Neurology Commons^™

Prevalence And Aetiology Of Cerebral Palsy Among Nigerian Children: A Systematic Review And Meta-Analysis., Udochukwu Michael Diala, Aderonke O. Uhunmwangho-Courage, Fatima Abdullahi, Paul Ikhurionan, Caitlin Bakker, Duke Appiah, David Danjuma Shwe, Rose N. Gelineau-Morel, Kabiru Gurama, Olugbenga Akinyemi Ofakunrin, Angela Mcgillivray, Gabriel E. Ofovwe, Tina Slusher

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BACKGROUND: Nigeria is among the leading countries contributing to the burden of cerebral palsy. Cerebral palsy (CP) is the commonest physical disability in childhood, accounting for 16.2% of child neurology referrals. Many cases of CP are preventable with simple interventions such as neonatal resuscitation and effective phototherapy. Lack of reliable data on the burden of disease limits comprehensive national policy directed to the prevention, holistic care and rehabilitation of patients with cerebral palsy in Nigeria. Therefore, to effectively address this problem, this study aimed to describe the pooled prevalence of CP in Nigeria, its potential causes and types.

METHODS: This …

American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy., Daniel Freedman, Ifeoluwa Babatunde, Rebecca L. Morgan, Renad Abu-Sawwa, Dara Albert, Mandana Behbahani, Kevin Chapman, Erin Day Fecske, William Davis Gaillard, Monika Jones, Mary Anne Meskis, Leah Schust Myers, Kim Nye, Chima Oluigbo, Heidi H. Pfeifer, Reneé A. Shellhaas, Lindsey Thompson, Howard L. Weiner, Courtney J. Wusthoff, Elissa Yozawitz

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This practice guideline from the American Epilepsy Society provides evidence-based recommendations for pharmacological, dietary, and surgical therapies for epilepsy for infants and children from 1 month of age to < 36 months. The multidisciplinary panel updated an existing systematic review, which was funded by the Patient-Centered Outcomes Research Institute and conducted by ECRI (formerly the Emergency Care Research Institute) on behalf of the Agency for Healthcare Research and Quality. The updated review used the same search strategy, inclusion/exclusion criteria, and Grading of Recommendations Assessment, Development and Education methodology, and added studies from August 2021 through September 2025 that were not in the original systematic review. As with the previous review, West syndrome and infantile spasms were excluded from this guideline, as existing treatment guidance is already available for infantile epileptic spasms. While many of the recommendations are conditional due to low certainty of evidence, the panel made two strong recommendations: (1) hemispherectomy/hemispherotomy surgery is recommended for infants and children < 36 months of age with drug resistant epilepsy secondary to select underlying lesional pathologies, including but not limited to hemimegaloencephaly, Rasmussen's encephalitis, Sturge-Weber syndrome, perinatal stroke, and hemispheric cortical dysplasia; and (2) intralobar, multilobar, or focal resections or posterior disconnections for drug-resistant focal or lesional epilepsy in this same age range. A treatment algorithm was developed based on evidence and expert opinion as part of the guideline to help place pharmacological, dietary, and surgical recommendations in a clinical context. The limited number of studies and low certainty of evidence in this population underscores the need for higher-quality data and etiology-specific treatments. More research is needed to evaluate effective therapies for infants with epilepsy, as well as the impact these therapies have on long-term developmental and mortality outcomes.

The Real-World Evaluation Of Remote Electrical Neuromodulation In Pediatric Migraines: A Preliminary Study., Amit Blumovich, Trevor Gerson, Mark Connelly, Tammie Wingert, Gina Jones

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Background/Objectives: Pediatric migraine disrupts school performance and daily functioning. Concerns about medication overuse and limited efficacy highlight the need for non-pharmacologic treatments. The Nerivio remote electrical neuromodulation (REN) device, which is FDA-cleared for ages 8 and above, was evaluated in this study to assess real-world perceptions among patients in a pediatric neurology clinic. Methods: Patients aged 10-18 years who had used both acute medications and Nerivio completed two structured questionnaires, one reflecting on experiences with acute medication and one reflecting on experiences with acute REN treatment, assessing school and daily functioning, headache control, medication use, satisfaction, and preference. Descriptive statistics …

Cerebral Resistive Indices And Intraventricular Hemorrhage In Premature Neonates < 29 Weeks' Gestation: A Pilot Prospective Cohort Study., Abhinav Pal, Dan Stewart, Kshama Ojha, Vesna Kriss, Craig Ziegler, Hannah Fischer

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BACKGROUND: In extremely preterm newborns, intraventricular hemorrhage (IVH) greatly influences neurodevelopmental outcomes. Preterm newborns who later develop IVH might have altered cerebral blood flow (CBF) as measured by resistive index (RI) on Doppler ultrasound. Knowledge regarding RI in extremely premature infants remains limited.

