5,665 results match your criteria Journal of Child Neurology[Journal]


Corrigendum.

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J Child Neurol 2019 May 27;34(6):NP1. Epub 2018 Nov 27.

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http://dx.doi.org/10.1177/0883073818814111DOI Listing

Global Health Education in Child Neurology and Neurodevelopmental Disabilities Training Programs in the United States: A National Survey.

J Child Neurol 2019 Apr 9:883073819837466. Epub 2019 Apr 9.

1 Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Texas Children's Hospital / Baylor College of Medicine, Houston, TX, USA.

Objectives: To describe the current landscape of opportunities and education in global health among child neurology and neurodevelopmental disabilities training programs and provide a framework for future development of global health education.

Methods: Authors surveyed Trainee and Program Director groups, obtaining information regarding global health interest, participation and obstacles (trainees); and collaborations in global health, academic yield and obstacles, and global health educational development within the training program (program directors).

Results: Of identified trainees and program directors, 35% and 48% responded, respectively. Read More

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April 2019
1 Read

Clinical, Neuroimaging, and Electrographic Predictors of Phenobarbital Failure in Newborns With Hypoxic Ischemic Encephalopathy and Seizures.

J Child Neurol 2019 Apr 9:883073819838171. Epub 2019 Apr 9.

2 Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Background: Many neonates with hypoxic ischemic encephalopathy and seizures do not respond to the first line antiepileptic drug, phenobarbital. Little is known about what factors are associated with its failure.

Objective: To examine factors associated with failure of phenobarbital therapy in neonates with hypoxic ischemic encephalopathy and seizures. Read More

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http://dx.doi.org/10.1177/0883073819838171DOI Listing
April 2019
1 Read
1.666 Impact Factor

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

J Child Neurol 2019 Apr 9:883073819840449. Epub 2019 Apr 9.

8 Adelaide Medical School & Robinson Research Institute, University of Adelaide, Adelaide, Australia.

High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. Read More

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http://dx.doi.org/10.1177/0883073819840449DOI Listing
April 2019
2 Reads

Etiology and Age Modifies Subjective Visual Function After Cerebral Hemispherectomy.

J Child Neurol 2019 Apr 7:883073819834430. Epub 2019 Apr 7.

1 Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA, USA.

Background: Cerebral hemispherectomy is typically used to treat patients with pharmacoresistant epilepsy. Visual-related outcomes are relatively unstudied in this population, aside from the knowledge that patients develop a complete homonymous hemianopia contralateral to the side of the hemispherectomy. The purpose of this study was to determine and characterize parent-reported functional visual, oculomotor, and postural changes in a large population of patients following cerebral hemispherectomy. Read More

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April 2019
1 Read

Factors Influencing Time to Diagnosis in Childhood Narcolepsy Type 1.

J Child Neurol 2019 Mar 27:883073819836548. Epub 2019 Mar 27.

1 School of Medicine, University of Glasgow, Glasgow, UK.

Objective:: To study the variables impacting on time from symptom onset to diagnosis in childhood narcolepsy, including presence of cataplexy, onset in infancy, administration of the H1N1 Pandemrix vaccine, and date of diagnosis following the H1N1 pandemic.

Design:: A retrospective cohort study of 42 children seen in a single tertiary pediatric neurology center between 1996 and 2016.

Key Results:: Onset of symptoms of narcolepsy occurred between infancy and 15 years, with 92. Read More

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http://dx.doi.org/10.1177/0883073819836548DOI Listing
March 2019
8 Reads

Evaluation of the Effects of Clobazam on Seizure Control and Quality of Life in Children With Lennox-Gastaut Syndrome: A Pilot Study.

J Child Neurol 2019 Mar 27:883073819836534. Epub 2019 Mar 27.

2 Department of Neurology, Jacobs School of Medicine at the University at Buffalo, Buffalo, NY, USA.

Purpose:: This is a prospective study of children with Lennox-Gastaut syndrome receiving clobazam as adjunctive therapy. This pilot study aims to examine medication effectiveness as it relates to seizure reduction, as well as improvement in parent-reported behavior and quality of life (QOL).

Methods:: Ten patients with Lennox-Gastaut syndrome aged 3-11 years were enrolled in this 6-week, 4 phase study. Read More

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http://dx.doi.org/10.1177/0883073819836534DOI Listing
March 2019
9 Reads

Perampanel Pharmacokinetics in Children: Correlation of Dose With Serum Concentrations.

