have seizures despite using two or more antiseizure medications. Options for this group of patients include intercranial epilepsy surgery, Vagus…

Minimally-Invasive Technology Proving Itself in Epilepsy Procedures
 Minimally-Invasive Technology Proving Itself in Epilepsy Procedures 150 150 Kevin Mayhood
By: Kevin Mayhood

MRI-guided stereotactic laser ablation may become the option of choice for appropriate patients. MRI-guided stereotactic laser ablation is proving comparable to open surgery in several procedures aimed at controlling epilepsy, researchers report. Importantly, patients’ recovery is considerably easier and shorter than recuperation from traditional surgeries, and while thorough studies are needed, early results indicate fewer…

Oligodendrocytes Induce Motor Neuron Death in ALS
 Oligodendrocytes Induce Motor Neuron Death in ALS 150 150 Jeb Phillips
By: Jeb Phillips

A first-of-its-kind oligodendrocyte in vitro model shows that human cells normally supportive of motor neuron function play an active role in amyotrophic lateral sclerosis pathogenesis – and this discovery may point the way toward therapeutic timing and targets. A number of studies over the last decade have shown that cells which normally support motor neurons,…

Often-Unreported MRI Finding May Indicate Neurodevelopmental Impairment in Premature Infants
 Often-Unreported MRI Finding May Indicate Neurodevelopmental Impairment in Premature Infants 150 150 Jeb Phillips
By: Jeb Phillips

Moderate-to-severe gyral maturation delay emerged as a significant predictor of overall neurodevelopmental delay in premature infants with extremely low birth weights Magnetic resonance imaging of the brain is increasingly used to predict neurodevelopmental outcomes in premature infants, but the existing systems of scoring those MRIs rely heavily on expert opinion. A recent study led by…

Neurologists Urged to Consider MCA When Evaluations Don’t Support Claims
 Neurologists Urged to Consider MCA When Evaluations Don’t Support Claims 150 150 Kevin Mayhood
By: Kevin Mayhood

Up to half of medical child abuse cases include neurological symptoms Medical child abuse (MCA) is highly variable, but neurologists are in a position to help detect up to half of these cases, researchers at Nationwide Children’s Hospital report. Consistent with the authors’ clinical experience, studies estimate that abusive caregivers make up, exaggerate or induce…

Infantile Spasms Respond Poorly to Common First-Line Treatment
 Infantile Spasms Respond Poorly to Common First-Line Treatment 150 150 Jeb Phillips
By: Jeb Phillips

Researchers recommend other initial treatments after finding that topiramate has a low rate of infantile spasms remission. The early and effective treatment of infantile spasms has been associated with better developmental outcomes for patients, while delayed remission of the infantile spasms may contribute to poorer outcomes. In fact, a U.S. Consensus Report on infantile spasms…

Common Infections Associated With Childhood Stroke
 Common Infections Associated With Childhood Stroke 150 150 Kevin Mayhood
By: Kevin Mayhood

Routine vaccinations appear to be protective. Minor infections, including the common cold, appear to trigger arterial ischemic stroke (AIS) in children, an international study shows. At the same time, a full or nearly full regimen of childhood immunizations appears to be protective in children. The research, published in the journal Neurology, also indicates long-suspected cold medicines don’t…

Genetic Testing for Pediatric Epilepsy Can Be Complicated but Beneficial
 Genetic Testing for Pediatric Epilepsy Can Be Complicated but Beneficial 150 150 Gina Bericchia
By: Gina Bericchia

Application of genetic testing in pediatric epilepsy requires understanding of the advantages and limitations of testing modalities 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…

Talking to Adolescent Patients About Marijuana
 Talking to Adolescent Patients About Marijuana 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

With legalization spreading across the United States, it’s hard to know what to say to teens curious about marijuana. Legal in 23 states and the District of Columbia. Renowned in pop culture. Affectionately called everything from “wacky tobaccy” to “hippie lettuce.” Marijuana isn’t going away. Despite its popularity and availability, many youths — and clinicians…

Do You Believe in Integrated Health Care?
 Do You Believe in Integrated Health Care? 150 150 Miguel Saps, MD
By: Miguel Saps, MD

Patients are more than a segregated set of organ systems. Treating them as whole beings requires the practice of integrated medicine. I believe in an integrated approach to health care. The care of patients is often envisioned as fractionated, with different specialists taking care of different organs or organ systems — a model that I…

Orphan Disease Seeks Parents, Funding
 Orphan Disease Seeks Parents, Funding 1024 575 Kevin Mayhood
By: Kevin Mayhood
Color photo, family portrait of Reagan, a young girl with an orphan disease, her parents, and their dog

Research on rare pediatric diseases often remains underfunded and obscure until motivated families give scientists — and their own children — a much-needed shot at potential therapies worthy of federal funding. Reagan McGee’s pediatrician couldn’t figure out why she had cold after cold. Her parents, Karin and Peter McGee, took her to an ear, nose and…

Illuminating Vasospasm in Children with Traumatic Brain Injury
 Illuminating Vasospasm in Children with Traumatic Brain Injury 150 150 Jan Arthur
By: Jan Arthur

Understanding reasons for dangerous vessel constriction following brain injury may help define treatment or prevention options. Vasospasm, or severe narrowing of blood vessels, is a dangerous complication observed in children with moderate to severe traumatic brain injury. In a paper recently published in Critical Care Medicine, investigators at Nationwide Children’s Hospital have further defined the prevalence,…

Stressed Out: Toxic Stress and Child Brain Development
 Stressed Out: Toxic Stress and Child Brain Development 150 150 Dave Ghose
By: Dave Ghose

Stress, in small doses, can be good for children. When they argue with another child over a toy or attend a new school or daycare, the experience can teach them valuable coping skills. Even a more intense event, such as the death of a loved one or a frightening accident, can be beneficial developmentally with…

An Unwelcome Blast from the Past: Vitamin K Deficiency Bleeding
 An Unwelcome Blast from the Past: Vitamin K Deficiency Bleeding 150 150 Kelli Whitlock Burton
By: Kelli Whitlock Burton

Most pediatric specialists who began practicing medicine in the mid-1960s have probably never seen a case of vitamin K deficiency bleeding. Robert Sidonio, MD, had seen just one, and that was during his fellowship. And then, in February 2013, an infant came in to the emergency room with bleeding in the brain, one of the most…

Evolution of an Atlas
 Evolution of an Atlas 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Adult brain atlases have existed for years. Why is it so crucial — and so difficult — to build one for preemies? Even experts need maps. They give perspective, scale and orientation. They can show both current location and the final destination. And in the world of premature brains, they can offer vital information about…

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