OBJECTIVE: This pilot prospective cohort study aimed to evaluate the association between early cerebral RI (within the first 36 h of life) and the occurrence of IVH in preterm infants born at <  29 weeks’ gestation.

METHODS: Prospective cohort study in which cranial Doppler was performed in preterm infants <  29 weeks at <  36 h of age and between 5 and 7 days of age. CBF velocities and RI were measured. Clinical and demographic factors were also assessed. Statistical analyses included Pearson’s chi-square exact test, independent

RESULTS: Of the 30 enrolled infants, 27% developed an IVH. RI and …

Gender Trends In Professional Advancement Among Academic Pediatric Neurologists., Juliet K. Knowles, Angela L. Hewitt, Prathyusha Teeyagura, Bren Botzheim, Derek Boothroyd, Ria Pal, Chrisoula Cheronis, Shermila Pia, Rebecca Macrae, Christine Shrock, Taelor Hancock, Rayann Solidum, Jaclyn Peraino, Amy Hill, Laura Owlett, Sara N. Moss, Catherine Tran, Daniel A. Castillo, Mark S. Wainwright, Renée A. Shellhaas, Nomazulu Dlamini, Mustafa Sahin, Rose N. Gelineau-Morel, Joshua L. Bonkowsky

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No abstract provided.

Status Epilepticus Protocol Variation Across Accredited National Association Of Epilepsy Centers Members., Laura K. Lamberta, Melissa Asmar, Megan M. Fredwall, Stephanie M. Ahrens, Shasha Bai, Mariah Eisner, Fred Alexander Lado, Stephan U. Schuele, Dave F. Clarke, Ahmed Abdelmoity, Kathryn A. Davis, Jennifer L. Hopp, Mohamad Z. Koubeissi, Meriem K. Bensalem Owen, Susan T. Herman, Adam P. Ostendorf, Naec Center Director Study Group

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OBJECTIVES: Status epilepticus (SE) is a neurologic emergency that requires urgent recognition and medical management. SE management remains heterogeneous across centers.

METHODS: We analyzed SE treatment protocols from level 3 and level 4 epilepsy centers. Discrete data including stabilization measures, timing of treatment phases, medications, doses, and routes of administration were collected from each protocol and described using frequency for categorical variables and median for continuous variables. The distribution of treatment times and dosing were compared with the AES guideline.

RESULTS: A total of 256 SE treatment protocols were included. Only 66% of SE protocols detailed treatment times. Doses below …

Navigating Transition To Adulthood In Epilepsy Patients: A Multidisciplinary Approach., Yinchen Song, L David Klemens, Hallie Orton, Audrey R. Kennedy, Jana E. Jones, Sucheta Joshi, Meghann Kelly

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The transition from pediatric to adult healthcare systems is a critical yet complex process for individuals with epilepsy, requiring careful attention to both medical and psychosocial aspects. This review highlights best practices and strategies to facilitate effective transitions, focusing on the roles of multidisciplinary teams, communication strategies, shared decision-making, and transition readiness assessment. Key topics include early and ongoing communication, promoting patient autonomy, addressing mental health comorbidities, and implementing transition readiness assessments such as the Epilepsy Transition Readiness Assessment Questionnaire (EpiTRAQ). Additionally, the review evaluates models for transition clinics, emphasizing the importance of sustainability, collaboration, and tailored interventions. By leveraging …

Youtube User Traffic To Paired Epilepsy Education Videos In English And Spanish: Comparative Study., Luna Kimahri Varela, Stephanie Horton, Ahmed Abdelmoity, Jean-Baptist Lepichon, Mark A. Hoffman

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BACKGROUND: Effectively managing epilepsy in children necessitates the active engagement of parents, a factor that is reliant on their understanding of this neurological disorder. Widely available, high-quality, patient-focused, bilingual videos describing topics important for managing epilepsy are limited. YouTube Analytics is a helpful resource for gaining insights into how users of differing backgrounds consume video content.