J Child Neurol 2019 Mar 25:883073819837465. Epub 2019 Mar 25.

2 Le Bonheur Children's Hospital Neuroscience Institute, Memphis, TN, USA.

Enzyme-inducing antiseizure drugs taken concomitantly with perampanel are known to influence perampanel serum concentrations. In this study, we examined perampanel dosage, serum concentrations, and the effect of concomitant enzyme-inducing antiseizure drugs in children for a 3-year period. A retrospective chart review determined patient age, weight, perampanel serum concentration and prescribed dose, and concomitant drugs. Read More

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http://dx.doi.org/10.1177/0883073819837465DOI Listing

Current Practice of Therapeutic Hypothermia for Mild Hypoxic Ischemic Encephalopathy.

J Child Neurol 2019 Mar 22:883073819828625. Epub 2019 Mar 22.

1 Department of Neonatology, Princess Margaret and King Edward Hospitals, Perth, Australia.

Context:: Therapeutic hypothermia is the recommended treatment for neonates with moderate or severe hypoxic ischemic encephalopathy (HIE). There is an increasing trend to use therapeutic hypothermia even in infants with mild hypoxic ischemic encephalopathy, even though there is little evidence to support/refute this.

Objective:: To estimate the incidences of mild hypoxic ischemic encephalopathy among infants who received therapeutic hypothermia, and its short- and long-term outcomes. Read More

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http://dx.doi.org/10.1177/0883073819828625DOI Listing
March 2019
4 Reads

Gliomatosis Cerebri Among Children and Adolescents: An Individual-Patient Data Meta-analysis of 182 Patients.

J Child Neurol 2019 Mar 19:883073819836551. Epub 2019 Mar 19.

1 Department of Hygiene, Epidemiology and Medical Statistics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Background:: Gliomatosis cerebri is a rare but fatal widespread infiltrating central nervous system tumor. We aimed to describe diagnostic and prognostic features of gliomatosis cerebri among children and adolescents.

Methods:: We conducted a systematic literature review for published case reports and case series on patients with histologically confirmed gliomatosis cerebri and extracted data on an individual patient level for those aged 0-18 years. Read More

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http://dx.doi.org/10.1177/0883073819836551DOI Listing
March 2019
3 Reads

Sleep Problems in Children With Autism and Other Developmental Disabilities: A Brief Report.

J Child Neurol 2019 Mar 17:883073819836541. Epub 2019 Mar 17.

1 RFK Children's Evaluation and Rehabilitation Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA.

Sleep problems in children with autism and the association with child behavioral problems was studied in an ethnically diverse population, in a cross-sectional study with structured interview. Sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included Child Sleep Habits Questionnaire and Aberrant Behavior Checklist. Read More

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http://dx.doi.org/10.1177/0883073819836541DOI Listing
March 2019
1 Read

When an Early Diagnosis of Autism Spectrum Disorder Resolves, What Remains?

J Child Neurol 2019 Mar 12:883073819834428. Epub 2019 Mar 12.

1 Department of Pediatrics, Rose F. Kennedy Center Children's Evaluation and Rehabilitation Center, Albert Einstein College of Medicine/Montefiore, Bronx, NY, USA.

A chart review was performed of 38 children diagnosed with autism spectrum disorder (ASD) by 3 years of age at an inner-city developmental program who subsequently experienced resolution of ASD symptomatology and no longer met diagnostic criteria for ASD at follow-up an average of 4 years later. Demographic, developmental/cognitive data, Childhood Autism Rating Scale, and Autism Diagnostic Observation Schedule data as available were reviewed from the initial diagnostic evaluation and at the time of follow-up. Services received by the children between the time of diagnosis and follow-up, educational setting at the time of follow-up, and emotional/behavioral and learning diagnoses made by the multidisciplinary team at follow-up were reviewed. Read More

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http://dx.doi.org/10.1177/0883073819834428DOI Listing
March 2019
2 Reads

Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl.

J Child Neurol 2019 Mar 11:883073819833543. Epub 2019 Mar 11.

3 Neurology Division, Department of Pediatrics, Lady Hardinge Medical College (LHMC) and associated Kalawati Saran Children Hospital, New Delhi, India.

Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic features or with combined neurologic and systemic features. The classical presentation is characterized by varied combinations of developmental delay, hypotonia, ataxia, dysmorphism, inverted nipples, and abnormal fat distribution. Read More

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http://journals.sagepub.com/doi/10.1177/0883073819833543
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http://dx.doi.org/10.1177/0883073819833543DOI Listing
March 2019
2 Reads
1.666 Impact Factor

Usefulness of Cerebral Palsy Curves in Mexican Patients: A Cross-Sectional Study.

