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Journal of Child Neurology

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https://www.readbyqxmd.com/read/30394826/telemedicine-and-child-neurology
#1
Mark D Lo, Sidney M Gospe
Over the past 2 decades, various telehealth technologies, in particular synchronous video teleconferencing between provider and patient, have been incorporated into the practice of neurology. The practice of child neurology is now starting to take advantage of these rapidly evolving resources. This review describes the evolution of tele-neurology, starting with adult tele-stroke services and expanding to the management of both adults and children with a variety of chronic neurologic disorders including epilepsy, headache, movement disorders, and neurodevelopmental disabilities...
November 5, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30378435/yield-of-emergent-neuroimaging-in-patients-with-sturge-weber-syndrome-presenting-with-acute-neurologic-symptoms
#2
Kristina Jülich, Ilana Neuberger, Mustafa Sahin, Masanori Takeoka, Anna Pinto, Sanjay P Prabhu
BACKGROUND/AIMS: Seizures, strokelike episodes, and headaches are common complications in patients with Sturge-Weber syndrome. Based on our experience, we hypothesized that patients with Sturge-Weber syndrome have frequent urgent neuroimaging studies when presenting acutely to the emergency department. In this study, we aimed to determine the incidence of acute imaging studies in this patient population and to evaluate the prevalence of findings such as acute intracranial hemorrhagic or ischemic strokes...
October 31, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30373442/clinical-features-of-and-risk-factors-for-hydrocephalus-in-childhood-bacterial-meningitis
#3
Liang Huo, Yuying Fan, Chunying Jiang, Jian Gao, Meng Yin, Hua Wang, Fenghua Yang, Qingjun Cao
OBJECTIVE: To explore the clinical characteristics of and analyze the risk factors for hydrocephalus in children with bacterial meningitis. METHODS: Retrospective study of a sample of children with bacterial meningitis seen on the pediatric service of Shengjing Hospital of China Medical University between January 1, 2010, and December 31, 2016. RESULTS: Overall, 9.36% (25/267) of patients presented with hydrocephalus. Among patients with hydrocephalus, the age at onset of bacterial meningitis was usually <6 months, 15 patients had confirmed bacterial etiology, and 1 patient died...
October 29, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30362398/efficacy-of-stiripentol-and-the-clinical-outcome-in-dravet-syndrome
#4
Edibe Pembegul Yıldız, Melis Ulak Ozkan, Tugce Aksu Uzunhan, Gonca Bektaş, Burak Tatlı, Nur Aydınlı, Mine Çalışkan, Meral Özmen
Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol. We retrospectively collected the data of 21 patients (11 females; mean age, 8.2 years, range: 5.4-15 years) with Dravet syndrome who were treated with stiripentol in our outpatient clinic between June 2016 and June 2017. Patients with seizure reduction ≥50% were considered responders...
October 26, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30354845/gait-variability-not-walking-speed-is-related-to-cognition-in-adolescents-with-multiple-sclerosis
#5
Alon Kalron, Anat Achiron, Shay Menascu
Gait variability is associated with cognitive performance in people with central neurologic damage illnesses, which includes multiple sclerosis. However, presently, there have been no data available as to whether this association exists in adolescents with multiple sclerosis. Therefore, our objective was to investigate the association between gait variability and cognition in adolescents with multiple sclerosis encompassing 48 recently diagnosed adolescents with multiple sclerosis (26 girls; 22 boys), average age of 16...
October 25, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30345857/a-review-of-md-star-net-s-research-contributions-to-pediatric-onset-dystrophinopathy-in-the-united-states-2002-2017
#6
Kashika M Sahay, Tiffany Smith, Kristin M Conway, Paul A Romitti, Molly M Lamb, Jennifer Andrews, Shree Pandya, Joyce Oleszek, Christopher Cunniff, Rodolfo Valdez
Population studies of rare disorders, such as Duchenne and Becker muscular dystrophies (dystrophinopathies), are challenging due to diagnostic delay and heterogeneity in disorder milestones. To address these challenges, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net) in 2002 in the United States. From 2002 to 2012, MD STAR net longitudinally tracked the prevalence, clinical, and health care outcomes of 1054 individuals born from 1982 to 2011 with pediatric-onset dystrophinopathy through medical record abstraction and survey data collection...