OBJECTIVE: This study analyzes traffic to paired educational videos of English and Spanish versions of the same content. By examining the use patterns and preferences of individuals seeking information in different languages, we gained valuable insights into how language influences the use of clinical …

Feasibility Of And Experience Using A Portable Mri Scanner In The Neonatal Intensive Care Unit., Maura Sien, Amie L. Robinson, Houchun H. Hu, Christopher R. Nitkin, Ara Hall, Marcie G. Files, Nathan S. Artz, John T. Pitts, Sherwin S. Chan

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OBJECTIVE: A portable, low-field MRI system is now Food and Drug Administration cleared and has been shown to be safe and useful in adult intensive care unit settings. No neonatal studies have been performed. The objective is to assess our preliminary experience and assess feasibility of using the portable MRI system at the bedside in a neonatal intensive care unit (NICU) at a quaternary children's hospital.

STUDY DESIGN: This was a single-site prospective cohort study in neonates ≥2 kg conducted between October and December 2020. All parents provided informed consent. Neonates underwent portable MRI examination in the NICU with support …

The Use Of Virtual Tools In Narrowing The Impact Of Health Disparities In Neurology., Jean-Baptist Lepichon, Stephanie Horton, Omar Abdelmoity, Mark A. Hoffman, Emily Cramer, Nirmeen Kishk, Salah Hamada, Ahmed Abdelmoity

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The concept of Epilepsy Treatment Gap (ETG) refers to the proportion of people with epilepsy who are not being appropriately treated. The ETG in the USA approaches 10%, with historically underserved populations and rural populations disproportionately affected. The ETG in Low-and Middle-Income Countries (LMIC) is reported to be 5-10 times higher than in high-income countries. The growing availability of reliable internet access offers a unique opportunity to provide better care to children and adults with epilepsy. In this paper we explore various telehealth (TH) initiatives that have leveraged the availability of easy and free access to an internet connection in …

Pharmacokinetic Evaluation Of Intravenous Vitamin C: A Classic Pharmacokinetic Study., Ping Chen, Greg Reed, Joyce Jiang, Yaohui Wang, Jean Sunega, Ruochen Dong, Yan Ma, Anna E. Esparham, Ryan Ferrell, Mark Levine, Jeanne Drisko, Qi Chen

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Purpose: Intravenous vitamin C (IVC) is used in a variety of disorders with limited supporting pharmacokinetic data. Herein we report a pharmacokinetic study in healthy volunteers and cancer participants with IVC doses in the range of 1-100 g.

Methods: A pharmacokinetic study was conducted in 21 healthy volunteers and 12 oncology participants. Healthy participants received IVC infusions of 1-100 g; oncology participants received IVC infusions of 25-100 g. Serial blood and complete urine samples were collected pre-infusion and for 24 h post-infusion. Pharmacokinetic parameters were computed using noncompartmental methods. Adverse events were monitored during the study.

Results: In both cohorts, …

Barriers, Access And Management Of Paediatric Epilepsy With Telehealth., Kari Gali, Sucheta Joshi, Sarah Hueneke, Alexis Katzenbach, Linda Radecki, Trisha Calabrese, Linda Fletcher, Cristina Trandafir, Carey Wilson, Monisha Goyal, Courtney J. Wusthoff, Jean-Baptist Lepichon, Rhonda Corvalan, April Golson, Jessica Hardy, Michael Smith, Elizabeth Cook, Joshua L. Bonkowsky

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Access to paediatric neurology care is complex, resulting in significant wait times and negative patient outcomes. The goal of the American Academy of Pediatrics National Coordinating Center for Epilepsy's project, Access Improvement and Management of Epilepsy with Telehealth (AIM-ET), was to identify access and management challenges in the deployment of telehealth technology. AIM-ET organised four paediatric neurology teams to partner with primary-care providers (PCP) and their multidisciplinary teams. Telehealth visits were conducted for paediatric epilepsy patients. A post-visit survey assessed access and satisfaction with the telehealth visit compared to an in-person visit. Pre/post surveys completed by PCPs and neurologists captured …

Lipomatous Infiltration In Tuberous Sclerosis Complex - A Case Series And Literature Review., Mohammed Ilyas, Julio Quezada, Erin K. Opfer

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Diffuse Lipomatosis is a dermatological lesion consisting of a poorly circumscribed, infiltrative overgrowth of mature adipose tissue that usually affects the trunk and the extremities. The lesions in the Tuberous Sclerosis Complex (TSC) are usually hamartomatous in nature, but lesions arising from adipocytes are rare. There are only three previous reports of association of TSC with diffuse lipomatosis. Herein we present a case series of diffuse lipomatosis in three subjects with TSC and proceed to review the literature for any other reported cases. On the basis of the three index cases and identification of three more cases in the literature, …