J Child Neurol 2019 May 11;34(6):332-338. Epub 2019 Mar 11.

2 Genetics Department, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarrra, Tlalpan, Mexico City, Mexico.

Cerebral palsy describes a group of movement and posture disorders that cause activity limitation, and are attributable to nonprogressive disorders that occur in the fetal or infant brain. The growth of these children should not be compared with those of the healthy population. We studied 452 children, 186 female and 266 male. Read More

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http://dx.doi.org/10.1177/0883073819830560DOI Listing
May 2019
5 Reads

Functional Neurologic Symptom Disorder in Children: Clinical Features, Diagnostic Investigations, and Outcomes at a Tertiary Care Children's Hospital.

J Child Neurol 2019 May 28;34(6):325-331. Epub 2019 Feb 28.

1 Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI, USA.

Objective: To describe the presenting symptoms and short-term outcomes of children diagnosed with functional neurologic symptom disorder and to compare the demographic and clinical characteristics of children who received neurodiagnostic testing to those who did not.

Study Design: Single center, retrospective review of 222 children who presented to the emergency department of a children's hospital, and diagnosed with functional neurologic symptom disorder, between 2010 and 2015.

Results: Out of 222 visits (females = 156, African Americans = 130, mean age = 13. Read More

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http://dx.doi.org/10.1177/0883073819830193DOI Listing
May 2019
2 Reads

Botulinum Toxins Type A (Bont-A) in the Management of Lower Limb Spasticity in Children: A Systematic Literature Review and Bayesian Network Meta-analysis.

J Child Neurol 2019 Feb 25:883073819830579. Epub 2019 Feb 25.

4 Ipsen Pharma, Boulogne-Billancourt, France.

Background:: Botulinum neurotoxins type A (BoNT-As) are used in pediatric lower limb spasticity, which affects more than 2.5 million children worldwide. Botulinum neurotoxins type-A improve active function and delay musculoskeletal complications. Read More

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http://dx.doi.org/10.1177/0883073819830579DOI Listing
February 2019
1 Read

A Proof-of-Principle, Case-Control Study to Compensate for Potential Carbohydrates in Liquid Antiseizure Drugs in Children on the Ketogenic Diet.

J Child Neurol 2019 Feb 20:883073819831179. Epub 2019 Feb 20.

1 Departments of Pediatrics and Neurology, The Johns Hopkins Hospital, Baltimore, MD, USA.

Introduction:: Since its creation, patients on ketogenic diet are told to avoid liquid medications due to theoretical concerns of "hidden" carbohydrates. However, switching from liquid to tablet formulations can be problematic, especially for infants and young children. We theorized that increasing the daily ketogenic ratio might compensate for liquid antiseizure drug carbohydrates. Read More

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http://dx.doi.org/10.1177/0883073819831179DOI Listing
February 2019
1 Read

Levels of Melatonin in Continuous Spikes and Waves During Sleep.

J Child Neurol 2019 May 14;34(6):309-312. Epub 2019 Feb 14.

1 Department of Pediatric Neurology, School of Medicine, Celal Bayar University, Manisa, Turkey.

Levels of melatonin have been reported before in children with epilepsy, but such has not been reported to date in those with continuous spikes and waves during sleep. The aim of the present study was to assess serum melatonin levels and melatonin circadian rhythm in patients with continuous spikes and waves during sleep and epilepsy. Serum melatonin was measured in 39 children stratified into 3 groups. Read More

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http://dx.doi.org/10.1177/0883073819828580DOI Listing
May 2019
1 Read

Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features.

J Child Neurol 2019 May 14;34(6):321-324. Epub 2019 Feb 14.

1 Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

Stormorken syndrome is a rare genetic disorder (MIM 185070) first reported in 1983 with thrombocytopenia, muscle weakness, asplenia, and miosis caused by a mutation of the stromal interaction molecule 1 ( STIM1) gene. The muscle weakness is caused by a myopathy with tubular aggregate formation. We report a family in which both child and mother presented with proximal muscle weakness and thrombocytopenia. Read More

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http://dx.doi.org/10.1177/0883073819829389DOI Listing

Combined Conventional and Amplitude-Integrated EEG Monitoring in Neonates: A Prospective Study.