October 22, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30324839/assessment-of-efficacy-of-oral-rehydration-salts-in-children-with-neurally-mediated-syncope-of-different-hemodynamic-patterns
#7
Wen Li, Shuo Wang, Xiaoyan Liu, Runmei Zou, Chuanmei Tan, Cheng Wang
OBJECTIVE: To assess the efficacy of oral rehydration salts in children with neurally mediated syncope of different hemodynamic types. METHODS: Children with unexplained syncope or pre-syncope who visited or were hospitalized between March 2012 and February 2015 were enrolled in the study. Checked by the head-up tilt test, 105 children (aged 4-18 years, with a mean age of 11.96 ± 2.86 years) were diagnosed with neurally mediated syncope. Of them, 73 had vasovagal syncope (vasodepressor type in 46, mixed/cardioinhibitory types in 27), and 32 had postural orthostatic tachycardia syndrome...
October 16, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30264640/novel-mutations-in-cln5-of-chinese-patients-with-neuronal-ceroid-lipofuscinosis
#8
Lv Ge, Han Yun Li, Yuan Hai, Liu Min, Li Xing, Jiang Min, Hu Xiang Shu, Ou Yang Mei, Li Hua
Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients and their families revealed 3 novel homozygous mutations, including 1 deletion CLN5.c718 719delAT and 2 missense mutations c.1082T>C and c.623G>A. We reviewed 278 papers about neuronal ceroid lipofuscinosis resulting from CLN5 mutations and compared Chinese cases with 27 European and American cases...
September 28, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30182801/evolution-of-brain-glucose-metabolic-abnormalities-in-children-with-epilepsy-and-scn1a-gene-variants
#9
Ananyaa Kumar, Csaba Juhász, Aimee Luat, Tuhina Govil-Dalela, Michael E Behen, Melissa A Hicks, Harry T Chugani
Three children with drug-refractory epilepsy, normal magnetic resonance image (MRI), and a heterozygous SCN1A variant underwent 2-deoxy-2-[18 F]fluoro-d-glucose positron emission tomography (FDG-PET) scanning between age 6 months and 1 year and then at age 3 years 6 months to 5 years 5 months. Regional FDG uptake values were compared to those measured in age- and gender-matched pseudo-controls. At baseline, the brain glucose metabolic pattern in the SCN1A group was similar to that of the pseudo-controls. At follow-up, robust decreases of normalized FDG uptake was found in bilateral frontal, parietal and temporal cortex, with milder decreases in occipital cortex...
September 5, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30149783/a-case-of-mercury-toxicity-complicated-by-acute-inflammatory-demyelinating-polyneuropathy
#10
Stacey Evans, Jeffrey Smith, Elena Caron
A 13-year-old African American male presented with 2 months of subacute altered mental status, ptosis, areflexia, disordered gait, constipation, weight loss, abdominal and testicular pain, and hyperhidrosis. Initial workup at our facility was unrevealing until elevated serum mercury level was detected. Diagnosis of mercury toxicity was confirmed, and chelation therapy with succimer was started. After beginning succimer, the patient developed acute-onset weakness and was diagnosed with acute inflammatory demyelinating polyneuropathy...
August 28, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30124108/multiple-sulfatase-deficiency-a-case-series-with-a-novel-mutation
#11
Leen Hijazi, Amna Kashgari, Majid Alfadhel
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. Clinically, the disorder is variable. The most common characteristics are developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. Herein, we report 6 Saudi patients with multiple sulfatase deficiency caused by a novel homozygous missense mutation in the SUMF1 gene (NM_182760...
August 20, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30311510/novel-homozygous-deletion-in-strada-gene-associated-with-polyhydramnios-megalencephaly-and-epilepsy-in-2-siblings-implications-for-diagnosis-and-treatment
#12
Katherine Nelson, Christopher Jackman, Jennifer Bell, Chie-Schin Shih, Katelyn Payne, Stephen Dlouhy, Laurence Walsh
Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single-base pair duplication...
December 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30307370/brain-lesions-as-a-predictor-of-therapeutic-outcomes-of-hand-function-in-infants-with-unilateral-cerebral-palsy
#13
Rena Chamudot, Shula Parush, Amihai Rigbi, Varda Gross-Tsur
AIM: The present study aimed to investigate whether the response variability of infants to modified constraint-induced movement therapy and bimanual therapy are associated with different types of brain lesions. METHOD: Infants with unilateral cerebral palsy (N = 22) ages 8-15 months (mean = 10.95, standard deviation = 2.15 months) were grouped according to having either a periventricular brain lesion or a middle cerebral artery infarct lesion. Improvement in hand function was analyzed based on the mini-Assistive Hand Assessment results...