The Efficacy And Tolerability Of Auto-Stimulation-Vns In Children With Lennox-Gastaut Syndrome., Sherouk A. Abdelmoity, Ayman Abdelmoity, Sean M. Riordan, Christian Kaufman, Jean-Baptist Lepichon, Ahmed Abdelmoity

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OBJECTIVE: Lennox-Gastaut syndrome (LGS) is a severe drug-resistant epilepsy (DRE) of childhood. The Vagus Nerve Stimulator (VNS) is established as a safe and effective treatment for DRE. This study assesses efficacy and tolerability of the auto-stimulation VNS models in pediatric patients with LGS.

METHODS: This is a retrospective chart review of a cohort of pediatric patients (Age 1-18 years old) with LGS implanted with an auto-stimulation VNS model at a single level four pediatric epilepsy center. Patient responder's rate was measured as seizure reduction over baseline and improvements in five quality-of-life measures as reported by the patients and families. Efficacy …

Combined Use Of The Ketogenic Diet And Vagus Nerve Stimulation In Pediatric Drug-Resistant Epilepsy., Ayman Abdelmoity, Jean-Baptist Lepichon, Sherouk A. Abdelmoity, Ashley K. Sherman, Ara Hall, Ahmed Abdelmoity

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Objective: Patients with drug-resistant epilepsy (DRE) pose considerable management challenges for patients, their families, and providers. Both the vagus nerve stimulator (VNS) and the ketogenic diet (KD) have been shown to be safe and effective in treating DRE. Nevertheless, information is lacking regarding treatment with combination of both modalities. This study reports the efficacy and tolerability of combining VNS and KD in a pediatric cohort with intractable epilepsy.

Methods: This is a retrospective review of 33 patients (0-17 years) with DRE treated with VNS and KD at a single pediatric level IV epilepsy center. We compared seizure reduction rates for …

De Novo Variants Of Nr4a2 Are Associated With Neurodevelopmental Disorder And Epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen Van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P C Koeleman

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PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene.

METHODS: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect. Independent discoveries were shared through GeneMatcher.

RESULTS: Missense and loss-of-function variants in NR4A2 were identified in patients from eight unrelated families. One patient carried a larger deletion including adjacent genes. The cases presented with developmental delay, hypotonia (six cases), and epilepsy (six cases). De novo status was …

Polyspike Ictal-Onset Absence Seizures In A Pediatric Patient With Down Syndrome., Sherouk A. Abdelmoity, Mohammed Ilyas

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Polyspike ictal-onset absence seizure has been reported in adult patients with genetic generalized epilepsy but is a novel pattern in the pediatric population. Absence seizures are usually associated with generalized spike-and-wave on EEG. However, we present the case of a 10-year-old girl with Down syndrome and developmental delays who presented with atypical absence seizure associated with an unusual electroencephalographic (EEG) pattern of polyspike ictal-onset. Recognition of this ictal pattern in the pediatric population, as previously reported in adult populations, is important as it can have therapeutic and prognostic implications.

Failure To Thrive - An Overlooked Manifestation Of Kmt2b-Related Dystonia: A Case Presentation., Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose N. Gelineau-Morel, Shimul Chowdhury, Rady Children’S Institute For Genomic Medicine Investigators, Jennifer Friedman

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BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.

CASE PRESENTATION: We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the …

Pathogenic Variants In Kptn Gene Identified By Clinical Whole-Genome Sequencing, Isabelle Thiffault, Andrea Atherton, Bryce Heese, Ahmed Abdelmoity, Kailash Pawar, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E. Soden, Carol J. Saunders

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Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and thus varies from study to study. In this context, effective molecular diagnosis in a pediatric patient with a genetically heterogeneous phenotype is essential. Homozygous or compound heterozygous variants in KPTN have been recently associated with a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. We describe a comprehensive investigation of a 9-yr-old male patient who was admitted to the intensive care …

Musculoskeletal Pain Outcomes Pre- And Post Intrathecal Baclofen Pump Implant In Children With Cerebral Palsy: A Prospective Cohort Study., Chantel C. Barney, Alyssa M. Merbler, Jean Stansbury, Linda E. Krach, Michael D. Partington, Patrick Graupman, Peter D. Kim, Debbie Song, Frank J. Symons

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Objective: To characterize musculoskeletal pain intensity, duration, frequency, and interference with activities of daily living in children with cerebral palsy (CP) before and after intrathecal baclofen pump placement.