J Child Neurol 2019 May 14;34(6):313-320. Epub 2019 Feb 14.

1 Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

Background/objective: Seizure monitoring via amplitude-integrated EEG is standard of care in many neonatal intensive care units; however, conventional EEG is the gold standard for seizure detection. We compared the diagnostic yield of amplitude-integrated EEG interpreted at the bedside, amplitude-integrated EEG interpreted by an expert, and conventional EEG.

Methods: Neonates requiring seizure monitoring received amplitude-integrated EEG and conventional EEG in parallel. Read More

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http://dx.doi.org/10.1177/0883073819829256DOI Listing
May 2019
2 Reads

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.

J Child Neurol 2019 May 13;34(6):339-358. Epub 2019 Feb 13.

1 University of Florida, Departments of Pediatrics, Division of Genetics and Metabolism, Neuroscience and Molecular Genetics & Microbiology, Gainesville, FL, USA.

The leukodystrophies are a group of genetic metabolic diseases characterized by an abnormal development or progressive degeneration of the myelin sheath. The myelin is a complex sheath composed of several macromolecules covering axons as an insulator. Each of the leukodystrophies is caused by mutations in genes encoding enzymes that are involved in myelin production and maintenance. Read More

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http://dx.doi.org/10.1177/0883073819828587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459700PMC
May 2019
2 Reads

Comparing Single-Photon Emission Computed Tomography (SPECT), Electroencephalography (EEG), and Magneto-encephalography (MEG) Seizure Localizations in Pediatric Cases of Laser Ablation.

J Child Neurol 2019 May 12;34(6):303-308. Epub 2019 Feb 12.

3 University of Texas Dell Medical School, Austin, TX, USA.

Intractable epilepsy may have a more severe effect on children in comparison to adults because the motor, sensorial, and cognitive functions of children are still undergoing development. For this same reason, however, children maintain a greater potential for recovery from intractable epilepsy because of the remaining cerebral plasticity. Thus, after 2 unsuccessful antiepileptic medications, surgical intervention is recommended. Read More

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http://dx.doi.org/10.1177/0883073818822353DOI Listing
May 2019
1 Read

Adjunctive Perampanel Oral Suspension in Pediatric Patients From ≥2 to <12 Years of Age With Epilepsy: Pharmacokinetics, Safety, Tolerability, and Efficacy.

J Child Neurol 2019 Apr 10;34(5):284-294. Epub 2019 Feb 10.

12 Formerly: Eisai Neurology Business Group, Eisai Inc., Woodcliff Lake, NJ, USA.

Study 232, an open-label pilot study with an extension phase, evaluated the pharmacokinetics and preliminary safety/tolerability and efficacy of adjunctive perampanel oral suspension (≤0.18 mg/kg/d) in epilepsy patients aged ≥2 to <12 years. Patients were grouped into cohorts 1 (aged ≥7 to <12 years) and 2 (aged ≥2 to <7 years). Read More

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http://dx.doi.org/10.1177/0883073819827407DOI Listing
April 2019
2 Reads

A Novel Treatment Strategy for Severe Guillain-Barré Syndrome: Zipper Method.

J Child Neurol 2019 Apr 29;34(5):277-283. Epub 2019 Jan 29.

4 Pediatric Intensive Care Unit, Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Turkey.

Objective:: Intravenous immunoglobulin and plasma exchange are proven treatments for Guillain-Barré syndrome. Despite these treatments, the prognosis for severe Guillain-Barré syndrome is still not satisfactory. This article seeks for a logical timing for plasma exchange-intravenous immunoglobulin synergy, which may improve outcome in severe Guillain-Barré syndrome requiring mechanical ventilation. Read More

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http://dx.doi.org/10.1177/0883073819826225DOI Listing
April 2019
13 Reads

Pregabalin as Adjunctive Treatment for Focal Onset Seizures in Pediatric Patients: A Randomized Controlled Trial.

J Child Neurol 2019 Apr 27;34(5):248-255. Epub 2019 Jan 27.

7 First Department of Pediatrics, Semmelweis University, Budapest, Hungary.

Efficacy and safety of pregabalin as adjunctive treatment for children (aged 4-16 years) with partial-onset seizures, hereafter termed focal onset seizures for this study, was evaluated. This double-blind, randomized, placebo-controlled, international study had 3 phases: 8-week baseline, 12-week double-blind treatment (2-week dose escalation; 10-week fixed dose), and 1-week taper. Selection criteria included experiencing focal onset seizures and receiving a stable regimen of 1 to 3 antiepileptic drugs. Read More

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http://dx.doi.org/10.1177/0883073818821035DOI Listing
April 2019
4 Reads

Atypical Clinical Presentations of Pediatric Acute Immune-Mediated Polyneuropathy.

