Nervous System Diseases Commons^™

Power Training Improves The Sensorimotor Cortical Oscillations In Youth With Cerebral Palsy, Morgan Busboom, Anna Reelfs, Mike Trevarrow, Brad Corr, Heidi Reelfs, Sarah Baker, Hannah Bergwell, Tony W. Wilson, Max J. Kurz

Child Health Research Institute Pediatric Research Forum

Background: Our magnetoencephalographic (MEG) brain imaging studies have shown that youth with cerebral palsy (CP) demonstrate altered sensorimotor beta (18-24Hz) cortical oscillations when controlling their leg motor actions and these anomalous cortical oscillations are linked with the extent of their mobility impairments. Current therapeutic trends for improving mobility have shifted from strength training to high-velocity power training, which has shown improvements in isokinetic strength, power production and mobility of youth with CP. However, no studies have assessed whether these clinically relevant improvements are linked with changes in the sensorimotor cortical oscillations. The objective of this study was to utilize MEG …

Autism: A Deep Insight, Hemaila Tariq, Muhammad Yusuf Hafiz

Medical College Documents

No abstract provided.

A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson

Department of Paediatrics and Child Health

Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …

The Influence Of Coronavirus Disease-2019 (Covid-19) On Parkinson’S Disease: An Updated Systematic Review, Vikash Jaiswal, Danah Alquraish, Zouina Sarfraz, Azza Sarfraz, Shavy Nagpal, Prakriti Singh Shrestha, Dattatreya Mukherjee, Prathima Guntipalli, Diana F. Sánchez Velazco, Arushee Bhatnagar

Department of Paediatrics and Child Health

Background: COVID-19 has affected global communities with multiple neurological complications in addition to other critical medical issues. COVID-19 binds to the host's angiotensin-converting enzyme 2 (ACE2) receptors, which are expressed in the neurons and glial cells, acting as an entry port to the central nervous system (CNS). ACE2 receptors are abundantly expressed on dopamine neurons, which may worsen the prognosis of motor symptoms in Parkinson's disease (PD). SARS-CoV-2 may lead to an indirect response via immune-mediated cytokine storms and propagate through the CNS leading to damage. In this systematic review, we aim to provide thorough analyses of associations between COVID-19 …

Efficacy And Safety Of Abobotulinumtoxina For Upper Limb Spasticity In Children With Cerebral Palsy: A Randomized Repeat-Treatment Study, Mauricio R. Delgado, Ann Tilton, Jorge Carranzo-Del Rio, Nigar Dursun, Marcin Bonikowski, Resa Aydin, Iwona Maciag-Tymecka, Joyce Oleszek, Edward Dabrowski, Anne-Sophie Grandoulier, Philippe Picaut, The Dysport In Pul Study Group

School of Medicine Faculty Publications

Aim: To assess the efficacy and safety of repeat abobotulinumtoxinA injections in reducing upper limb spasticity in children with cerebral palsy (CP). Method: This was a double-blind, repeat-cycle study (NCT02106351) in children with CP (2–17y). Children were randomized to receive 2U/kg (control), 8U/kg, or 16U/kg abobotulinumtoxinA injections into the target muscle group (wrist or elbow flexors) and additional muscles alongside occupational therapy via a home-exercise therapy program (HETP; minimum five 15min sessions/wk). Children received 8U/kg or 16U/kg plus HETP in cycles 2 to 4. Results: During cycle 1, 210 children (126 males, 84 females; mean age [SD] 9y [4y 5mo], …

Management Practices For West Syndrome In South Asia: A Survey Study And Meta-Analysis, Priyanka Madaan, Prem Chand, Kyaw Linn, Jithangi Wanigasinghe, Mimi Lhamu Mynak, Prakash Poudel, Raili Riikonen, Amit Kumar, Pooja Dhir, Sandeep Negi, Jitendra Kumar Sahu

Department of Paediatrics and Child Health

Objectives: Considering the dearth of literature on West syndrome (WS) from South Asian countries, this study aimed to evaluate the management practices in South Asia by an online survey and meta-analysis.
Methods: An online questionnaire was sent to 223 pediatric neurologists/pediatricians in India, Pakistan, Myanmar, Sri Lanka, Bhutan, Nepal, and Bangladesh. Their responses were evaluated and supplemented by a meta-analysis.
Results: Of 125 responses received (response rate: 56%), around 60% of responders observed male preponderance and an approximate lead-time-to-treatment (LTTT) of 4-12 weeks. The commonest etiology observed was a static structural insult (88.6% of responders). Most commonly used first-line drug …

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

Manuscripts, Articles, Book Chapters and Other Papers

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 …

Management Of Childhood Migraine By Headache Specialist Versus Non-Headache Specialists, Kelly Valentini, Radhika Gutta, Gunjanpreet Kaur, Ahmad Farooqi, Lalitha Sivaswamy

Medical Student Research Symposium

This study aims to compare the management practices of a headache specialist with non-headache specialists in the treatment of pediatric migraine. The use of appropriate rescue medications and prophylactic agents, application of neuro-imaging, and short-term outcomes are compared in children treated by the two groups of physicians. A retrospective cohort study was conducted utilizing the electronic medical records of children 3-18 years of age with migraine, who were evaluated at a tertiary care children’s hospital from 2016-2018. Of the 849 patients that met the study criteria, 469 were classified as having chronic migraine or high-frequency episodic migraine and were followed …

Concussion, Anthony Shadiack

Sports Medicine

No abstract provided.