Design: Prospective cohort study.

Setting: Children's tertiary hospital.

Participants: Participants were children with CP (N=32; 53% male; mean age, 9.9y; age range, 4-17y). The majority of participants had a CP diagnosis of quadriplegia (76%) and relied on wheeled mobility (91%).

Interventions: Assessments were completed pre- and post intrathecal baclofen pump implant.

Main outcome measures: Because of considerable patient heterogeneity, both pain measures (Brief Pain Inventory, Dalhousie Pain Interview) were completed by proxy …

Rna Sequencing Of Human Peripheral Nerve In Response To Injury: Distinctive Analysis Of The Nerve Repair Pathways., Andrew S. Welleford, Jorge E. Quintero, Nader El Seblani, Eric Blalock, Sumedha Gunewardena, Steven M. Shapiro, Sean M. Riordan, Peter Huettl, Zain Guduru, John A. Stanford, Craig G. Van Horne, Greg A. Gerhardt

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The development of regenerative therapies for central nervous system diseases can likely benefit from an understanding of the peripheral nervous system repair process, particularly in identifying potential gene pathways involved in human nerve repair. This study employed RNA sequencing (RNA-seq) technology to analyze the whole transcriptome profile of the human peripheral nerve in response to an injury. The distal sural nerve was exposed, completely transected, and a 1 to 2 cm section of nerve fascicles was collected for RNA-seq from six participants with Parkinson's disease, ranging in age between 53 and 70 yr. Two weeks after the initial injury, another …

Msto1 Mutations Cause Mtdna Depletion, Manifesting As Muscular Dystrophy With Cerebellar Involvement., S Donkervoort, R Sabouny, P Yun, L Gauquelin, K R Chao, Y Hu, I Al Khatib, A Töpf, P Mohassel, B B Cummings, R Kaur, D Saade, S A Moore, L B Waddell, M A Farrar, J K Goodrich, P Uapinyoying, S H S Chan, A Javed, M E Leach, P Karachunski, J Dalton, L Medne, A Harper, C Thompson, Isabelle Thiffault, S Specht, R E Lamont, Carol J. Saunders, H Racher, F P Bernier, D Mowat, N Witting, J Vissing, R Hanson, Keith A. Coffman, Meagan K. Hainlen, J S Parboosingh, A Carnevale, G Yoon, R E Schnur, Care4rare Canada Consortium, K M Boycott, J K Mah, V Straub, A Reghan Foley, A M Innes, C G Bönnemann, T E Shutt

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MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. While the full genotype-phenotype spectrum remains to be explored, pathogenic variants in MSTO1 have recently been reported in a small number of patients presenting with a phenotype of cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic and pigmentary retinopathy. The proposed underlying pathogenic mechanism of MSTO1-related disease is suggestive of impaired mitochondrial fusion secondary to a loss of function of MSTO1. Disorders of mitochondrial fusion and fission have been shown to also lead to mitochondrial DNA (mtDNA) depletion, linking them to the mtDNA …

Scurvy Presenting With Limp And Weakness: A Case Report., Robin M. Lund, Mara L. Becker, Steven Shapiro, Tyler Allison, Julia G. Harris

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BACKGROUND: Scurvy is one of the oldest diseases known to mankind. Although presently rare in the developed world, scurvy was a common potentially fatal disease. In recent times, the most common risk factors for scurvy include alcoholism, low socioeconomic status, and severely poor nutrition or dietary restriction secondary to psychiatric illness or developmental disorders. Our case demonstrates the importance of having a high index of clinical suspicion of an uncommon disease in developed countries and emphasizes the necessity of a dietary screening that could potentially reduce extensive work-up in patients with nonspecific complaints.

CASE PRESENTATION: We report a case of …

Initiating The Ketogenic Diet In Infants With Treatment Refractory Epilepsy While Maintaining A Breast Milk Diet, Jean-Baptist Lepichon, Lindsey M. Thompson, Megan Gustafson, Ahmed Abdelmoity

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© 2019 The Authors

Purpose: The ketogenic diet has been found to be safe and effective in the treatment of drug resistant epilepsy in childhood. The age range of children undergoing this treatment has steadily been going down. There is strong evidence that it is a safe alternative in infants with drug resistant seizures. The American Academy of Pediatrics strongly supports continuing a breast milk diet until infants are at least six months of age. The purpose of this study is to evaluate the safety and efficacy of the ketogenic diet in infants while maintaining a breast milk diet.