J Child Neurol 2019 Apr 23;34(5):268-276. Epub 2019 Jan 23.

2 Institute of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis in children. During the acute phase, the disorder can be life-threatening by involving the respiratory muscles and the autonomic nervous system. Nevertheless, the prognosis is good, and most children achieve full recovery. Read More

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http://journals.sagepub.com/doi/10.1177/0883073818825213
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http://dx.doi.org/10.1177/0883073818825213DOI Listing
April 2019
7 Reads

Pharmacologic Treatments for Sleep Disorders in Children: A Systematic Review.

J Child Neurol 2019 Apr 23;34(5):237-247. Epub 2019 Jan 23.

1 Department of Medical Informatics and Clinical Epidemiology, Pacific Northwest Evidence-based Practice Center, Oregon Health & Science University, Portland, OR, USA.

Sleep problems are common in children, especially those with neurodevelopmental disorders, and can lead to consequences in behavior, functioning, and quality of life. We systematically reviewed the efficacy and harms of pharmacologic treatments for sleep disorders in children and adolescents. We searched MEDLINE, Cochrane library databases, and PsycINFO through June 2018. Read More

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http://dx.doi.org/10.1177/0883073818821030DOI Listing
April 2019
14 Reads

Comparing the Acute Presentation of Sport-Related Concussion in the Pediatric and Adult Populations.

J Child Neurol 2019 Apr 22;34(5):262-267. Epub 2019 Jan 22.

1 The Sports Neurology Clinic, Brighton, MI, USA.

Despite growing research on concussion, there is minimal evidence comparing the acute presentation of concussion between pediatric and adult patients. This cross-sectional study compares injury characteristics, symptoms, and neurologic examination in sport-related concussion based on age. Patients presenting to an outpatient sports neurology clinic for initial assessment of concussion within 7 days of injury were divided into 2 groups, 18 and older (n = 28) and 17 and younger (n = 107). Read More

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http://dx.doi.org/10.1177/0883073818825031DOI Listing
April 2019
5 Reads

Trouble Falling Asleep After Concussion Is Associated With Higher Symptom Burden Among Children and Adolescents.

J Child Neurol 2019 Apr 22;34(5):256-261. Epub 2019 Jan 22.

3 The Micheli Center for Sports Injury Prevention, Waltham, MA, USA.

Our objective was to identify factors associated with trouble falling asleep postconcussion. Patients seen for care after sport-related concussion were assessed ≤10 days postinjury and were between 6 and 19 years of age. Outcomes included symptoms (Post-Concussion Symptom Scale), postural steadiness, missed school, and medical history. Read More

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http://dx.doi.org/10.1177/0883073818824000DOI Listing
April 2019
4 Reads

Identifying Factors Associated With Severe Intellectual Disabilities in Teenagers With Cerebral Palsy Using a Predictive Learning Model.

J Child Neurol 2019 Jan 22:883073818822358. Epub 2019 Jan 22.

1 Department of Pediatric Orthopaedic Surgery, Lenval University Pediatric Hospital of Nice, Nice, France.

Background:: Intellectual disability and impaired adaptive functioning are common in children with cerebral palsy, but there is a lack of studies assessing these issues in teenagers with cerebral palsy. Therefore, the aim of this study was to develop and test a predictive machine learning model to identify factors associated with intellectual disability in teenagers with cerebral palsy.

Methods:: This was a multicenter controlled cohort study of 91 teenagers with cerebral palsy (53 males, 38 females; mean age ± SD = 17 ± 1 y; range: 12-18 y). Read More

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http://dx.doi.org/10.1177/0883073818822358DOI Listing
January 2019
3 Reads
1.666 Impact Factor

GABA Transaminase Deficiency With Survival Into Adulthood.

J Child Neurol 2019 Mar 15;34(4):216-220. Epub 2019 Jan 15.

3 Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

γ-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early-onset epileptic encephalopathy plus movement disorder and hypersomnolence with mortality in early childhood. We report 2 affected siblings in adolescence and adulthood, both with profound developmental impairment, intractable epilepsy, movement disorder, and behavioral fluctuations. This considerably expands the phenotype and longevity of this inherited neurotransmitter disease. Read More

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http://dx.doi.org/10.1177/0883073818823359DOI Listing
March 2019
3 Reads

Pattern of Brain Injury Predicts Long-Term Epilepsy Following Neonatal Encephalopathy.