December 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30303442/high-mobility-group-protein-b1-hmgb1-and-interleukin-1%C3%AE-as-prognostic-biomarkers-of-epilepsy-in-children
#14
Min Zhu, Jing Chen, Hu Guo, Le Ding, Yue Zhang, Yun Xu
The present study examined whether serum biomarkers can predict the prognosis of childhood epilepsy, including seizure frequency, electroencephalographic (EEG) changes, and cognitive impairment. We measured serum concentrations of high mobility group protein B1 (HMGB1), interleukin-1β (IL-1β), S100 calcium-binding protein B (S-100B), glial fibrillary acidic protein (GFAP), and α1-antichymotrypsin (AACT) in 180 children with new-onset epilepsy and 40 healthy children. Cognitive evaluations were performed 18 months after the initial seizure episodes at diagnosis (ie, baseline visit)...
December 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30261790/scope-and-burden-of-non-standard-of-care-hematopoietic-stem-cell-transplantation-in-pediatric-leukodystrophy-patients
#15
Joshua L Bonkowsky, Jacob Wilkes, David C Shyr
Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop disease progression, and if initiated in a timely fashion, prevent many or all neurologic and other systems involvement. However, HSCT is a complex procedure with significant morbidity and mortality risks...
December 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30246586/encephaloduroarteriosynangiosis-for-pediatric-moyamoya-disease-a-single-center-experience-with-67-cases-in-china
#16
Chengjun Wang, Meng Zhao, Jia Wang, Shuo Wang, Dong Zhang, Kai Wang, Jizong Zhao
The purpose of this study is to investigate the surgical results and long-term outcomes of encephaloduroarteriosynangiosis for moyamoya disease in pediatric patients. We performed a retrospective analysis of 67 pediatric patients with moyamoya disease who underwent encephaloduroarteriosynangiosis in Beijing Tiantan Hospital. The case series included 36 boys and 31 girls. All the patients underwent surgical revascularization, and a total of 93 encephaloduroarteriosynangiosis procedures were performed (41 unilateral, 26 bilateral)...
December 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30226082/superior-performance-in-prone-in-infants-with-congenital-heart-disease-predicts-an-earlier-onset-of-walking
#17
Lynn Dagenais, Manuela Materassi, Beatrice Desnous, Marie-Claude Vinay, Amélie Doussau, Pascale Sabeh, Joelle Prud'homme, Karine Gagnon BSc, Marien Lenoir, Marc-Antoine Charron, Anne Monique Nuyt, Nancy Poirier, Laurence Beaulieu-Genest, Lionel Carmant, Ala Birca
Infants with congenital heart disease are at risk of impaired neurodevelopment, which frequently manifests as motor delay during their first years of life. This delay is multifactorial in origin and environmental factors, such as a limited experience in prone, may play a role. In this study, we evaluated the motor development of a prospective cohort of 71 infants (37 males) with congenital heart disease at 4 months of age using the Alberta Infant Motor Scales (AIMS). We used regression analyses to determine whether the 4-month AIMS scores predict the ability to walk by 18 months...
December 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30209961/using-qualitative-inquiry-to-enhance-a-child-neurology-residency
#18
Marc DiSabella, Heather Walsh, Rachel Sarnacki, Ellen Goldman
The goal of medical residency programs is to provide educational opportunities to residents to facilitate their transformation into independent and competent health care practitioners. Despite an abundance of quantitative data on resident performance, qualitative data are lacking in published literature. Our study involved a standardized interview with all graduating child neurology residents to better understand their educational experiences during training. Qualitative data analysis resulted in 5 basic themes experienced by all trainees: (1) appreciation for faculty supportiveness, (2) appreciation for faculty receptiveness to feedback, (3) the difficulty of balancing clinical and academic demands during residency, (4) the benefit of structured mentorship and research, and (5) the value of independent and experiential learning...
December 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30203711/cellular-therapy-in-rare-childhood-neurologic-disease-lessons-outcomes-and-access
#19
Paul J Orchard
No abstract text is available yet for this article.
December 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/30185102/st3gal5-related-disorders-a-deficiency-in-ganglioside-metabolism-and-a-genetic-cause-of-intellectual-disability-and-choreoathetosis
#20
Eliza Gordon-Lipkin, Julie S Cohen, Siddharth Srivastava, Bruno P Soares, Eric Levey, Ali Fatemi
GM3 synthase deficiency is due to biallelic pathogenic variants in ST3GAL5, which encodes a sialyltransferase that synthesizes ganglioside GM3. Key features of this rare autosomal recessive condition include profound intellectual disability, failure to thrive and infantile onset epilepsy. We expand the phenotypic spectrum with 3 siblings who were found by whole exome sequencing to have a homozygous pathogenic variant in ST3GAL5, and we compare these cases to those previously described in the literature. The siblings had normal birth history, subsequent developmental stagnation, profound intellectual disability, choreoathetosis, failure to thrive, and visual and hearing impairment...
November 2018: Journal of Child Neurology
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