A Ten-Year Retrospective Evaluation Of Acute Flaccid Myelitis At 5 Pediatric Centers In The United States, 2005-2014., Margaret M. Cortese, Anita K. Kambhampati, Jennifer E. Schuster, Zaid Alhinai, Gary R. Nelson, Gloria J. Guzman Perez-Carrillo, Arastoo Vossough, Michael A. Smit, Robert C. Mckinstry, Timothy Zinkus, Kevin R. Moore, Jeffrey M. Rogg, Meghan S. Candee, James J. Sejvar, Sarah E. Hopkins

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Acute flaccid myelitis (AFM) is a severe illness similar to paralytic poliomyelitis. It is unclear how frequently AFM occurred in U.S. children after poliovirus elimination. In 2014, an AFM cluster was identified in Colorado, prompting passive US surveillance that yielded 120 AFM cases of unconfirmed etiology. Subsequently, increased reports were received in 2016 and 2018. To help inform investigations on causality of the recent AFM outbreaks, our objective was to determine how frequently AFM had occurred before 2014, and if 2014 cases had different characteristics.

METHODS: We conducted a retrospective study covering 2005-2014 at 5 pediatric centers in 3 …

Comparing Open And Fetoscopic Fetal Surgical Repairs Of Myelomeningocele, Kyra Isaacs

Capstone Showcase

Introduction: There have been great advances in the treatment of myelomeningocele (MMC) spina bifida in the past 20 years. An open surgical repair in-utero has been shown to reduce mortality and morbidity, specifically decreasing the rate of shunt placement and hindbrain herniation compared to a postnatal surgical approach. However, this surgery introduced risks to the mother that were never a consideration in previous surgical approaches.

Methods: This paper compares research on new minimally invasive fetoscopic surgical techniques to open fetal surgery in the prenatal repair of MMC. Searches in PubMed and Clinical Key were conducted to produce papers published on …

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

Manuscripts, Articles, Book Chapters and Other Papers

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 …

Neuroblastoma In Adolescents And Children Older Than 10 Years: Unusual Clinicopathologic And Biologic Features, Laura Mccarthy, Katherine Chastain, Terrie Flatt, Eugenio Taboada, Robert E. Garola, John Herriges, Linda D. Cooley, Atif Ahmed

Posters

This poster describes four cases of neuroblastoma diagnosed since 2008 in children greater than 10 years and presents their clinical, histologic and biologic features, emphasizing unusual clinicopathologic characteristics and the role of DNA microarray analysis and Next Generation Sequencing in their management.

Early Identification Of Depression In Patients With Pediatric Epilepsy, Erin Fecske, Paul Glasier, Lines Vargas Collado, Elizabeth Rende

Posters

Describes the use of the Neurological Disorders Depression Inventory-Epilepsy-Youth (NDDI-E-Y) in adolescent patients in a comprehensive epilepsy center to identify patients who need referral for mental health care.

Amygdala Corticofugal Input Shapes Mitral Cell Responses In The Accessory Olfactory Bulb, Livio Oboti, Eleonora Russo, Tuyen Tran, Daniel Durstewitz, Joshua G. Corbin

Pediatrics Faculty Publications

Interconnections between the olfactory bulb and the amygdala are a major pathway for triggering strong behavioral responses to a variety of odorants. However, while this broad mapping has been established, the patterns of amygdala feedback connectivity and the influence on olfactory circuitry remain unknown. Here, using a combination of neuronal tracing approaches, we dissect the connectivity of a cortical amygdala [posteromedial cortical nucleus (PmCo)] feedback circuit innervating the mouse accessory olfactory bulb. Optogenetic activation of PmCo feedback mainly results in feedforward mitral cell (MC) inhibition through direct excitation of GABAergic granule cells. In addition, LED-driven activity of corticofugal afferents increases …

Quality Improvement: Implementing A Foot Exam To Improve Care For Patients With Diabetes Mellitus, Emily Paprocki, Ryan Mcdonough, Tiffany Musick, Joseph Cernich

Posters

No abstract provided.

Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer

DePaul Discoveries

Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of the …

Use Of The Ketogenic Diet In The Neonatal Intensive Care Unit-Safety And Tolerability., Lindsey M. Thompson, Erin Day Fecske, Mohammad Salim, Ara Hall

Manuscripts, Articles, Book Chapters and Other Papers

Drug-resistant epilepsy poses a challenge in neonatal patients, especially those in the neonatal intensive care unit (NICU), who have various secondary comorbidities. We present results of four children with a history of drug-resistant epilepsy for whom a ketogenic diet was initiated and used in the NICU. A nonfasting induction into ketosis over 1-2 weeks was utilized, with gradual increases in the ketogenic ratio every 2-3 days. Data were collected retrospectively from a database, which included medical history, daily progress notes, relevant laboratory data, and imaging and diagnostic information. The ketogenic diet was well tolerated in all cases. The most common …

Distinct Neural Bases Of Disruptive Behavior And Autism Symptom Severity In Boys With Autism Spectrum Disorder., Y.J. Daniel Yang, Denis G Sukhodolsky, Jiedi Lei, Eran Dayan, Kevin A. Pelphrey, Pamela Ventola

Pediatrics Faculty Publications

BACKGROUND: Disruptive behavior in autism spectrum disorder (ASD) is an important clinical problem, but its neural basis remains poorly understood. The current research aims to better understand the neural underpinnings of disruptive behavior in ASD, while addressing whether the neural basis is shared with or separable from that of core ASD symptoms.

METHODS: Participants consisted of 48 male children and adolescents: 31 ASD (7 had high disruptive behavior) and 17 typically developing (TD) controls, well-matched on sex, age, and IQ. For ASD participants, autism symptom severity, disruptive behavior, anxiety symptoms, and ADHD symptoms were measured. All participants were scanned while …

High Levels Of Iron Supplementation Prevents Neural Tube Defects In The Fpn1(Ffe) Mouse Model., Bethany A Stokes, Julia A Sabatino, Irene E. Zohn

Pediatrics Faculty Publications

BACKGROUND: Periconception maternal nutrition and folate in particular are important factors influencing the incidence of neural tube defects (NTDs). Many but not all NTDs are prevented by folic acid supplementation and there is a pressing need for additional strategies to prevent these birth defects. Other micronutrients such as iron are potential candidates, yet a clear role for iron deficiency in contributing to NTDs is lacking. Our previous studies with the flatiron (ffe) mouse model of Ferroportin1 (Fpn1) deficiency suggest that iron is required for neural tube closure and forebrain development raising the possibility that iron supplementation could prevent NTDs.

METHODS: …

The Clinical Outcome Study For Dysferlinopathy, Elizabeth Harris, Catherine Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Avital Cnaan, The Jain Cos Consortium

Pediatrics Faculty Publications

Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.

Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.

Results: There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi …

Ketogenic Diet Decreases Emergency Room Visits And Hospitalizations Related To Epilepsy., Husam R. Kayyali, Anastasia Luniova, Ahmed Abdelmoity

Manuscripts, Articles, Book Chapters and Other Papers

Background. Approximately, one-third of patients with epilepsy are refractory to pharmacological treatment which mandates extensive medical care and imposes significant economic burden on patients and their societies. This study intends to assess the impact of the treatment with ketogenic diet (KD) on reducing seizure-related emergency room visits and hospitalizations in children with refractory epilepsy. Methods. This is a retrospective review of children treated with the KD in one tertiary center. We compared a 12 months' period prior to KD with 12 months after the diet was started in regard to the number of emergency department (ED) visits, hospitalizations, …

Diagnosis, Treatment And Follow-Up In Four Children With Biotinidase Deficiency From Pakistan, Bushra Afroze, Mohammad Wasay

Department of Medicine

Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical symptoms of biotinidase deficiency and responded dramatically to oral biotin within days to weeks. Biotinidase deficiency is reported in Pakistani children from different part of world, however; there is no such report from Pakistan. This highlights lack of awareness of biotinidase deficiency among physicians in Pakistan

Biotinidase Deficiency In Pakistani Children; What Needs To Be Known And Done, Bushra Afroze, Mohammad Wasay

Department of Medicine

No abstract provided.

A Novel And Generalizable Organotypic Slice Platform To Evaluate Stem Cell Potential For Targeting Pediatric Brain Tumors., Shengwen Calvin Li, William Gunter Loudon

Department of Cancer Biology Faculty Papers

Brain tumors are now the leading cause of cancer-related deaths in children under age 15. Malignant gliomas are, for all practical purposes, incurable and new therapeutic approaches are desperately needed. One emerging strategy is to use the tumor tracking capacity inherent in many stem cell populations to deliver therapeutic agents to the brain cancer cells. Current limitations of the stem cell therapy strategy include that stem cells are treated as a single entity and lack of uniform technology is adopted for selection of clinically relevant sub-populations of stem cells. Specifically, therapeutic success relies on the selection of a clinically competent …

Botulinum Toxin Type-A In The Management Of Cerebral Palsy: Low Or High Dose?, Alper I. Dai, Mohammad Wasay

Department of Medicine

Cerebral palsy is the most common cause of severe physical disability in childhood. Spasticity is a common and disabling symptom for many patients with cerebral palsy. Therapy for spasticity is symptomatic with the aim of increasing functional capacity and relieving discomfort. Spasticity treatment by orally administered drugs and intramuscular chemodenervation agents has become more frequent. Most oral medications to treat spasticity have been inadequately studied in children, especially those with cerebral palsy. Since its first use in pediatric patients, reported in 1993, botulinum toxin (BTX-A), a relatively recent addition to the available medical interventions for children with cerebral palsy, has …