J Child Neurol 2019 Jan 15:883073818822361. Epub 2019 Jan 15.

1 Department of Pediatrics, Neurology, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.

Objective:: To determine if patterns of hypoxic-ischemic brain injury on magnetic resonance imaging (MRI) in term newborns predict subsequent childhood epilepsy. Methods: This retrospective cohort study includes term newborns with encephalopathy (n = 181) born between 2004-2012 and admitted to British Columbia Children's Hospital. MRI was performed between 3 and 5 days of age. Read More

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http://dx.doi.org/10.1177/0883073818822361DOI Listing
January 2019
6 Reads
1.666 Impact Factor

Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy: A Population Survey.

J Child Neurol 2019 Jan 15:883073818822900. Epub 2019 Jan 15.

2 Ersta Sköndal Bräcke University College, Department of Health Care Sciences, Palliative Research Centre, Stockholm, Sweden.

Objective:: This study aims to assess the experiences and wishes of parents of children with severe spinal muscular atrophy regarding information and decision-making throughout the course of the illness.

Study Design:: A full population survey, conducted in 2015, among parents of children with severe spinal muscular atrophy who were born in Denmark between January 1, 2003, and December 31, 2013. We used a study-specific questionnaire with items about experiences and wishes concerning the provision of information about diagnosis, treatment, and end-of-life care. Read More

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http://dx.doi.org/10.1177/0883073818822900DOI Listing
January 2019
2 Reads

The Full Outline of UnResponsiveness (FOUR) Score and Its Use in Outcome Prediction: A Scoping Review of the Pediatric Literature.

J Child Neurol 2019 Jan 10:883073818822359. Epub 2019 Jan 10.

3 Clinician Investigator Program, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada.

The Full Outline of UnResponsiveness (FOUR) score is a neurologic assessment score. Its benefit over pre-existing scores is its evaluation of brainstem reflexes and respiratory pattern. Our goal was to perform a scoping systematic review of the literature on the application of the FOUR score within pediatric patients. Read More

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http://journals.sagepub.com/doi/10.1177/0883073818822359
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http://dx.doi.org/10.1177/0883073818822359DOI Listing
January 2019
16 Reads

Severe Herpes Zoster Following Varicella Vaccination in Immunocompetent Young Children.

J Child Neurol 2019 Jan 10:883073818821498. Epub 2019 Jan 10.

4 Division of Child Neurology, Children's Hospital, University of Iowa, Iowa City, IA, USA.

Varicella vaccination is now virtually universal in North America, as well as in some European and Asian countries. Since varicella vaccine is a live attenuated virus, the virus replicates in the skin after administration and can travel via sensory nerves or viremia to become latent in the dorsal root ganglia. In some immunized children, virus reactivates within a few months to a few years to cause the dermatomal exanthem known as herpes zoster (shingles). Read More

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http://dx.doi.org/10.1177/0883073818821498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376897PMC
January 2019
13 Reads

Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.

J Child Neurol 2019 Jan 4:883073818821036. Epub 2019 Jan 4.

2 Genetic Counseling Program, University of Texas MD Anderson Cancer Center, UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.

Identifying genetic diagnoses for neurologic conditions with a considerable hereditary component, such as autism spectrum disorder, intellectual disability, and epilepsy, is critical to providing proper medical management for patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. Read More

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http://dx.doi.org/10.1177/0883073818821036DOI Listing
January 2019
4 Reads

Long-term Sequelae of Pediatric Bickerstaff Brainstem Encephalitis Includes Autonomic and Sleep Dysregulation.

J Child Neurol 2019 Jan 3:883073818820488. Epub 2019 Jan 3.

1 Division of Child Neurology, Department of Neurology, Stanford University, Palo Alto, CA, USA.

Bickerstaff brainstem encephalitis is a rare, immune-mediated disorder of the brainstem and peripheral nervous system. Published knowledge of pediatric Bickerstaff brainstem encephalitis focuses on the acute phase of the disease process. This study evaluated long-term neurologic and immune sequelae of Bickerstaff brainstem encephalitis in children. Read More

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http://dx.doi.org/10.1177/0883073818820488DOI Listing
January 2019
4 Reads

An Objective Method for Evaluating Next-Generation Sequencing Panels.