Method: …

Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium

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Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy …

Pediatric Headache Clinic Model: Implementation Of Integrative Therapies In Practice., Anna E. Esparham, Anne Herbert, Emily Pierzchalski, Catherine Tran, Jennifer J. Dilts, Madeline Boorigie, Tammie Wingert, Mark Connelly, Jennifer Bickel

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The demand for integrative medicine has risen in recent years as research has demonstrated the efficacy of such treatments. The public has also become more conscientious of the potential limitations of conventional treatment alone. Because primary headache syndromes are often the culmination of genetics, lifestyle, stress, trauma, and environmental factors, they are best treated with therapies that are equally multifaceted. The Children’s Mercy Hospital, Kansas City, Missouri Headache Clinic has successfully incorporated integrative therapies including nutraceuticals, acupuncture, aromatherapy, biofeedback, relaxation training, hypnosis, psychology services, and lifestyle recommendations for headache management. This paper provides a detailed review of the implementation of …

Therapeutic Effect Of Steroids In Osmotic Demyelination Of Infancy., Lalit R. Bansal

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An 11-month-old male presented with acute gastroenteritis, seizures, and altered mental status. Laboratory workup revealed serum sodium of 177 mmol/L. Magnetic resonance imaging of the brain showed reduced diffusion in the supratentorial white matter, T2 hyperintensities in the left central pons and midbrain, subacute stroke in the right occipital lobe, and bilateral cerebellar hemorrhagic infarcts. The child was presumed to have hypernatremia-induced central pontine and extrapontine myelinolysis. He received 5 days of high-dose methylprednisolone for persistent encephalopathy and spastic quadriparesis with rapid recovery of his cognitive function and neurological examination. The child remained seizure-free and achieved normal development at 3-month …

Short Term Development And Fate Of Mge-Like Neural Progenitor Cells In Jaundiced And Non-Jaundiced Rat Brain., Fu-Chen Yang, Julia Draper, Peter G Smith, Jay L. Vivian, Steven Shapiro, John A. Stanford

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Neonatal hyperbilirubinemia targets specific brain regions and can lead to kernicterus. One of the most debilitating symptoms of kernicterus is dystonia, which results from bilirubin toxicity to the globus pallidus (GP). Stem cell transplantation into the GP to replace lost neurons and restore basal ganglia circuits function is a potential therapeutic strategy to treat dystonia in kernicterus. In this study we transplanted human medial ganglionic eminence (MGE)-like neural progenitor cells (NPCs) that we differentiated into a primarily gamma-aminobutyric acid (GABA)ergic phenotype, into the GP of non-immunosuppressed jaundiced (jj) and non-jaundiced (Nj) rats. We assessed the survival and development of graft …

Acute Bilirubin Encephalopathy And Its Progression To Kernicterus: Current Perspectives, Fatima Usman, Udochukwu Michael Diala, Steven Shapiro, Jean-Baptist Lepichon, Tina M. Slusher

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Acute bilirubin encephalopathy (ABE) remains a significant cause of morbidity and mortality throughout the world, especially in low-middle-income countries where it can account for up to 15% of neonatal death. The pathophysiology of this acute life-threatening event of infancy and its potential evolution to kernicterus remain poorly understood. In this review, we start by reviewing the terminology of hyperbilirubinemia and its clinical consequences, ABE and later kernicterus spectrum disorder (KSD). We then review the pathogenesis of ABE and discuss clinical factors that can contribute to its pathogenicity. We examine in detail the clinical correlates of ABE and KSD. We present …

Current Approaches And New Developments In The Pharmacological Management Of Tourette Syndrome., Julio Quezada, Keith A. Coffman

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Tourette syndrome (TS) is a neurodevelopmental disorder of unknown etiology characterized by spontaneous, involuntary movements and vocalizations called tics. Once thought to be rare, TS affects 0.3-1% of the population. Tics can cause physical discomfort, emotional distress, social difficulties, and can interfere with education and desired activities. The pharmacologic treatment of TS is particularly challenging, as currently the genetics, neurophysiology, and neuropathology of this disorder are still largely unknown. However, clinical experience gained from treating TS has helped us better understand its pathogenesis and, as a result, derive treatment options. The strongest data exist for the antipsychotic agents, both typical …