J Child Neurol 2018 Dec 20:883073818815036. Epub 2018 Dec 20.

1 Department of Pediatrics, Section of Neurology, University of Colorado Denver, Aurora, CO, USA.

Purpose:: Next-generation sequencing panels are particularly useful in identifying genetic diagnoses in patients with nonspecific clinical findings by allowing for analysis of many genes at once. The purpose of this study was to develop a simple, objective system to evaluate the quality of available next-generation sequencing panels.

Methods:: A list of potentially important features of next-generation sequencing panels generated from the literature was evaluated for accessibility and objectivity and distilled to a "core" set of quality features. Read More

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http://dx.doi.org/10.1177/0883073818815036DOI Listing
December 2018
2 Reads

Headaches in Loyes-Dietz Syndrome.

Authors:
Debopam Samanta

J Child Neurol 2018 Dec 19:883073818815039. Epub 2018 Dec 19.

1 Department of Pediatrics, Neurology Section, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Loeys-Dietz syndrome is a rare connective tissue disorder characterized by cardiovascular, craniofacial, skeletal, and neurocognitive abnormalities. Recurrent headaches may constitute the neurological presentation of Loyes-Dietz syndrome in the absence of an intracranial aneurysm, subarachnoid hemorrhage, or dissection. The etiology of headaches occurring in Loeys-Dietz syndrome can be diverse but underrecognized and underreported. Read More

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http://dx.doi.org/10.1177/0883073818815039DOI Listing
December 2018
12 Reads

Acquisition of Early Developmental Milestones and Need for Special Education Services in Pediatric Multiple Sclerosis.

J Child Neurol 2018 Dec 17:883073818815041. Epub 2018 Dec 17.

19 Pediatric Multiple Sclerosis Center at New York University Langone Medical Center, New York, NY, USA.

Children with pediatric-onset multiple sclerosis and pediatric controls were enrolled across 16 pediatric multiple sclerosis centers in the United States and completed questionnaires that addressed time of first unaided walking and acquisition of 2-word phrases. A total of 467 (308 female) cases and 428 (209 female) controls were enrolled. Pediatric multiple sclerosis (n = 467) were not delayed in walking or using 2-word phrases compared to healthy controls (n = 428) (2. Read More

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http://dx.doi.org/10.1177/0883073818815041DOI Listing
December 2018
16 Reads
1.666 Impact Factor

Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved.

J Child Neurol 2019 Feb 5;34(2):104-112. Epub 2018 Dec 5.

1 Ersta Sköndal Bräcke University College, Department of Health Care Sciences, Palliative Research Centre, Stockholm, Sweden.

Background And Aims:: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory failure. To design a care system adapted to families' needs, more knowledge about parents' experience of care and its coordination between settings is required. This study explores (1) whether parents felt that health professionals took every opportunity to help the child feel as good as possible, (2) parents' satisfaction with various care settings, and (3) parents' satisfaction with coordination between settings. Read More

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http://dx.doi.org/10.1177/0883073818811544DOI Listing
February 2019
9 Reads

HaNDL Syndrome: Case Report and Literature Review.

J Child Neurol 2019 Mar 5;34(3):161-167. Epub 2018 Dec 5.

1 Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA.

Headache and Neurologic Deficits with cerebrospinal fluid Lymphocytosis (HaNDL) syndrome is a rare stroke mimicker characterized by moderate to severe headache temporally associated with transient neurologic deficits, typically hemiparesis, hemisensory disturbance, and/or aphasia. Cerebrospinal fluid studies reveal a lymphocytosis and elevated protein. Episodes recur over a period no longer than 3 months. Read More

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http://dx.doi.org/10.1177/0883073818811546DOI Listing
March 2019
4 Reads

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report.

J Child Neurol 2019 Mar 5;34(3):132-138. Epub 2018 Dec 5.

1 Division of Neurology, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.

Hemimegalencephaly is a hamartomatous malformation of one hemisphere. Functional hemispherectomy, the definitive treatment, is associated with significant morbidity and mortality in early infancy. Dysregulation of the mTOR pathway can result in malformations of cortical development, and mTOR inhibitors can effectively reduce seizures in tuberous sclerosis complex. Read More

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http://dx.doi.org/10.1177/0883073818813238DOI Listing
March 2019
15 Reads

Joint Position Sense Testing in Young Children.

J Child Neurol 2018 Dec 5:883073818812348. Epub 2018 Dec 5.

3 Division of Pediatric Neurology, Department of Pediatrics, Michigan Medicine, Ann Arbor, MI, USA.

The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and determines whether healthy toddlers would cooperate with this test. By placing stickers on children's hands, covering their eyes, and then moving their hands, the examiner can see whether the children reach for where their hands and stickers were previously located or to their new location, which serves as an indicator of proprioception ability. Read More

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http://dx.doi.org/10.1177/0883073818812348DOI Listing
December 2018
4 Reads

Thrombophilia Testing in High Pediatric Migraine Risk Children With Migraine.

J Child Neurol 2018 Nov 28:883073818811545. Epub 2018 Nov 28.

1 Pediatric Headache Clinic, Day Hospitalization Department, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

This study sought to investigate the need for thrombophilia screening in pediatric migraineurs. The cohort included 45/824 children (5.5%) aged 3-18 years with migraine who were tested for thrombophilia at a tertiary pediatric headache clinic. Read More

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http://dx.doi.org/10.1177/0883073818811545DOI Listing
November 2018
8 Reads

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

J Child Neurol 2019 Feb 28;34(2):74-80. Epub 2018 Nov 28.

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.

AIMP1/p43, is a noncatalytic component of the mammalian multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their cognate tRNAs. AIMP1 is largely expressed in the central nervous system, where it is part of the regulatory machine of the neurofilament assembly, playing a crucial role in neuronal development and function. To date, nonsense mutations in AIMP1 have been associated with a primary neurodegenerative disorder consisting of cerebral atrophy, hypomyelination, microcephaly and epilepsy, whereas missense mutations have recently been linked to intellectual disability without neurodegeneration. Read More

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http://dx.doi.org/10.1177/0883073818811223DOI Listing
February 2019
3 Reads

Treatment-Related Costs of Childhood Epilepsy in Mainland China: A Preliminary Study in a Tertiary Pediatric Epilepsy Center.

J Child Neurol 2019 Feb 28;34(2):68-73. Epub 2018 Nov 28.

1 Department of Pediatrics, Peking University First Hospital, Beijing, China.

This study aimed to investigate the treatment-related annual cost of childhood epilepsy and its related factors in mainland China. A total of 244 cases were collected at the outpatient clinics of Peking University First Hospital Pediatrics from April 2010 to August 2013. The median annual epilepsy treatment-related costs per patient were estimated to be RMB7822 (US$1160), accounting for 43. Read More

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http://dx.doi.org/10.1177/0883073818811176DOI Listing
February 2019
2 Reads

Increased Intracranial Pressure in Acute Disseminated Encephalomyelitis.

J Child Neurol 2019 Feb 27;34(2):99-103. Epub 2018 Nov 27.

2 Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel.

Objective:: To assess the intracranial pressure in pediatric acute disseminated encephalomyelitis using spinal tap opening pressure on lumbar puncture, which is routinely performed as part of suspected acute disseminated encephalomyelitis workup. Compared to other cerebrospinal fluid parameters such as cell count, protein concentration, and presence of oligoclonal bands, cerebrospinal fluid opening pressure is infrequently recorded.

Methods:: A retrospective chart review of demographic, clinical, and laboratory data of children diagnosed with acute disseminated encephalomyelitis admitted to a tertiary referral hospital between 2005 and 2016. Read More

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http://dx.doi.org/10.1177/0883073818811541DOI Listing
February 2019
13 Reads

Subclinical Saccadic Eye Movement Dysfunction in Pediatric Multiple Sclerosis.

J Child Neurol 2019 Jan 21;34(1):38-43. Epub 2018 Nov 21.

1 Department of Neurology, University of California San Francisco, San Francisco, CA, USA.

Background:: Efferent visual dysfunction in children could lead to impaired quality of life at home and school. Eye-tracking can detect subtle efferent dysfunction missed on bedside examination but has not been validated in the pediatric multiple sclerosis population.

Objective:: We sought to determine the feasibility of eye-tracking in children and associations with multiple sclerosis. Read More

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http://dx.doi.org/10.1177/0883073818807787DOI Listing
January 2019
27 Reads

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature.

J Child Neurol 2019 Feb 21;34(2):86-93. Epub 2018 Nov 21.

1 Department of Pathology, University of Utah, Salt Lake City, UT, USA.

To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26. Read More

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http://dx.doi.org/10.1177/0883073818811454DOI Listing
February 2019
15 Reads